Objectives: Mutations in Myosin 5B (MYO5B) are known to be associated with microvillous inclusion disease (MVID) a genetic cause of neonatal intractable diarrhoea. More recently, they have been reported in children with cholestasis but without typical gastrointestinal symptoms of MVID. We describe our series of children with cholestasis and mutations in MYO5B. Methods: Clinical, laboratory, and histological data were collected from patients with cholestasis and pathogenic mutations in MYO5B, found by next generation sequencing (NGS) but with minimal gastrointestinal disease. Results: Six patients (3 boys) were identified. Median age at presentation was 19 months (range, 3–92). Presenting features were jaundice, pale stools, pruritus, and failure to thrive. Patients 5 and 6 had intractable diarrhoea until the age of 3 and 7 years, respectively, but currently are on full enteral diet with no intestinal symptoms. Median values for serum total bilirubin were 55 μmol/L (2–500), alanine aminotransferase 73I IU/L (32–114), γ-glutamyltransferase 7 IU/L (7–10), and serum bile acids 134 μmol/L (18–274). Three patients underwent 1 or more types of biliary diversion for symptom control. Median follow-up was 5 years (2–22). At most recent follow-up, they all reported pruritus while on antipruritics. Patient 1 had a liver transplant. Conclusions: We identified 6 patients, with mutations in MYO5B, early-onset cholestasis and pruritus, with variable response to biliary diversion without typical MVID.

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AimsIn September 2014 a new neonatal speciality doctor role was created in a busy central London teaching hospital. The remit was to enhance patient and parent experience on post natal ward. Timely and expert senior review of infants with any extra care needs were prioritised. It was anticipated that this might result in earlier intervention where needed and facilitate earlier discharge in well infants. Post natal reviews were previously managed by junior peadiatric trainee doctors. Babies who are screened and treated in view of a risk for sepsis and are on IV antibiotics form the majority of the cohort who were deemed to require early review. We aimed to demonstrate that this post would improve family centred care with a reduced length of hospital stay resulting in cost saving for the trust.MethodsA database was created with contemporaneous recording of septic screens, number of antibiotic doses, length of stay and sepsis related readmissions. Two years of activity were recorded, one pre and one post the specialty doctor appointment.ResultsDuring the 2 year study period, of 10,768 live born infants, 1,425 babies were screened and treated for risks for sepsis and received IV antibiotics in the postnatal ward. Each day of a postnatal ward stay without consumables costs £365.31. Results are shown in the table below:Abstract G193(P) Table 1Results of activity pre and post the specialty doctor appointmentYear 1Year 2Number of babies731694No of antibiotic doses49043430Length of stay (days)26301870Reduction of doses1474Reduction of antibiotic days760 daysSaving£277635.6There were no sepsis related readmissions.ConclusionA significant reduction in antibiotic doses and IV antibiotic related length of stay was observed with an estimated cost saving of £270,000 pa. The presence of an experienced clinician on postnatal ward appears cost effective and beneficial for the patient experience.

AimsApproximately 10% of neonates on postnatal wards deemed to be at risk of sepsis are screened and treated with intravenous (iv) antibiotics until blood culture (BC) results are available (NICE guideline). C-reactive protein (CRP) and clinical wellbeing are assessed, but a negative BC result after 36 or 48 hours is the gold standard with regard to stopping antibiotics and discharging babies home. Our aim was to review the time taken to process BCs and hence report BC results and the impact on length of stay.MethodsData were collected on all babies who were screened for risk factors for sepsis and received iv antibiotics on the postnatal ward of a maternity unit with 5500 deliveries per annum, between September 2013 and August 2014. The time between BC collection and the BC being processed, i.e., the time from the BC being sent from the neonatal unit and incubation beginning in the laboratory, and the result being reported were recorded for all babies.ResultsSix-hundred and ninety-three babies were screened and treated for risk factors during the study period, two infants admitted to NICU were excluded. In total, the 691 infants received 3430 doses of iv cefotaxime and occupied 1870 bed days. There was only one positive BC and this was due to Group B Streptococcus. The time between collection of the BC and onset of processing ranged between 1 and 72 hours. In 83 babies, who had negative blood cultures and a CRP <20 on two occasions, the mean length of stay was 5.1 days (total 426 days). If the BCs had been processed immediately and the BCs reported in 36 or 48 hours, this would have resulted in a reduction of 301 or 260 postnatal days’ admission respectively. The resultant costs of care saving would have been £1 09 958 and £94 980 respectively.ConclusionTimely processing of blood cultures would facilitate earlier discharge. Decreasing length of stay would result in significant cost savings and increases bed availability on busy maternity units.