1,721,001 research outputs found
Studio della complessità genetica di Distrofia Muscolare Facio-Scapolo-Omerale
No full textLa distrofia muscolare facio-scapolo-omerale (FSHD[MIM 158900]) è considerata una malattia autosomica dominante. Il fenotipo classico FSHD si presenta con un coinvolgimento dei muscoli del viso e del cingolo scapolare e successivamente interessa il cingolo pelvico e solo nel 10% dei casi coinvolge gli arti inferiori. La riduzione di unita ripetute di 3.3kb presenti sulla regione subtelomerica del cromosoma 4(DRA) è stata associata all’ FSHD. Considerando la varietà dei fenotipi FSHD e la presenza di individui sani portatori di DRA, è stata proposto un insieme di marcatori genetici specifici per lo sviluppo della malattia FSHD. In generale, la presenza di 1-3 DRA è associata ad una forma grave di malattia che si presenta durante l'infanzia, 4-7 DRA con la forma più comune di FSHD e 8-10 DRA con una malattia più lieve a penetranza ridotta. L'ipotesi che gli alleli di dimensioni estremamente corti siano associati a una forma più grave della malattia, caratterizzata da un esordio infantile e presenza di caratteristiche cliniche extramuscolari, ci ha portato a rivalutare una coorte di pazienti, portatori di 1-3 DRA, considerati nella letteratura il gruppo con la forma più severa della malattia. Lo scopo dello studio è stato quello di effettuare una caratterizzazione clinica e molecolare dettagliata di 67 casi indice, portatori di 1-3 DRA dal Registro Nazionale Italiano per l’FSHD. Lo studio ha rivelato che la maggioranza (65,7 %) di casi indice è portatore di una mutazione de novo. Una percentuale elevata di casi de novo ha manifestato un esordio precoce della malattia (entro 10 anni) e tra questi il 40% ha mostrato una forma infantile di FSHD (esordio entro 5 anni). Per quanto riguarda i casi familiari solo il 33,3% aveva un esordio precoce della malattia (19% con una forma infantile). In questo studio non abbiamo confermato che i portatori di 1-3 DRA siano un gruppo omogeneo di pazienti gravemente colpiti, ma abbiamo osservato una variabilità fenotipica simile ai gruppi di 4-7 e 8-10 DRA. L'attuale modello patogenetico del FSHD è che l'array D4Z4 funga da zona di controllo della conformazione cromatinica e dell'espressione dei geni vicini. Tuttavia alcune osservazioni indicano che i fattori supplementari potrebbero essere coinvolti nello sviluppo del FSHD: i) il 20 % dei pazienti FSHD portano alleli D4Z4 con 9 o più ripetizioni; ii ) oltre il 30 % dei parenti che sono portatori di DRA hanno un’ età superiore a 56 anni e non manifestano FSHD, iii) il 13 % delle famiglie hanno persone colpite in una sola generazione, iv ) la percentuale dei portatori di DRA che non manifestano la malattia è maggiore tra i familiari di primo grado in confronto con i parenti tra secondo e quinto grado. È quindi possibile che fattori epigenetici possano giocare un ruolo nella patogenesi dell’FSHD. Questa idea è supportata dall'osservazione che nei pazienti FSHD2, che portano alleli D4Z4 con più di 11 ripetizioni, il DNA venga ipometilato sul locus D4Z4. Su questa base, abbiamo effettuato un’ analisi epigentica a livello del locus D4Z4 in una grande coorte di famiglie, ipotizzando di chiarire alcuni aspetti che possano influenzare la manifestazione della malattia. Lo studio è stato condotto analizzando il livello di metilazione di 72 portatori di DRA facenti parte di 29 famiglie FSHD non correlate tra di loro e 43 controlli sani. Non abbiamo osservato la differenza nel livello di metilazione tra i due gruppi, quindi escludiamo che questo fattore epigenetico abbia un ruolo cruciale nella patogenesi dell’FSHD.Facioscapulohumeral muscular distrophy (FSHD [MIM 158900] considered as an autosomal dominant disorder is the third most common muscular distrophy with an estimated prevalence of 1:20,000. Classical FSHD phenotype includes early asymmetric involvment of facial and shoulder weakness with successive spreading on pelvic and lower limb muscle groups. Deletion of a subset of the 3,3kb D4Z4 macrosatellite repeats in the subtelomeric region of chromosome 4q (DRA) is genetically linked to FSHD. The protein coding gene responsible for the developing of disease has not been identified so far. Concerning the variety of the FSHD phenotypes and presence of the healthy individuals carriers of DRA, in the last years specific molecular signature was proposed to be responsible for developing of FSHD disease. In general, 1-3 DRA is associated with a severe form of disease that presents in childhood, 4-7 DRA with the most common form of FSHD and 8-10 DRA with a milder disease and reduced penetrance. Interestingly alleles with 1-3 DRA were not found in healthy individuals. The hypothesis that alleles of extremely short dimensions are associated with a more severe form of disease, characterized by an onset in childhood, a rapid progression of weakness and extramuscular clinical features challenged us to revaluate the subset of patients, carriers of 1-3 DRA. In literature early onset FSHD was supposed to be a different disease or the severe extreme of the classical disease. The aim of the study has been to perform a detailed clinical and molecular characterization of 67 index cases carrying 1-3 DRA allele from Italian National Registry for FSHD. The study revealed that the majority (65,7%) of index cases carried a de novo mutation. A high percentage of de novo cases referred an early disease onset (within 10 years) and 40% of them showed an infantile form of FSHD. Instead, only 33.3% of familial cases referred an early age (19% with a infantile form). Observed phenotypic variability among carriers of shortest DRA did not confirm this cohort of patients as most severely affected, but resembling the groups of 4-7 DRA and 8-10 DRA carriers. The current model to explain FSHD pathogenesis is that the D4Z4 repeat array acts as locus control region that governs 4q35 chromatin conformation and expression of nearby genes. However several observations indicate that additional factors might be involved in FSHD development: i) 20% of FSHD patients carry D4Z4 alleles with 9 or more repeats; ii) over 30% of relatives carrying D4Z4 reduced alleles who are older than 56 years do not have FSHD; iii) 13% of families have affected individuals in only one generation; iv) the percentage of non-manifesting carriers is higher among second- through fifth-degree relatives in comparison with first-degree family members. It is thus possible that factors responsible for epigenetic modifications might play a role in FSHD pathogenesis. This idea is supported by the observation that in FSHD2 patients, who carry D4Z4 alleles with more than 11 repeats, DNA is hypomethylated at the D4Z4 locus. On this basis, we considered that the study of epigenetic conformation at the D4Z4 locus in a large set of families might clarify some aspects influencing FSHD manifestation. We analyzed the level of methylation of 72 carriers of DRA from 29 unrelated FSHD families and 43 healthy controls and we did not observed the difference in the level of methylation between the two groups, thus we exclude this epigenetic modifier as a crucial factor in FSHD pathogenesis
Going Beyond Counting First Authors in Author Co-citation Analysis
Get PDFThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Get PDF“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Get PDFWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
Dispelling the Myths Behind First-author Citation Counts
Get PDFWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
Author Under Sail The Imagination of Jack London, 1893-1902
No full textIn Author Under Sail, Jay Williams offers the first complete literary biography of Jack London as a professional writer engaged in the labor of writing. It examines the authorial imagination in London's work, the use of imagination in both his fiction and nonfiction, and the ways he defined imagination in the creative process in his business dealings with his publishers, editors, and agents. In this first volume of a two-volume biography, Williams traverses the years 1893 to 1902, from London's "Story of a Typhoon" to The People of the Abyss. The Jack London who emerges in the pages of Author Under Sail is a writer whose partnership with publishers, most notably his productive alliance with George Brett of Macmillan, was one of the most formative in American literary history. London pioneered many author models during the heyday of realism and naturalism, blurring the boundaries of these popular genres by focusing on absorption and theatricality and the representation of the seen and unseen. London created an impassioned, sincere, and extremely personal realism unlike that of other American writers of the time. Author Under Sail is a literary tour de force that reveals the full range of London as writer, creative citizen, and entrepreneur at the same time it sheds light on the maverick side of machine-age literature.Intro -- Title Page -- Copyright Page -- Dedication -- Contents -- Acknowledgments -- Introduction -- 1. Spirit Truth -- 2. From Absorption to Theatricality and Back Again -- 3. "I Will Build a New Present" -- 4. Sons as Authors -- 5. Fathers as Publishers -- 6. The Daughter as Author -- 7. Lovers as Authors -- 8. At Sea with the Family -- 9. Yellow News, Yellow Stories -- 10. The Return Home -- Notes -- Bibliography -- Index -- About Jay WilliamsIn Author Under Sail, Jay Williams offers the first complete literary biography of Jack London as a professional writer engaged in the labor of writing. It examines the authorial imagination in London's work, the use of imagination in both his fiction and nonfiction, and the ways he defined imagination in the creative process in his business dealings with his publishers, editors, and agents. In this first volume of a two-volume biography, Williams traverses the years 1893 to 1902, from London's "Story of a Typhoon" to The People of the Abyss. The Jack London who emerges in the pages of Author Under Sail is a writer whose partnership with publishers, most notably his productive alliance with George Brett of Macmillan, was one of the most formative in American literary history. London pioneered many author models during the heyday of realism and naturalism, blurring the boundaries of these popular genres by focusing on absorption and theatricality and the representation of the seen and unseen. London created an impassioned, sincere, and extremely personal realism unlike that of other American writers of the time. Author Under Sail is a literary tour de force that reveals the full range of London as writer, creative citizen, and entrepreneur at the same time it sheds light on the maverick side of machine-age literature.Description based on publisher supplied metadata and other sources.Electronic reproduction. Ann Arbor, Michigan : ProQuest Ebook Central, YYYY. Available via World Wide Web. Access may be limited to ProQuest Ebook Central affiliated libraries
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