Objective To evaluate the effect of small interfering RNA targeting caspase-12 (caspase-12-siRNA) pretreatment on lung ischemia/reperfusion (I/R) injury in mice.Methods Forty male C57BL/6J mice,aged 6-8 weeks,weighing 16-24 g,were randomly allocated into 4 groups (n =10 each) using a random number table:sham operation group (group S),group I/R,negative control group (group NC) and caspase-12-siRNA pretreatment group (group siRNA).Lung I/R was induced by clamping the left pulmonary hilum for 30 min followed by 3 h reperfusion in anesthetized mice in IR,NC and siRNA groups.At 48 h before ischemia,negative control siRNA 20 μg and caspase-12-siRNA 20 μg were instilled intranasally in NC and siRNA groups,respectively,and the total volume was 50 μl.At 3 h of reperfusion,the animals were sacrificed and the left lung was removed for determination of wet/dry lung weight (W/D) ratio and lung water content in lung tissues and for microscopic examination.Pulmonary ultrastructure was examined with electron microscope.The quantitative evaluation index (QEI) for alveolar damage and apoptosis rate were calculated.Results Compared with group S,W/D ratio,lung water content,QEI for alveolar damage and apoptosis index were significantly increased in IR and NC groups,QEI for alveolar damage and apoptosis index were increased in group siRNA (P ＜ 0.05).Compared with IR and NC groups,W/D ratio,lung water content,QEI for alveolar damage and apoptosis index were significantly decreased (P ＜ 0.05),and the pathological changes of lungs were alleviated in group siRNA.There was no significant difference in the indices mentioned above between groups IR and NC (P ＞ 0.05).Conclusion Caspase-12-siRNA pretreatment can attenuate lung I/R injury in mice.

Objective To observe the role and related mechanism of chemerin and its receptor ChemR23 in glomerular endothelial cells (GEnCs) stimulated by high glucose.Methods Mouse GEnCs were cultured and divided into control group,20.0 mmol/L high glucose group,40.0 mmol/L high glucose group and mannitol control group.Then the expressions of interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) in cell culture supematant as well as the expressions of intracellular protein and mRNA of chemerin,ChemR23,IL-6 and TNF-α were detected.Lentiviral transfection targeting ChemR23 was applied before high glucose-or Chemerin-stimulated,and expressions of supernatant and intracellular mRNA of IL-6 and TNF-α were measured.Meanwhile whether p38 mitogen-activated protein kinase (p38 MAPK) pathway was activated by high glucose was detected.The specific inhibitor of p38 MAPK was added prior to high glucose-stimulated,then supernatant and intracellular mRNA expressions of IL-6 and TNF-α was detected.The supernatant expressions of IL-6 and TNF-α were measured by ELISA.The intracellular protein expression and p38 MAPK phosphorylation activity were detected by Western blotting.The mRNA expression was detected by real time PCR.Results Compared with those in the control group,in high glucose groups the expressions of IL-6,TNF-α and chemerin were significantly increased (all P ＜ 0.05),however,the expressions of ChemR23 did not change (all P ＞ 0.05);the supernatant and mRNA expressions of IL-6 and TNF-α were also elevated in the chemerin group (all P ＜ 0.05).Lentivirus baring shRNA could efficiently suppress ChemR23 expression,and the Chemerin-or high glucose-induced expressions of IL-6 and TNF-α were reduced (all P ＜ 0.05).Also it could significantly reduce the expression of phosphorylated-p38 MAPK (p-p38 MAPK) induced by high glucose (P ＜ 0.05),as high glucose group had higher p-p38 MAPK than control group (P ＜ 0.05).While the high glucose-elevated expressions of IL-6 and TNF-α were significantly attenuated by p38 MAPK inhibitor (all P ＜ 0.05).Conclusions High glucose stimulation can induce the expression of chemerin in GEnCs.By binding to ChemR23,chemerin activates p38 MAPK signaling pathway,and then promotes the expressions of IL-6 and TNF-α.These inflammatory cytokines aggravate inflammation of GEnCs.

Objective To investigate the risk factors for stroke in population with family history in rural areas of Zhengzhou. Methods A cluster random sampling method was used to collect 386 residents with family history of stroke from 5 villages of Zhengzhou. The participants were divided into stroke group and non-stroke group according to diagnosis. IBM SPSS STATISTICS 21.0 and SPSS Modeler 14.1 software were used to analyze the data.Results Hypertension, dyslipidemia, atrial fibrillation or arrhythmia, smoking and drinking in stroke group were significantly higher than those of the non-stroke group (P < 0.05). Logistic regression analysis indicated that hypertension (OR=35.705, 95％ CI9.045～140.950, P =0.000) and dyslipidemia (OR=2.669, 95％ CI 1.077～6.614, P = 0.034) were linked with stroke. Artificial neural network (ANN) model indicated the independent variables in predicting stroke were hypertension, dyslipidemia, smoking, drinking and atrial fibrillation or arrhythmia according significance, respectively. The accuracy of the model was 82.0％. Conclusion Among population with family history of stroke, those who had hypertension, dyslipidemia, atrial fibrillation or arrhythmia, smoking and drinking were more susceptible to develop this condition.

Objective? To explore the effect of cognitive behavioral intervention on improving the health literacy of patients with bladder cancer undergoing total cystectomy and ureterodermatostomy. Methods? Totally eighty patients with bladder cancer after radical cystectomy and ureterodermatostomy from December 2016 to June 2018 in a Class Ⅲ Grade A hospital in Harbin were selected and randomly divided into the control group (n=40) and experimental group (n=40). The patients in the control group received routine nursing care whereas the experimental group were treated with cognitive behavioral therapy on the basis of routine nursing care. The effects of intervention in the two groups was compared by the use of Health Literacy Self-rating Scale before and 1 month after intervention. Results? One month after intervention, the total score of health literacy in the experimental group was (101.82±9.43) and that in the control group was (87.87±10.96). The difference was statistically significant (t=6.102, P ＜ 0.05). Conclusions? The cognitive behavioral therapy is an effective way to improve the health literacy of patients with bladder cancer after radical cystectomy and ureterodermatostomy.

Objective To explore the nursing undergraduates' learning experience on the application of formative assessment in 'Basic Nursing Skills of Fundamental Nursing'. Methods A total of 362 nursing undergraduates for the class of 2014 from School of Nursing in University of South China were selected as study subjects by the method of purposive sampling. The formative assessment was used in the course 'Basic Nursing Skills of Fundamental Nursing'. The satisfaction of student nurses with learning this course and learning self-assessment were investigated with the self-designed learning experience questionnaire in the term end. Results The degree of satisfaction of student nurses with course teaching was high. A total 83.7% of them were satisfied with formative assessment. However,49.7% of them were satisfied with personal learning management. The highest degree of learning self-assessment was finding their own shortcomings(84.3%). The second was consolidating what they had learned(83.5%),and the lowest was promoting autonomic learning(71.5%). Conclusions Most of the student nurses recognise the formative assessment of this course with high satisfaction with the course learning and a good learning self-assessment. Teachers should pay attention to improving the independent learning ability of students in teaching.

OBJECTIVE: To explore the genetic etiology of a Chinese pedigree affected with infantile hepatitis syndrome. METHODS: Genes associated with liver diseases subjected to high-throughput sequencing. Candidate variants were validated by Sanger sequencing of the proband and his parents. The pathogenicity of the variants was analyzed through bioinformatic analysis. RESULTS: High-throughput sequencing revealed that the proband has harbored c.182T>C (p.F61S) and c.293C>T (p.P98L) variants of the MPV17 gene, which were verified by Sanger sequencing to be inherited from his parents. The variant c.182T>C (p.F61S) was unreported previously and predicted to be likely pathogenic by bioinformatic analysis. CONCLUSION The proband was caused by the compound heterozygous variations of MPV17 gene including c.182T>C (p.F61S) and c.293C>T (p.P98L). Discovery of the novel variant has enriched the spectrum of pathogenic variants of the MPV17 gene.
China ; DNA, Mitochondrial/genetics* ; Female ; Genetic Testing ; Humans ; Membrane Proteins/genetics* ; Metabolism, Inborn Errors/genetics* ; Mitochondrial Proteins/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis ; Syndrome

OBJECTIVE: To explore the genetic etiology and differential diagnosis for a patient with jaundice. METHODS: Clinical data of the patient and his parents were collected. Genes associated with metabolic liver diseases were subjected to high-throughput sequencing. The pathogenicity of the candidate variants was predicted by using bioinformatics software. RESULTS: High-throughput sequencing revealed that the proband has harbored two variants of the ABCC2 gene (NM_000392) including c.3011C>T (p.T1004I) and c.3541C>T (p.R1181X), which were respectively inherited from his father and mother. Both variants have been previously unreported and predicted to be pathogenic by bioinformatics analysis. CONCLUSION The proband was diagnosed with Dubin-Johnson syndrome due to the compound heterozygous variants of the ABCC2 gene. Genetic testing has enabled accurate differential diagnosis of Dubin-Johnson syndrome in this patient.
Genetic Testing ; High-Throughput Nucleotide Sequencing ; Humans ; Jaundice, Chronic Idiopathic/pathology* ; Multidrug Resistance-Associated Protein 2 ; Multidrug Resistance-Associated Proteins/genetics* ; Mutation

OBJECTIVE: To explore the genetic etiology of a patient with glycogen storage diseases. METHODS: Clinical data of child and his parents were collected. The genes associated with glycogen storage diseases were subjected to high-throughput sequencing to screen the variants. Candidate variant was validated by Sanger sequencing. Pathogenicity of the variant was predicted by bioinformatic analysis. RESULTS: High-throughput sequencing results showed that the boy has carried a hemizygous c.749C>T (p.S250L) variant of the PHKA2 gene. Sanger sequencing verified the results and confirmed that it was inherited from his mother. This variant was unreported previously and predicted to be pathogenic by bioinformatic analysis. CONCLUSION The patient was diagnosed with glycogen storage disease type IXa due to a novel c.749C>T (p.S250L) hemizygous variant of the PHKA2 gene. High-throughput sequencing can facilitate timely and accurate differential diagnosis of glycogen storage disease type IXa.
Child ; Family ; Genetic Testing ; Glycogen Storage Disease/pathology* ; High-Throughput Nucleotide Sequencing/methods* ; Humans ; Male ; Mutation ; Phosphorylase Kinase/genetics*

OBJECTIVE: To assess the value of non-invasive prenatal testing based on cfDNA barcode-enabled single-molecule test (cfBEST) for the prenatal diagnosis of oculocutaneous albinism type I in a family. METHODS: Prenatal genetic diagnosis was carried out by using the cfBEST-based method as well as invasive prenatal diagnosis through amniocentesis. The outcome of the pregnancy was followed up. RESULTS: Non-invasive prenatal testing based on cfBEST showed a fetal DNA concentration of 6.6%, with the proportion of c.929_930insC (p.Arg311Lysfs*7) and c.1037-7T>A mutations being 45.7% and 0%, respectively. The posterior frequency of the negative results was 1, suggesting that the fetus carried neither of the two mutations. The result was consistent with that of invasive prenatal diagnosis, and the follow-up found that the fetus was normal. CONCLUSION Non-invasive prenatal testing based on cfBEST can be used to detect maternal and fetal genotypes in maternal cell-free DNA, which is clinically feasible.
Albinism ; Albinism, Oculocutaneous/genetics* ; Amniocentesis ; Cell-Free Nucleic Acids ; Female ; Humans ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for 29 Chinese pedigrees affected with tuberous sclerosis complex (TSC) and assess efficacy of combined next generation sequencing (NGS) and multiple ligation-dependent probe amplification (MLPA) for the diagnosis. METHODS: NGS and MLPA were used in conjunct to detect variants of TSC1 and TSC2 genes among the probands of the pedigrees. Paternity test was carried out to exclude maternal DNA contamination. Prenatal diagnosis was provided to 14 couples based on the discoveries in the probands. RESULTS: Twenty-seven variants were identified in the TSC1 and TSC2 genes among the 29 pedigrees, which yielded a detection rate of 93.1%. Respectively, 5 (18.5%) and 22 (81.5%) variants were identified in the TSC1 and TSC2 genes. Twelve variants were unreported previously. Prenatal diagnosis showed that five fetuses were affected with TSC, whilst the remaining nine were unaffected. CONCLUSION Above finding has expanded the spectrum of TSC1 and TSC2 gene variants. Combined NGS and MLPA has enabled diagnosis of TSC with efficiency and accuracy.
DNA Mutational Analysis ; Female ; Genetic Testing ; Humans ; Mutation ; Pregnancy ; Prenatal Diagnosis ; Tuberous Sclerosis/genetics* ; Tuberous Sclerosis Complex 1 Protein/genetics* ; Tuberous Sclerosis Complex 2 Protein/genetics*