Objective To evaluate the validity of original plasma cortisol level and responses to lowdose ACTH stimulation test in assessing the severity of critical illness.Method Original level of cortisol and cortisol concentrations 30 min after administration of a low dose ( 1 μg/1.73m2 ) of cosyntropin were determined within 24 hours after admission to our PICU.Critical illness related cortisol insufficiency was defined by initial level of cortisol ＜ 10 μg/dL or an increment cortisol [ Δmax =Stimulated plasma cortisol level (T1) -initial cortisol level (T0)]≤ 9 μg/dL.Results Ninety-five consecutive patients were admitted to PICU from May 2010 to April 2011.The patients were assigned to severe sepsis group (35/95),major operation group (30/95),and other critical illness group (30/95).Overall mortality was 12.6％ (12/95).The initial and stimulated plasma cortisol levels in three groups were (37.17 ± 47.35 ) μg/dL,(31.52±52.78) μg/dL,(28.61 ±17.45) μg/dL,vs.(50.26±48.21) μg/dL,(58.56±73.21)μg/dL, (42.41 ± 13.56) μg/dL,respectively.There were no significantly differences between above groups ( P ＞ 0.05 ).The incidence of critical illness-related corticosteroid insufficiency (CIRCI) in this study was 55.8％.The incidences of CIRCI were 60％,53.3％,and 53.3％ in severe sepsis,other critical illness and major surgery illness,respectively ( P ＞ 0.05 ).The morbidity of CIRCI and normal response group were 7.5％ and 19％ (P ＞0.05).The levels of T0 and T1 were related to the PCIS (P ＜0.05). Conclusions CIRCI is often seen in children with critical illness. And a low-dose ACTH stimulation test can be used to evaluate the adrenal function in critical illness.However,there is no significant correlation between CIRCI and mortality of critically ill children in this study.

Objective:To explore the inhibitory effect of dihydroartemisinin (DHA ) on the growth of neuroblastoma cells,and to clarify the anti-tumor mechanism of DHA.Methods:The experiment was divided into blank control group and DHA groups (the final concentrations of DHA were 0.05, 0.50, 5.00 and 50.00μmol·L-1 ).The proliferation rates of neuroblastoma SH-SY5Y cells after treated with DHA were examined by MTT assay;the changes of cell cycle of SH-SY5Y cells after treated with DHA were examined by flow cytometry;the expression levels of cyclin D1 and caspase-3 proteins were detected by ELISA and Western blotting methods.Results:The proliferation of SH-SY5Y cells 24,48,and 72 h after treated with different concentrations of DHA were inhibited.Compared with blank control group,the proliferation rates of SH-SY5Y cells in 0.50,5.00 and 50.00μmol·L-1 DHA groups were significantly decreased (P<0.05 or P<0.01).The density of cells was decreased with the increasing of DHA concentration.Compared with blank control group,the percentage of SH-SY5Y cells at SubG1 phase in 50.00μmol·L-1 DHA group was increased (P<0.05),and the percentage of cells at G0/G1 phase was increased first then was decreased;otherwise, the percentages of cells at S and G2/M phase were decreased.Compared with blank control group,the expression level of cyclin D1 protein in 50.00μmol·L-1 DHA group was decreased (P<0.05),but the expression level of caspase-3 protein in 50.00μmol· L-1 DHA group was increased (P<0.05).Conclusion:DHA could inhibit the proliferation through arresting the cell cycle and inducing the apoptosis of neuroblastoma cells.

Objective To explore the significance of long non-coding RNA (lncRNA) taurine up-regulated gene 1 (TUG1) in hepatocellular carcinoma (HCC),to predict the target gene of TUG1,and to provide a ref-erence for further study of TUG1 in HCC.Methods The differential expression of TUG1 in HCC was ana-lyzed by using the UALCAN database and the survival analysis of TUG1 was performed.The target gene of TUG1 was predicted by RegRNA 2.0 biology software,HMDD,targetscan and microT-CDS,and the regulato-ry network of lncRNA TUG1-microRNAs-mRNAs was constructed.The predicted target gene was analyzed by Gene Ontology (GO) and KEGG signal transduction pathway enrichment by using FunRich platform. Results TUG1 expression in HCC was significantly increased,and the expression level of TUG1 increased generally with the increase of tumor grade.The overall survival of patients with low expression of lncRNA TUG1 was significantly longer than that of lncRNA TUG1 high expression patients.There were four possible binding sites of HCC related microRNAs (hsa-mir-122-5p,hsa-mir-200a-3p,hsa-mir-34c-3p,hsa-mir-629-3p) on TUG1,which regulated 245 downstream target genes and formed the regulatory network of lncRNA TUG1-microRNAs-mRNAs.In the biological process,microRNA target genes were highly enriched in the processes such as the regulation of nucleobase,nucleoside,nucleotide and nucleic acid metabolism.In KEGG pathway analysis,microRNA target genes were highly enriched to the signal pathways mediated by Syndecan and TRAIL.Conclusion TUG1 expression level in HCC increased.Increased expression of TUG1 is associat-ed with poor prognosis in HCC.Bioinformatics methods can be used to explore the mechanism of tumorigene-sis from the molecular level,which can provide valuable information for subsequent experiments and clinical diagnosis and treatment.

OBJECTIVE: To detect potential mutations of the PKHD1 gene in two pedigrees affected with infantile polycystic kidney disease. METHODS: Clinical data and peripheral venous blood samples were collected from the probands and their parents as well as fetal amniotic fluid cells. Genome DNA was extracted from the peripheral blood samples and amniotic fluid cells. Exons 32 and 61 of the PKHD1 gene were amplified with PCR and subjected to direct sequencing. RESULTS: The proband of pedigree 1 was found to carry c.4274T>G (p.Leu1425Arg) mutation in exon 32 and c.10445G>C (p.Arg3482Pro) mutation in exon 61 of the PKHD1 gene, which were inherited from her father and mother, respectively. The fetus has carried the c.4274T>G (p.Leu1425Arg) mutation. In pedigree 2, the wife and her husband had respectively carried a heterozygous c.5979_5981delTGG mutation and a c.9455delA mutation of the PKHD1 gene. No chromosomal aberration was found in the umbilical blood sample, but the genetic testing of their fetus was failed. Based on software prediction, all of the 4 mutations were predicted to be pathogenic. CONCLUSION PKHD1 c.4274T>G (p.Leu1425Arg), c.10445G>C (p.Arg3482Pro), c.5979_5981delTGG and c.9455delA were likely to be pathogenic mutations. The results have facilitated genetic counseling and prenatal diagnosis for the two pedigrees.
DNA Mutational Analysis ; Female ; Genetic Counseling ; Humans ; Mutation ; Pedigree ; Polycystic Kidney Diseases ; diagnosis ; genetics ; Pregnancy ; Prenatal Diagnosis ; Receptors, Cell Surface ; drug effects