Gene Mutation in Type 1 Familial Triglyceridemia Presenting as Recurrent Pancreatitis and Complicated by COVID19.

A 7-year-old girl with recurrent episodes of pancreatitis with risk factor of poorly controlled hyperglyceridemia presented with an acute episode of pancreatitis. She was managed conservatively and underwent whole exome sequencing which showed a likely pathogenic gene mutation. Incidentally, she was diagnosed with COVID-19 on screening, which we hypothesize to have triggered the recent episode.

Clinical exome sequencing uncovers an unsuspected diagnosis of Bartter syndrome type 2 in a child with incidentally detected nephrocalcinosis.

Nephrocalcinosis is a characteristic feature of both type 1 and type 2 Bartter syndrome. Bartter syndrome type 2 presents antenatally and very early in life. Late-onset presentation with isolated nephrocalcinosis is extremely rare.

Determinants of oligomerization of the bifunctional protein DCoHalpha and the effect on its enzymatic and transcriptional coactivator activities.

DCoH and DCoHalpha are bifunctional proteins that function as 4a-hydroxytetrahydrobiopterin dehydratases and as coactivators of HNF1alpha-dependent transcription. Although these isoforms share sequence and structural similarity and equivalent enzyme activities, DCoH is a hyperstable tetramer whereas DCoHalpha readily forms dimers. Differences in quaternary structure affect the formation of the DCoH(alpha):HNF1alpha complex.

Implantation of c-mycER TAM immortalized human mesencephalic-derived clonal cell lines ameliorates behavior dysfunction in a rat model of Parkinson's disease.

Human neural stem cells offer the hope that a cell therapy treatment for Parkinson's disease (PD) could be made widely available. In this study, we describe two clonal human neural cell lines, derived from two different 10-week-old fetal mesencephalic tissues and immortalized with the c-mycER(TAM) transgene. Under the growth control of 4-hydroxytamoxifen, both cell lines display stable long-term growth in culture with a normal karyotype.

Apoptosis induced by crocidolite asbestos in human lung epithelial cells involves inactivation of Akt and MAPK pathways.

Exposure of human lung epithelial (A549) cells to asbestos fibers causes apoptosis, which is largely attributed to release of iron and generation of reactive oxygen species (ROS) within the cells. To mimic the highly oxidative environment generated by asbestos exposure in the absence of the actual fibers, we used two chemicals; buthione sulfoximine (BSO), an inhibitor of glutathione (GSH) synthesis and ferric ammonium citrate (FAC), a source of iron. Here, we report that exposure of A549 cells to crocidolite asbestos led to a significant time-dependent inactivation of signaling proteins, i.

Role of alphavbeta5 integrin receptor in endocytosis of crocidolite and its effect on intracellular glutathione levels in human lung epithelial (A549) cells.

Crocidolite, containing 27% iron by weight, is the most carcinogenic form of asbestos. Crocidolite fibers are endocytized by alphavbeta5 integrin receptors in rabbit pleural mesothelial cells. We show here that crocidolite fibers are endocytized in human lung epithelial (A549) cells and in primary small airway epithelial (SAEC) cells.