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397 results on '"Bushby K"'

1. Hammersmith Functional Motor Scale and Motor Function Measure-20 in non ambulant SMA patients

Author

Mazzone, E., De Sanctis, R., Fanelli, L., Bianco, F., Main, M., van den Hauwe, M., Ash, M., de Vries, R., Fagoaga Mata, J., Schaefer, K., D’Amico, A., Colia, G., Palermo, C., Scoto, M., Mayhew, A., Eagle, M., Servais, L., Vigo, M., Febrer, A., Korinthenberg, R., Jeukens, M., de Viesser, M., Totoescu, A., Voit, T., Bushby, K., Muntoni, F., Goemans, N., Bertini, E., Pane, M., and Mercuri, E.

Published
2014
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4. Towards harmonisation of outcome measures for DMD and SMA within TREAT-NMD; Report of three expert workshops: TREAT-NMD/ENMC Workshop on outcome measures, 12th–13th May 2007, Naarden, The Netherlands; TREAT-NMD Workshop on outcome measures in experimental trials for DMD, 30th June–1st July 2007, Naarden, The Netherlands; Conjoint Institute of Myology TREAT-NMD Meeting on physical activity monitoring in neuromuscular disorders, 11th July 2007, Paris, France

Author

Mercuri, E., Mayhew, A., Muntoni, F., Messina, S., Straub, V., Van Ommen, G.J., Voit, T., Bertini, E., and Bushby, K.

Published
2008
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29. Why are some patients with Duchenne muscular dystrophy dying young: An analysis of causes of death in North East England.

Author

Van Ruiten, H.J.A., Marini Bettolo, C., Cheetham, T., Eagle, M., Lochmuller, H., Straub, V., Bushby, K., and Guglieri, M.

Abstract

Introduction Duchenne muscular dystrophy (DMD) is the most common inherited muscle disease in children. Recent years have seen an increase in age of survival into adulthood following the introduction of proactive standards of care. We reviewed mortality in DMD in our population in order to identify potential underlying risk factors for premature death and improve clinical care. Method A retrospective case note review of all deaths in the DMD population over the last 10 years in North East England. We identified 2 groups of patients: patients who died from underlying cardiac and/or respiratory failure (group 1) and patients who died unexpectedly in the absence of underlying cardio-respiratory failure (group 2). Results Detailed information was available on 21 patients. Mean age of death in group 1 (17 patients) was 23.9 (14.4–39.5) years, in group 2 (4 patients) 14 (12.7–14.9) years. Causes of death in group 2 were acute pneumonia, cardiac arrest, acute respiratory distress and multi-organ failure. Across both groups we identified concerns regarding respiratory failure, inadequate nutrition, non-attendance at appointments, suboptimal coordination of care and decreased psychological wellbeing. In group 2, fat embolism, cardiac arrhythmia and adrenal insufficiency were also potential contributing factors. Conclusions The main cause of death in DMD in our population remains cardio-respiratory failure. Four patients (19%) died in their teenage years in the absence of severe cardiorespiratory failure. A more thorough understanding of the impact of DMD and its treatment on all organs systems is required to minimise the risk of an untimely death. [ABSTRACT FROM AUTHOR]

Published
2016
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38. S.O.2 - Analysis of a large international cohort confirms that recessively inherited loss-of-function TTN mutations cause prenatal or infant-onset muscle disease, often complicated by early cardiorespiratory involvement

Author

Oates, E., Yau, K., Donkervoort, S., Swanson, L., Brammah, S., Topf, A., Richard, I., Ferreiro, A., Hoffman, E., Bushby, K., Straub, V., Udd, B., Lek, M., MacArthur, D., Granzier, H., Beggs, A., Bonnemann, C., North, K., Davis, M., and Laing, N.

Published
2016
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