1,721,038 research outputs found
Treatment of spinal muscular atrophy
No full textPurpose of review The aim of the review was to provide an overview of safety and efficacy of the available treatments including information from both clinical trials and real-world data. Additional information form ongoing studies using other approaches than increasing SMN protein are also reported. Recent findings In the last 3years, there have been over 24 studies reporting safety and the impact of the available drugs on different aspects of function, including respiratory and bulbar function. These findings, obtained in a real-world setting, are extremely important to define the spectrum of responses in individuals with different age, weight, SMN2 copies, and other variables and will be of help to the families and the clinicians to set up the right expectations at the time of starting a new treatment. Summary The large number of studies that became available in the last few years support and expand the information on safety and efficacy provided by the clinical trials
What did we learn from new treatments in SMA? A narrative review
No full textSpinal Muscular Atrophy (SMA) is a progressive neuromuscular disorder caused by SMN1 gene mutations, leading to inevitable motoneuronal degeneration. The introduction of disease modifying therapies has dramatically altered its natural history, shifting management from palliative to proactive approach. The new phenotypes and differences in treatment response and efficacy, are all contributing to reshape our understanding of the disease itself. This paper aims to analyze the lessons derived from the recent therapeutic advances, focusing on key aspects such as therapeutic windows, impact of early treatment and both disease progression and treatment efficacy modifiers. Ultimately, we also aim to give insights on new models of data analysis being explored to optimize patient trajectories and individualize treatment strategies. Our experience and the overall review of clinical trials and real-world data confirm that early treatment maximizes motor outcomes, especially when started in the pre-clinical phase of the disease. The significant clinical improvements in symptomatic type I infants treated at different ages has provided evidence of an expanded ‘therapeutic window’, previously reported as limited to the first few months after birth on the basis of neurophysiological findings. The available data also provide evidence that function at baseline, SMN2 copy number, and age at treatment all appear to represent critical determinants of response. The availability of long-term data is increasingly used to pilot new predictive models to support clinical decision-making and to adapt therapeutic goals based on patient-specific variables
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
Scoliosis in spinal muscular atrophy in the era of disease-modifying therapy: a scoping review
No full text: Spinal muscular atrophy (SMA) frequently causes scoliosis (up to 90% of cases), due to weakened axial muscles impacting motor and respiratory function. While new SMA treatments improve motor function, their effect on scoliosis progression is unclear. This scoping review (2016-October 2024) analyzed literature from Pubmed, MEDLINE, EMBASE, and Scopus, focusing on studies of SMA, scoliosis, and treatment approaches. The aim of this work was to describe the clinical features and the possible therapeutic approaches of scoliosis in the "new population" of pharmacologically treated SMA patients. We included all types of SMA as well as all the approved disease modifying therapies (DMTs). The review found significant variability in scoliosis presentation and surgical intervention among different types of treated SMA patients. Early pharmacological treatment may slow scoliosis progression, particularly in Type II SMA. Interestingly, Type I SMA patients, who typically don't develop scoliosis due to severe hypotonia, showed an increased scoliosis onset. Larger studies are needed to fully evaluate the impact of different treatments on scoliosis progression in SMA, especially in Type I SMA patients, to establish updated standards of care
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
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