Objective:To reveal the differentially expressed genes and long non-coding RNAs (lncRNAs) by sequencing the transcriptome of bovine alveolar macrophages (BAM) infected with Bacillus Calmette-Guérin (BCG) and analyzing their bioinformations, and to provide theoretical foundation for the research on immune regulation mechanism of anti-infection of Mycobacteriumtuberculosisof macrophages.Methods:The BAM were collected by pulmonary lavage and centrifugation and cultured and divided into infected group and uninfected group.After infection for 12hin infected group, the expression profiles of mRNA and lncRNA in infected group and uninfected group were detected by RNA-Seq, and bioinformatics analysis was carried out.Results:compared with uninfected group, there were 119differentially expressed lncRNAs and 1111differentially expressed mRNA in infected group (P＜0.05) .Gene Ontology functional enrichment analysis showed that the most significant enrichment was immune response (GO:0006955, P＜0.05) , including 125genes, in which 63 were up-regulated and 62 were downregulated, and the expressions of proinflammatory factors interleukin-1 (IL-6) , interleukin-7 (IL-7) , and interleukin-23A (IL-23A) were up-regulated.Cis target gene prediction and KEGG pathway analysis showed that the differentially expressed lncRNAs were involved in the regulation of transforming growth factor-β (TGF-β) signaling pathway and ATP-binding cassette transporter (ABC transporter) signaling pathway (P＜0.05) .Conclusion:The host cells are stimulated to produce a strong immune response after the BAM are infected by BCG and results in the changes of lncRNA and mRNA expression profiles.

Objective To compare the consistency and detection rate of early gastric cancer (EGC) of three different methods including anti-Helicobacter pylori (Hp) antibody combined with pepsinogen (PG) (ABC method),serum PG combined with gastrin-17 (G-17) (new ABC method) and the new scoring system.Methods Serological tests were performed in Zhejiang population,which divided the subjects into low risk,intermediate risk and high risk groups.High risk subjects were examined by endoscopic and pathological examination.SPSS19.0 were used to evaluate the consistency of three methods.According to the receiver operating characteristic (ROC) curve,the ratio of G-17 to PG (PGR) was calculated for the optimal diagnostic cut-off value of EGC.Results A total of 30 126 subjects were recruited.Based on the data of ABC method,the proportions of low risk,intermediate risk and high risk group were 15 368 (51.01％),13 246 (43.97％),and 1 512 (5.02％),respectively.These proportions by the new ABC method were 20 584 (68.32％),8 990 (29.84％),552 cases (1.83％),respectively.By new scoring system,these were 20 810 (69.08％),8 059 (26.75％),and 1 257 (4.17％),respectively.Among them,1 263 subjects underwent endoscopy and 22 cases (1.74％) were finally diagnosed as gastric cancer including 19 EGC (86.4％).There were 1 case (0.35％),14 cases (1.84％),and 7 cases (3.21％) with gastric cancer in low risk,intermediate risk,and high risk groups by ABC methods,respectively.Gastric cancer patients were 7 (1.68％),10 (1.38％),and 5 (4.10％) in three groups respectively by new ABC methods.Via new scoring system,gastric cancer were detected in 5 (0.66％),9 (2.22％),and 8 (7.84％) patients of three risk groups respectively.The consistency of three screening methods was poor.The detection rate of gastric cancer in high risk group was higher than that in the other two (P＜0.05).The area under the curve (AUC) for diagnosis of gastric cancer by G-17 and PGR was 0.588 and 0.729,respectively.According to the PGR cut-off value determined by the fitted model,the incidence of gastric cancer in the low,intermediate and high risk groups was 0.94％,1.97％,and 6.31％,respectively.When the cut-off value is PGR＜4.135,the sensitivity is 0.855 and the specificity is 0.545.Conclusion The new scoring system has a better predictive value in EGC screening.The detection rate of EGC in high risk group is higher than that in low and intermediate risk groups.

OBJECTIVE: To explore the clinical characteristics and molecular basis for a Chinese boy affected with jaundiced skin and liver disease. METHODS: The patient was subjected to clinical examination and laboratory tests. Genomic DNA of the patient and his parents was extracted and analyzed by using next generation sequencing (NGS). Suspected mutations were analyzed with bioinformatic software and verified by Sanger sequencing. RESULTS: The patient had jaundice in his eyes and skin. Serum bilirubin was elevated along with hepatomegaly. Next generation sequencing showed that the patient has carried c.18C>A(p.C6X) and c.2556delA mutations in the MRP2 gene, which were respectively inherited from his father and mother. CONCLUSION The missense mutation c.18C>A and frameshift mutation c.2556delA probably account for the disease. NGS has provided a powerful tool for the diagnosis of rare genetic diseases including Dubin-Johnson syndrome.
Asian Continental Ancestry Group ; DNA ; High-Throughput Nucleotide Sequencing ; Humans ; Jaundice, Chronic Idiopathic ; Male ; Mutation

OBJECTIVE: To identify potential mutations of the CLS gene in a Chinese pedigree affected with Coffin-Lowry syndrome. METHODS: Whole exome sequencing was applied to detect potential mutation in the proband, and the result was verified by Sanger sequencing. RESULTS: The proband was found to carry a c.966_967delAA (p.Arg323Thr fs*11) deletional mutation in the RPS6KA3 gene. The same mutation was also found in his mother. CONCLUSION The c.966_967delAA (p.Arg323Thr fs*11) deletional mutation of the RPS6KA3 gene probably underlies the disorder in this pedigree.
Asian Continental Ancestry Group ; China ; Coffin-Lowry Syndrome ; genetics ; Humans ; Mutation ; Pedigree ; Ribosomal Protein S6 Kinases, 90-kDa ; genetics ; Sequence Deletion

Objective To explore the relationship between the serum neuropeptide Y (NPY) levels and the pathogenesis,therapeutic intervention of schizophrenia. Methods One hundard twenty-five patients with schizophrenia (case group) with no medication for at least 4-week and 136 healthy controls (control group) were evaluated by Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) and Positive and Negative Syndrome Scala (PANSS). Simultaneously blood tests were performed to detect serum NPY levels. In the case group, PANSS was evaluated and blood collected again after 4 weeks of treatment with olanzapine. Result At the baseline,the serum NPY concentration was significantly lower in the case group than in control group (t=-5.79, P<0.01). The scores of RBANS and its factors were significantly lower in the case group than in control group (all P<0.01). The concentration was positively correlated with the score of the attention factor for RBANS scale (r=0.20, P=0.04). After treatment with olanzapine for 4 weeks,the serum NPY level in the case group was significantly increased (t=-2.23,P=0.03).The scores of PANSS total scale and subscale were significantly decreased(all P<0.01).There was no significant correlation between alterations of the serum level of NPY and PANSS total or subscale scores from baseline to 4-week (all P>0.05). Conclusion The present study has revealed a significant decrease in serum NPY levels in patients with schizophrenia which can be attenuated by treatment of Olanzapine.The action of Olanzapine may be related to the mechanism of action of Olanzapine.However,there is no correlation between alterations of the serum level of NPY and the improvement in the patientˊs clinical symptoms.

OBJECTIVETo compare clinical results of Sanders II-IV fractures of calcaneus treated by self-setting calcium phosphate cement and allograft with locking reconstruction bone plate internal fixation.

METHODSFrom March 2012 to December 2015, 48 patients with Sanders II-IV fractures of calcaneus were treated by open reduction and internal fixation through L-shape incision, bone grafting were performed on reserved bone defect of calcaneal fracture. The patients were divided into self-setting calcium phosphate cement and allograft group according to different materials. Twenty-eight patients in self-setting calcium phosphate cement group, including 23 males and 5 females aged from 22 to 52 years old with an average of (34.46±7.33) years old; 8 cases were type II, 11 cases were type III and 7 cases were type IV according to Sanders classification. Twenty patients in allograft group, including 17 males and 3 females aged from 24 to 55 years old with an average of(36.40±7.93) years old; 6 cases were type II, 7 cases were type III and 9 cases were type IV according to Sanders classification. Postoperative wound complications, Böhler angle before and after operation and 12 months, Maryland functional score were evaluated.

RESULTSAll patients obtained bone union, and were followed up from 12 to 42 months with an average of 25 months. There were no statistical significance in Böhler angle and Manyland score before and after operation and 12 months between two groups. Five patients occurred wound complications in allograft group and 2 cases occurred wound complications in self-setting calcium phosphate cement and allograft group.

CONCLUSIONSBoth of open reduction bone grafting and reconstructive plate internal fixation have good effective results for calcaneal fracture. Compared with allograft, self-setting calcium phosphate cement, which has no rejection response and less complications, has equal effects for calcaneal fracture and deserves to be popularized.

OBJECTIVE To identify potential mutations in five infants with neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD). METHODS The SLC25A13 gene was analyzed by next-generation sequencing. Suspected mutations were confirmed by PCR and Sanger sequencing in the probands and their parents. Impact of novel mutations was predicted with PolyPhen-2 software. RESULTS All neonates have harbored mutations of the SLC25A13 gene. Eight mutations were discovered, which included two novel mutations (c.1357A>G and c.1663dup23). All parents were found to be carriers of the mutations. CONCLUSION Mutations of the SLC25A13 gene probably underlie the NICCD among the five patients, among which 851del4 and 1638-1660dup were the most common ones. This has enriched the spectrum of SLC25A13 mutation in association with NICCD.

OBJECTIVEShellfish are recognized as important vehicles of norovirus-associated gastroenteritis. The present study aimed to monitor norovirus contamination in oysters along the farm-to-fork continuum in Guangxi, a major oyster production area in Southwestern China.

METHODSOyster samples were collected monthly from farms, markets, and restaurants, from January to December 2016. Norovirus was detected and quantified by one-step reverse transcription-droplet digital polymerase chain reaction (RT-ddPCR).

RESULTSA total of 480 oyster samples were collected and tested for norovirus genogroups I and II. Norovirus was detected in 20.7% of samples, with genogroup II predominating. No significant difference was observed in norovirus prevalence among different sampling sites. The norovirus levels varied widely, with a geometric mean of 19,300 copies/g in digestive glands. Both norovirus prevalence and viral loads showed obvious seasonality, with a strong winter bias.

CONCLUSIONThis study provides a systematic analysis of norovirus contamination 'from the farm to the fork' in Guangxi. RT-ddPCR can be a useful tool for detection and quantification of low amounts of norovirus in the presence of inhibitors found particularly in foodstuffs. This approach will contribute to the development of strategies for controlling and reducing the risk of human illness resulting from shellfish consumption.

Critical ultrasonography(CUS) is different from the traditional diagnostic ultrasound,the examiner and interpreter of the image are critical care medicine physicians.The core content of CUS is to evaluate the pathophysiological changes of organs and systems and etiology changes.With the idea of critical care medicine as the soul,it can integrate the above information and clinical information,bedside real-time diagnosis and titration treatment,and evaluate the therapeutic effect so as to improve the outcome.CUS is a traditional technique which is applied as a new application method.The consensus of experts on critical ultrasonography in China released in 2016 put forward consensus suggestions on the concept,implementation and application of CUS.It should be further emphasized that the accurate and objective assessment and implementation of CUS requires the standardization of ultrasound image acquisition and the need to establish a CUS procedure.At the same time,the standardized training for CUS accepted by critical care medicine physicians requires the application of technical specifications,and the establishment of technical specifications is the basis for the quality control and continuous improvement of CUS.Chinese Critical Ultrasound Study Group and Critical Hemodynamic Therapy Collabration Group,based on the rich experience of clinical practice in critical care and research,combined with the essence of CUS,to learn the traditional ultrasonic essence,established the clinical application technical specifications of CUS,including in five parts:basic view and relevant indicators to obtain in CUS;basic norms for viscera organ assessment and special assessment;standardized processes and systematic inspection programs;examples of CUS applications;CUS training and the application of qualification certification.The establishment of applied technology standard is helpful for standardized training and clinical correct implementation.It is helpful for clinical evaluation and correct guidance treatment,and is also helpful for quality control and continuous improvement of CUS application.

OBJECTIVE: To carry out variant analysis for a Chinese boy featuring dyshormonogenesis due to congenital hypothyroidism. METHODS: DNA of the patient and his parents was extracted and sequenced by high-throughput sequencing. The results were validated with Sanger sequencing and analyzed with Bioinformatics software. RESULTS: Sequencing result showed that the patient has carried compound variants of c.2654G>T(p.Arg885Leu) and c.943G>T(p.Gly315X) of the DUOX2 gene, which were inherited respectively from his mother and father. CONCLUSION The missense mutation c.2654G>T and nonsense mutation c.943G>T probably underlie the disease in this child.
Child ; Congenital Hypothyroidism ; diagnosis ; genetics ; Dual Oxidases ; genetics ; High-Throughput Nucleotide Sequencing ; Humans ; Male ; Mutation, Missense