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.
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.
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