1,720,986 research outputs found
Hereditary connective tissue disorders: novel genotype-phenotype correlations, disease-genes and pathogenetic factors affecting disability
No full textHereditary soft connective tissue disorders (HCTDs)are a group of clinically variable and genetically heterogeneous conditions caused by constitutional abnormalities of the various components of the extracellular matrix (ECM). Although singularly rare, this community of syndromes are an emerging clinical phenomenon commonly encountered in different specialized settings, including but not limited to rheumatology, physical medicine, cardiology/heart surgery, and clinical genetics. EDS is probably the most common reason of referral in outpatient services dedicated to HCTDs. The 2017 international classification identifies 13 different clinical EDS forms due to mutations in no less than 19 genes. Nevertheless, probably no more than 20% of the patients who have a clinical diagnosis of EDS receive a molecular confirmation by the identification of the responsible mutation. On the other hand, EDS shares many features with the other HCTDs, and such a clinical similarity likely mirrors a common pathogenesis, at least, in specific cases. Therefore, it is expected that novel genes and novel genotype-phenotype correlations for known genes will be identified for EDS. Understanding the biological variability underpinning such a clinical variability is of utmost importance for seeking a tailored approach in the management of these patients. San Camillo-Forlanini Hospital (SCFH) is the Coordinator of the Regional (Lazio, Italy) reference centers for EDS and full member of the European Reference Network (ERN) for rare musculoskeletal diseases (ReCONNET). Since 2010, more than 800 patients who were referred to SCFH, received a diagnosis of EDS and were put under periodic medical follow-up. The aims of this PhD project were: 1) to highlight new genotype-phenotype correlations in HCTDs; 2) to identify novel disease genes for EDS-like phenotypes; 3) to explore disability determinants in a EDS patient cohort. In this context, for the years 2017-2019, the results of the current PhD project included (i) the discovery of the molecular cause of the exceptionally rare X-linked EDS variant, which resulted mutated in FLNA; (ii) the identification of TAB2 and MAP3K7, two genes encoding components of the non-canonic TGFβ-pathway, as responsible of phenotypes resembling EDS; (iii) characterization of musculoskeletal phenotype of hypermobile EDS, the most common EDS variant; (iv) characterization of the skin phenotype of classical EDS, the second most common EDS variant; (v) the exploration of the neurodevelopmental attributes of joint hypermobility in children with different forms of EDS and adults with hEDS in order to open the path for the identification of severity scoring in these disorders; (vi) the delineation of a severity scoring for adults with hypermobile EDS and HSD (hEDS/HSD); (vii) the clinical and molecular characterization of osteogenesis imperfecta/EDS overlap (OI/EDS); and (viii) the exploration of cellular effects of the mutations identified in TAB2 and MAP3K7. The related research activity resulted in 15 publications and SCFH was also represented in the International committee who published the current classification on EDS. The project has been nurtured by a multispecialistic team, aimed at exploring the biological and clinical variability of HCTDs with a true translational intent
Late diagnosis of lateral meningocele syndrome in a 55-year-old woman with symptoms of joint instability and chronic musculoskeletal pain
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Severity classes in adults with hypermobile Ehlers-Danlos syndrome/hypermobility spectrum disorders: a pilot study of 105 Italian patients
No full textAbstract
OBJECTIVES:
This study is aimed at identifying discrete severity classes among adults with hypermobile Ehlers-Danlos syndrome (hEDS)/hypermobility spectrum disorders (HSD).
METHODS:
Subjects were selected according to the old and new nomenclatures and all completed a set of questionnaires exploring pain, fatigue, dysautonomic symptoms, coordination and attention/concentration deficits and quality of life in general. Data were investigated by hierarchical clustering on principal components. Cluster comparisons were then performed by using the two-sample unpaired t test and the standardized mean difference was reported as a measure of effect size. Conditional classification tree analysis and multivariable logistic regression were carried out in order to identify the profiles that were at higher risk to belong to the more severe cluster. Weighted linear combination was used to identify a numerical score measuring this risk.
RESULTS:
A total of 105 patients were selected and distributed in two distinct severity groups. These groups were statistically separated on the basis of 47 of 59 items/characteristics. One group featured the worse values of most questionnaire items (complex/severe cluster) and the other was dominated by the better values (simplex/milder cluster). Only three items were able to stratify patients according to their risk to belong to the complex cluster. A severity score was then constructed on these three items.
CONCLUSION:
Adults with hEDS/HSD can be separated in two severity classes, which do not mirror either the old or new criteria for hEDS. The identified severity score could allow a bi-dimensional approach to adults with hEDS/HSD for optimal management planning
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
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