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Mutations in the FIG4 gene have been identified in various diseases, including amyotrophic lateral sclerosis, Parkinson's disease, and Charcot–Marie–Tooth 4 J (CMT4J), with a wide range of phenotypic manifestations. We present eight cases of CMT4J patients carrying the p.Ile41Thr mutation of FIG4. The patients were categorized according to their phenotype. Six patients had a pure CMT; whereas, two patients had a CMT associated with parkinsonism. Three patients had an early onset and exhibited more severe forms of the disease. Three others experienced symptoms in their teenage years and had milder forms. Two patients had a late onset in adulthood. Four patients showed electrophysiological evidence of conduction blocks, typically associated with acquired neuropathies. Consequently, two of them received intravenous immunoglobulin treatment without a significant objective response. Interestingly, two heterozygous patients with the same mutations exhibited contrasting phenotypes, one having a severe early-onset form and the other experiencing a slow disease progression starting at the age of 49. Notably, although 7 out of 8 patients in this study were compound heterozygous for the p.Ile41Thr mutation, only one individual was found to be homozygous for this genetic variant and exhibited an early-onset, severe form of the disease. Additionally, one patient who developed the disease in his youth was also diagnosed with hereditary neuropathy with pressure palsies. Our findings provide insights into the CMT4J subtype by reporting on eight heterogeneous patient cases and highlight the potential for misdiagnosis when conduction blocks or asymmetrical nerve conduction study results are observed in patients with FIG4 mutations. [ABSTRACT FROM AUTHOR]

The purpose of this article is to compare the different variants of the translation of the verse from Luke, 1:28 (the angelic salutation) into Romanian and Polish, and the modern versions of the prayer based on this passage. The analysis reveals the innovative character of the newer biblical translations, especially in the case of the Protestant versions, while the text of the Hail Mary prayer and its Eastern counterpart used by the Catholic and Orthodox Churches respectively preserves the traditional formula. At the same time, this leads to semantic differences between the Romanian and Polish variants of this formula, due to the Greek and Church Slavonic model in the case of Romanian and the Latin model in the case of Polish. The linking element between the two languages is the formula used in the Polish Orthodox text, which follows the tradition of the Church Slavonic language and thus coincides with the Romanian version, having a literal meaning of 'rejoice', even though functionally it should be interpreted as a greeting. [ABSTRACT FROM AUTHOR]

Rewriting and executing codes violate the SOLID principle of object-oriented programming. Robotics being an emerging platform, it becomes hard to write the code from scratch. We focus on using what is already built in as a Robotics Component instead of writing something from scratch. The intention is to minimize development effort and produce the desired result on time without rewriting the software components. By allowing functionalities of different components to be brought into a single component, we are saving the time required for code conversion or replication of functionality written in one language to another. So an architecture with these properties seems ideal for integrating different components. Integration is one of the most fundamental problems in designing autonomous mobile robots, especially those interacting with people in real-life settings. This paper presents an approach to building complex systems from different robotics packages available as open source components (PLAYER, STAGE, GAZEBO, CARMEN). DBUS is a message-oriented protocol for communicating among processes running on the same desktop. SOA provides access to the services over the network and adds novelty to our application. [ABSTRACT FROM AUTHOR]

Introduction. Mari people formed in the IX–XI centuries AD and settled due to historical circumstances mostly within the Volga-Kama region. For many centuries it had two ethnonyms: Cheremis and Mari. In the first quarter of the XX century the representatives of the Mari people selected one ethnonym in favor of another one, which was authentic and complimentary; it turned out to be a very complex historical fact. Materials and methods. The use of a systematic analysis of the sources of the studied period, an attempt to restore events in chronological dynamics, studying the events of the Mari ethnic history in the context of all-Russian history allows us to formulate the most objective answers to the research problems. Results and discussion. One of the earliest precursors to the solution of the ethnonymic alternative was “Marla Calendar” yearbook, the first publication to receive official recognition, where the self-name of the people took its rightful place on the cover of the printed edition. The turning point in using of the ethnonym was the First All-Russian Congress of the Mari People in July 1917. The materials of the Congress, both in the original language and in translation into Russian, do not contain a single use of the term Cheremis. February Regional Congress of Mari (1918) made a historic decision to abandon the existing name Cheremis people and replace it with the self-name of the people, Mari. Conclusion. The historical process of legitimization of the ethnonym Mari developed according to a certain pattern: “the position of a broad ethno-social base → a small number of the intelligentsia capable of formulating ideas → the agenda and resolutions of the national movement → legal acts, official record keeping, the language of science …”.

We have conducted a three-stage, comprehensive single nucleotide polymorphism (SNP)-tagging association study of ESR1 gene variants (SNPs) in more than 55,000 breast cancer cases and controls from studies within the Breast Cancer Association Consortium (BCAC). No large risks or highly significant associations were revealed. SNP rs3020314, tagging a region of ESR1 intron 4, is associated with an increase in breast cancer susceptibility with a dominant mode of action in European populations. Carriers of the c-allele have an odds ratio (OR) of 1.05 [95% Confidence Intervals (CI) 1.02-1.09] relative to t-allele homozygotes, P = 0.004. There is significant heterogeneity between studies, P = 0.002. The increased risk appears largely confined to oestrogen receptor-positive tumour risk. The region tagged by SNP rs3020314 contains sequence that is more highly conserved across mammalian species than the rest of intron 4, and it may subtly alter the ratio of two mRNA splice forms.

The story of the Annunciation to Mary and the birth of Jesus in the Qurʾān and the Bible has been the subject of several recent literary studies that bring up the use of textual silences, and the significance of speech and speechlessness as themes in the text. This paper focuses on three recensions of the story available to us in printed editions of al-Kisāʾī's Qiṣaṣ al-anbiyāʾ in similar vein, through intertextual comparison of these accounts with Mary stories as told in the Qurʾān, premodern qiṣaṣ collections, and Islamic historiographical sources. By comparing al-Kisāʾī's accounts of the Annunciation with those told in the Qurʾān and the wider Islamic Mary corpus it is possible to gain insight into the author's literary agenda, and also into the ways in which he draws on the wider narrative pool for his material, makes reference to the Qurʾān, and manipulates theme and characterisation. [ABSTRACT FROM AUTHOR]

Compte rendu Mathis-Moser, Ursula et Marie Carrière, Dir. Ecrire au-delà de la fin des temps ? Les littératures au Canada et au Québec / Writing Beyond the End Times ? The Literatures of Canada and Quebec

Exploration for new knowledge is critical to the performance of professional service firms. The networks of partners in professional service firms are thought to be important for knowledge exploration because they typically span both the firm's internal and external boundaries aiding the flow of novel information to the firm. Yet, to date prior studies of individual-level boundary spanning have focused primarily on the benefits of boundary spanning and only recently begun to address the costs of building and maintaining boundary spanning ties. We add to this stream of research and propose that the knowledge exploration benefits of internal boundary spanning ties accrue more slowly than the costs, resulting in a curvilinear relationship with knowledge exploration. Moreover, we propose that the effects of internal and external boundary spanning ties on exploration are interdependent, because effective exploration requires not only the selection of ideas externally, but also their transmission internally. Our study of 1,449 ties of partners in a consulting firm supports these arguments providing a more nuanced view of boundary spanning ties for knowledge exploration in professional service firms. [ABSTRACT FROM AUTHOR]

Objectives: To assess the phenotypic susceptibility of the E157Q polymorphism in HIV-1 integrase (IN) and the virological outcome of patients infected with E157Q-mutated virus initiating an IN inhibitor (INI)-based regimen.Methods: This was a multicentre study assessing IN sequences from INI-naive patients among 17 French HIV clinical centres. E157Q site-directed mutants in pNL4.3 and pCRF02_AG contexts were assessed in a recombinant phenotypic assay.Results: Prevalence of the E157Q polymorphism was 2.7% among 8528 IN sequences from INI-naive patients and its distribution was 1.7%, 5.6% and 2.2% in B, CRF02_AG and various non-B subtypes, respectively. Thirty-nine INI-naive patients with E157Q-mutated virus initiated an INI-based regimen. Among them, 15 had a viral load (VL) <50 copies/mL at initiation and virological suppression was maintained during the first year of follow-up in all but two exhibiting a viral blip. Twenty-four patients had a VL > 50 copies/mL at the time of INI-based regimen initiation. Among them eight were receiving a first-line regimen and the only two patients who did not reach VL < 50 copies/mL at week 24 were receiving elvitegravir. The 16 remaining patients were ART experienced in virological failure with drug-resistant viruses displaying several virological outcomes independently of the genotypic susceptibility score. Phenotypic analyses showed a fold change in EC50 of 0.6, 0.9 and 1.9 for raltegravir, dolutegravir and elvitegravir, respectively, in a subtype B context, and 1.1, 1.9 and 2.4 for raltegravir, dolutegravir and elvitegravir, respectively, in a CRF02_AG context.Conclusions: Assessment of virological response in 39 patients initiating an INI-based regimen with E157Q-mutated virus, in combination with phenotypic analysis, suggests that particular attention should be paid to antiretroviral-naive patients and dolutegravir should be preferentially used in these patients. [ABSTRACT FROM AUTHOR]

In interview passages placed as a found poem, Marie, a U.S. gold medalist skier and Paralympian, and transpelvic amputee, speaks directly and eloquently about her intense efforts to maintain her abilities, her independence, and her joyful self-direction over three decades of gradual disability. To this she brings her love of life and family, ingenuity, spiritual insight, and desire to live a meaningful, contributing life. Marie’s voice originates in interviews from a qualitative study undertaken at Gillette Children’s Specialty Healthcare during and after the fittings of her transpelvic prosthesis, from 2007 to 2013. During this time, Marie shared her remarkable experiences and interest in encouraging others. Through the use of narrative in poetic representation, our intent is to share Marie’s story to inspire readers of all abilities, to see themselves and each other more positively, holistically, and compassionately, within the context of their evolving stories. [ABSTRACT FROM PUBLISHER]

This article invites the reader to discover the presence of Mary, Mother of God, in the Bible and in the tradition of the Church. Notwithstanding what certain Catholics, and especially certain Protestants, might think, the Catholic Church did not create something new in order to enhance the person of Mary; Catholics do not adore Mary in the place of God. The Church simply seeks to respond and perpetuate -- through study and devotion -- the words of Mary transmitted by Saint Luke: "For behold from henceforth all generations shall call me blessed" (Lk 1:48). This article underlines the importance of the Virgin in the daily life of the Christian who wants to live according to the desires of Jesus Christ. [ABSTRACT FROM AUTHOR]

The word 'adrā' initially reminds Muslims or Arab Christians of the Virgin Mary, who is always referred to with great respect and reverence. The association of Mary with the term 'adrā' itself has a long history. However, the question is why she was given this attribute and whether or not this word was used in the sense of a ''maiden and virgin.'' In this paper, the writer has tried to explore the historical process of semantic evolution of this word and reveal its various meanings in broader texts. [ABSTRACT FROM AUTHOR]

ABSTRACT Introduction: X-linked Charcot-Marie-Tooth (CMT1X) disease is caused by mutations in the GJB1 gene. We describe a young man who presented with recurrent central nervous symptoms and transient white matter changes in the setting of a novel mutation in the GJB1 gene. Methods: Evaluation included clinical examination, neuroimaging, electrophysiological, and molecular genetic studies. Results: Clinical examination on 2 admissions 5 years apart demonstrated hemiparesis with findings of underlying peripheral neuropathy. Electrophysiologic studies revealed a sensorimotor polyneuropathy. MRI studies from both admissions revealed white matter changes, with improvement on an intervening study. Mutation analysis showed a novel mutation (c.98T>A; p.Ile33Asn) in the GJB1 gene. Conclusions: Mutations in GJB1 can result in recurrent central nervous system symptoms with transient white matter signal changes on MRI. In patients presenting with hemiparesis, the presence of signs of a peripheral neuropathy may facilitate identification of CMT1X, and is likely to affect clinical management. Muscle Nerve 49:451-454, 2014 [ABSTRACT FROM AUTHOR]

L'inclusion dans La nouvelle pornographie (2000) du nom propre de l'auteure est perçue comme une implication qui la met en danger. La métalepse est utilisée pour inscrire le roman dans la mouvance des confessions sexuelles et se jouer de leurs codes. Comme le discours publicitaire, Marie Nimier utilise la rhétorique pornographique afin de « vendre » un contenu domestique : la pornographie de surface dissimule un récit qui réinscrit l'amour comme moteur du désir féminin. Nimier joue de la métalepse pour déjouer les scènes pornographiques et séduire le lecteur par l'intelligence de ses manipulations plutôt que par ses dévoilements.

ABSTRACT Introduction Charcot-Marie-Tooth ( CMT) disease is a group of peripheral neuropathies affecting both motor and sensory nerves. CMTX3 is an X-linked CMT locus, which maps to chromosome Xq26.3-q27.3. Initially, CMTX3 was mapped to a 31.2-Mb region in 2 American families. We have reexamined 1 of the original families ( US-PED2) by next generation sequencing. Methods Three members of the family underwent exome sequencing. Candidate variants were validated by PCR and Sanger sequencing analysis. Conclusion No pathogenic coding variants localizing to the CMTX3 region were identified. However, exome sequencing identified a known BSCL2 mutation ( N88S). This study demonstrates the power of exome sequencing as a tool to identify gene mutations for a small family in the absence of statistically significant linkage data. Muscle Nerve 47: 922-924, 2013 [ABSTRACT FROM AUTHOR]

Copyright of Revista Arhivei Maramureșene is the property of Revista Arhivei Maramuresene and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Revista Arhivei Maramureșene is the property of Revista Arhivei Maramuresene and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Archives de Sciences Sociales des Religions is the property of Editions EHESS and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

The novels of Marie Darrieussecq have been written against the backdrop of robust debates in France concerning theories of the mind. Her work from 1998 onwards can be read as foregrounding a cognitive representation of mental operations, yet it also contains references to the classical themes of psychoanalysis. My argument examines ways in which her first novel, Truismes, might be brought into the forum of these debates. It explores the tension between a sociological reading of the formation of the self and one which highlights the role of psychical structures, drawn from the work of Freud and Lacan, in the formation and transformation of Darrieussecq's protagonist. My aim is to convey to readers an immediate sense of the formative power of the Freudo-lacanian psychical structures and the possibilities which arise from exploring Darrieussecq's fictional narrator as a potential Lacanian case study. [ABSTRACT FROM PUBLISHER]

Abstract: We studied the visual recognition of the facial emotions, on 20 chronic and institutionalized schizophrenics. They were paired in age, sex, educational level with a reference group. We used the MARIE battery which uses a binary pairing in a continuum of intermediate images. The recognition of the disgust is decreased followed by the fear. The surprise is the least overdrawn. The recognition of anger and the bipolar series (emotion-emotion) is strictly identical to that of the controls. [Copyright &y& Elsevier]

Copyright of Studia Universitatis Babes-Bolyai, Theologia Catholica is the property of Babes-Bolyai University, Cluj-Napoca, Romania and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)