1,721,149 research outputs found
Association of α globin gene quadruplication and heterozygous β thalassemia in patients with thalassemia intermedia
No full textTen patients with thalassemia intermedia with variable
severity and apparent simple heterozygosis for b0 39 C>T
nonsense mutation were submitted to clinical, hematologic
and molecular studies. The presence of an unknown
molecular defect (silent b-thalassemia) unlinked to the b
cluster interacting with the heterozygous b thalassemia,
was previously postulated in these families. Analysis of the
a globin gene cluster with PCR-based methods (MLPA,
GAP-PCR, digestion with restriction enzymes) detected
complex rearrangements in the a cluster. A duplication of
the a globin gene locus, including the upstream regulatory
region, was present in all the patients, associated in some
of them with deletion or non-deletion a thalassemia. The
variability of the clinical phenotype correlates with the
degree of the globin chain imbalance. The presence of a
globin cluster duplication should be considered in patients
heterozygote for b-thalassemia with thalassemia intermedia
phenotype and in the carriers of suspected silent b thalassemia.
Key words: thalassemia intermedia, a-globin gene quadruplication,
silent b thalassemia, MLPA.
Citation: Sollaino MC, Paglietti ME, Perseu L, Giagu N, Loi D,
and Galanello R. Association of a globin gene quadruplication
and heterozygous b thalassemia in patients with thalassemia
intermedia. Haematologica 2009.94:1445-1448.
doi: 10.3324/haematol.2009.005728
©2009 Ferrata Storti Foundation. This is an open-access paper
A integrated CMOS circuit for DNA hybridization detection with digital output and temperature control
No full textGoing 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
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
An Adaptive Cognitive Sensor Node for ECG Monitoring in the Internet of Medical Things
Full text linkThe Internet of Medical Things (IoMT) paradigm is becoming mainstream in multiple clinical trials and healthcare procedures. Cardiovascular diseases monitoring, usually involving electrocardiogram (ECG) traces analysis, is one of the most promising and high-impact applications. Nevertheless, to fully exploit the potential of IoMT in this domain, some steps forward are needed. First, the edge-computing paradigm must be added to the picture. A certain level of near-sensor processing has to be enabled, to improve the scalability, portability, reliability and responsiveness of the IoMT nodes. Second, novel, increasingly accurate data analysis algorithms, such as those based on artificial intelligence and Deep Learning, must be exploited. To reach these objectives, designers, and programmers of IoMT nodes, have to face challenging optimization tasks, in order to execute fairly complex computing tasks on low-power wearable and portable processing systems, with tight power and battery lifetime budgets. In this work, we explore the implementation of a cognitive data analysis algorithm, based on a convolutional neural network trained to classify ECG waveforms, on a resource-constrained microcontroller-based computing platform. To minimize power consumption, we add an adaptivity layer that dynamically manages the hardware and software configuration of the device to adapt it at runtime to the required operating mode. Our experimental results show that adapting the node setup to the workload at runtime can save up to 50% power consumption. Our optimized and quantized neural network reaches an accuracy value higher than 97% for arrhythmia disorders detection on MIT-BIH Arrhythmia dataset
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