bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular basis and clinical presentation of classic galactosemia in a Croatian population
Authors: Ramadža Danijela Petković , Sarnavka Vladimir , Vuković Jurica , Fumić Ksenija , Krželj Vjekoslav , Lozić Bernarda , Pušeljić Silvija , Pereira Hana , Silva Maria João , Tavares de Almeida Isabel , Barić Ivo , Rivera Isabel 
Published: December 2017

Abstract

Background:
Classic galactosemia is an autosomal recessive disorder of galactose metabolism caused by severely decreased activity of galactose-1-phosphate uridylyltransferase (GALT) due to pathogenic mutations in the GALT gene. To date more than 330 mutations have been described, with p.Q188R and p.K285N being the most common in Caucasian populations. Although acute manifestations can be fully avoided by a galactose-restricted diet, chronic complications, such as neurological ones, cannot be prevented in a significant number of patients despite compliance with the dietary treatment.

Methods:
A cohort of 16 galactosemic Croatian patients, including one pair of siblings, was studied. Molecular characterization was performed by direct sequence analysis of the GALT gene.

Results:
Sixteen patients were analyzed and only four different mutations were detected. As expected, p.Q188R and p.K285N were common, accounting for 40% and 37% of unrelated alleles, respectively. The third mutation accounting for 20% of mutant alleles was p.R123X causing a premature stop codon, is thus considered to be severe, which is in accordance with the phenotype presented by the homozygous patient described here. The fourth mutation p.E271D was found in a single allele. More than half of our patients manifested some chronic neurological complications.

Conclusions:
This is the first report on mutational and phenotypic spectra of classic galactosemia in Croatia that expands the knowledge on the mutational map of the GALT gene across Europe and reveals the genetic homogeneity of the Croatian population.
Early usage of Bakri postpartum balloon in the management of postpartum hemorrhage: a large prospective, observational multicenter clinical study in South China
Authors: Wang Dongyu , Xu Shuqia , Qiu Xiwen , Zhu Caixia , Li Zhuyu , Wang Zilian , Hou Hongying , Gao Yu , Wang Xiaoyi , He Ping , Qin Yiwei , Liu Lihua 
Published: December 2017

Abstract

Aim:
To evaluate the success rate and protocol of the Bakri balloon for postpartum hemorrhage (PPH) in the course of a prospective observational multicenter cohort study in South China.

Methods:
At 20 hospitals in South China, women with postpartum bleeding who failed to respond to the first-line conservative management and received the Bakri balloon were recruited for the study. Maternal characteristics, PPH characteristics, PPH management and outcomes in regard to the Bakri balloon use were recorded.

Results:
A total of 472 women had a Bakri balloon tamponade and 407 (86.23%) women were enrolled (67 after vaginal delivery and 340 either during or after cesarean delivery). The success rate of the Bakri balloon in this study was 91.65% (373/407 women). During vaginal deliveries, the group with a hemorrhage >2000 mL before balloon insertion had significantly more blood loss (551.67±635.17 mL vs. 242.06±313.69 mL, P=0.039) and lower maternal hemoglobin (73±21.77 g/L vs. 92.06±19.60 g/L, P=0.029) after using Bakri balloon than the group with a hemorrhage <1000 mL. Similar data were found during cesarean deliveries. The blood loss before and after balloon insertion were significantly higher in the Bakri balloon failure group (1700±1429.88 mL before and 1209.58±1139.72 mL after using the balloon) than those in the success group [918±493.92 mL before (P=0.002) and 266.57±361.60 mL after using the balloon (P=0.001)].

Conclusion:
Rapid diagnosis or prognosis of PPH, in combination with early usage of the Bakri postpartum balloon is more effective for the management of PPH.
The New Aristotelian Essentialists
Authors: Noonan Harold W. 
Published: December 2017

Abstract
In recent years largely due to the seminal work of Kit Fine and that of Jonathan Lowe there has been a resurgence of interest in the concept of essence and the project of explaining de re necessity in terms of it. Of course, Quine rejected what he called Aristotelian essentialism in his battle against quantified modal logic. But what he and Kripke debated was a notion of essence defined in terms of de re necessity. The new Aristotelian essentialists regard essence as entailing but prior in the order of explanation to de re necessity. In what follows I argue that the concept of essence so understood has not been adequately explained and that any attempt to explain it, at least along the lines most familiar from the literature, must be flagrantly circular or make use of de re modal notions.
A derivative of the Corey lactone – crystal structure of (3aR,4S,5R,6aS)-4-(((tert-butyldimethylsilyl)oxy)methyl)-2-oxohexahydro-2H-cyclopenta[b]furan-5-yl benzoate, C21H30O5Si
Authors: Wang Kun-Yan , Wei Pengfei , Yang Xiao-Li 
Published: December 2017

Abstract
C21H30O5Si, orthorhombic, P212121 (no. 19), a = 8.5017(6) Å, b = 11.4370(7) Å, c = 22.2285(12) Å, V = 2161.4(2) Å3, Z = 4, R
gt(F) = 0.0499, wR
ref(F
2) = 0.0972, T = 296(2) K.
Water-swellable elastomers: synthesis, properties and applications
Authors: Polgar Lorenzo M. , Fallani Francesca , Cuijpers Juul , Raffa Patrizio , Broekhuis Antonius A. , van Duin Martin , Picchioni Francesco 
Published: December 2017

Abstract
Water-swellable elastomers (WSE) constitute a class of rubbery materials that have been widely studied both in academia and industry during the last 25 years. Market pull is the major driver for the exploration of these materials. The need of WSE in several sealing applications has driven the attention of many academic researchers toward the possibility to provide a rubber with water-swelling characteristics. As commercial rubbers are hydrophobic materials, making them swell in water presents an interesting and difficult challenge. This paper reviews the scientific and patent literature on the fundamental aspects of WSE: the various synthetic approaches, the properties of the corresponding polymers (not only the swelling performance but also the mechanical behavior), and some of their applications. Particular attention is paid to the chemical structure/performance relationships of WSE. Finally, the authors speculate on a great future for WSE that can be rationally designed for improved and/or new applications.
Neuroanatomy of conversion disorder: towards a network approach
Authors: Conejero Ismael , Thouvenot Eric , Abbar Mocrane , Mouchabac Stéphane , Courtet Philippe , Olié Emilie 
Published: December 2017

Abstract
The pathophysiology of conversion disorder is not well understood, although studies using functional brain imaging in patients with motor and sensory symptoms are progressively increasing. We conducted a systematic review of the literature with the aim of summarising the available data on the neuroanatomical features of this disorder. We also propose a general model of the neurobiological disturbance in motor conversion disorder. We systematically searched articles in Medline using the Medical Subject Headings terms ‘(conversion disorder or hysterical motor disorder) and (neuropsychology or cognition) or (functional magnetic resonance imaging or positron emission tomography or neuroimaging) or (genetics or polymorphisms or epigenetics) or (biomarkers or biology)’, following the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Two authors independently reviewed the retrieved records and abstracts, assessed the exhaustiveness of data abstraction, and confirmed the quality rating. Analysis of the available literature data shows that multiple specialised brain networks (self-agency, action monitoring, salience system, and memory suppression) influence action selection and modulate supplementary motor area activation. Some findings suggest that conceptualisation of movement and motor intention is preserved in patients with limb weakness. More studies are needed to fully understand the brain alterations in conversion disorders and pave the way for the development of effective therapeutic strategies.
„Gekommen, um zu bleiben“: Optionen für eine Auseinandersetzung mit der neuen Nuklearmacht Nordkorea
Authors: Fels Enrico 
Published: December 2017

Zusammenfassung:
Wie sehen die Chancen aus, Nordkorea mit militärischem oder politischem Druck zur Aufgabe seines Kernwaffenprogramms zu bewegen? Der Artikel befasst sich mit den unterschiedlichen derzeit diskutierten Optionen und gelangt zu dem Schluss, dass es keine überzeugenden Handlungsoptionen gibt, die dieses Ziel erreichen könnten. Es ist davon auszugehen, dass die Kim-Diktatur vorerst im Besitz von Kernwaffen sowie anderer Massenvernichtungswaffen bleiben wird. Selbst eine engere Abstimmung unter den USA und China dürfte nicht zu einer automatischen Denuklearisierung Nordkoreas führen. Es kommt derzeit eher darauf an, die gegenwärtige politische Eskalationsspirale zu entwirren und im bilateralen Austausch zwischen Washington und Peking nach Gemeinsamkeiten zu suchen und zu vermeiden, dass aus dem Konflikt über Nordkorea ein tiefgehendes strategisches Zerwürfnis zwischen beiden Ländern erwächst (von dem Russland profitieren würde).
Grenzen der thermischen, räumlichen und
zeitlichen Auflösung ungekühlter Thermografiekameras
Authors: Budzier Helmut , Gerlach Gerald 
Published: December 2017

Zusammenfassung
Durch die enorme Entwicklung der Mikrobolometertechnologie hat sich
die Thermografie in den letzten Jahren sehr stark entwickelt. So hat
sie sich fest als Messtechnik für Temperaturen von Oberflächen
etabliert. In diesem Beitrag wird nun untersucht, durch welche
physikalischen Randbedingungen die weiteren Entwicklungen von
Mikrobolometern hinsichtlich der thermischen, räumlichen und
zeitlichen Auflösung begrenzt werden. Die minimal erreichbare
NETD, die sogenannte BLIP-NETD (BLIP: Background
Limited Infrared Performance), wird durch das Strahlungsrauschen der
Objektstrahlung bestimmt. Sie hängt u. a. von der Pixelfläche
und der Bandbreite der Signalauswertung ab. Der kleinste
auflösbare Messfleck ist durch die Fraunhofer-Beugung an
einer kreisrunden Apertur entstehende Airy-Scheibe
gegeben. Aus der optischen Modulationsübertragungsfunktion
(MTF
O

) ergibt sich der kleinste sinnvolle Pixelabstand.
Compensatory Internalization of Pma1 in V-ATPase Mutants inSaccharomyces cerevisiaeRequires Calcium- and Glucose-Sensitive Phosphatases
Authors: Velivela Swetha Devi , Kane Patricia M 
Published: December 2017

AbstractLoss of V-ATPase activity in organelles triggers compensatory endocytic downregulation of the plasma membrane proton pump Pma1. Here, Velivela and Kane...Loss of V-ATPase activity in organelles, whether through V-ATPase inhibition or V-ATPase (vma) mutations, triggers a compensatory downregulation of the essential plasma membrane proton pump Pma1 in Saccharomyces cerevisiae. We have previously determined that the α-arrestin Rim8 and ubiquitin ligase Rsp5 are essential for Pma1 ubiquination and endocytosis in response to loss of V-ATPase activity. Here, we show that Pma1 endocytosis in V-ATPase mutants does not require Rim101 pathway components upstream and downstream of Rim8, indicating that Rim8 is acting independently in Pma1 internalization. We find that two phosphatases, the calcium-responsive phosphatase calcineurin and the glucose-sensitive phosphatase Glc7 (PP1), and one of the Glc7 regulatory subunits Reg1, exhibit negative synthetic genetic interactions with vma mutants, and demonstrate that both phosphatases are essential for ubiquitination and endocytic downregulation of Pma1 in these mutants. Although both acute and chronic loss of V-ATPase activity trigger the internalization of ∼50% of surface Pma1, a comparable reduction in Pma1 expression in a pma1-007 mutant neither compensates for loss of V-ATPase activity nor stops further Pma1 endocytosis. The results indicate that the cell surface level of Pma1 is not directly sensed and that internalized Pma1 may play a role in compensating for loss of V-ATPase-dependent acidification. Taken together, these results provide new insights into cross talk between two major proton pumps central to cellular pH control.
Potential role of Factor V Leiden mutation in adverse pregnancy outcomes: An updated systematic review
Authors: Roozbeh Nasibeh , Banihashemi Farzaneh , Mehraban Mitra , Abdi Fatemeh 
Published: December 2017

Background: Thrombophilia is an inherited or acquired predisposition for development of thrombosis. One of the common thrombophilia polymorphisms is Factor V Leiden (FVL) mutation, which may contribute to negative pregnancy outcomes. This systematic review study seeks to describe the potential effects of factor V Leiden mutation on adverse pregnancy outcomes.
Methods: Pubmed, Embase, ISI Web of Sciences, Scopus, ScienceDirect, Proquest and Google Scholar, for articles published during 1996-2017. Articles were evaluated by the Strengthening the Reporting of Observational Studies in Epidemiology (STROBE) checklist for standard reporting. As well, the quality of studies was assessed by the Newcastle-Ottawa Scale (NOS).
Results: A total of 14 studies were eligible based on the inclusion criteria. The papers were scored by the STROBE checklist. The range of STROBE score was 15-20. Only 37.5% of the studies confirmed the relationship between fetal loss and FVL. The effect of FVL mutation on spontaneous abortions and In Vitro Fertilization (IVF) failures was demonstrated in all the studies. In the reviewed studies, there was no observed relationship between FVL mutation with intrauterine growth restriction (IUGR), preeclampsia, placental abruption or small for gestational age (SGA).
Conclusion: The reviewed studies showed an unclear association between FVL mutation and stillbirth, IUGR, preeclampsia, or placental abruption. The exact effects of hereditary thrombophilia on pregnancy outcome is also still controversial. However, FVL mutation appeared to have an effect on spontaneous abortions and IVF failures. Therefore, screening patients for thrombophilic polymorphisms might be helpful.
Izominvazív hólyagrák képvezérelt sugárkezelése intravesicalisan befecskendezett lipiodolos jelöléssel. A hólyagmegtartó kezelés új lehetősége
Authors: Kliton Jorgo , Polgár Csaba , Tenke Péter , Kovács Gábor , Major Tibor , Stelczer Gábor , Ágoston Péter 
Published: December 2017

Abstract: Introduction and aim: To implement lipiodol as a fiducial marker of the tumor bed for image-guided radiotherapy with simultaneous integrated boost technique as part of radiochemotherapy for muscle invasive bladder tumors. Method: Since April 2016, radiochemotherapy was performed in 3 male patients with muscle invasive, transitional cell bladder carcinoma. Prior to radiochemotherapy, tumor bed resection was performed for each patient, at the same time 10 ml of lipiodol solution was injected submucosally into the resection site, thus marking the tumor bed for escalated dose irradiation. During radiochemotherapy 51 Gy (1.7 Gy/die) to the pelvis, 57 Gy (1.9 Gy/die) to the whole bladder, and 63 Gy (2.1 Gy/die) to the lipiodol-labeled tumor bed was delivered with simultaneous integrated boost technique. The accuracy of the irradiation was controlled by daily kilovoltage CT. Early radiogenic urogenital and gastrointestinal side effects were recorded according to Radiation Therapy Oncology Group side-effects grading recommendation. Results: Substantial perioperative side effect or toxicity were not observed during and after the injection of lipiodol. The prescribed dose was successfully delivered in all patients. Radiotherapy duration was 6 weeks. The lipiodol-labeled tumor bed was clearly visible on daily kilovoltage cone beam CT. In one patient grade II cystitis and proctitis was observed, another patient experienced only grade I cystitis. These complaints improved with symptomatic medication. In the third patient no significant side effect occurred. Conclusions: The injection of lipiodol into the bladder wall is a safe technique, without any perioperative toxicity or complication. The tumor bed demarcated by lipiodol was visible both on treatment planning and kilovoltage CTs. The total treatment time was shortened by 4 days. The treatment was well tolerated, early side effects were moderate, or slight. Orv Hetil. 2017; 158(51): 2041–2047.
Nauczanie papieża Franciszka o uchodźcach podczas Światowych Dni Młodzieży w Krakowie w relacjach dziennikarzy katolickich portali internetowych
Authors: Przyczyna Wiesław 
Published: December 2017

Na treść opracowania złożyły się rozważania o recepcji nauczania papieża Franciszka na temat uchodźców podczas Światowych Dni Młodzieży w Krakowie. Celem zaś była odpowiedź na pytanie, jak papieskie nauczanie o uchodźcach było przedstawiane na stronach katolickich portali internetowych. Z przeprowadzonych badań wynika, że na stronach tych były zamieszczane dziennikarskie interpretacje papieskich słów o uchodźcach, a nie jego słowa. To mogła być jedna z przyczyn, że Polacy pozostali „nieugięci” i nie zmienili swojego negatywnego nastawienia do uchodźców.
The Ritual Character of the Brand: the Challenge of the New Spaces between Consumerism and Religion
Authors: Sawicki Bernard 
Published: December 2017

In a world where everything is connected even realms which seem remote can be close. The ways of commerce and religion have always crossed, but recently one can speak, at least, about mutual inspiration. To deal with this complex, but fascinating and highly relevant phenomenon it is good to find some categories which make a comparison possible. One of them is rite, whose importance in modern branding is growing. The fact that a sense of community and relations construct both good brands and profound religious experience seems to open up new horizons in a dialogue between economics and religion.
BIFOSFONATOS ASSOCIADOS À OSTEONECROSE DOS MAXILARES: UMA ANÁLISE BIBLIOMÉTRICA
Authors: Fontenele Jimmy Willy Nogueira , Macedo Alexandro Sousa , Pedrosa Marlus Da Silva , Vasconcelos Marcus Barreto , Lopes Maura Régia Lima Verde Moura 
Published: December 2017

Introdução: Com a popularidade aumentada da terapia com bisfofonatos, é provável que cirurgiões-dentistas se deparem com pacientes fazendo uso destes medicamentos, sendo imprescindivel ponderar os riscos das condições orais e sistêmicas que envolvem o uso de bifosfonatos. Para tal, uma avaliação da literatura é necessária para compreensão desta condição, favorecendo um melhor tratamento ao paciente. Objetivo: Mapear, através de uma análise bibliométrica na base de dados Web of Science, os recentes avanços na produção cientifica internacional acerca da associação entre osteonecrose dos maxilares e bisfofonatos. Metodologia: Realizou-se um estudo bibliométrico na base de dados Web of ScienceTM a partir de artigos publicados entre 2003 a 2017, utilizando os termos de busca Osteonecrosis of Jaw AND Bisphophonates. Não foram aplicados filtros de refinamento para áreas de conhecimento, países ou idiomas dos estudos. A análise bibliométrica foi conduzida utilizando o software HistCiteTM. Resultados e Discussão: Foram identificadas 1395 publicações na Principal Coleção da Web of ScienceTM. Esses artigos foram publicados em 426 revistas diferentes indexadas e foram escritas por 5303 autores de 541 instituições em 26 países. A relação entre os artigos mostra que a temática é abordada de forma ampla e diversificada, apontando para uma gama de possibilidades da etiologia, prevenção e tratamento desta condição. Conclusão: A análise descritiva revelou um interesse crescente em pesquisas sobre osteonecrose dos maxilares induzida por bisfofonatos, bem como potencial para o desenvolvimento da área e contribuições para melhorar o entendimento sobre a etiologia, prevenção e tratamento desta condição.
Supervisão pedagógica e desenvolvimento profissional docente
Authors: Amaral Margarida , Bidarra Maria Graça , Vaz-Rebelo Piedade 
Published: December 2017

O objetivo do presente estudo consiste em conhecer conceções, funções e papel da Supervisão Pedagógica no desenvolvimento profissional docente junto dos professores, em particular dos coordenadores de departamento, atendendo às funções de liderança que exercem. Procedeu-se a uma investigação por inquérito com recurso a entrevista a onze coordenadores de departamento de Escolas que se destacaram positivamente no acompanhamento da prática letiva, no âmbito da Avaliação Externa de Escolas. A análise de conteúdo das entrevistas revela que a supervisão implementada inscreve-se predominantemente no modelo colaborativo sendo percecionada como promotora de aprendizagem/integração de novos saberes e competências e melhoria da prática pedagógica
Autoconceito em estudantes universitários de Moçambique: Estudo das relações e diferenças em função de variáveis pessoais e contextuais dos alunos
Authors: Campira Farissai Pedro , Araujo Alexandra M. , Almeida Leandro S. 
Published: December 2017

Neste artigo analisam-se as relações e diferenças no autoconceito em função de variáveis pessoais e de contexto dos alunos universitários de Moçambique. Participaram neste estudo 250 alunos da Universidade Pedagógica na Beira com idades entre 16 a 55 anos (M= 29.08; DP= 7.75), sendo 103 (41.2%) do sexo masculino. Destes 102(40.8%) tem até 23 anos de idade. Foi administrado o Questionário de Autoconceito para Estudantes Universitários de Moçambique. Os resultados mostram diferenças em função do género e da idade dos alunos apenas nalgumas dimensões: autoconceito religioso, autoconceito académico e autoconceito social.
Avaliação Externa: Reflexos No Processo De Desenvolvimento Curricular.
Authors: Alves Maria Palmira , Oliveira Lia , Nice Maria José , Oliveira Lucas 
Published: December 2017

Este artigo apresenta uma pesquisa em curso, cujo objetivo geral é analisar a influência das avaliações externas nas práticas de avaliação das aprendizagens e no trabalho dos professores. O estudo decorre em 15 escolas públicas do ensino fundamental e médio regular, no Brasil, além da educação de jovens e adultos, em modular, na região de Itacoatiara, Amazonas. Estas escolas apresentam padrões de desempenho satisfatórios nos anos iniciais, mas o nível nos anos finais e ensino médio apresenta um declínio. Discutem-se os conceitos de avaliação interna e externa e suas implicações no trabalho docente.
O pedagogo e os problemas de aprendizagem na alfabetização: contribuições da pesquisa de intervenção
Authors: Lemes Noemi Mendes Alves , Miranda Maria Irene , Araujo Maria Isabel 
Published: December 2017

Este trabalho é resultado de uma parceria entre Universidade Federal de Uberlândia e Secretaria Municipal de Educação de Uberlândia, Brasil, para realização de pesquisa-ação em escola pública com estudantes com dificuldades na alfabetização. O objetivo foi favorecer a melhoria no processo do ensino e aprendizagem por meio de projetos de intervenção psicopedagógica, favorecendo a aprendizagem dos estudantes pesquisados. A coleta de dados utilizou entrevistas, observações, avaliações psicopedagógicas, documentos e materiais pedagógicos. A pesquisa revelou que a psicopedagogia contribuiu com o trabalho de educadores e com a revisão da prática pedagógica oferecida na escola.
Inclusão de alunos com Necessidades Educativas Especiais: o olhar de diferentes atores
Authors: De Oliveira Raquel Batista , Amaro Bidarra Maria da Graça , Vaz-Rebelo Maria da Piedade 
Published: December 2017

O presente estudo tem como objetivo conhecer as perceções dos diferentes atores sobre as práticas inclusivas de alunos com Necessidades Educativas Especiais nas escolas portuguesas. Neste sentido, recorreu-se à entrevista semiestruturada direcionada para professores de Educação Especial e professores do Ensino Regular. Para a análise dos dados utilizou-se a técnica análise de conteúdo. Os resultados revelam que apesar de existir alguma convergência nas respostas, emergem diferentes perceções destes docentes quanto à necessidade de recursos humanos e materiais, bem como ao seu reconhecimento no funcionamento da escola.