1,721,301 research outputs found
Autosomal dominant cortical tremor, myoclonus and epilepsy
No full textThe term ‘cortical tremor’ was first introduced by Ikeda and colleagues to indicate a postural and action-induced shivering movement of the hands which mimics essential tremor, but presents with the electrophysiological findings of cortical reflex myoclonus. The association between autosomal dominant cortical tremor, myoclonus and epilepsy (ADCME) was first recognized in Japanese families and is now increasingly reported worldwide, although it is described using different acronyms (BAFME, FAME, FEME, FCTE and others). The disease usually takes a benign course, although drug-resistant focal seizures or slight intellectual disability occur in some cases. Moreover, a worsening of cortical tremor and myoclonus is common in advanced age. Although not yet recognized by the International League Against Epilepsy (ILAE), this is a well-delineated epilepsy syndrome with remarkable features that clearly distinguishes it from other myoclonus epilepsies. Moreover, genetic studies of these families show heterogeneity and different susceptible chromosomal loci have been identified
Prevención y abordaje de la bronquiolitis en kinesiología
No full textObjetivos Generales:
Analizar las creencias de los kinesiólogos respecto a la importancia de los determinantes de la salud en el desarrollo de la bronquiolitis y qué técnicas utilizan en el tratamiento de la misma los licenciados de la provincia de Buenos Aires en el año 2024.
Objetivos Específicos:
1. Identificar el grado de importancia que los licenciados en kinesiología consideran que tienen los determinantes de la salud familiares, sociales y demográficos en relación al desarrollo de la bronquiolitis.
2. Examinar qué técnicas kinésicas utilizan los licenciados en kinesiología ya sea convencionales o no convencionales a la hora de abordar el tratamiento de la bronquiolitis.Disponible sólo para la consulta en la sala de la biblioteca de la Universidad FASTA en su versión completa.Fil: Navarro, Marcos. Universidad FASTA. Facultad de Ciencias Médicas; Argentina.Fil: Iribarren Zara, Federico. Universidad FASTA. Facultad de Ciencias Médicas; Argentina
Genetic epileptic encephalopathies: is all written into the DNA?
No full textEpileptic encephalopathy is a condition in which epileptic activity, clinical or subclinical, is thought to be responsible for any disturbance of cognition, behavior, or motor control. However, experimental evidence supporting this clinical observation are still poor and the causal relationship between pharmacoresistant seizures and cognitive outcome is controversial. In the past two decades, genetic studies shed new light onto complex mechanisms underlying different severe epileptic conditions associated with intellectual disability and behavioral abnormalities, thereby providing important clues on the relationship between seizures and cognitive outcome. Dravet syndrome is a childhood disorder associated with loss-of-function mutations in SCN1A and is characterized by frequent seizures and severe cognitive impairment, thus well illustrating the concept of epileptic encephalopathy. However, it is difficult to determine the causative role of the underlying sodium channel dysfunction and that of the consequent seizures in influencing cognitive outcome in these children. It is also difficult to demonstrate whether a recognizable profile of cognitive impairment or a definite behavioral phenotype exists. Data from the laboratory and the clinics may provide greater insight into the degree to which epileptic activity may contribute to cognitive impairment in individual syndromes
Novel treatment perspectives from advances in understanding of genetic epilepsy syndromes
No full textIntroduction: It is increasingly clear that epilepsy is genetically heterogeneous and novel gene discoveries have moved the field beyond the known contribution of ion channels to implicate chromatin remodeling, transcriptional regulation and regulation of cortical development. Although such discoveries pave the way for new therapeutics, relatively little has been written on the potential implications for treatment. We discuss the most recent advances in the field of epilepsy genetics, as facilitated by genomic technologies, and highlight several novel molecular targets and and potential novel therapeutic strategies.Areas covered: Epilepsy molecular mechanisms, genetic epilepsies, novel therapeutic approach.Expert opinion: The genetic confirmation and classification of a clinical diagnosis in an individual provides certainty in treatment decisions, prognosis, and evaluation of seizure recurrence risks and may also prevent unnecessary diagnostic investigations. The growing number of discoveries on this topic may lead to targeted therapeutic approaches in the near future. Only better understanding of mechanisms of epilepsies can result in great improvement of therapy and quality of life of patients
Validation of analytical methods for the production of expanded γδ T lymphocytes useful for therapeutic purposes
No full textThe use of γδ T lymphocytes as advanced therapeutic medicinal product has attracted much interest in the last years. Indeed, such cells are an ideal tool for the reconstitution of the immune system in patients receiving hematopoietic stem cell transplantation, due to their MHC-independent anti-tumor and anti-viral activities. We have here setup a protocol for the production of pure and functional γδ T lymphocytes, expanded from healthy donors’ mononuclear cells, and validated the analytical methods to identify them and to analyze their potency. Next, we performed stability studies to ensure that the cell product (γδ T cells) can be used after freezing and thawing. Notably, such protocol can be promptly translated to GMP-facility, since it has been designed using only clinical grade reagents
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
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