Genetics
A timely arrival for genomic medicine Mayer, A. N. Genet. Med. doi:10.1097/GIM.0b013e3182095089
Mayer et al. describe a boy with aggressive treatment-refractory IBD. With no diagnosis and no candidate gene mutations found by conventional testing, all known exons in the boy's genome were sequenced. An XIAP gene mutation was found and XIAP deficiency confirmed; the risk of hemophagocytic lymphohistiocytosis prompted bone marrow transplantation. 5 months post-transplant, Mayer et al. report stable engraftment and no clinical evidence of IBD—as XIAP regulates NOD2 signaling, they had hoped transplantation would benefit the gastrointestinal condition.
Obesity
According to the UK 1990 criteria and US 2000 CDC criteria, the obesity prevalence in children aged 2–5 years is higher in England than the USA. For children aged ≥8 years, however, the obesity prevalence is higher in the USA. The International Obesity Task Force criteria gave lower estimates of obesity prevalence in children aged 2–17 years than country-specific criteria. The US criteria gave the highest estimates in young children and the UK criteria in adolescents. These findings have implications for surveillance and clinical practice.
Transplantation
A new study has shed light on the idea that donor–recipient gender mismatch predicts post-transplant outcomes. Lai et al. have shown that gender differences in donor quality, not gender mismatch, predict graft loss—female donors are significantly older, shorter and more likely to die of stroke than male donors.
Non-alcoholic fatty liver disease
Phototherapy may have potential as a complementary therapy for NASH. In a rat diet-induced NASH model, phototherapy alleviated inflammation, apoptosis of hepatocytes, fibrosis and insulin/leptin resistance. Levels of lipid transfer and metabolic proteins were altered and levels of the circulating active form of vitamin D3 were elevated. Vitamin D3 supplementation alleviated NASH progression in the same rat model.
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In brief. Nat Rev Gastroenterol Hepatol 8, 120 (2011). https://doi.org/10.1038/nrgastro.2011.6
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DOI: https://doi.org/10.1038/nrgastro.2011.6