1,721,089 research outputs found
Non-syndromic Cleft Palate: An Overview on Human Genetic and Environmental Risk Factors
Full text linkThe epithelial and mesenchymal cells involved in early embryonic facial development are
guided by complex regulatory mechanisms. Any factor perturbing the growth, approach
and fusion of the frontonasal and maxillary processes could result in orofacial clefts
that represent the most common craniofacial malformations in humans. The rarest and,
probably for this reason, the least studied form of cleft involves only the secondary
palate, which is posterior to the incisive foramen. The etiology of cleft palate only is
multifactorial and involves both genetic and environmental risk factors. The intention
of this review is to give the reader an overview of the efforts made by researchers to
shed light on the underlying causes of this birth defect. Most of the scientific papers
suggesting potential environmental and genetic causes of non-syndromic cleft palate are
summarized in this review, including genome-wide association and gene–environment
interaction studies
Calcium sulfate: Analysis of MG63 osteoblast-like cell responses by means of a microarray technology
No full textLinkage analysis for nonsyndromic cleft lip and palate using microsatellite PCR markers
No full textCleft lip with or without cleft palate (CL/P), a common craniofacial malformation, is an embryopathy due to a failure of nasal processes and palatal shelves fusion. Clinical course is characterized by deglutition and respiratory problems, speech defects and otologic diseases; moreover the stigmata produce a difficult in social relations. Since surgery is highly effective in restoring morphological and functional aspects, prenatal diagnosis is of paramount importance in the psychological preparation of parents and planning therapy. As the basic molecular and/or cellular defect underlying CL/P is not completely known, the gene is a candidate for identification by positional cloning. Discordant informations regarding the localization of CL/P major gene has been provided so far. Indeed, different chromosomal regions, 1q21, 2p13, 4q31.3 6p23-25, 17q21.1 and 19q13.1 have been claimed to contain a CL/P locus. Our previous data have indicated the localization of the major gene in 6p23 region, and that CL/P disease is genetically heterogeneous
Drugs and nonsyndromic orofacial cleft: An update
No full textNonsyndromic orofacial celft (OFC) derives from an embryopathy with failure of the nasal process and/or fusion of the palatal shelves. This severe birth defect is one of the most common malformations among live births. Human cleft is composed of two separate entities: cleft of the lip with or without palate (CL±P) and cleft palate only (CPO). Both have a genetic origin, whereas environmental factors contribute to these congenital malformations. In this review we analyze the role of drugs related to the outset of cleft. The data were obtained from (i) epidemiologic studies (ii) animal models and (iii) human genetic investigations. These studies gave demonstrated a relation between certain drugs (steroids and anticonvulsants) taken during pegnancy and a higher risk of generating offspring with OFC whereas no clear relation has been demonstrated between sapirin and OFC
Genetic Risk Assessment of Periodontal Disease in Healthy Patients
No full textAbout 30% of the general population manifests periodontal disease (PD). Patients with parents
with a compromised periodontal condition may need prosthetic or implantology treatment (PIT), therefore those
patients are at increased risk of developing PD during or after dental treatment. Hence the use of a genetic test for
identify those most at risk of PD and submit them to very closely oral hygiene protocols, is mandatory. PIT of these
patients must be done safely having previously assessed the risk of developing PD. Polymorphisms of IL6 and IL10
constitute risk factors for chronic periodontitis, so the use of a genetic test is fundamental to ensure a correct
preventive protocol and plaque control in healthy patients
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
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
- …
