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Objective:To establish the clinical laboratory genetic diagnosis procedures for Marfan syndrome (MFS) and carry out clinical laboratory genetic diagnosis for MFS families.Methods:The second generation high-throughput sequencing was used to sequence and analyze the FBN1 gene of two MFS families who visited to Fuwai Central China Cardiovascular Hospital (Heart Center of Henan People′s Hospital) from January to December 2020, and then Sanger sequencing was used to verify the second generation high-throughput sequencing results. At the same time, the sanger sequencing of mutation sites was performed on normal family members and 100 healthy people to identify the pathogenic mutations of FBN1 gene in the MFS families. The pregnant women of two families were guided for prenatal diagnosis in the second trimester of pregnancy.Results:The clinical laboratory diagnosis of MFS showed that two MFS patients had the pathogenic mutation of c.2560T>C heterozygous mutation and c.6772T>C heterozygous mutation in FBN1 gene, respectively. The mutation was not observed in 100 healthy people and normal members in two families. The prenatal diagnosis showed that there was a heterozygous mutation of FBN1 gene c.2560T>C in the first fetus of the MFS family, which was MFS. There was no mutation in the FBN1 gene in the second fetus of the MFS family, so it was recommended to continue the pregnancy. The results of postpartum follow-up were consistent with the results of clinical laboratory diagnosis.Conclusion:The clinical laboratory genetic diagnosis procedures for MFS have been established successfully, which provides an important reference for clarifying the clinical diagnosis of MFS.
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{L-End}Objective To explore the impact of workplace violence (WPV) on occupational burnout among healthcare workers. {L-End}Methods A total of 675 healthcare workers from an infectious disease hospital were selected as the study subjects using typical sampling method. The Workplace Violence in the Healthsector Country Case Studies Research Instruments: Survey Questionnaire and the Maslach Burnout Inventory 2-item were used to investigate the incidence of WPV and occupational burnout. {L-End}Results The incidence of WPV among the study subjects was 35.1%, with incidences of physical and psychological violence at 2.2% and 34.1%, respectively. The detection rates of emotional exhaustion, depersonalization, and occupational burnout were 25.9%, 12.6%, and 52.4%, respectively. The result of multifactorial logistic regression analysis showed that experiencing psychological violence, having a bachelor or master degree or higher, and having more concerns about WPV were influencing factors for emotional exhaustion (all P<0.05). Knowing the reporting process for violent incidents and having more concerns about WPV were influencing factors for depersonalization (all P<0.05). Being in a minority ethnic group, having a bachelor, a master degree or higher, experiencing psychological violence, and having more concerns about WPV were influencing factors for occupational burnout (all P<0.05). {L-End}Conclusion WPV increases the risk of occupational burnout among healthcare workers. Effective measures should be implemented to reduce the incidence of WPV, decrease the level of occupational burnout, and promote the overall well-being of healthcare workers.
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Background At present, the evaluation of water quality in public swimming places mostly adopts the single index evaluation method, ignoring the possible correlation between the indicators, the problem of information overlap between the indicators, and the differences between the swimming places with single or multiple unqualified water quality indicators. Objective To evaluate water quality in public swimming places in Chongqing objectively, intuitively, and comprehensively. Methods In 2020, a stratified random sampling method was used to investigate seven water quality indicators of 112 public swimming places in the central urban area, the new downtown urban area, the northeastern area, and the southeastern area of Chongqing. The selected indicators were free residual chlorine, turbidity, pH, free residual chlorine in disinfection pool of feet, urea, total plate count, and coliform bacteria. Principal component analysis was utilized to comprehensively evaluate water quality of swimming places by calculating principal component characteristic values and comprehensive evaluation values. Results The qualification rates of free residual chlorine, turbidity, pH, free residual chlorine in disinfection pool of feet, urea, total plate count, and coliform bacteria were 91.30%, 89.40%, 91.30%, 91.30%, 99.00%, 95.20%, and 86.50%, respectively, and the P50 values were 0.455 mg·L−1, 0.59 NTU, 7.352, 6.63 mg·L−1, 0.78 mg·L−1, 8 CFU·mL−1, and 0 CFU·100mL−1, respectively. The results of principal component analysis showed that KMO=0.573, P<0.001; four principal components were extracted, the eigenvalues of each principal component were 2.990, 1.624, 0.854, and 0.617, respectively, and the cumulative contribution rate was 86.928%. The comprehensive values of Banan District, Beibei District, Bishan District, Fengdu County, Fengjie County, Jiangbei District, Nan'an District, Nanchuan District, Pengshui County, Qianjiang District, Rongchang District, Shizhu County, Tongnan District, Wanzhou District, Yongchuan District, Yuzhong District, Changshou District, and Zhongxian County were −0.139, 0.228, 0.587, 0.042, −3.365, 0.587, 0.597, 0.587, 0.587, 0.189, −1.127, −0.201, −0.181, 0.587, 0.416, 0.587, 0.587, −0.098, and 0.043, respectively. The comprehensive evaluation values (P50) of the central urban area, the new downtown urban area, the southeastern area, and the northeastern area of Chongqing were 0.587, 0.587, −0.181, and 0.043, respectively. Conclusion The hygienic status of water in public swimming places in Chongqing is above average in China, but there are still potential health problems in turbidity and bacterial pollution in the southeastern area and Fengjie County of Chongqing.
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Objective This study aims to evaluate the changes of Cdk5 expression at the time of 3 hours to 10 days after moderate brain injury by blunt force impact in a rat model,and to demonstrate its forensic significance.Methods To establish a rat model of blunt focal brain contusion,and to observe the changes of Cdk5 expression in brain tissue at different timepoints after brain injury by immunohistochemistry and Western blot.Results A low expression level of Cdk5 was observed in the brain tissue of both normal and sham control groups.The expression of Cdk5 increased after 3 and 6 hours,remarkably increased at 12 hours,and reached the maximal level at 24 hours after focal brain injury.The Cdk5 level gradually decreased 3 days,5 days,7 days,and 10 days and reached the normal level 7 and 10 days after the injury,with no statistical difference (P＞0.05) compared with the normal and sham control groups.Conclusion The expression of Cdk5 increased in the peripheral area of contusion tissue after blunt brain injury in rats,showing single peak change,and dropped to normal level with the time extension.The change of Cdk5 expression may provide a new reference index for the prediction of early brain contusion.
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Objective To explore the anatomy of optic microvascular and the transcranial microsurgicaloperative strategies for protection of optic nerve function during the operation of the resection of giant invasivepituitary adenoma.Methods Thirty-five patients with giant pituitary adenoma were treated by different surgicalapproaches according to preoperative imaging data.The tumors were removed by employing microsurgicaltechnique via the parachiasmal opticocarotid and carotidotentorial spaces in sellar region and by opening thelamina terminals.Much attention was given to the preservation of perforating arteries from the interal carotidartery,anterior and posterior communicating arteries and arterior choroidal artery to optic nerve and chiasmResults Total removal of tumors Was conducted in 25 cases.Subtotal removal was performed in 10cases.Anatomical preservation of the optic nerve was achieved in all the cases during the operation,with opticnerve function getting better in 20 cases,remaining unchanged in 2 cases,no improvement in 7 cases and gettingworse in 6 cases.Conclusion A reasonable surgical approach is a prerequisite for the giant invasive pituita~adenoma surgery.Understanding the anatomical characteristics of microvascular in the sellar region,carefulprotection of the optic nerve,optic chiasm and microvascular,skilled microsurgical technique during the operationis key to prevent post-operative complications of optic nerve function.
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Objective To explore the microsurgical treatment of the fourth ventricular tumors. Methods A total of 29 cases of the fourth ventricular tumors were given microsurgical treatment from January 2000 to June 2003 in this hospital. In 5 cases the tumor was located close to the cortex with the superior vermis involvement and the microsurgical operation was performed through the cerebellar vermis. The remaining 24 cases underwent microsurgical resection of tumor through the cerebellomedullary fissure approach. Results A total resection was achieved in 23 cases, and a subtotal resection in 6 cases. Postoperative complications included 2 cases of hemorrhage of the upper digestive tract, 1 case of mutism, 1 case of hematoma of the fourth ventricular, 1 case of epidural hematoma remote from surgical site, and 1 case of irregular breath. Follow-up surveys in 19 cases for 3~12 months (mean, 5.5 months) revealed no tumor recurrence. Conclusions Preoperative proper differentiating characters of tumors, clarifying the position of tumors' basal part, selecting appropriate surgical approach, and understanding microanatomy of the fourth ventricular are the key to successfully complete the procedure.
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Objective Study the relationship between the component of medium and spore formation of Bacillus sp WTFY. Methods Alter the carbon source、nitrogen source、inorganic concentration and kinds in turns, observe the sporulation circumstances of Bacillus sp WTFY.Results When glucose concentration was higher over 0.1%, spore did not emerge;Nitrogen source、phosphorus、magnesiumions concentration and kinds have some degree influence,but not significantly.Conclusion Carbon source concentration is a key factor that influence spore formation.