1,721,041 research outputs found
Daytime predictors of nocturnal hypercapnic hypoventilation in children with neuromuscular disorders—The Holy Grail
No full textImpact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3
No full textNusinersen treatment provides significant functional motor benefit in the chronic forms of spinal muscular atrophy (SMA). Less is known on respiratory outcomes in nusinersen treated patients. Only short-term results on forced vital capacity (FVC) have been reported in heterogeneous treated SMA cohorts. Aim of this study is to evaluate the impact of nusinersen on respiratory function across the iSMAC international cohort of paediatric SMA2 and non-ambulant SMA3 patients (Italian SMA network, US PNCR, UK SMA REACH) when compared to the natural history data (NH) recently published by the consortium. Five-year retrospective study of SMA2 and non-ambulant SMA3 children (age 5-16years) treated with nusinersen within iSMAc centres. We collected lung function expressed as Forced vital capacity absolute and %predicted (FVC %pred), use of non-invasive ventilation (NIV) and cough device. Data was available for 100 patients 81 SMA2, 19 SMA3. Mean (SD) age at first injection was 8(3.3) and 9.4(3.8) years in SMA2 and 3 respectively. Mean disease duration prior to treatment was 7.1(3.3) and 7.3(3.9) years. At first injection 34/65(52%) SMA2 and 2/19 SMA3(11%) were on NIV; 49/65 (75%) SMA2 and 6/20(30%) SMA3 used cough devices. Mean FVC%pred (SD) at first treatment was 53.9(25.8) and 80.6(12.0) respectively. Up to age 13 years, when the respiratory decline is steeper, in treated SMA2 FVC% declined by 2.2%/year vs 4.2% NH, in treated SMA3 FVC% declined by 1.4% vs 6.3%. In the few patients older than 13 years (13 SMA2, 7 SMA3), a clear treatment effect was not detected. One year post treatment 4/36 patients were weaned off NIV, whilst 7, who were self-ventilating at baseline, were established on NIV. This study on the largest cohort of chronic SMA reported so far, confirms the positive role of nusinersen in delaying the respiratory decline in paediatric patients with SMA2 and non-ambulant SMA3 younger than 13 years when compared to natural history. Larger cohorts and longer observation are required to evaluate the role of nusinersen on older patients. F. Trucco, H. Weststrate, D. Ridout, M. Scoto, A. Rohwer, G. Coratti, M. Main, M. Pane, S. Messina, A. D'Amico, C. Bruno, D. De Vivo, B. Darras, J. Day, G. Baranello, V. Sansona, E. Bertini, R. Finkel, E. Mercuri, F. Muntoni,
P.112 Impact of nusinersen on respiratory progression in paediatric patients with spinal muscular atrophy type 2 and non-ambulant type 3,
Neuromuscular Disorders,Volume 32, Supplement 1,2022,Page S89,ISSN 0960-8966, https://doi.org/10.1016/j.nmd.2022.07.197. (https://www.sciencedirect.com/science/article/pii/S0960896622003996
Reducing the need for carbon dioxide monitoring in the investigation of paediatric sleep disordered breathing
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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
Pseudo-obstructive events in Spinal Muscular Atrophy as a potential marker for disease progression
No full textVariations 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
The McGill score as a screening test for obstructive sleep disordered breathing in children with co-morbidities
No full textIl Paleolitico nei Monti della Tolfa: Nuove ricerche e prospettive future
No full textNel presente contributo viene proposto un quadro di sintesi sulla Preistoria dei Monti della Tolfa, teso ad ampliare le conoscenze sulla Preistoria locale attraverso nuovi dati acquisiti sia tramite lo studio di materiali provenienti da recenti raccolte di superficie, sia a seguito di un intervento di scavo effettuato nel sito fossilifero di Ficoncella. Lo studio integrale delle nuove raccolte di materiale litico consente di porre le basi per una sequenza relativa delle diverse frequentazioni antropiche riconoscibili sul territorio dal Paleolitico al primo Olocene, con la consapevolezza che le informazioni presentate hanno una valenza conoscitiva tutt’altro che definitiva.A synthesis of the Prehistory of the Monti della Tolfa area is here presented merging the knowledge on local prehistory coming from previous research with a number of new data obtained by analysing material from recent surface surveys and by a preliminary excavation carried at the fossiliferous site of Ficoncella. The study of new collections enable us to outline the cultural sequence at the Monti della Tolfa area from the different Palaeolithic stages to, albeit with doubt, first Holocene
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