Objective To observe the change of the level of blood ghrelin in the children with anorexia and its relationship with insulin sensitivity.Methods Height,weight,body mass index(BMI)of 40 children in anorexia group,20 healthy children in control group were measured;the level of blood grelin,insulin and blood glucose were determined;insulin sensitivity index(ISI) was calculated,then the results in both groups were analyzed.Results Levels of height,weight and BMI in anorexia group were significantly lower than those of control group.The ghrelin and ISI levels in anorexia group were significantly higher than those in control group,but the insulin and glucose levels were significantly lower in anorexia group than those in control group,the differences were significant.Ghrelin level showed negative correlation with insulin and blood glucose concentration in both groups and positive correlation with ISI level.Conclusions The decrease of appetite in children with anorexia may not necessarily result from under-secretion of ghrelin.The increase of insulin sensitivity in children with anorexia may be a response to high level of ghrelin secretion.

Objective To explore the effect of multi-disciplinary team (MDT) combined with bundle management on prevention and control of multidrug-resistant organism (MDRO) infection in the intensive care unit(ICU).Methods Patients who were admitted to the ICU in a tertiary first-class hospital from January 2013 to December 2015 were studied,MDT combined with bundle management has been applied in the prevention and control of MDRO infection in ICU since January 2014,continuous quality improvement program was performed one year later,isolation of MDROs from specimens of ICU patients before implementation(in the year of 2013),after implementation(in the year of 2014),and after continuous quality improvement(in the year of 2015) was compared.Results The infection rates of MDROs in ICU patients before implementation,after implementation,and after continuous quality improvement were 26.55％ (154/580),17.13％ (117/683),and 12.01％ (77/641) respectively,showing a downward trend,with a significant difference (x2 =44.030,P＜0.001);the total isolation rates of MDROs in ICU patients were 64.44％(154/239),63.59％(117/184),and 43.26％ (77/178) respectively,showing a downward trend,with a significant difference (x2 =22.284,P＜0.001).The main MDROs in ICU were multidrug-resistant (MDR) and pandrug resistant(PDR) Acinetobacterbaumannii (44.54％).Conclusion MDT combined with bundle management can decrease MDRO infection rate and isolation rate in ICU.

OBJECTIVETo investigate the pathogenesis of inherited coagulation factor VII (FVII) deficiency.

METHODSThe diagnosis was validated by coagulant parameter assay. FVII gene mutations were analysed in the proband by DNA direct sequencing of PCR products of all exons, exon-intron boundaries and the 3', 5'untranslated sequences. The mutations were confirmed by reverse sequencing. The ectopic transcripts of RT-PCR were used to confirm the characteristics of the mutation in non-canonical splice site (IVS1a + 5g > a).

RESULTSDouble heterozygous mutations in the propositus were identified: a T to G mutation at position 10961, resulting in His348Gln substitution, a non-canonical splice site (IVS1a + 5g > a) mutation, causing the new model of splice and frameshift mutation.

CONCLUSIONDouble heterozygous mutations of His348Gln and IVS1a + 5g > a were identified in a propositus, the splicing pattern of the IVS1a + 5g > a mutation was reported for the first time.

Amino Acid Sequence ; Base Sequence ; Factor VII ; genetics ; Factor VII Deficiency ; genetics ; Heterozygote ; Humans ; Molecular Sequence Data ; Mutation, Missense ; RNA Splicing

To investigate the effects of 3-hydroxy-3-methylglutaryl coenzyme A reductase inhibitor simvastatin (SV) on proliferation, apoptosis and the PI3K/AKT signaling pathway in human acute monocytic leukemia cell line SHI-1. SHI-1 cells were incubated with different concentrations of SV (5, 10, 15 µmol/L). Otherwise, SHI-1 cells without any treatment were used as control. Cells in different groups were collected at 24, 48 and 72 h after incubation for further detection. MTT method was used to assay the growth inhibition rate and flow cytometry was used to detect the early stage apoptosis ratio. The human PI3K-AKT Signaling Pathway RT(2) Profiler(TM) PCR Array was used to detect the expression of 84 genes involved in PI3K-AKT signaling. The results indicated that the SV inhibited the proliferation and inducted the apoptosis of SHI-1 cells in time- and dose-dependent manners significantly. The growth inhibition rates of SHI-1 cells treated with 15 µmol/L SV for 24, 48 and 72 h were 26.82, 47.09 and 63.92, respectively; and their early stage apoptosis ratios were 5.75, 13.25 and 15.59, respectively. Compared with the control group, expression levels of 39 genes were changed in the group of 15 µmol/L SV at 48 h, among them 26 genes were down-regulated and 13 genes were up-regulated. It is concluded that the SV can inhibit proliferation and induce apoptosis of SHI-1 cells, and the mechanism may be associated with the changes of gene expression level in PI3K-AKT signaling pathway regulated by SV.
Apoptosis ; drug effects ; Cell Line, Tumor ; Cell Proliferation ; drug effects ; Down-Regulation ; Gene Expression Regulation, Leukemic ; Humans ; Leukemia, Monocytic, Acute ; metabolism ; Phosphatidylinositol 3-Kinases ; metabolism ; Proto-Oncogene Proteins c-akt ; metabolism ; Signal Transduction ; drug effects ; Simvastatin ; pharmacology

OBJECTIVETo investigate the genotypes of mutations of an inherited coagulation factor VII(F VII) deficiency pedigree.

METHODSThe diagnosis was validated by coagulant parameters. F VII gene mutations were analysed in the proband and her family members by DNA direct sequencing. The PCR fragments were cleaved by the Msp I restriction enzyme to confirm the mutations detected by sequencing was performed in this study.

RESULTSDouble heterozygous mutations at the same coding site of amino acid were detected in propositus of the pedigree: a C to T mutation at position 11348 resulting in Arg304Trp substitution combined with a G to A mutation at position 11349 resulting in Arg304Gln substitution. Her farther had a G to A mutation at position 11349 and her mother had a C to T mutation at position 11348, respectively. Both were heterozygous mutations. One of her brothers had normal genotype, the other brother and all her three offsprings had heterozygous mutations.

CONCLUSIONDouble heterozygous mutations coding the same amino acid were found in a pedigree with hereditary coagulation factor VII deficiency.

DNA Mutational Analysis ; Factor VII ; genetics ; Factor VII Deficiency ; genetics ; Female ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree

Cardiomyopathy, Dilated/genetics* ; Humans ; Muscular Dystrophy, Duchenne

Humans ; Kounis Syndrome/complications* ; Takotsubo Cardiomyopathy/complications*

Objective:To investigate the protective effect of ferulic acid on PC12 cells injured by H₂O₂ and the molecular mechanisms. Method:The oxidative stress model was established by treating PC12 cells with H₂O₂, and then different dosages of ferulic acid (1, 10, 100 μmol·L^-1) were used for intervention. Methyl thiazolyl tetrazolium (MTT) assay was used to evaluate the cell viability,lactate dehydrogenase (LDH) and malondialdelyde (MDA) in cell supernatant, and superoxidedismutase (SOD) in cells was tested by biochemical method respectively. Insulin-like growth factors-1 (IGF-1) mRNA and protein expressions were detected by Real-time fluorescence quantitative polymerase chain reaction(Real-time PCR) and Western blot. Result:The 24 h intervention with different dosages of ferulic acid (1, 10, 100 μmol·L^-1) could significantly improve the oxidative damage of PC12 cells induced by H₂O₂, compared with the model group, ferulic acid at 1,10,100 μmol·L^-1 significantly increased PC12 cells viability,significantly decreased LDH and MDA content in cell supernatant (P<0.05, P<0.01), and enhanced SOD activity(P<0.01). Real-time PCR and Western blot showed that compared with control group,IGF-1 mRNA and protein expressions in model group decreased significantly (P<0.01), compared with model group, IGF-1 mRNA and protein expressions in ferulic acid group increased significantly (P<0.01). Conclusion:Ferulic acid exerts a protective effect on H₂O₂-inducing PC12 cells injury,which might be related to insulin signaling pathways.

ObjectiveTo explore the role of structural MRI in the diagnosis of spinocerebellar ataxia type 3 （SCA3） and further evaluate its correlation with disease severity and disease duration. MethodsWe prospectively enrolled 81 genetically diagnosed SCA3 patients ［59 symptomatic （sym-SCA3） and 22 pre-symptomatic （pre-SCA3）］ and 35 age- and sex-matched healthy controls （HCs）. MRI structural images （3D T1 MPRAGE） and clinical data of all subjects were collected. Three observers with different radiological experience measured the width of the superior， middle and inferior cerebellar peduncle （SCP， MCP and ICP）， the anterior-posterior diameters of the pons and spinal cord at the levels of the foramen magnum and upper edge of the 3rd-5th cervical vertebra. One observer performed the measurements again 2 months later to assess for the intra- and inter-observer reliability， respectively. One-way ANOVA， rank-sum test， ROC curve and Random Forest were used to evaluate the diagnostic value of the above metrics for SCA3， and the correlation between the metrics and clinical variables was analyzed. ResultsNot depending on the radiological experience， the metrics based on morphological MRI showed high intra- and inter-observer reliability， among which bilateral superior and middle cerebellar peduncles performed best. The diameters of bilateral SCP， MCP， ICP， pons and spinal cord （except spinal cord at the level of the upper edge of the 5th cervical vertebra） decreased successively in HCs， pre-SCA3 and sym-SCA3 with a statistical difference （P<0.017）. ROC analysis revealed that the left MCP had the highest diagnostic value for pre-SCA3 （AUC=0.911）， with sensitivity， specificity and a cut-off value of 85.7%， 95.5% and 10.15 mm， respectively. In contrast， the right SCP had the highest diagnostic value for sym-SCA3 （AUC=0.999）， with sensitivity， specificity and a cut-off value of 100%， 98.3% and 2.62 mm， respectively. The Random Forest model based on the above metrics also had high diagnostic efficiency （AUC= 0.970， specificity=93.1%）， and the left MCP contributed the most. Correlation analysis showed that the above metrics had a significantly or moderately negative correlation with the Scale for the Assessment and Rating of Ataxia （SARA） and disease duration （P<0.05）. ConclusionNot depending on radiological experience， measurements of brain structure based on morphological MRI are reliable， which can help diagnose SCA3 and predict disease severity and duration. The left MCP and the right SCP perform best for predicting pre-SCA3 and sym-SCA3， respectively. Therefore， the structural MRI is recommended for assisting the clinical diagnosis of SCA3.

【Objective】 To learn the production efficient of platelet components among prefecture-level blood stations in China, to provide supporting data for those blood stations to optimize the production mode of platelet components and continuously improve production efficiency and supply capacity. 【Methods】 The data from 2017 to 2020 was obtained from 24 prefecture-level blood stations who were the members of the practice comparison network for blood institutes in China. The collection units of apheresis platelets, the number of dual-collections of apheresis platelets and plasma, the average apheresis units of one platelet apheresis procedure, the discarded rate of apheresis platelets, the amount of expired apheresis platelets and the amount of apheresis platelets issued were collected. For concentrated platelets, the prepared amount of platelet concentrates and the amount of expired platelet concentrates were collected; both the quantity of qualified and issued concentrated platelets were submitted for statistical analysis.The total output and efficiency of platelet components were calculated based on the collected data. 【Results】 The average annual growth rate of apheresis platelets collection in 24 prefecture-level blood stations was 12.23%, accounting for 99.80% of the total platelet output; the average collection unit of one platelets apheresis procedure was 1.75; from 2019 to 2020, only 5 blood stations performed dual-collection of platelet and plasma during one apheresis procedure; the discarded rate of apheresis platelets was 0.28%, of which 0.007% was due to expiration. A total of 1 621.2 therapeutic units of concentrated platelets were prepared, and 13.03% of them was discarded due to the expiration. The production efficiency of platelet components was 97.56%, of which the production efficiency of apheresis platelets was 97.61% and the production efficiency of concentrated platelets was 74.43%. 【Conclusion】 There are large regional differences in the supply capacity of platelet components in prefecture-level blood stations. Apheresis platelets are the main resource of platelet components product, and the collection capacity is increasing over the years with the characteristics of high production efficiency and low expiration scrapping rate. However, the preparation of concentrated platelets are still limited with relatively low production and high expiration discarded rate.