Articles: manganese.
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TMEM165-CDG has first been reported in 2012 and manganese supplementation was shown highly efficient in rescuing glycosylation in isogenic KO cells. The unreported homozygous missense c.928G>C; p. Ala310Pro variant leading to a functional but unstable protein was identified. ⋯ This fully suppressed the N-; O- and GAG hypoglycosylation. There was also striking improvement in biochemical parameters and in gastrointestinal symptoms. This study offers exciting therapeutic perspectives for TMEM165-CDG.
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Cirrhosis is associated with diffuse brain manganese deposition, which results in increased signal intensity (SI) in the brain on T1-weighted images, most often visualized in the globus pallidus. The purpose of this study was to determine if automated image intensity measurements can detect SI differences in the basal ganglia and other regions reported to have manganese deposition in patients with cirrhosis compared with controls. ⋯ Automatic assessment of T1 SI allows for rapid, objective identification of widespread T1 shortening associated with manganese deposition in cirrhosis, consistent with the global deposition of neurotoxic manganese seen in pathology studies. This automated T1 assessment may have broader utility for other conditions beyond cirrhosis impacting T1 SI.