1,721,001 research outputs found
Congenital hypothyroidism (CH): the re-evaluation of diagnosis in CH patients with in situ gland identified by newborn screening
No full textBackground: Congenital Hypothyroidism (CH) is the most common endocrine disorder in childhood. Levothyroxine treatment within the first 2-3 weeks of life prevent neurological damage. Newborn screening (NS) by TSH dosage on dried blood spot allowed to early identification of risk for CH. In the last years the reduction of TSH recall threshold has led to an increased detection of mild forms with in situ gland at the first diagnosis. Therefore, the re-evaluation of diagnosis has become an important procedure to distingue transient forms from permanent ones.Aetiology: Transient CH may be caused by maternal factors (deficiency/excess of iodine, TSH receptor blockers, drugs) or neonatal factors (preterm and NICU infants; heterozygous mutations of the DUOX2 and DUOXA2 genes).
Epidemiology: Before NS, the incidence of CH was 1:7000-10000 live births. After the introduction of NS it increased to 1:3000-4000. Currently, it is 1:1600-2800. This increase is correlated with the lowering TSH recall threshold, the increase in multiple pregnancies and preterm infants, and demographic changes.
Re-evaluation of CH: it is performed after third year of life. According to the European guidelines, two different strategies can be adopted: the discontinuation of therapy over a period of 4-6 weeks or by decreasing the dose of Levothyroxine by 30% for 2–3 weeks followed by the dosing of serum levels of TSH and fT4. CH is permanent if an increase in TSH ≥ 10 mU/L is demonstrated.
The etiology of CH can be identified using thyroid ultrasound (US), Iodine-123 scintigraphy, and in selected cases the perchlorate test.
If the US shows a normal thyroid volume and scintigraphy shows low/absent tracer uptake, TSH resistance is presumable.
If the US shows a normal or increased volume of thyroid, with a greedy absorption of the tracer to scintigraphy, dyshormonogenesis by the perchlorate test could be investigated. A radiolabel wash out of 10% of baseline uptake 2 hours after administration of perclorate is indicative of a defect in organification (partial with a wash out between 10-90%; total with a wash out >90%).
The US findings of a normal or increased thyroid volume associated with high TSH and very low/unmeasurable thyroglobulin levels point to a deficiency of thyroglobulin synthesis.
In our regional program of NS in the last ten years 491/454024 children were recalled for TSH and the diagnosis of CH was confirmed in 82.5%. The incidence of CH was 1:1121 births. 280 patients showed CH with in situ gland. After re-evaluation of diagnosis a permanent form of CH was detected in 55% of the cases (29% with hyperthyrotropinemia).
A partial form of organification defect was detected in 34.5% of subjects submitted to perchlorate test and a TSH resistance due to a heterozygous mutation of the TSH-receptor gene was detected in 28.6%.
Birth at term, the thyroid hypoplasia and a higher therapeutic dose of Levothyroxine (>2 mcg/Kg) at the re-evaluation were predictive factors of a permanent form.
The frequent persistence of thyroid dysfunction in patients with borderline TSH values at the NS underlines the importance of reducing the recall threshold
Genotyping Patients with Differences of Sex Development: 25 Years of Investigation of an Italian Population of 308 Cases (194 46,XY and 114 46,XX)
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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
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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