Measuring patient and carer experience related to paediatric gastrointestinal endoscopy: multicentre questionnaire study.

BACKGROUND: The Paediatric Endoscopy Global Rating Scale (P-GRS) is a quality improvement tool used in the UK. An important aspect of this includes regular surveys on the patient and/or carer's endoscopy experience. The aim of our study was to design and implement a patient/carer experience questionnaire. METHODS: This questionnaire was designed to obtain feedback on patient and/or carer satisfaction with their endoscopy experience. Question selection was based on relevant measures in the endoscopy Global Rating Scale, with input from clinical governance, Patient Advice and Liaison Service and a hospital youth forum. This was distributed to patients and/or carers in three UK paediatric endoscopy services during six surveys between 2013 and 2018. Data were then collated and analysed on Microsoft Excel for Office 365 MSO (16.0.11901.20070). RESULTS: Overall, 830 endoscopic procedures occurred during the six survey periods. 270 questionnaires were returned. Feedback from the questionnaires were mostly positive (overall satisfaction rated 'excellent' or 'good' was seen in 87% of responses) but also identified areas of improvement, such as in managing postprocedure pain and having a separate space for adolescents for preprocedure discussions. Improvements in satisfaction scores were noted in one unit over time, particularly in preprocedure preparation (from 86% to 100%), and overall satisfaction with endoscopy experience (81%-100%). CONCLUSION: All three paediatric endoscopy services found this questionnaire useful in identifying areas needing improvement and in demonstrating compliance with measures within the P-GRS quality of patient experience domain. Further work includes exploring ways to increase response rates, as well as developing age-appropriate and electronic versions.

[3-hydroxy-3-methylglutaryl-CoA lyase deficiency: a case report and literature review]. / Anorexia nerviosa como causa de fallo hepático agudo. A propósito de un caso.

INTRODUCTION: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. Few cases are reported in the literature, and optimal dietary management and long term outcome are not fully understood. CASE REPORT: We report a 2 year old girl with HMG-CoA-lyase deficiency who had limited fasting tolerance on a low protein diet, with several recurrent hospital admissions with severe hypoketotic hypoglycaemia and metabolic acidosis. We also review the dietary management and outcome of other reported cases in the literature. DISCUSSION: In order to define optimal dietary treatment, it is important to collect higher numbers of case studies with detailed dietary management, fasting times and outcome.

Improved Medical Treatment and Surgical Surveillance of Children and Adolescents with Ulcerative Colitis in the United Kingdom.

Background: Pediatric ulcerative colitis (UC) presents at an earlier age and increasing prevalence. Our aim was to examine morbidity, steroid sparing strategies, and surgical outcome in children with active UC. Methods: A national prospective audit was conducted for the inpatient period of all children with UC for medical or surgical treatment in the United Kingdom (UK) over 1 year. Thirty-two participating centers recruited 224 children in 298 admissions, comparisons over 6 years were made with previous audits. Results: Over 6 years, recording of Paediatric Ulcerative Colitis Activity Index (PUCAI) score (median 65)(23% to 55%, P < 0.001), guidelines for acute severe colitis (43% to 77%, P < 0.04), and ileal pouch surgery registration (4% to 56%, P < 0.001) have increased. Corticosteroids were given in 183/298 episodes (61%) with 61/183 (33%) not responding and requiring second line therapy or surgery. Of those treated with anti-TNFalpha (16/61, 26%), 3/16 (18.8%) failed to respond and required colectomy. Prescription of rescue therapy (26% to 49%, P = 0.04) and proportion of anti-TNFalpha (20% to 53%, P = 0.03) had increased, colectomy rate (23.7% to 15%) was not significantly reduced (P = 0.5). Subtotal colectomy was the most common surgery performed (n = 40), and surgical complications from all procedures occurred in 33%. In 215/224 (96%) iron deficiency anemia was detected and in 51% treated, orally (50.2%) or intravenously (49.8%). Conclusions: A third of children were not responsive to steroids, and a quarter of these were treated with anti-TNFalpha. Colectomy was required in 41/298 (13.7%) of all admissions. Our national audit program indicates effectiveness of actions taken to reduce steroid dependency, surgery, and iron deficiency. 10.1093/ibd/izy042_video1izy042.video15769503407001.

Two Cases of Spinal Muscular Atrophy Type II with Eosinophilic Oesophagitis.

Although primarily characterised by loss of motor neurons from the anterior horn of spinal cord and muscle atrophy, spinal muscular atrophy (SMA) is now recognised as a multi-systemic disorder. Here, we report two SMA Type II patients with eosinophilic oesophagitis (EoE), a rare, chronic immune/antigen-mediated condition. One patient presented with dysphagia and poor weight gain, and the second patient had symptoms of gastro-oesophageal reflux (GOR) and poor weight gain. In both patients, macroscopic observations during gastroscopy indicated typical signs of EoE, which were verified during histological examination of oesophageal biopsies. Given that there is a specific treatment strategy for EoE, these cases highlight the importance of considering this condition in clinical investigations - especially for patients with SMA - who have GOR, discomfort, and oral aversion.

3-hydroxy-3-methylglutaryl-CoA lyase deficiency: a case report and literature review / Deficiencia de la 3-hidroxi-3-metilglutaril-CoA liasa: un caso clínico y revisión de la literatura

Introduction: 3-hydroxy-3-methylglutaryl-CoA (HMG-CoA) lyase deficiency is an autosomal recessive disorder that usually presents in the neonatal period with vomiting, metabolic acidosis, hypoglycemia and absent ketonuria. Few cases are reported in the literature, and optimal dietary management and long term outcome are not fully understood. Case report: We report a 2 year old girl with HMG-CoA-lyase deficiency who had limited fasting tolerance on a low protein diet, with several recurrent hospital admissions with severe hypoketotic hypoglycaemia and metabolic acidosis. We also review the dietary management and outcome of other reported cases in the literature. Discussion: In order to define optimal dietary treatment, it is important to collect higher numbers of case studies with detailed dietary management, fasting times and outcome (AU)

Introducción: la deficiencia de la 3-hidroxi-3-metilglutaril-CoA (HMG-CoA) liasa es un desorden autosómico recesivo que normalmente se presenta en la infancia con vómitos, acidosis metabólica, hipoglicemia y sin cetonuria. Se han publicado pocos casos en la literatura científica sobre el mejor tratamiento dietético para el adecuado desarrollo de los pacientes a largo plazo, por lo que esta deficiencia no es bien conocida. Caso clínico: presentamos una niña de 2 años con deficiencia de la 3-hidroxi-3-metilglutaril-CoA (HMG-CoA) liasa. Recibiendo una dieta baja en proteína con una tolerancia de ayuno limitada con episodios recurrentes de admisión hospitalaria con hipoglicemia hipoketotica y acidosis metabólica. También hemos revisado el tratamiento dietético y el desarrollo de otros casos publicados en la literatura científica. Discusión: es importante recoger más casos clínicos describiendo el tratamiento dietético seguido, el tiempo máximo de ayuno y el desarrollo de los pacientes con el objetivo de definir el mejor tratamiento (AU)