1,720,979 research outputs found
Fatigue as a common signature of inflammatory myopathies: clinical aspects and care
No full text: Fatigue is a common symptom in idiopathic inflammatory myopathies (IIMs), which greatly affects activities of daily life. Fatigue is a complex phenomenon that covers a range of dimensions from biological to behavioural, the pathophysiology of which is still poorly understood. The aim of this review is to describe the different determinants of fatigue in IIMs, discuss their clinical implications and how to evaluate and manage the condition, which are all relevant issues for the treating physicians in their everyday practice
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
Biomolecules of Muscle Fatigue in Metabolic Myopathies
Full text linkMetabolic myopathies are a group of genetic disorders that affect the normal functioning of muscles due to abnormalities in metabolic pathways. These conditions result in impaired energy production and utilization within muscle cells, leading to limitations in muscle function with concomitant occurrence of related signs and symptoms, among which fatigue is one of the most frequently reported. Understanding the underlying molecular mechanisms of muscle fatigue in these conditions is challenging for the development of an effective diagnostic and prognostic approach to test targeted therapeutic interventions. This paper outlines the key biomolecules involved in muscle fatigue in metabolic myopathies, including energy substrates, enzymes, ion channels, and signaling molecules. Potential future research directions in this field are also discussed
Cardiac comorbidities in McArdle disease: case report and systematic review
No full textIntroduction and methods: Myophosphorylase deficiency, also known as McArdle disease or Glycogen Storage Disease type V (GSD-V), is an autosomal recessive metabolic myopathy that results in impaired glycogen breakdown in skeletal muscle. Despite being labelled as a “pure myopathy,” cardiac involvement has been reported in some cases, including various cardiac abnormalities such as electrocardiographic changes, coronary artery disease, and cardiomyopathy. Here, we present a unique case of a 72-year-old man with GSD-V and both mitral valvulopathy and coronary artery disease, prompting a systematic review to explore the existing literature on cardiac comorbidities in McArdle disease. Results: Our systematic literature revision identified 7 case reports and 1 retrospective cohort study. The case reports described 7 GSD-V patients, averaging 54.3 years in age, mostly male (85.7%). Coronary artery disease was noted in 57.1% of cases, hypertrophic cardiomyopathy in 28.5%, severe aortic stenosis in 14.3%, and genetic dilated cardiomyopathy in one. In the retrospective cohort study, five out of 14 subjects (36%) had coronary artery disease. Discussion and conclusion: Despite McArdle disease primarily affecting skeletal muscle, cardiac involvement has been observed, especially coronary artery disease, the frequency of which was moreover found to be higher in McArdle patients than in the background population in a previous study from a European registry. Exaggerated cardiovascular responses during exercise and impaired glycolytic metabolism have been speculated as potential contributors. A comprehensive cardiological screening might be recommended for McArdle disease patients to detect and manage cardiac comorbidities. A multidisciplinary approach is crucial to effectively manage both neurological and cardiac aspects of the disease and improve patient outcomes. Further research is required to establish clearer pathophysiological links between McArdle disease and cardiac manifestations in order to clarify the existing findings
The involvement of central nervous system across the phenotypic spectrum of Pompe disease: a systematic review
No full text: Pompe disease is an inherited lysosomal disorder which results in glycogen buildup in various organs and tissues. The phenotypic spectrum of this disorder encompasses infantile and late-onset forms, with variable multisystem involvement. Affection of the central nervous system is known to variably present in infantile forms, while the incidence of disease-related alterations in older patients is more debated. PubMed, Web of Science and Scopus databases were searched for papers regarding brain and spinal cord abnormalities at imaging and pathology, neuropsychological assessment and clinical reports in Pompe disease, without chronological restrictions. The database search identified 609 records, then 282 full-text articles were retrieved for detailed examination. Of these records, 81 were selected, which presented heterogeneity in methodology and overall analyzed small cohorts. Our search highlights the current fragmented evidence presented in the field. It would be advisable to perform a routine CNS assessment at least by imaging and neuropsychological evaluation at the time of diagnosis and as part of a regular follow-up, for IOPD but also for LOPD patients, to better characterize the prevalence and clinical significance of CNS abnormalities and provide a tailored follow-up
Telemedicine and remote monitoring in neuromuscular diseases: Challenges and opportunities
No full textBackground: Telemedicine, the application of those information technologies to remotely provide health services either for synchronously catching or asynchronous monitoring patient medical data, has shown a growing and widespread application in several chronic diseases, and, especially during and after COVID-19 pandemics, also in neuromuscular diseases. Objective: this review aims at providing an updated overview on the application of telemedicine and telemonitoring tools in neuromuscular diseases, in clinical practice, research and trials. Methods: a literature search was conducted on PubMed using keywords regarding telemedicine applications and several neuromuscular diseases, including papers up to May 2024. Conclusions: several tools have been developed and tested in myopathies, motoneuron diseases, myasthenia gravis and peripheral neuropathies, providing monitoring, assistance, and rehabilitation protocols for such frail population, for which obtaining real life data remotely can represent a concrete advantage in clinical trials and clinical practice. Although several barriers in the implementation of telemedicine in NMD still need to be overcome, there is evidence for both clinicians and patients showing positive acceptance and satisfaction on the use of remote supports, regarding them as confident outcome measures of quality of life in view of a more general concept of e-health solutions in routine medical 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
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