Seventeen haemophilia B families from Iran were investigated to determine the causative mutation. All the essential regions of the F9 gene were initially screened by conformational sensitive gel electrophoresis and exons with band shift were sequenced. Seven of the 15 mutations identified in these families were novel mutations. The mutations were authenticated in nine families as other affected members or heterozygous female carriers were available for verification.
Overall INP prescribing was found to be safe and effective. This review enabled education of the respiratory team of prescribing practices via a local audit meeting. The positive contribution that INPs provide to patient care was highlighted as they improve the patient journey and support the MDT. The demand for INP prescribing in particular with CF has provided opportunity for a pharmacist prescriber to join the CF MDT. It is recommended medical and pharmacist prescribing to be reviewed.
GOSH lies in caring for patients up to 18 years, adolescent expertise is limited, as it is nationally. Conversely, UCLH has a unique expertise in complex and specialist adolescent care, which could assist the transition planning for those children with the most complex needs. Based on our data, children with motility and functional-GI disorders commonly require a transition plan spanning multiple adult services and require the expertise of the adolescent MDT including psychology, social work, youth work, psychiatry, physiotherapy and occupational therapy. A commissioned joint transition service between GOSH and UCLH would facilitate best practice and provide an exemplar of clinical care for young people with complex health problems.
Aims To explore the relationship of TGA-IgA 5x ULN with histological diagnosis of CD in children referred to a single large tertiary centre. Methods Prospectively recorded data for children diagnosed with CD following endoscopy over 14-year period (September 2006 to August 2020) was analysed. The data included age, sex, reason for screening, indication for endoscopy, TGA-IgA levels at endoscopy, and histological findings. Where quantitative TGA-IgA was unavailable or not recorded were excluded from the analysis. Statistical analysis was performed using c2 analysis and p<0.05 was considered significant. Results 947 children had endoscopy, but 871 had complete data and were included in final analysis. 772/871 received a histological confirmation of CD by Marsh-Oberhuber histological grading (MO-HG) 2 to 3c. 441 had TGA-IgA 5x and 439 (99.5%) had a positive histological diagnosis. The likelihood of a positive biopsy with TGA-IgA 5x titre (439/441) compared to TGA-IgA <5 ULN titre (333/430) has strong statistical significance (p<0.00001). Two children of 441 who had MO-HG <2 actually had TGA-IgA >10 ULN. The mean and median ages of the patients with confirmed CD (n=772) was 8.68 years and 9.1 years respectively (range 0-17 years), with a male to female ratio » 1:2. Figure 1 shows the outcome of the 947 children who had endoscopy. Conclusion This study showed that 99.5% of children with TGA-IgA 5xULN had clear histological confirmation of CD with p<0.00001 compared to TGA-IgA<5xULN. For the same advantages of the current NBP and considering the challenges posed by the COVID-19 pandemic, changing the guidance to TGA-IgA 5xULN appears to be safe and secure for diagnosis of CD in children.
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