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Objective: To test the utility and diagnostic yield of a medical-exome gene panel for identifying pathogenic variants in Mendelian disorders.Methods: Next-generation sequencing was performed with the TruSight One gene panel (targeting 4813 genes) followed by MiSeq sequencing on 216 patients who presented with suspected genetic disorders as assessed by their attending physicians.Results: There were 56 pathogenic and 36 likely pathogenic variants across 57 genes identified in 87 patients. Causal mutations were more likely to be truncating and from patients with a prior clinical diagnosis. Another 18 promising variants need further evaluation for more evidence to meet the requirement for potential upgrade to pathogenic. Forty-five of the 92 clinically significant variants were novel.Conclusion: The 40.3% positive yield compares favourably with similar studies using either this panel or whole exome sequencing, demonstrating that large gene panels could be a good alternative to whole exome sequencing for quick genetic confirmation of Mendelian disorders. [ABSTRACT FROM AUTHOR]

Atopic dermatitis (AD) is a common chronic, pruritic skin disease in children. As the incidence of AD increases, especially in high-income countries, paediatricians may see an increasing number of recalcitrant AD cases in their practice. Although these cases are principally managed by paediatric dermatologists, it is important for paediatricians to be aware of the use and side effects of non-topical treatment like phototherapy and systemic agents as well as the evidence for alternative treatment, which caregivers may ask about. This review presents paediatric evidence for the practical use of phototherapy and certain oral immunosuppressants for paediatric AD including doses, duration of use and monitoring of adverse effects. The use of alternative therapy including traditional medicine, probiotics and the role of nutrition are also discussed. Narrow band ultraviolet B phototherapy is effective in recalcitrant paediatric AD. When phototherapy is ineffective or contraindicated, systemic drugs may be administered cautiously with close surveillance of side effects. The use of azathioprine, ciclosporin, methotrexate and mycophenolate mofetil is generally safe in the short term under close monitoring and can be effective alongside compliance to topical treatment. Alternative complementary treatment is not known to be effective. Holistic management including therapeutic patient education is important. Good quality paediatric studies for non-topical AD treatment are needed for definitive guidelines. [ABSTRACT FROM AUTHOR]

Competing Interests: Competing interests: None declared.