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Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome
No full textJ Med Genet. 2006 Oct;43(10):822-8. Epub 2005 Nov 11.
Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome.
Bonaglia MC, Giorda R, Mani E, Aceti G, Anderlid BM, Baroncini A, Pramparo T, Zuffardi O.
Abstract
INTRODUCTION:
The 22q13.3 deletion syndrome (MIM 606232) is characterised by neonatal hypotonia, normal to accelerated growth, absent to severely delayed speech, global developmental delay, and minor dysmorphic facial features. We report the molecular characterisation of the deletion breakpoint in two unrelated chromosome 22q13.3 deletion cases.
METHODS:
The deletions were characterised by FISH, checked for other abnormalities by array-CGH, and confirmed by Real-Time PCR, and finally the breakpoints were cloned, sequenced, and compared.
RESULTS:
Both cases show the cardinal features of the 22q13.3 deletion syndrome associated with a deletion involving the last 100 kb of chromosome 22q13.3. The cases show a breakpoint within the same 15 bp repeat unit, overlapping the results obtained by Wong and colleagues in 1997 and suggesting that a recurrent deletion breakpoint exists within the SHANK3 gene. The direct repeat involved in these 22q13 deletion cases is presumably able to form slipped (hairpin) structures, but it also has a strong potential for forming tetraplex structures.
DISCUSSION:
Three cases with a common breakpoint within SHANK3 share a number of common phenotypic features, such as mental retardation and developmental delay with severely delayed or absent expressive speech. The two cases presented here, having a deletion partially overlapping the commercial subtelomeric probe, highlight the difficulties in interpreting FISH results and suggest that many similar cases may be overlooked
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
Survey of Italian pediatricians on awareness, experiences and beliefs regarding direct-to-consumer genetic testing in minors
Full text linkBackground: Our study wanted to assess Italian pediatricians’ awareness, experience and beliefs regarding directto- consumer (DTC) genetic tests (GT) in minors, with a focus on those for predisposition to complex disease, lyfestyle, athletic ability and other inborn talents. Methods: A 28-item questionnaire was administered through the SurveyMonkey® web platform to the 9,086 members of the Italian Society of Pediatrics for which a valid email address was available. The survey was opened from April through November 2017. Statistical analyses were performed using the Graphpad software package. Results: 36.2% of the 442 respondents were aware of DTC-GT, but only 23.1% of them felt adequately prepared to meet families’ information needs. The first three sources of knowledge were the Internet (20.98%), magazines/ newspapers (16.78%) and TV/Radio (14.33%), while companies’ direct marketing activity influenced knowledge only in 2.45% of the cases. Only 16.4% of the aware respondents had been already approached for advice. More than 95% of the pediatricians who were aware would not advise DTC-GT for lifestyle, athletic performance or other inborn skills. 69.2% was unfavourable to susceptibility tests for complex diseases. Most of them expressed an interest in learning more and indicated as preferred sources of information public policies issued by professional societies. Conclusion: The low awareness and experience and the vendors’ tiny contribution to knowledge suggest a still limited penetration of DTC-GT companies in Italy. A great interest in learning more was found. Scientific societies are best positioned to support health professionals in this educational goal thanks to their role of trusted sources of information and guidance
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
Blackfan-Diamond disease with ambiguous genitalia
No full textThe Authors describe a case of Blackfan-Diamond anemia with ambiguous genitalia and other minor anomalies. They point out the elements of differential diagnosis with other precocious erythroblastopenic conditions and suppose a recessive inheritance of the disease because of family consanguinity in two generations
Better outcomes after minimally invasive surgeries compared to the standard invasive medial parapatellar approach for total knee arthroplasty: a meta-analysis
Full text linkPurpose: Minimally invasive surgery (MIS) for total knee arthroplasty (TKA) is often marketed as being able to speed up healing times over standard invasive surgery (SIS) through the medial parapatellar approach. The advantages of these minimally invasive approaches, however, are not yet definitively established. A meta-analysis of studies comparing peri-operative and post-operative differences and long-term complications of MIS versus SIS for TKA was conducted. Methods: This meta-analysis was conducted following the PRISMA guidelines. The Pubmed, Google Scholar, Scopus, and Embase databases were accessed in September 2020. All clinical trials comparing minimally-invasive versus standard approaches for TKA were considered. Only studies reporting quantitative data under the outcomes of interest were included. Methodological quality assessment was performed using the PEDro appraisal score. Results: This meta-analysis covers a total of 38 studies (3296 procedures), with a mean 21.3 ± 24.3 months of follow-up. The MIS group had shorter hospitalization times, lower values of total estimated blood loss, quicker times of straight-leg raise, greater values for range of motion, higher scores on the Knee Society Clinical Rating System (KSS) and its related Function Subscale (KSFS). Pain scores, anterior knee pain and revision rate were similar between MIS and SIS. SIS allowed a quicker surgical duration. Conclusion: The present meta-analysis encourages the use of minimally invasive techniques for total knee arthroplasty. However, MIS TKA is technically demanding and requires a long learning curve. Level of evidence: III, meta-analysis of clinical trials
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
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