To screen the pathogenic mutation location in a genetic family with the neurofibromatosis (NF1) by the next generation sequencing and analyze the clinical phenotype,Illumina Miseq sequencing was applied to capture and analyze the target regions of NF1 family's probands,and furtherly find out the suspicious mutations,as well as to verify the family members by Sanger sequencing.Two rare variants were identified in proband,including the heterozygous missense mutation c.C3649T (p.P1217S) in KIF1B gene and the missense mutation c.T6311C (p.L2104P) on exon 41 of NF1 gene (NM_000267.3).The amino acid at position 2104 was found to be changed from leucine to proline in NF1.The protein prediction SIFT and Polyphen-2 values were 0,0.997,which predicted a conformational change in the encoded protein and eventually affected its function.The mutation c.T6311C in NF1 gene was detected in all patients in this family,which showed genetic co-segregation.The clinical phenotype was neurofibroma in the spinal canal.There were no café au lait spots,iris Lisch nodules,scoliosis,tinnitus,heating loss,or elevated intracranial pressure.The missense mutation c.T6311C (p.L2104P) in NF1 gene might be the genetic cause of this hereditary disease of neurofibromatosis.

Objective To establish a trimethyltin chloride (TMT) -induced learning and memory impairment model in rats, and to investigate the protective effects and potential mechanisms of ferulic acid. Methods Specific pathogen-free male SD rats were randomly divided into control group, TMT intoxication group, fluoxetine group and 25, 50, 100 mg/kg ferulic acid group. The rats in the last five groups were injected with a dose of 8 mg/kg body weight TMT solution, and the rats in control group were injected with the same volume of 0.9% sodium chloride solution. After 24 hours of TMT injection, the rats in fluoxetine group were treated 10 mg/kg body weight of fluoxetine, the rats in the three ferulic acid groups were treated with ferulic acid at doses of 25, 50, and 100 mg/kg body weight, respectively. The rats in the control group and TMT intoxication group were treated with the same volume of 0.9% sodium chloride solution, once per day for continuous gavage for 28 days. Morris water maze experiment and light-dark box test were used to assess the learning and memory abilities of the rats. The mRNA and protein expressions of nuclear transcription factor-κB (NF-κB), tumor necrosis factor-α (TNF-α) and interleukin-1β (IL-1β) in the rat hippocampus were detected by real-time quantitative polymerase chain reaction and Western blot. The levels of reactive oxygen species (ROS) and malondialdehyde (MDA) and the activities of superoxide dismutase (SOD) and catalase (CAT) in the rat hippocampus were detected by enzyme-linked immunosorbent assay. Results Compared with the control group, rats of TMT intoxication group on day four had prolonged escape latency (P<0.05), fewer platform crossing (P<0.05), shorter time spent in the target quadrant and shorter latency to enter the dark compartment (all P<0.05). The mRNA and protein relative expression of NF-κB, TNF-α and IL-1β increased (all P<0.05), ROS and MDA levels increased (all P<0.05), SOD and CAT activities decreased (all P<0.05) in the rat hippocampus of TMT intoxication group on day four compared with that of the control group. Except for the terms of escape latency and target quadrant period of the rats in the 25 mg/kg ferulic acid group, rats in three ferulic acid groups on day four had lower escape latency (all P<0.05), more platform crossing (all P<0.05), longer period in the target quadrant and longer latency to enter the dark compartment (all P<0.05), compared with TMT intoxication group. Except for the relative protein expression of TNF-α in the rats of 50 mg/kg ferulic acid group, the mRNA and protein expression of NF-κB, TNF-α and IL-1β decreased (all P<0.05), ROS and MDA levels were reduced (all P<0.05), and the activities of SOD and CAT increased (all P<0.05) in the hippocampus of rats of 50 and 100 mg/kg ferulic acid groups compared with TMT intoxication group. Conclusion Ferulic acid can reverse TMT-induced learning and memory impairment in rats, and its mechanism of action may be related to alleviating oxidative stress damage and excessive inflammatory response in rat hippocampus.

{L-End}Objective To establish the norm of Core Occupational Stress Scale (COSS) for electronic manufacturing industry workers in China. {L-End}Methods A total of 3 049 workers from five electronic manufacturing enterprises in four prefecture-level cities concentrated distribution of the electronics manufacturing industry in China were selected as research subjects using a stratified sampling method. COSS was used to investigate occupational stress levels, and the mean norm, percentile norm and threshold norms were established. {L-End}Results The average score of COSS for the electronic manufacturing industry workers in China was (43.5±7.4) points, and the average scores of social support, organization and reward, demand and effort, and autonomy dimensions were (9.5±3.1), (15.1±3.9), (13.1±3.0), and (5.7±2.0) points, respectively. A total score of 0.0-<47.0 points was determined as no occupational stress, 47.0-<51.0 points as mild occupational stress, 51.0-≤54.0 points as moderate occupational stress, and >54.0 points as severe occupational stress. {L-End}Conclusion The norm of COSS for workers in China's electronics manufacturing industry has been established, which can provide a reference for the evaluation and intervention of their occupational stress levels.

Objective To investigate the effects of long-term exposure to three new types of light emitting diode (LED) sources on the behavior, learning, and memory of rats. Methods A total of 160 specific pathogen-free SD rats were divided into eight groups as followed, trichromatic fluorescent lamps color temperature control group, violet-chip full-spectrum white LED group, blue-chip white LED group, and blue-chip full-spectrum white LED group based on the light sources types, with color temperature of 4 000 K and 6 500 K groups in each group using the 4×2 factorial design. There were 20 rats in each group, with half of the rats were males and half females. Rats were exposed to artificial lighting, and the illumination was set at 750 lx. The rats in each group were exposed to different lighting environments for 12 hours per day for 24 weeks. The open-field and step-down tests were conducted in rats after 24 weeks exposure, followed by sacrifice of rats and measurement of organ coefficients. Differences in body weight, organ coefficients, and neurobehavioral indexes of rats in different groups were compared. Results The spleen coefficient of female rats decreased in blue-chip white LED of 6 500 K color temperature group, and the liver coefficient of male rats decreased in the violet-chip full-spectrum white LED of 4 000 K color temperature, blue-chip full-spectrum white LED of 4 000 K color temperature, and blue-chip full-spectrum white LED of 6 500 K color temperature groups, compared with the same-sex rats in trichromatic fluorescent lamps with same-color temperature control group (all P<0.05). The result of different types of light sources compared in the open-field test showed that the index of total distance and movement speed of female rats in the blue-chip full-spectrum white LED group were lower than those in the other three groups, and the time cost to the central area was longer than that in the blue-chip white LED group and the violet-chip full-spectrum white LED group (all P<0.05). The total distance and movement speed of male rats in the blue-chip full-spectrum white LED group were longer or higher than those in the violet-chip full-spectrum white LED group (all P<0.05). Based on the comparison of color temperature, the time and total distance of male rats in 6 500 K color temperature group were lower than that in the 4 000 K color temperature group (both P<0.05). In the step-down test, both male and female rats in the blue-chip full-spectrum white LED group made more errors compared with other three groups with the same gender (all P<0.05). Conclusion Based on the experimental conditions of this study, the blue-chip full-spectrum white light LED affects behavior, learning and memory of the rats, and trichromatic fluorescent lamp has the lowest effect on neurobehavior. The color temperature also affects behavior of the rats, and high color temperature has higher risk.

OBJECTIVE: To investigate the effects of subacute systemic inhalation exposure of 1,2-dichloroethane(1,2-DCE) on learning and memory in NIH mice. METHODS: Forty-five specific pathogen free healthy 7-week-old NIH mice were randomly divided into control,low-dose and high-dose groups with 5 female mice and 10 male mice in each group. The mice were exposed to 1,2-DCE at dosages of 0. 00,100. 00 and 350. 00 mg/m3 for 6 hours per day for consecutive 28 days by dynamic systemic inhalation. The neurobehavioral tests of mice were performed before and after the first to fourth weeks of exposure using the Morris water maze test. RESULTS: There was no significant difference in body weight and swimming speed among the three groups of mice( P > 0. 05). The navigation experiment results showed that the escape latency of mice in both low-and high-dose groups were longer than that of the control group at the same time point(P < 0. 05) during 1-4 weeks after exposure. In the control group,the escape latency was shorter than that of the same group before exposure( P < 0. 05). The escape latency of high-dose group prolonged with the increase of exposure time,and in the 4 th week the escape latency was significantly higher than that of the same group before exposure( P < 0. 05).The experiment results of space exploration indicated that the first time of crossing platform in low-and high-dose groups were longer than that of the control group at the second to the fourth week( P < 0. 05). The target quadrant retention time and the number of crossing the platform in the low-and high-dose groups were lower than those in the control group( P <0. 05). CONCLUSION: Subacute inhalation exposure of 1,2-DCE can impair the learning and memory ability of NIH mice.The high-dose exposure may reduce learning ability in mice in a time-effect manner.

【Objective】 To investigate and analyze the polymorphism of RHD gene in RhD-negative population in Jiayuguan using molecular biological technique, so as to accurately identify RhD-negative individuals, and formulate individualized transfusion strategies. 【Methods】 The RhD negative voluntary blood donors and patients (mainly pregnant women) were recruited. After informed consent, history of blood transfusion and pregnancy of them were investigated, and samples were collected for negative D confirmation, gene sequencing as well as antibody screening and identification. 【Results】 Among the 96 samples, 73 cases were RHD gene deletion, 18 RHD^*01EL.01(17 RHD1227A homozygous type and 1 RHD1227A heterozygous type), 2 weak RHD^*15 type (845G/A), 1 partial D type, i. e. RHD-CE(7) -D heterozygous allele, and 2 RHD^*01N.16 variant. Antibody was detected out in 4 cases, among which 2 were positive for anti-D, 1 anti-D plus anti-E, and 1 anti-Di^a. 【Conclusion】 The proportion of DEL gene in RhD negative Chinese Han population in Jiayuguan is slightly lower than that in general Chinese Han population. No anti-D or RHD-HDN was observed in DEL type women due to multiple pregnancy or delivery of D positive newborns.

Objective:To systematically describe the characteristics and trends of clinical studies on aesthetic and plastic devices from 2016 to 2020 in China.Methods:Clinical studies on aesthetic and plastic devices conducted in China from 2016 to 2020 were identified through ClinicalTrials.gov and the Chinese Clinical Trial Registry using predetermined search strings. Data on indications, medical device, sponsor type, and study design were collected and analyzed.Results:From 2016 to 2020, 118 registered clinical studies were identified and analyzed, among which 100 trials (84.7%) were initiated by medical institutions and the remaining were initiated by medical device enterprises. The number of studies increased from 12 to 42 from 2016 to 2020 with an average annual growth rate of 39.6%. For indication types, there are 90(76.3%) studies on skin defects, followed by 21(17.8%) on maxillofacial defects, 5(4.2%) on hair defects and 2(1.7%) on breast defects. The top four indications were scars, acne, nasolabial folds, and port-wine stains. For device types, photoelectric devices were involved in 73(61.9%) studies, followed by surgical devices [20(16.9%)] and injection devices [19(16.1%)]. Laser devices were the research focus among all photoelectric device categories. There were 11 clinical studies on scar treatment using laser treatment equipment, of which 6 trials applied parallel controlled study design, and the remaining trials applied self-controlled design. The sample size of these 11 trials ranged from 15 to 110.Conclusions:The number of registered clinical studies on aesthetic and plastic devices kept growing in the last few years. Skin related indications and photoelectric devices have become the hot spot in the field.

Objective:To systematically describe the characteristics and trends of clinical studies on aesthetic and plastic devices from 2016 to 2020 in China.Methods:Clinical studies on aesthetic and plastic devices conducted in China from 2016 to 2020 were identified through ClinicalTrials.gov and the Chinese Clinical Trial Registry using predetermined search strings. Data on indications, medical device, sponsor type, and study design were collected and analyzed.Results:From 2016 to 2020, 118 registered clinical studies were identified and analyzed, among which 100 trials (84.7%) were initiated by medical institutions and the remaining were initiated by medical device enterprises. The number of studies increased from 12 to 42 from 2016 to 2020 with an average annual growth rate of 39.6%. For indication types, there are 90(76.3%) studies on skin defects, followed by 21(17.8%) on maxillofacial defects, 5(4.2%) on hair defects and 2(1.7%) on breast defects. The top four indications were scars, acne, nasolabial folds, and port-wine stains. For device types, photoelectric devices were involved in 73(61.9%) studies, followed by surgical devices [20(16.9%)] and injection devices [19(16.1%)]. Laser devices were the research focus among all photoelectric device categories. There were 11 clinical studies on scar treatment using laser treatment equipment, of which 6 trials applied parallel controlled study design, and the remaining trials applied self-controlled design. The sample size of these 11 trials ranged from 15 to 110.Conclusions:The number of registered clinical studies on aesthetic and plastic devices kept growing in the last few years. Skin related indications and photoelectric devices have become the hot spot in the field.

【Objective】 To construct an in-vitro model of erythrocyte antibody-mediated complement activation, and establish quantitative detection methods based on flow cytometry and spectrophotometry, so as to explore the correlation of anti-body titers and complement activation speed, and provide a methodological basis for studying the adverse transfusion reactions of anti-body mediated complement hemolysis. 【Methods】 Mouse monoclonal antibody that recognized human C3b and fluorescent secondary antibody were used to label C3b fragments on erythrocytes, and the deposition of C3b fragments after complement activation was detected by flow cytometry. The absorbance at 540 nm of the supernatant in the complement activation reaction system was measured by spectrophotometry as the amount of hemoglobin released was related to the absorbance. 【Results】 The complement activation system was constructed according to the ratio of 3% red blood cell suspension (mixed for 6 people) 1∶anti-Tj^a 1∶complement 2. The repeatability was good (P value>0.05) as different red blood cell mixtures had been used to repeat the detection reaction system. When using 32×, 64× and 128× dilutions of anti-Tj^a mediated complement activation, the deposition of C3b fragments has been detected by flow cytometry at 30 s, 1 min and 2 min, respectively, and MFI peaked at 5 min, 10 min and 30 min, respectively. No obvious hemolysis has been observed within 1.5 h. 【Conclusion】 In vitro model of anti-Tj^a-mediated complement activation demonstrates the speed of complement activation is related to the concentration of antibody. At a certain antibody concentration, the speed of complement activation has been slowed down, and no obvious hemolysis observed.

【Objective】 To explore the application of matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS) in the genotyping of difficult blood typing samples, and to provide evidence for clinical blood transfusion. 【Methods】 Three ambiguous blood group samples, submitted to Shanghai Blood Center by Shanghai regional hospitals, were studied, of which Sample1 included the proband and his parents. Serological methods were used to perform blood group typing, direct antibody test, unexpected antibody screening and identification test. Blood group genotyping was performed by using the MALDI-TOF MS detection systeme stablished in our laboratory. Sanger sequencing was used to confirm gene mutation sites, and serological or flow methods were used to verify specific samples′ phenotype. 【Results】 Serological results indicated the existence of antibodies against high frequency antigens in sample 1 (including proband and her mother), 2 and 3. The genotyping results of MALDI-TOF MS showed that the proband of sample 1 was Di(a+ b+ ), her father was Di(a-b+ ), her mother was Di(a+ b-), sample 2 was p, and sample 3 was Jr(a-). Sequencing results of three samples were consistent with mass spectrometry typing results. Serological results showed that sample 2 had a p phenotype. The flow cytometry results suggested that sample 3 had a Jr(a-) phenotype. 【Conclusion】 For the first time, we applied MALDI-TOF MS technology to blood type genotyping of ambiguous clinical samples in China. Compared with other genotyping methods such as PCR-SSP, MALDI-TOF MS has the advantages of rapid detection, high throughput and high specificity, which would contribute to identification of difficult blood typing samples in the future, as well as rare blood group screening.