1,721,048 research outputs found
The National Italian Guidelines on the diagnosis and treatment of children with pediatric ataxias
No full textAtaxia is a rare neurological condition causing a deficit in the coordination of motor activities, preventing the fluidity of movements. Children with ataxia may show several different ataxic signs, along with difficulties in walking autonomously and ataxic gait often associated with trunk instability. Ataxic signs can be either acute or chronic, and in either case, the diagnosis can be extremely complex. Symptoms and their etiology are often widely heterogeneous, even within the same condition
BMI changes in paediatric type 1 narcolepsy under sodium oxybate treatment
No full textPaediatric Type 1 Narcolepsy (NT1) is often associated with overweight and obesity. Sodium oxybate (SO), approved for the treatment of narcolepsy with cataplexy from the age of 7 years old in US, has been associated with weight loss, although longitudinal paediatric studies are lacking. We report a retrospective cohort of 129 consecutive patients with a 4 years follow-up, to analyse the impact of different pharmacological treatments on BMI z-score. At baseline the prevalence of obesity and overweight was 26.4 % (34/129) and 29.5% (38/129), respectively. Patients were divided in 3 groups: children treated with SO alone (group 1), with SO-combined therapy (group 2), and without SO (group 3). At the end of the first year of follow-up, group 1 and group 2 showed a significant BMI z-score reduction compared to baseline: from 1.2±1.1 to 0.4±1.4 for group 1 (p < 0.001), and from 1.4±1.1 to 1±1.3 for group 2 (p = 0.002), independently from baseline clinical features. In the second year only group 2 experienced a further and significant BMI z-score decrease (from 1.0±1.2 to 0.6 ± 1.2, p = 0.037). No further significant BMI z-score changes were observed in SO treated patients in the following years. Instead, children treated without SO developed a significant weight increase between the second and third year of therapy (BMI z-score from 0.3±0.9 to 0.5±0.9). In conclusion, SO treatment in paediatric NT1 is associated with a favourable weight reduction in the first year of treatment
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
Resilience and its correlates in patients with narcolepsy type 1
Full text linkStudy objectives: This study aimed to explore resilience and its possible association with sociodemographic and clinical features in patients with narcolepsy type 1 (NT1). Methods: Cross-sectional study involving patients with NT1 and age/sex-matched controls (comparison group). Sociodemographic and clinical data were collected through semi-structured interviews and validated questionnaires, including Epworth Sleepiness Scale (ESS), STAI-State anxiety, Beck Depression Inventory (BDI), SF-36, and Resilience Scale (RS). Different statistical approaches were used to investigate the relationship between resilience and NT1, and associations with sociodemographic and clinical features. Results: The participants were 137 patients (mean age, 38.0 years; 52.6% female) and 149 controls (39.6 years; 55.7% female). Compared to controls, patients had a significantly lower (122.6 vs. 135.5) mean RS score and a twofold risk of having low/mild-range resilience (adjusted OR=1.99, 95% CI 1.13-3.52). Patients with high resilience had similar sociodemographic and narcolepsy characteristics of patients with low resilience, but they reported anxiety and depressive symptomatology less frequently (4.2% vs. 55.8% and 58.3%, respectively), and their SF-36 scores were comparable to those of the comparison group. In patients, RS score was strongly associated with STAI-State anxiety and BDI (rho=-0.57 and -0.56, respectively), and weakly with ESS (rho=-20) scores. Conclusions: The results of this study suggest that resilience may play a key role in patients' adaptation to NT1. Furthermore, this study supports interventions aimed at increasing patients' resilience, and provides a base for further studies, preferably longitudinal and including objective measures, directed toward understanding the relationship between resilience, depression and QoL in patients with narcolepsy.Study Objectives: This study aimed to explore resilience and its possible association with sociodemographic and clinical features in patients with narcolepsy type 1 (NT1). Methods: This was a cross-sectional study involving patients with NT1 and age-/sex-matched controls (comparison group). Sociodemographic and clinical data were collected through semistructured interviews and validated questionnaires, including the Epworth Sleepiness Scale (ESS), State-Trait Anxiety Inventory (STAI)-State Anxiety, Beck Depression Inventory (BDI), 36-item Short Form Survey (SF-36), and the Resilience Scale (RS). Different statistical approaches were used to investigate the relationship between resilience and NT1 and associations with sociodemographic and clinical features. Results: The participants comprised 137 patients (mean age, 38.0 years; 52.6% female) and 149 controls (39.6 years; 55.7% female). Compared with controls, patients had a significantly lower (122.6 vs 135.5) mean RS score and a 2-fold..
VAL-1221 for the treatment of patients with Lafora disease: study protocol for a single-arm, open-label clinical trial
No full textIntroduction Lafora disease (LD) is an ultrarare fatal progressive myoclonic epilepsy, causing drug-resistant epilepsy, myoclonus and psychomotor deterioration. LD is caused by mutations in EPM2A or NHLRC1, which lead to the accumulation of polyglucosans in the brain and neurodegeneration. There are no approved treatments for LD. VAL-1221 is a fusion protein comprising the Fab portion of a cell-penetrating antibody and recombinant human acid alpha glucosidase, and has demonstrated an ability to clear polyglucosans. We hypothesise that intravenous infusion of VAL-1221 might be able to degrade cerebral polyglucosans and stabilise or improve disease outcomes. The aim of this study is to assess the safety and preliminary efficacy of VAL-1221 in patients with LD.Methods and analysis The study is a phase 2, single-arm, open-label, baseline-controlled clinical trial which will be conducted in a single investigational study centre in Italy, namely the sponsor 'IRCCS Istituto delle Scienze Neurologiche di Bologna-Azienda USL di Bologna'. The study will enrol six genetically confirmed patients with mid- to late-stage LD. The global duration of the study for each participant will be 18 months, including screening period, open-label treatment (12 months) and follow-up period. VAL-1221 20 mg/kg will be administered as an intravenous infusion every week for 3 weeks, then every other week. Patients will undergo full clinical assessments at baseline, at an intermediate and at the end-of-treatment visit. The primary objective is to evaluate the safety. The exploratory efficacy endpoints will be related to epilepsy, neuropsychological and motor functions, global assessment and disease burden, in addition to biomarkers. Statistical analyses will be primarily descriptive.Ethics and dissemination The study protocol was approved by the local ethics committee (number 232-2023-FARM-AUSLBO-23020, 22 March 2023). The results of this study will be disseminated by the investigators through presentations at international scientific conferences and reported in peer-reviewed scientific journals.Trial registration number European Union Clinical Trials Register (EudraCT 2023-000185-34)
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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