FRTL cells were incubated in the culture medium containing 10 -6 -10-3 mol/L KI for 24, 48 and 72 h, and the levels of sodium iodide symporter (NIS) mRNA and protein were measured using RT-PCR and Western blot. The levels of NIS mRNA in FRTL cells incubated with different concentrations of iodide for 24 and 48 h showed no significant difference as compared with the control group, however, NIS protein was reduced gradually in FRTL cells incubated with different concentrations of iodide for 48 and 72 h as compared with that in control group. The higher the iodide concentration, the lower the levels of NIS protein. The results show that acute iodine excess does not affect the expression of NIS mRNA, but down-regulates NIS protein expression. Iodine excess may regulate the expression of NIS through post-transcription.

Objective To evaluate the value of the specific quality of life scale in effect evaluation of T2～4 transection of sympathetic chain to treat hyperidrosis of hand and foot. Methods 125 patients with hyperidrosis of hand and foot who had accepted operation in our department were retrospectively analyzed. These patients were evaluated with the specific QOL scale. The degree of satisfaction, days of stay,time of operation and complications were also recorded. The difference of life quality score was also compared and underwent correlation analysis. Results An obvious improvement of QOL was observed after operation. The same tend could be observed in the degree of satisfaction with the operation. The operation had been proved to be safe and effective. Few serious complication were reported. The alleviation of QOL and compensatory hyperhidrosis dominated the result of degree of satisfaction. Conclusions Operation can improve quality of life of hyperhidrosis patients greatly. The specific QOL questionnaire of hyperhidrosis has a bright future in clinical practice.

Objective To investigate the iodine nutrition level of vulnerable people in Inner Mongolia after adjustment of iodized salt standard and to provide theoretical bases for scientific iodine supplementation. Methods In 2013, 3 cities were selected from eastern, central and western parts of Inner Mongolia in accordance with the random number table, 3 or 4 counties were selected from each target city, 5 units according to their sub-area position of east, south, west, north and center were selected from each county, and then 1 township was selected from each unit, 5 groups of target population including school children aged 8- 10, women of childbearing age, pregnant and lactating women and infants each at least 10 people were investigated in each township. Edible salt samples from their homes and urine samples were collected. The direct titration method among the generic methods of iodide testing for salt production industry (GB/T 13025.7-2012) was used to determine the salt iodine level, and As3+-Ce4+catalytic spectrophotometry using ammonium per sulfate digestion (WS/T 107-2009) was used to test the urinary iodine level. Results Totally 3 300 samples of edible salt from local residents had been examined and median iodine was 26.20 mg/kg. The median of urinary iodine was 190.6μg/L of 1 289 school-age children;was 183.6μg/L of 621 women of childbearing age; was 178.2 μg/L o f 876 pregnant women; was 178.6 μg/L of 664 lactating women and was 167.7μg/L of 599 infants. Conclusion After adjustment of iodized salt standard, iodine nutrition level is suitable in all vulnerable people.

Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease with cellular and molecular mechanisms yet to be fully described. Mutations in a number of genes including SOD1 and FUS are associated with familial ALS. Here we report the generation of induced pluripotent stem cells (iPSCs) from fibroblasts of familial ALS patients bearing SOD1 and FUS mutations, respectively. We further generated gene corrected ALS iPSCs using CRISPR/Cas9 system. Genome-wide RNA sequencing (RNA-seq) analysis of motor neurons derived from SOD1 and corrected iPSCs revealed 899 aberrant transcripts. Our work may shed light on discovery of early biomarkers and pathways dysregulated in ALS, as well as provide a basis for novel therapeutic strategies to treat ALS.
Amyotrophic Lateral Sclerosis ; genetics ; metabolism ; therapy ; Cell Line ; Clustered Regularly Interspaced Short Palindromic Repeats ; Genetic Therapy ; Genome-Wide Association Study ; Humans ; Induced Pluripotent Stem Cells ; metabolism ; Mutation, Missense ; RNA-Binding Protein FUS ; genetics ; metabolism ; Superoxide Dismutase-1 ; genetics ; metabolism

Xeroderma pigmentosum (XP) is a group of genetic disorders caused by mutations of XP-associated genes, resulting in impairment of DNA repair. XP patients frequently exhibit neurological degeneration, but the underlying mechanism is unknown, in part due to lack of proper disease models. Here, we generated patient-specific induced pluripotent stem cells (iPSCs) harboring mutations in five different XP genes including XPA, XPB, XPC, XPG, and XPV. These iPSCs were further differentiated to neural cells, and their susceptibility to DNA damage stress was investigated. Mutation of XPA in either neural stem cells (NSCs) or neurons resulted in severe DNA damage repair defects, and these neural cells with mutant XPA were hyper-sensitive to DNA damage-induced apoptosis. Thus, XP-mutant neural cells represent valuable tools to clarify the molecular mechanisms of neurological abnormalities in the XP patients.
DNA Damage ; DNA Repair ; DNA-Binding Proteins ; genetics ; metabolism ; Female ; Humans ; Induced Pluripotent Stem Cells ; metabolism ; pathology ; Male ; Models, Biological ; Mutation ; Neural Stem Cells ; metabolism ; pathology ; Xeroderma Pigmentosum ; genetics ; metabolism ; pathology

Humans ; COVID-19 ; Consensus ; SARS-CoV-2 ; China