ItemA Comparison of Continuous Wound Infiltration Plus Patient Controlled Analgesia Versus Epidural Analgesia after Open Renal Surgery(Openventio, 2020-06-03) Thompson, Elizabeth; Green, Adam; Hartsilver, Emma; Stott, Mark; Meikle, Katharine; Ormerod, Victoria; Lilaonitkul, Maytinee; Powell, Roy ItemPresentation of newly diagnosed type 1 diabetes in children and young people during COVID-19: a national UK survey(BMJ, 2020-11-02) Ng, S. M.; Woodger, K.; Regan, F.; Soni, A.; Wright, N.; Agwu, J. C.; Williams, E.; Timmis, A.; Kershaw, M.; Moudiotis, C.; Drew, J.In the UK, there have been reports of significant reductions in paediatric emergency attendances and visits to the general practitioners due to COVID-19. A national survey undertaken by the UK Association of Children's Diabetes Clinicians found that the proportion of new-onset type 1 diabetes (T1D) presenting with diabetes ketoacidosis (DKA) during this COVID-19 pandemic was higher than previously reported, and there has been an increase in presentation of severe DKA at diagnosis in children and young people under the age of 18 years. Delayed presentations of T1D have been documented in up 20% of units with reasons for delayed presentation ranging from fear of contracting COVID-19 to an inability to contact or access a medical provider for timely evaluation. Public health awareness and diabetes education should be disseminated to healthcare providers on the timeliness of referrals of children with T1D. ItemRecurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy(Wiley, 2020-02-01) Bryen, S. J.; Ewans, L. J.; Pinner, J.; MacLennan, S. C.; Donkervoort, S.; Castro, D.; Töpf, A.; O'Grady, G.; Cummings, B.; Chao, K. R.; Weisburd, B.; Francioli, L.; Faiz, F.; Bournazos, A. M.; Hu, Y.; Grosmann, C.; Malicki, D. M.; Doyle, H.; Witting, N.; Vissing, J.; Claeys, K. G.; Urankar, K.; Beleza-Meireles, A.; Baptista, J.; Ellard, S.; Savarese, M.; Johari, M.; Vihola, A.; Udd, B.; Majumdar, A.; Straub, V.; Bönnemann, C. G.; MacArthur, D. G.; Davis, M. R.; Cooper, S. T.We present eight families with arthrogryposis multiplex congenita and myopathy bearing a TTN intron 213 extended splice-site variant (NM_001267550.1:c.39974-11T>G), inherited in trans with a second pathogenic TTN variant. Muscle-derived RNA studies of three individuals confirmed mis-splicing induced by the c.39974-11T>G variant; in-frame exon 214 skipping or use of a cryptic 3' splice-site effecting a frameshift. Confounding interpretation of pathogenicity is the absence of exons 213-217 within the described skeletal muscle TTN N2A isoform. However, RNA-sequencing from 365 adult human gastrocnemius samples revealed that 56% specimens predominantly include exons 213-217 in TTN transcripts (inclusion rate ?66%). Further, RNA-sequencing of five fetal muscle samples confirmed that 4/5 specimens predominantly include exons 213-217 (fifth sample inclusion rate 57%). Contractures improved significantly with age for four individuals, which may be linked to decreased expression of pathogenic fetal transcripts. Our study extends emerging evidence supporting a vital developmental role for TTN isoforms containing metatranscript-only exons. ItemHierarchical regression of ASA prediction model in predicting mortality prior to performing emergency laparotomy a systematic review.(Elsevier, 2020-12-01) Akhtar, Muzina; Donnachie, Douglas J.; Siddiqui, Zohaib; Ali, Norman; Uppara, MallikarjunaBACKGROUND: In light of increasing litigations around performing emergency surgery, various predictive tools are used for prediction of mortality prior to surgery. There are many predictive tools reported in literature, with ASA being one of the most widely accepted tools. Therefore, we attempted to perform a systematic review and meta-analysis to conclude ASA's ability in predicting mortality for emergency surgeries. METHODS: A wide literature search was conducted across MEDLINE and other databases using PubMed and Ovid with the following keywords; "Emergency laparotomy", "Surgical outcomes", "Mortality" and "Morbidity." A total of 3989 articles were retrieved and only 11 articles met the inclusion criteria for this meta-analysis. Data was pooled and then analysed using the STATA 16.1 software. We conducted hierarchal regression between the following variables; mortality, gender, low ASA (ASA 1-2) and high ASA (ASA 3-5). RESULTS: 1. High ASA was associated with a higher rate of mortality in males with 'p' value of 0.0001 at alpha value of 0.025. 2. The female gender itself showed a significantly high mortality rate, irrespective of low ASA or high ASA with 'p' value of 0.04 at alpha value of 0.05. 3. ITU admissions with a high ASA had a greater number of deaths compared to low ASA. 'p' value of 0.0054 at alpha value of 0.01. CONCLUSION: Higher ASA showed a direct association with mortality and the male gender. The female gender was associated with a higher risk of mortality regardless of the ASA grades. ItemNIMO-CKD-UK: a real-world, observational study of iron isomaltoside in patients with iron deficiency anaemia and chronic kidney disease.(BioMed Central, 2020-12-10) Kalra, Philip A.; Bhandari, Sunil; Spyridon, Michael; Davison, Rachel; Lawman, Sarah; Mikhail, Ashraf; Reaich, David; Pritchard, Nick; McCafferty, Kieran; Moore, JasonBACKGROUND: Intravenous iron is often used to treat iron deficiency anaemia in non-dialysis chronic kidney disease (ND-CKD), but the optimal dosing regimen remains unclear. We evaluated the impact of high- versus low-dose intravenous iron isomaltoside on the probability of retreatment with intravenous iron in iron-deficient ND-CKD patients. METHODS: This real-world, prospective, observational study collected data from 256 ND-CKD patients treated for anaemia in the UK. Following an initial course of iron isomaltoside, patients were followed for ?12?months. Iron dose and the need for retreatment were determined at the investigators' discretion. The primary study outcome was the need for retreatment at 52?weeks compared between patients who received >1000?mg of iron during Course 1 and those who received ?1000?mg. Safety was evaluated through adverse drug reactions. RESULTS: The probability of retreatment at Week 52 was significantly lower in the >1000?mg iron group (n?=?58) versus the ?1000?mg group (n?=?198); hazard ratio (95% confidence interval [CI]): 0.46 (0.20, 0.91); p?=?0.012. Mean (95% CI) haemoglobin increased by 6.58 (4.94, 8.21) g/L in the ?1000?mg group and by 10.59 (7.52, 13.66) g/L in the >1000?mg group (p?=?0.024). Changes in other blood and iron parameters were not significantly different between the two groups. Administering >1000?mg of iron isomaltoside saved 8.6 appointments per 100 patients compared to ?1000?mg. No serious adverse drug reactions were reported. Of the patients who received ?1000?mg of iron in this study, 82.3% were eligible for a dose >1000?mg. CONCLUSIONS: The >1000?mg iron isomaltoside regimen reduced the probability of retreatment, achieved a greater haemoglobin response irrespective of erythropoiesis-stimulating agent treatment, and reduced the total number of appointments required, compared to the ?1000?mg regimen. Many of the patients who received ?1000?mg of iron were eligible for >1000?mg, indicating that there was considerable underdosing in this study. TRIAL REGISTRATION: ClinicalTrials.gov NCT02546154 , 10 September 2015.