[Research on the standard limits for vinyl chloride and trichloroethylene in the "Standards for Drinking Water Quality（GB5749-2022）" in China].

The usage of vinyl chloride and trichloroethylene in China has been increasing year by year, and they have been detected in both drinking water and environmental water, making them important environmental pollutants. Based on the latest research results on the health effects of vinyl chloride and trichloroethylene, the newly issued, "Standards for Drinking Water Quality (GB5749-2022)" in China has adjusted the standard limit of vinyl chloride from 0.005 mg/L to 0.001 mg/L and the standard limit of trichloroethylene from 0.07 mg/L to 0.02 mg/L. This article analyzed and discussed the relevant technical contents for determining the above standard limits, including the levels and exposure conditions of vinyl chloride and trichloroethylene in the water environment, health effects, derivation of safety reference values, and determination of hygiene standard limits. Suggestions were also made for the implementation of this standard.

[Clinical results after surgical treatment for non-selective case with postinfarction ventricular septal rupture].

OBJECTIVE: To observe the clinical prognosis and surgical treatment results in patients with postinfarction ventricular septal rupture, and to discuss the risk factors, methods & timing of treatment. METHODS: From January 2006 to February 2019, 23 patients with postinfarction ventricular septal rupture were admitted to the department of cardiac surgery, Peking University People's Hospital, including 12 males (52.2%) and 11 females (47.8%), aged (64.26 ±11.09) years. Among them, 18 cases underwent operation, and 5 cases did not receive surgical treatment. The clinical data and follow-up data were summarized retrospectively. RESULTS: Among the patients treated with operation, the average time from perforation to operation was (19.39 ±13.67) d, including 6 cases (33.3%) of perforation within 1 week, 6 cases (33.3%) within 2 to 4 weeks and 6 cases (33.3%) more than 4 weeks. Emergency surgery was performed in 11 cases (61.1%) because of hemodynamic instability, and selective operation in 7 cases (38.9%). Direct enlarged patch was used in 13 cases (72.2%), and some infarct exclusion techniques were used in 5 patients (27.8%). In 18 cases, coronary artery bypass grafting was performed in 12 cases (66.7%). Of all the surgical patients, 7 (38.9%) died during hospitalization. Compared with the survival patients, the perioperative death patients had earlier perforation [(1.83±0.75) d vs. (5.22 ±4.66) d, P=0.019] and higher emergency operation rate (100% vs. 36.4%, P=0.009) and lower simultaneous bypass grafting rate (28.6% vs. 90.1%, P=0.008). The median follow-up time was 2 years (3 months to 10 years). 2 patients died of heart failure in 2 months after operation, and 9 cases (50.0%) survived for a long time. Of the 5 patients who had not been treated, 2 died while waiting for operation, and 3 patients who refused surgery died within 1 week after discharge. CONCLUSION: Surgery is an effective treatment for patients with acute myocardial infarction complicated with ventricular septum perforation. The best time for operation should be determined by real-time evaluation and monitoring, combined with the situation of patients. Concomitant coronary artery bypass grafting may be beneficial to these patients.

[New mutation site of SEC23B gene in type â ¡ congenital erythrocythememia anemia: one case report and literatures review].

Objective: To enrich the gene mutation sites and accumulate treatment experience of congenital dyserythropoietic anemia (CDA) type Ⅱ by reporting one case of CDA patient with new mutation site of SEC23B and was successfully treated by homozygous allogeneic hematopoietic stem cell transplantation (allo-HSCT) . Methods: The mutation within SEC23B gene in a child case with the reduced hemoglobin for more than 3 months, and his family were analyzed in combination with literatures review. Results: A 3-day 5-month female child was admitted due to "decreasing hemoglobin for more than 3 months" , blood routine test showed HGB 44 g/L, positive for acid hemolysis test (Ham test) . Bone marrow showed that the proportion of erythroid line was 69%, mainly middle and late juvenile erythrocytes, binuclear and odd nucleated erythrocytes could be observed, and nuclear fragmentation and nuclear budding could be seen occasionally in nucleated erythrocytes, transmission electron microscopy disclosed that bone marrow harbored the typical double-layer membrane structure of nuclear erythrocytes. There were two unreported new mutation sites in the SEC23B gene, including 1504 G>C/wt and c. 2254-2255 insert A/wt. The two mutations were derived from the father and mother of the child respectively. At the late stage, the child was successfully treated with allo-HSCT, the original mutation turned negative. Conclusion: This study reported the mutation type of SEC23B gene insertion for the first time in China. Allo-HSCT could be utilized as a treatment for CDA.

IL-17 rs2275913 genetic variation contributes to the development of gastric cancer in a Chinese population.

The purpose of this hospital-based case-control study was to assess whether the interleukin (IL)-17 rs2275913 genetic variation can influence susceptibility to gastric cancer. Samples from a total of 202 gastric cancer patients and 237 controls were collected from the Linyi People's Hospital between March 2013 and March 2015. The IL-17 rs2275913 gene polymorphism was identified by polymerase chain reaction and restriction fragment length polymorphism. When compared with control subjects, gastric cancer patients were older in age (OR = 3.89, 95%CI = 2.55-5.95), male (OR = 2.08, 95%CI = 1.39-3.10), had a habit of alcohol consumption (OR = 1.71, 95%CI = 1.15-2.55), and were more likely to be infected with Helicobacter pylori (OR = 2.76, 95%CI = 1.83-4.16). We observed that the AA genotype of the IL-17 rs2275913 polymorphism resulted in a 2.32-fold risk of gastric cancer compared to the GG genotype (OR = 2.32, 95%CI = 1.20-4.54; P = 0.01). The AG combined with AA genotype of the IL-17 rs2275913 polymorphism had more risk of developing gastric cancer than the GG genotype (OR = 1.50, 95%CI = 1.01-2.23; P = 0.04). Moreover, the AA genotype of the IL-17 rs2275913 polymorphism was correlated with a higher risk of developing gastric cancer than the GG and AG genotypes combined (OR = 2.01, 95%CI = 1.08-3.79; P = 0.02). In conclusion, the results of our study suggest that the IL-17 rs2275913 polymorphism could contribute to the risk of gastric cancer.

HLA-DQ association and allele competition in Chinese narcolepsy.

In Japanese, Koreans and Caucasians, narcolepsy/hypocretin deficiency is tightly associated with the DRB1*15:01-DQA1*01:02-DQB1*06:02 haplotype. Studies in African-Americans suggest a primary effect of DQB1*06:02, but this observation has been difficult to confirm in other populations because of high linkage disequilibrium between DRB1*15:01/3 and DQB1*06:02 in most populations. In this study, we studied human leucocyte antigen (HLA) class II in 202 Chinese narcolepsy patients (11% from South China) and found all patients to be DQB1*06:02 positive. Comparing cases with 103 unselected controls, and 110 and 79 controls selected for the presence of DQB1*06:02 and DRB1*15:01, we found that the presence of DQB1*06:02 and not DRB1*15:01 was associated with narcolepsy. In particular, Southern Chinese haplotypes such as the DRB1*15:01-DQA1*01:02-DQB1*06:01 and DRB1*15:01-DQA1*01:02-DQB1*05 were not associated with narcolepsy. As reported in Japanese, Koreans, African-Americans and Caucasians, additional protective effects of DQA1*01 (non-DQA1*01:02) and susceptibility effects of DQB1*03:01 were observed. These results illustrate the extraordinary conservation of HLA class II effects in narcolepsy across populations and show that DRB1*15:01 has no effect on narcolepsy susceptibility in the absence of DQB1*06:02. The results are also in line with a previously proposed 'HLA-DQ allelic competition model' that involves competition between non-DQA1*01:02, non-DQB1*06:02 'competent' (able to dimerize together) DQ1 alleles and the major DQα*01:02/ DQß*06:02 narcolepsy heterodimer to reduce susceptibility.

Ventilatory chemoresponsiveness, narcolepsy-cataplexy and human leukocyte antigen DQB1*0602 status.

We hypothesised that hypocretin (orexin) plays a role in the determination of ventilatory chemosensitivity. 130 patients with narcolepsy-cataplexy (mean ± SD age 20 ± 10 yrs, 69% male) and 117 controls (22 ± 6.9 yrs, 62% male) were recruited and tested for human leukocyte antigen (HLA)-DQB1*0602 status, hyperoxia hypercapnic (change in minute ventilation (δV'(E))/carbon dioxide tension (δP(CO(2))) L·min(-1)·mmHg(-1)) and hypoxic (δV'(E) /change in arterial oxygen saturation measured by probe oximetry (δS(p,O(2))) L·min(-1) per %S(p,O(2))) responsiveness, and by spirometry. Hypocretin deficiency was determined either by measures of cerebrospinal fluid hypocretin-1 (37 patients) or by positive HLA-DQB1*0602 status. All patients and 49% of controls underwent polysomnography and multiple sleep latency testing. Despite similar spirometric values, patients had a higher apnoea/hypopnoea index (AHI) (2.8 ± 5.4 versus 0.8 ± 1.6 h(-1); p = 0.03) and lower minimal oxygen saturation during sleep (87% ± 7 versus 91 ± 4%; p = 0.0002), independent of age, sex and body mass index. Patients had depressed hypoxic responsiveness (0.13 ± 0.09 versus 0.19 ± 0.13 L·min(-1) per %S(p,O(2)); p<0.0001), independent of AHI, but hypercapnic responsiveness did not differ. Examined by HLA status, positive (26 out of 117) controls had lower hypoxic but similar hypercapnic responsiveness than those marker-negative (0.13 ± 0.08 versus 0.20 ± 0.14 L·min(-1) per %S(p,O(2)); p<0.0001). Thus, a lower hypoxic responsiveness in the narcolepsy-cataplexy group is a result of DQB1*0602 status rather than the clinical features of disease.

Effect of active and passive cigarette smoking on CYP1A2-mediated phenacetin disposition in Chinese subjects.

The effect of active and passive cigarette smoking on CYP1A2-mediated phenacetin disposition was evaluated in a controlled study of 36 healthy Chinese subjects. Each subject was administered a single oral dose of phenacetin (900 mg), and frequent blood samples were taken for up to 12 hours for simultaneous high-pressure liquid chromatography determinations of plasma concentrations of phenacetin and metabolically derived paracetamol. Compared with values observed in controls not exposed to cigarette smoking, subjects who smoked 7 to 40 (median, 20) cigarettes per day exhibited a 2.5-fold higher phenacetin apparent oral clearance (7.2, 4.3-12.0 L x h(-1) x kg(-1) vs 2.9, 1.8-4.6 L x h(-1) x kg(-1) [geometric means, 95% confidence intervals]; n = 12, p < 0.05). In subjects exposed to passive smoking, phenacetin's apparent oral clearance (3.6, 2.0-46.6 L x h(-1) x kg(-1), n = 12) was intermediate between the values observed in the two other groups. Plasma paracetamol levels were moderately lower in active smokers than in passive smokers and controls. These results demonstrated that, in contrast to results found in previous studies, Chinese subjects were fully susceptible to the inducing effect of cigarette smoke on CYP1A2 activity.