871 research outputs found
Heterozygous deletion of FOXA2 segregates with disease in a family with heterotaxy, panhypopituitarism, and biliary atresia
No full textBiliary atresia (BA) is a pediatric cholangiopathy with unknown etiology occurring in isolated and syndromic forms. Laterality defects affecting the cardiovascular and gastrointestinal systems are the most common features present in syndromic BA. Most cases are sporadic, although reports of familial cases have led to the hypothesis of genetic susceptibility in some patients. We identified a child with BA, malrotation, and interrupted inferior vena cava whose father presented with situs inversus, polysplenia, panhypopituitarism, and mildly dysmorphic facial features. Chromosomal microarray analysis demonstrated a 277 kb heterozygous deletion on chromosome 20, which included a single gene, FOXA2, in the proband and her father. This deletion was confirmed to be de novo in the father. The proband and her father share a common diagnosis of heterotaxy, but they also each presented with a variety of other issues. Further genetic screening revealed that the proband carried an additional protein-altering polymorphism (rs1904589; p.His165Arg) in the NODAL gene that is not present in the father, and this variant has been shown to decrease expression of the gene. As FOXA2 can be a regulator of NODAL expression, we propose that haploinsufficiency for FOXA2 combined with a decreased expression of NODAL is the likely cause for syndromic BA in this proband
Stages for the More Sustainable Farm
No full textCurrently, agricultural farm units are faced with a double and most times contradictory challenge, in order to be successful: on the one hand the invested capital has to be profitable and the economic performance has to be maximised. On the other hand, given the socio-environmental situation, it is necessary to preserve and to protect the environment and natural resources. Given the potential conflict of the two aims, since the satisfaction of one implies the underperformance of the other (and vice versa), the question then is: which is the solution to choose? We intend, in this work, to formulate a farm plan with the purpose of reconciling the criteria of environmental sustainability with that of economic competitiveness. For this achievement we proceed to the comparative study of sustainability of different groups of farms identified in the study area (first evaluation cycle) through MESMIS (“Marco para la Evaluación de Sistemas de Manejo de Recursos Naturales Mediante Indicadores de Sustentabilidad” - Framework for Evaluation of Natural-Resource Systems Handling through Sustainability Indicators) methodology, that allowed to select the more sustainable group of farms. Based on the found potentialities and weakness on these production systems, we stepped to the planning of a production unit of bovine meat, which obeys simultaneously to economic and environmental objectives, using Multicriteria Decision. We finished the work with the sustainability evaluation between groups of farms identified previously and the planned farms (second evaluation cycle), based, again, in the MESMIS methodology, to confirm (or not) the greatest sustainability of the last ones. Analyses of the results allow us to confirm the greatest relative sustainability of the planned farm, for the diverse traced scenarios.Decision taking, planning, sustainability, Environmental Economics and Policy, Farm Management,
Compound heterozygous mutations in NEK8 in siblings with end-stage renal disease with hepatic and cardiac anomalies
No full textWe studied two brothers who presented in the newborn period with cardiac, renal, and hepatic anomalies that were initially suggestive of ALGS, although no mutations in JAG1 or NOTCH2 were identified. Exome sequencing demonstrated compound heterozygous mutations intheNEK8gene (Never in mitosis A-related Kinase 8), a ciliary kinase indispensable for cardiac and renal development based on murine studies. The mutations included a c.2069_2070insC variant (p.Ter693LeufsTer86), and a c.1043C>T variant (p.Thr348Met) in the highly conserved RCC1 (Regulation of Chromosome Condensation 1) domain. The RCC1 domain is crucial for localization of the NEK8 protein to the centrosomes and cilia. Mutations in NEK8 have been previously reported in three fetuses (from a single family) with renal-hepatic-pancreatic dysplasia 2 (RHPD2), similar to Ivemark syndrome, and in three individuals with nephronophthisis (NPHP9). This is the third report of disease-causing mutations in the NEK8 gene in humans and only the second describing multi-organ involvement. The clinical features we describe differ from those in the previously published report in that (1) a pancreatic phenotype was not observed in the individuals reported here, (2) there were more prominent cardiac findings, (consistent with observations in murine models), and (3) we observed bile duct hypoplasia rather than ductal plate malformation.The patients reported here expand our understanding of the NEK8-associated phenotype. Our findings highlight the variable phenotypic expressivity and the spectrum of clinical manifestations due to mutations in the NEK8 gen
Teaching empathy and emotions : J. M. Coetzee's "The lives of animals" and human-animal studies
No full textIn "Teaching Empathy and Emotions: J. M. Coetzee's 'The Lives of Animals' and Human-Animal Studies," Alexandra Böhm focuses on one of the most influential novels in the field of HAS. In her article, she delineates the two main difficulties in teaching Coetzee's text: firstly, the text's protagonist, fierce and fearless Australian author Elizabeth Costello, is often less-than-lovable and offers few grounds for identification; secondly, the text's multilayered structure further problematizes the authorial voice. However, by focusing on Costello's reassessment of emotion and empathy, Böhm convincingly demonstrates that Coetzee's text offers possibilities for understanding the key concepts of HAS, such as animal agency, alterity, and the necessity of assuming a non-anthropocentric perspective. In the narrative, Costello employs empathy in her approach to animals, but is this also true of the metadiegetic level of Coetzee's text? Does the text itself suggest how to teach empathy? Alexandra Böhm demonstrates that it is possible to elicit affective responses to these questions through emotion journals and role-playing
Phonological Word and Grammatical Word: a cross-linguistic typology
No full text'Word' is a cornerstone for the understanding of every language. It is a pronounceable phonological unit. It will also have a meaning, and a grammatical characterization - a morphological structure and a syntactic function. And it will be an entry in a dictionary and an orthographic item. 'Word' has 'psychological reality' for speakers, enabling them to talk about the meaning of a word, its appropriateness for use in a certain social context, and so on. This volume is about 'word' in its many guises. It is a logical progression from our earlier volume Word: A Cross-linguistic Typology, edited by R. M. W. Dixon and Alexandra Y. Aikhenvald (Cambridge: Cambridge University Press, 2002), incorporating new facts, new insights, and new generalizations.
The volume starts with a typological introduction summarizing the main issues to do with 'word', with special focus on phonological and grammatical word and on their interactions. It is followed by revised versions of papers presented at the International Workshop "'Word": its manifestations and functions' organized by the editors and held at the Language and Culture Research Centre, James Cook University, 3-4 October 2018. An earlier version of Chapter 1 was circulated to the contributors, with a list of issues to be addressed, so as to ensure that the studies of individual languages within this volume were cast in terms of a common set of parameters. This is the tenth monograph in the series Explorations in Linguistic Typology, devoted to volumes from International Workshops organized by the Language and Culture Research Centre and its predecessors.
The Workshop and subsequent discussions between the editors and the authors were intellectually stimulating, with cross-fertilization of ideas and scholarly debate. Each author has undertaken intensive fieldwork and has firsthand in-depth knowledge of their languages, in addition to experience of working on linguistic typology, historical and comparative linguistics, and language contact and areal diffusion. The analysis is uniformly cast in terms of basic linguistic theory-the cumulative typological framework which provides the foundation for sound empirically-based descriptive and analytic works. We avoid formalisms (which provide restatements rather than explanations, and come and go with such frequency that any statement made in terms of them is likely to soon become inaccessible)
Author Correction: Gap junction protein Connexin-43 is a direct transcriptional regulator of N-cadherin in vivo
No full textCorrection to: Nature Communications (2018); https://doi.org/10.1038/s41467-018-06368-x, published online 21 September 2018. The original version of this Article contained an error in the spelling of the author Alexandra Schambony, which was incorrectly given as Alexandra Schambon. This has now been corrected in both the PDF and HTML versions of the Article
THE OBSESSION OF CONTROL IN THE CHARACTER “EVE BLACKWELL” IN SIDNEY SHELDON’S MASTER OF THE GAME
No full textDalam suatu kelompok masyarakat, terdapat berbagai jenis kepribadian. Meskipun mereka hidup secara berdampingan dalam lingkungan yang sama, kemungkinan akan terjadinya konflik sangatlah terbuka lebar. Dalam skripsi ini, penulis membahas jenis kepribadian narsisistik, konflik – konflik yang dihadapi. dengan orang – orang disekitarnya maupun dengan dirinya sendiri, serta berakhirnya obsesi untuk pengendalian dari tokoh bernama Eve Blackwell dalam novel berjudul Master of the Game karya Sidney Sheldon. Keinginan si tokoh untuk memenangkan perhatian sang nenek dari saudari kembarnya berkembang menjadi keinginan akan kepuasan lahir dan batin dengan mengendalikan orang – orang disekitarnya termasuk dalam hubungan seks. Tujuan penulisan skripsi ini adalah untuk memaparkan usaha – usaha Eve Blackwell, dalam novel Master of the Game karya Sidney Sheldon, untuk mengendalikan orang – orang disekitarnya, konflik – konflik yang dihadapinya dan juga akhir dari obsesi akan kendalinya.
Untuk menganalisis tokoh ini, penulis menggunakan metode pendekatan struktural dan psikologis dengan menggabungkan teori narsisisme dari Joanna M. Ashmun dan teori obsesi dari S. Rachman. Penulis mengumpulkan data – data yang dibutuhkan dengan menggunakan metode penelitian pustaka.
Setelah melakukan analisis yang ditunjang oleh data - data, kita dapat mengetahui bahwa orang berkepribadian narsisistik seperti tokoh Eve Blackwell , yang kekuatan utamanya ada pada parasnya yang cantik, dapat menghalalkan segala cara untuk mewujudkan keinginannya. Namun dalam usaha – usahanya tersebut muncul berbagai bentuk perlawanan yang akan berujung pada konflik, baik internal maupun eksternal. Di bagian akhir analisis, kita juga dapat mengetahui bahwa dominasi orang berkepribadian narsisistik dapat dihentikan oleh kemunculan orang yang tepat seperti Keith Webster, yang berprofesi sebagai dokter operasi plastik, di waktu yang tepat
Lack of Insurance in the Stem Cell Banking Industry
No full textLegislative Proposal to Safeguard Banks and Their CustomersFall 2012 AMAccompanied by video fil
Anxiety Of Alexandra Maria Ellena Delgado In Stuart Gillard’s The Cutting Edge: A Psychoanalytic Approach
No full textThe major problem of this study is how anxiety reflected in the major character’s personality. The aim of this study is to analyze Stuart Gillard’s The Cutting Edge the structural elements and the development of personality of the major character based on Psychoanalytic Approach. This study focuses on major character, namely Alexandra Maria Ellena Delgado. The benefit of this research is to give addition all information to be used by other literature researchers who are interested in analyzing this movie. This study uses two data source, namely primary and secondary data source. The primary data source is the play script itself, while the secondary data are taken from some information needed.The method of data collection is qualitative method. Based on the analysis, the study of this research comes from
the major character problem. It purposes to analyze the movie using individual psychologycal perspective. The steps to conduct this research are (1) determining the type of the study, (2) determining the object of the study, (3) determining the data and data sources, (4) determining the technique of data collection, and (5) determining technique of data analysis. The result of the study found that there is a relationship between The Cuttingedge movie and psychoanalytic approach, first on the structural element of the movie; where the message to The Cuttingedge movie shows that Alexandra Maria Ellena Delgado as the major character that she want to be a beautiful ice skater. The point of view is, the director wants to show the struggle of life of Delgado’s. The theme of the movie is the basic idea of story in which the author portrays through conflicts of characters with other character or with life events. The anxiety of Alexandra related with psychoanalytic approach is that the doubt, fear, and worried of Alexandra makes her brave to take the second chance, and make her dream
comes true namely to be a beautiful ice skater
Degenerate partial differential equations and applications to probability theory and foundations of mathematical finance
No full textIn the first part of our thesis, we prove existence, uniqueness and regularity of solutions for a certain class of degenerate parabolic partial differential equations on the half space which are a generalization of the Heston operator. We use these results to show that the martingale problem associated with the differential operator is well-posed and we build generalized Heston-like processes which match the one-dimensional probability distributions of a certain class of It^o processes. The second part of our thesis is concerned with the study of regularity of solutions to the variational equation associated to the elliptic Heston operator. With the aid of weighted Sobolev spaces, we prove supremum bounds, a Harnack inequality, and H"older continuity near the boundary for solutions to elliptic variational equations defined by the Heston partial differential operator. Finally, we establish stochastic representations of solutions to elliptic and parabolic boundary value problems and obstacle problems associated to the Heston generator. In mathematical finance, solutions to parabolic obstacle problems correspond to value functions for American-style options.Ph. D.Includes bibliographical referencesby Camelia Alexandra Po
- …
