Publications by authors named "Emer O' Reilly"

Introduction/aims: The evolving landscape of spinal muscular atrophy (SMA) treatment in the United Kingdom allows patients to switch, with health authority approval, from one treatment to another. This retrospective analysis explores the characteristics of pediatric patients across the United Kingdom who switched between available therapies that included nusinersen, risdiplam, and onasemnogene abeparvovec (OA).

Methods: Demographic data were collected, along with indicators of disease severity and motor function scores for all pediatric patients registered with the SMA REACH UK database who received nusinersen or risdiplam as initial treatments.

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Spinal muscular atrophy (SMA) is a neuromuscular disorder of mainly early onset and variable severity. Prior to the introduction of disease modifying therapies (DMTs), children with SMA type 1 typically died before 2 years of age and management was primarily palliative. Onasemnogene abeparvovec (OA), nusinersen, and risdiplam are novel DMTs which ameliorate the effects of the underlying genetic defect at least partially making SMA a treatable condition.

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Article Synopsis
  • Spinal muscular atrophy (SMA) is a genetic disorder leading to muscle weakness due to mutations in the SMN1 gene.* -
  • Onasemnogene abeparvovec (OA) is a gene therapy approved for SMA that was administered to two heavy patients (20 kg) previously treated with another medication, Nusinersen.* -
  • The patients experienced mixed results after receiving OA, including liver issues needing steroids and limited improvement in muscle function, highlighting the importance of weighing risks and benefits for older and heavier SMA patients.*
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Background: Spinal muscular atrophy (SMA) is a neuromuscular disorder characterised by progressive motor function decline. Motor function is assessed using several functional outcome measures including the Revised Hammersmith Scale (RHS).

Objective: In this study, we present longitudinal trajectories for the RHS in an international cohort of 149 untreated paediatric SMA 2 and 3 patients (across 531 assessments collected between March 2015 and July 2019).

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Unlabelled: Background Boys with Duchenne Muscular Dystrophy (DMD) display heterogeneous motor function trajectory in clinics, which represents a significant obstacle to monitoring.

Objective: In this paper, we present the UK centiles for the North Star Ambulatory Assessment (NSAA), the 10 m walk/run time (10MWR) and velocity (10MWRV), and the rise from floor time (RFF) and velocity (RFFV) created from a cohort of glucocorticoid treated DMD boys between the age of 5 and 16 years.

Methods: Participants were included from the UK NorthStar registry if they had initiated steroids (primarily deflazacorts/prednisolone, intermittent/daily) and were not enrolled in an interventional trial.

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Phenylketonuria (PKU) is a rare genetic condition caused by inborn error(s) in the gene for the enzyme phenylalanine hydroxylase. Resulting loss of phenylalanine (Phe) metabolism requires strict dietary therapy and/or medication to prevent toxic accumulation of Phe. Novel investigational therapies, including gene therapies that aim to address underlying causes of PKU, are now entering clinical trials.

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The control of hyperphosphatemia is key to the management of chronic kidney disease mineral and bone disorder. Dietary restriction of phosphorus is essential to control hyperphosphatemia. Guidelines for chronic kidney disease and end-stage kidney disease generally provide high-level guidance on whether a nutrient should be restricted e.

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We summarize how practicing dietitians combined available evidence with clinical experience, to define revised dietary recommendations for phosphorus in chronic kidney disease G3-5D. As well as a review of the evidence base, 4 priority topics were reviewed. These were translated into 3 nutrient level recommendations: the introduction of some plant protein where phosphorus is largely bound by phytate; consideration of protein intake in terms of phosphorus load and the phosphorus to protein ratio; and an increased focus on avoiding phosphate additives.

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In spite of rigorous pre- and post-market reviews of safety, there remains a high level of debate regarding the use of artificial sweeteners in foods. Young children are of particular interest when assessing food chemical exposure as a result of their unique food consumption patterns and comparatively higher exposure to food chemicals on a body weight basis when compared with the general population. The present study examined the intakes of four intense sweeteners (acesulfame K, aspartame, saccharin, sucralose) in the diets of children aged 1-4 years using food consumption and sweetener presence data from the Irish National Pre-school Nutrition Survey (2010-11) and analytical data for sweetener concentration in foods obtained from a national testing programme.

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