Search results for: J. Imrie

Items from 1 to 12 out of 12 results

article

Developmental outcome post allogenic bone marrow transplant for Niemann Pick Type C2

C. Breen, R.F. Wynn, A. O'Meara, E. O'Mahony, more

Molecular Genetics and Metabolism > 2013 > 108 > 1 > 82-84

Niemann Pick Type C2 (NPC2) is a rare autosomal recessive disease caused by mutations in the NPC2 gene (OMIM 601015). Clinically, NPC2 presents in most cases in the neonatal period with inflammatory lung disease, which may lead to death in the first year. If patients survive the neonatal period, they may develop a severe neurological disease. Here we present the developmental and neurological follow...

article

118 ECGS Pre and Early Post Primary PCI : Important Predictor of In-Hospital Adverse Outcomes in STEMI Population

A.Y. Chou, K. Ramanathan, M.S. Gao, S. Chan, more

Canadian Journal of Cardiology > 2012 > 28 > 5 Supplement > S133

article

230 Impact of pre-hospital electrocardiograms and mode of patient presentation on in-hospital mortality in a regional model of ST-elevation myocardial infarction care

C.B. Fordyce, K. Ramanathan, A. Pu, J. Imrie, more

Canadian Journal of Cardiology > 2011 > 27 > 5 Supplement > S143

article

Attitudes towards new HIV biomedical prevention technologies among a cohort of HIV‐negative gay men in Sydney, Australia

IM Poynten, F Jin, GP Prestage, JM Kaldor, more

HIV Medicine > 11 > 4 > 282 - 288

ObjectivesThe aim of the study was to explore the awareness of rectal microbicides, the use of pre‐exposure prophylaxis (PREP) and the willingness to participate in biomedical HIV prevention trials in a cohort of HIV‐negative gay men. MethodsIn a community‐based cohort study, HIV‐negative homosexually active men in Sydney, Australia were questioned about awareness of rectal microbicides, use of PREP,...

article

Dietary modifications in patients receiving miglustat

H. Champion, U. Ramaswami, J. Imrie, R. H. Lachmann, more

Journal of Inherited Metabolic Disease > 2010 > 33 > 3 > 379-383

Weight loss and gastrointestinal disturbances are often seen during miglustat therapy for lysosomal storage diseases. A retrospective analysis of data from a mixed group of patients treated with miglustat at two UK centres was performed to evaluate the effect of two different dietary interventions on body weight and gastrointestinal tolerability during the initial 6 months of miglustat therapy. Neurological...

article

P300 Safety monitoring of miglustat in patients with Niemann Pick disease type C: an update

M. Pineda, J.E. Wraith, E. Mengel, J. Imrie, more

European Journal of Paediatric Neurology > 2009 > 13 > Supplement 1 > S114

article

MLP022 Safety monitoring of miglustat in Niemann Pick-C (NP-C) patients

J.E. Wraith, M. Beck, J. Imrie, M. Pineda, more

European Journal of Paediatric Neurology > 2007 > 11 > Supplement 1 > 105-106

article

The natural history of Niemann–Pick disease type C in the UK

J. Imrie, S. Dasgupta, G. T. N. Besley, C. Harris, more

Journal of Inherited Metabolic Disease > 2007 > 30 > 5 > 833-833

The online version of the original article can be found at http://dx.doi.org/10.1007/s10545-006-0384-7

article

The natural history of Niemann–Pick disease type C in the UK

J. Imrie, S. Dasgupta, G. T. N. Besley, C. Harris, more

Journal of Inherited Metabolic Disease > 2007 > 30 > 1 > 51-59

Summary Niemann–Pick disease type C (NPC) is an autosomal recessive, neurovisceral lipid storage disorder. Mutations in two genes (NPC1 and NPC2) produce indistinguishable clinical phenotypes by biochemical mechanisms that have not yet been entirely clarified. The wide spectrum of clinical presentations of NPC includes hepatic and pulmonary disease as well as a range of neuropsychiatric disorders...

article

Fine needle aspiration cytology in the management of a parotid mass: A two centre retrospective study

K. Balakrishnan, B. Castling, J. McMahon, J. Imrie, more

The Surgeon > 2005 > 3 > 2 > 67-72

Objectives: There is a diversity of opinion regarding the role of fine needle aspiration cytology (FNAC) in the pre-operative evaluation of the parotid mass. This study further investigates the role of FNAC from the standpoint of the clinician attempting to resolve one or more clinical issues. Methods: A retrospective study conducted at two UK Hospitals with no overlap of cytopathologists or surgeons...

article

Influence of seed layers on the microstructure of NiFe layers

B. Warot, J. Imrie, A.K. Petford-Long, J.H. Nickel, more

Journal of Magnetism and Magnetic Materials > 2004 > 272-276 > Supplement > E1495-E1496

Magnetic tunnel junctions are of interest for their application in magnetic random access memory. Structural parameters can influence the homogeneity of the nanojonctions and we report on the influence of the seed layer on the structural and magnetic properties of a NiFe layer in a (Si/Al ₂ O ₃ /seed layer/NiFe/Al ₂ O ₃ /TaN) multilayer where the seed layers are Ta,...

article

Niemann–Pick disease type C in adults

J. Imrie, S. Vijayaraghaven, C. Whitehouse, S. Harris, more

Journal of Inherited Metabolic Disease > 2002 > 25 > 6 > 491-500

Although it is often perceived as a paediatric disorder, significant numbers of patients with Niemann–Pick disease type C present for the first time in adult life or survive into adult life. The presentation in these patients differs from that seen in the classical juvenile form of the disease. Adult patients are often referred to clinicians with psychosis or other major psychiatric problems. The...

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