1,720,969 research outputs found
Elevated serum creatine kinase and small cerebellum prompt diagnosis of congenital muscular dystrophy due to FKRP mutations
No full textFukutin-related protein (FKRP) is a putative glycosyltransferase that mediate O-linked glycosylation of the α-dystroglycan. Mutations in the FKRP gene cause a spectrum of diseases ranging from a limb girdle muscular dystrophy 2I (LGMD2I), to severe Walker-Warburg or muscle-eye-brain forms and a congenital muscular dystrophy (with or without mental retardation) termed MDC1C. This article reports on a Moroccan infant who presented at birth with moderate floppiness, high serum creatine kinase (CK) levels, and brain ultrasonograph suggestive of widening of the posterior fossa. Muscle biopsy displayed moderate dystrophic pattern with complete absence of α-distroglycan and genetic studies identified a homozygous missense variant in FKRP. Mutations in FKRP should be looked for in forms of neonatal-onset hyperCKaemia with floppiness and small cerebellum. © The Author(s) 2013
Il progetto CareToy per l’intervento precoce nel bambino nato pretermine: risultati preliminari sull’interazione madre-bambino
No full textProgrammi di intervento precoce (IP) hanno dimostrato la loro efficacia nella promozione della interazione genitore-bambino. CareToy (CT) è un strumento innovativo, ideato per l’IP individualizzato, domiciliare e centrato sulla famiglia per bambini di 3-9 mesi. Il training con CT prevede lo svolgimento quotidiano, per 4 settimane, di attività di gioco genitore-bambino, monitorate e programmate da remoto dal centro clinico, finalizzate alla promozione dello sviluppo psicomotorio e della interazione genitore- bambino. Il presente studio ha lo scopo di valutare gli effetti del CT sulla interazione genitore-bambino e sulla partecipazione del genitore e del bambino al training, in un gruppo di 14 bambini nati pretermine, di cui 4 gemelli, di età corretta 3-5 mesi, arruolati nell’ambito di un RCT (ClinicalTrials.gov, NCT01990183). A tale scopo è stato sviluppato un questionario ad hoc che esplora, prima del training le aspettative del genitore e le competenze del bambino, e dopo la sua conclusione l’opinione sul sistema e sul training, la partecipazione alle attività e l’interazione genitore-bambino. Tutte le dieci famiglie hanno risposto al questionario. Tutte le famiglie intervistate hanno valutato come “positiva” l’esperienza con CT, l’uso del sistema è stato giudicato come “semplice” o “abbastanza semplice” e le attività proposte sono state valutate come “totalmente” o “in gran parte” personalizzate alle esigenze di ciascun bambino. Dopo l’esperienza con CT i genitori riferiscono aumento del tempo dedicato al gioco condiviso, apprendimento di nuove attività da proporre al bambino e maggiore coinvolgimento nella sua cura. Secondo questi dati premilinari CT appare un utile strumento di IP, in grado di favorire l’interazione genitore-bambino
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
Concurrent and predictive validity of the infant motor profile in infants at risk of neurodevelopmental disorders
Full text linkBACKGROUND: Preterm infants and infants with perinatal brain injury show a higher incidence of neurodevelopmental disorders (NDD). The Infant Motor Profile (IMP) is a clinical assessment which evaluates the complexity of early motor behaviour. More data are needed to confirm its predictive ability and concurrent validity with other common and valid assessments such as the Alberta Infant Motor Scale (AIMS) and Prechtl's General Movement Assessment (GMA). The present study aims to evaluate the concurrent validity of the IMP with the AIMS, to assess its association with the GMA, to evaluate how the IMP reflects the severity of the brain injury and to compare the ability of the IMP and the AIMS to predict an abnormal outcome in 5-month-old infants at risk of NDD.METHODS: 86 infants at risk of NDD were retrospectively recruited among the participants of two clinical trials. Preterm infants with or without perinatal brain injury and term infants with brain injury were assessed at 3months corrected age (CA) using the GMA and at 5months CA using the IMP and the AIMS. The neurodevelopmental outcome was established at 18months.RESULTS: Results confirm a solid concurrent validity between the IMP Total Score and the AIMS (Spearman's rho 0.76; p<.001) and a significant association between IMP Total Score and the GMA. Unlike the AIMS, the IMP Total score accurately reflects the severity of neonatal brain injury (p<.001) and proves to be the strongest predictor of NDD (p<.001). The comparison of areas under receiver operating characteristic curves (AUC) confirms that the IMP Total score has the highest diagnostic accuracy at 5months (AUC 0.92). For an optimal IMP Total Score cut-off value of 70, the assessment shows high sensitivity (93%) and specificity (81%) (PPV 84%; NPV 90%).CONCLUSIONS: Early motor behaviour assessed with the IMP is strongly associated with middle-term neurodevelopmental outcome. The present study confirms the concurrent validity of the IMP with the AIMS, its association with the GMA and its ability to reflect brain lesion load, hence contributing to the construct validity of the assessment.TRIAL REGISTRATION: NCT01990183 and NCT03234959 (clinicaltrials.gov)
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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