Mouse Anti-Human HFE Hybridoma [3B22]

Objective: Rare disease Background: Juvenile hemochromatosis is a rare genetic disease that leads to intense iron accumulation. The disease onset usually occurs before the third decade of life and causes severe dysfunction in various organs. The most classical clinical findings are hypogonadotropic hypogonadism, cardiomyopathy, liver fibrosis, glycemic changes, arthropathy and skin pigmentation. However, secondary hypothyroidism is not reported in these patients. Juvenile hemochromatosis has an autosomal recessive inheritance and might be type 2A or type 2B, due to mutation in either the hemojuvelin gene (HJV) or hepcidin antimicrobial peptide (HAMP) gene. Case Report: A 26-year-old female patient was admitted with a recent history of diabetic ketoacidosis. Three months after that admission, she presented with arthralgia, diffuse abdominal pain, adynamia, hair loss, darkening of the skin and amenorrhea. Severe iron overload was found and findings in the hepatic biopsy were compatible with hemochromatosis. An upper abdominal magnetic resonance imaging (MRI) showed iron deposition in the liver and pancreas and pituitary MRI exhibited accumulation on the anterior pituitary. After 16 months the patient presented with dyspnea and lower limb edema, and cardiac MRI indicated iron deposition in the myocardium. The patient was diagnosed with juvenile hemochromatosis presenting with hypogonadotropic hypogonadism, cardiomyopathy, insulin-dependent diabetes mellitus, and secondary hypothyroidism. A novel homozygous mutation, c.697delC, in the HJV gene was detected. Conclusions: We describe for the first time a severe and atypical case of juvenile hemochromatosis type 2A presenting classical clinical features, as well as secondary hypothyroidism resulting from a novel mutation in the HJV gene.

Influence of separator wettability toward nonaqueous electrolyte was investigated in lithium-ion batteries using high-voltage LiNi0.5Mn1.5O4 cathode. A fluorinated ether of 1,1,2,2-tetrafluoroethyl 2,2,3,3-tetrafluoropropyl ether (HFE) was introduced as a co-solvent into the control electrolyte and polyolefin separator wettability toward nonaqueous electrolyte was effectively enhanced. Even though conductivity of the electrolyte bulk decreased after HFE was introduced, ionic conductivity of the electrolyte-soaking separator increased due to the enhanced separator wettability. From cycling stability of the half cells using high-voltage LiNi0.5Mn1.5O4 cathode, all electrolytes containing 10%, 20% and 30% HFE have superiority to the control electrolyte, and the 20% HFE containing electrolyte is the optimal. Microscopical analysis revealed that oxidative decomposition of HFE-containing electrolyte on the LiNi0.5Mn1.5O4 cathode was suppressed effectively with the thinner cathode electrolyte interface than that in the control electrolyte. In Li4Ti5O12 vertical bar LiNi0.5Mn1.5O4 full cells, the 20% HFE containing electrolyte exhibited the enhanced cycling stability and rate capability compared to the control of 1 mol L-1 LiPF6/propylene carbonate. This work here reveals the effect of fluorinated ether co-solvent on separator wettability and further the superior separator wettability is critical to the oxidation stability of the electrolyte in lithium-ion batteries using high-voltage cathode. (C) The Author(s) 2019. Published by ECS.