1,721,011 research outputs found
Genetica delle forme familiari comuni e rare di diabete mellito
No full textBackground. L’esperienza clinica quotidiana c’insegna che alcuni pazienti adulti che vengono diagnosticati come affetti da diabete mellito tipo 2 (DMT2) presentano una forma multigenerazionale di diabete che manca ancora di una precisa definizione clinica e molecolare.
Obiettivo. L’obiettivo principale di questo studio è stato quello di identificare, all’interno di una coorte d’individui già diagnosticati come DMT2, quei pazienti che erano in realtà affetti da una forma di diabete multigenerazionale, indipendente da mutazioni responsabili del Diabete giovanile dell’adulto (Maturity Onset Diabetes of the Young: MODY) o del Diabete Mitocondriale associato a sordità (Maternally Inherited Diabetes and Deafness: MIDD). Grazie a strategie di sequenziamento di nuova generazione, abbiamo analizzato il DNA di tali pazienti per determinare l’architettura genetica che sottende tale forma di diabete. Infine, ci siamo concentrati sulla determinazione delle caratteristiche cliniche di tali pazienti, per poi confrontarle con quelle di pazienti affetti da MODY o dal tradizionale DMT2.
Materiali e metodi. All'interno di un campione di 2,583 pazienti precedentemente diagnosticati come affetti da DMT2, sono stati selezionati quei pazienti che appartenevano a famiglie affette da diabete in almeno tre generazioni consecutive. I DNA dei soggetti identificati sono stati raccolti e sequenziati inizialmente con il metodo di Sanger, e successivamente attraverso le moderne tecniche del Targeted Resequencing, con lo scopo di individuare mutazioni in geni associati a forme di diabete monogenico come il MODY o il Diabete Neonatale (DN), e del Whole Exome Sequencing (WES), per identificare mutazioni in geni mai associati al diabete.
Risultati. Abbiamo osservato che il 2.6% di un campione di 2,583 pazienti precedentemente diagnosticati per il DMT2 era rappresentato da famiglie affette da una forma di diabete multigenerazionale che abbiamo proposto di definire FDA (Familial Diabetes of the Adulthood). In seguito all’analisi genetica compiuta attraverso il sequenziamento di Sanger ed il Targeted Resequencing su tali famiglie, è risultato che 6,7 e 1 famiglia riportavano mutazioni rispettivamente in geni MODY, DN e MODY + DN, mentre il sequenziamento degli esomi, compiuto tramite WES, ci ha premesso di identificare due mutazioni nel gene APPL1 che causano iperglicemia in due di tali famiglie. In seguito al confronto tra le caratteristiche cliniche di questi pazienti con quelle di 1,028 pazienti affetti dal DMT2, è risultato che l’FDA si caratterizza per un’età alla diagnosi più precoce (p<0.001). In 118 pazienti FDA e 838 pazienti DMT2 il tasso d’incidenza della mortalità generale è risultato simile: 1.93 contro 1.89 eventi/100 anni-persona.
Conclusioni. Con questo studio abbiamo caratterizzato un gruppo di pazienti affetti da una forma di diabete familiare multigenerazionale che abbiamo proposto di definire FDA. Tali pazienti si distinguevano da quelli affetti dal tradizionale DMT2 per l’età alla diagnosi più precoce, tuttavia non implicando alcun effetto sul tasso d’incidenza della mortalità generale che è risultato simile nei due gruppi. Attraverso la tecnica del Targeted Resequencing abbiamo osservato che l’FDA è geneticamente eterogeneo, essendo costituito da mutazioni in geni MODY (24%), mutazioni in geni associati al DN (13%) e mutazioni in geni MODY + DN (2%). Il restante 61% dell’ereditabilità dell’FDA è stato investigato tramite il sequenziamento degli esomi (WES) di tali soggetti attraverso cui abbiamo identificato un nuovo gene-malattia (APPL1), dimostrando come tale approccio, applicato alle famiglie FDA, rappresenti una buona strategia per la scoperta di nuove vie di segnale o metaboliche che modulano l’omeostasi del glucosio e, quindi, il rischio di diabete
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe 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
Full text link“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
Molecular Doping of CVD-Graphene Surfaces by Perfluoroalkyl-Substituted Perylene Diimides Derivatives
No full textNon-covalent π-π and dipolar interactions with small aromatic molecules have been widely demonstrated to be a valid option to tune graphene work functions without adding extrinsic scattering centers for charge carriers. In this work, we investigated the interaction between a CVD-graphene monolayer and a thermally evaporated sub-monolayer and the following few-layer thin films of similar perylene diimide derivatives: PDI8-CN2 and PDIF-CN2. The molecular influence on the graphene work function was estimated by XPS and UPS analysis and by investigating the surface potentials via scanning Kelvin probe force microscopy. The perfluorinated decoration and the steric interaction in the early stages of the film growth determined a positive work function shift as high as 0.7 eV in the case of PDIF-CN2, with respect to the value of 4.41 eV for the intrinsic graphene. Our results unambiguously highlight the absence of valence band shifts in the UPS analysis, indicating the prevalence of dipolar interactions between the graphene surface and the organic species enhanced by the presence of the fluorine-enriched moieties
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe 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
Full text linkWe 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
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