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Azathioprine (AZA) is commonly used for many autoimmune disorders; however, the limitation of its clinical use is due to potential toxicities, including severe leukopenia. Recent studies have identified genetic NUDT15 variants strongly associated with AZA‐induced leukopenia in Asian patients. This study aimed to investigate the strength of above genetic association and evaluate the usefulness of prospective screening of the NUDT15 variants to prevent AZA‐induced leukopenia in Chinese patients. AZA‐induced leukopenia in patients with autoimmune disorders were enrolled from multiple medical centers in Taiwan/China between 2012 and 2017 to determine the strength of genetic association of NUDT15 or TPMT variants by whole exome sequencing (WES). Furthermore, a prospective study was conducted between 2018 and 2021 to investigate the incidence of AZA‐induced leukopenia with and without genetic screening. The WES result showed the genetic variants of NUDT15 R139C (rs116855232) (P = 3.7 × 10−25, odds ratio (OR) = 21.7, 95% confidence interval (95% CI) = 12.1–38.8) and NUDT15 rs746071566 (P = 4.2 × 10−9, OR = 7.1, 95% CI = 3.7–13.7), but not TPMT, were associated with AZA‐induced leukopenia and NUDT15 R139C variant shows the highest sensitivity with 92.5%. Furthermore, the targeted screening of 1,013 participants for NUDT15 R139C enabled those identified as carriers to use alternative immunosuppressants. This strategy resulted in a significant decrease in the incidence of AZA‐induced leukopenia compared with historical incidence (incidence rate = from 7.6% decreased to 0.4%; P = 9.3 × 10−20). In conclusion, the NUDT15 R139C variant was strongly associated with AZA‐induced leukopenia in Chinese patients. The genetic screening of NUDT15 R139C followed by use of alternative immunosuppressants in identified carriers effectively decreased the incidence of AZA leukopenia for patients with autoimmune disorders. [ABSTRACT FROM AUTHOR]

Traditional norms of human societies in rural China may have changed owing to population expansion, rapid development of the tourism economy and globalization since the 1990s; people from different ethnic groups might adopt cultural traits from outside their group or lose their own culture at different rates. Human behavioural ecology can help to explain adoption of outgroup cultural values. We compared the adoption of four cultural values, specifically speaking outgroup languages/mother tongue and wearing jeans, in two co-residing ethnic groups, the Mosuo and Han. Both groups are learning outgroup traits, including each other's languages through contact in economic activities, education and kin networks, but only the Mosuo are starting to lose their own language. Males are more likely to adopt outgroup values than females in both groups. Females of the two groups are no different in speaking Mandarin and wearing jeans, whereas males do differ, with Mosuo males being keener to adopt them than Han males. The reason might be that Mosuo men experience more reproductive competition over mates, as Mosuo men have larger reproductive skew than others. Moreover, Mosuo men but not others gain fitness benefits from the adoption of Mandarin (they start reproducing earlier than non-speakers). This article is part of the theme issue 'Social norm change: drivers and consequences'.

Diabetes mellitus is a kind of metabolic disease characterized by hyperglycemia resulting from insulin insufficiency and insulin resistance. It has become one of the major diseases threatening human health. In this paper, we analyze the current R&D status of diabetes from the aspects of papers, patents, drugs and industrial development. The results show that scientific outcomes are increasing steadily and the hot topics are diabetic complications and epidemiological research. In terms of technology development, large pharmaceutical companies, such as Janssen Pharmaceutical, Lilly pharmaceutical, Boehringer Ingelheim, are actively engaged in diagnosis, treatment and management of diabetes. By March 23 2022, 207 drugs have been launched and a large number of candidate drugs are in the pre-clinical and clinical stage. In terms of industrial development, the potential diabetes market is huge and the digital management of diabetes is developing rapidly. China has certain strength in diabetes research and development. In the future, measures should be taken to strengthen the transformation of research outcomes, and promote product development to meet China's huge needs of diabetes cares.

Rare diseases refer to diseases with low incidence. Currently, there are over 8000 rare diseases in the world. Effective prevention and treatment of rare diseases is an important part of 'healthy China'. In this paper, status and drug development of rare diseases were reported. These results indicate that research on rare diseases is growing rapidly driven by technology and policy. The hotspots include the identification of gene mutations, the development of therapies, and the key points of technology include the development of drugs for rare diseases, the development of viral vectors for gene therapy, and the diagnosis and management system for rare diseases. In terms of drug development, 880 drugs have been launched by December 28, 2020, and a large number of drugs are in the pre-clinical stage. Generally, a new technology or drug is applicable to various diseases. In the future, with policy support and the development of emerging technologies such as gene editing, more and more rare diseases will be diagnosed and intervened early, even be cured, and the quality of life of patients is expected to be improved.

An acute gastroenteritis (AGE) outbreak caused by a norovirus occurred at a hospital in Shanghai, China, was studied for molecular epidemiology, host susceptibility and serological roles. Rectal and environmental swabs, paired serum samples and saliva specimens were collected. Pathogens were detected by real-time polymerase chain reaction and DNA sequencing. Histo-blood group antigens (HBGA) phenotypes of saliva samples and their binding to norovirus protruding proteins were determined by enzyme-linked immunosorbent assay. The HBGA-binding interfaces and the surrounding region were analysed by the MegAlign program of DNAstar 7.1. Twenty-seven individuals in two care units were attacked with AGE at attack rates of 9.02 and 11.68%. Eighteen (78.2%) symptomatic and five (38.4%) asymptomatic individuals were GII.6/b norovirus positive. Saliva-based HBGA phenotyping showed that all symptomatic and asymptomatic cases belonged to A, B, AB or O secretors. Only four (16.7%) out of the 24 tested serum samples showed low blockade activity against HBGA-norovirus binding at the acute phase, whereas 11 (45.8%) samples at the convalescence stage showed seroconversion of such blockade. Specific blockade antibody in the population played an essential role in this norovirus epidemic. A wide HBGA-binding spectrum of GII.6 supports a need for continuous health attention and surveillance in different settings.

Mercury (Hg), cadmium (Cd), and arsenic (As) concentrations in women were measured and compared to evaluate the effects of environmental heavy-metal pollution control on internal exposure levels. In 2005 and 2012, 200 and 182 women, respectively, were enrolled in the study. Demographic and diet information were collected using a questionnaire. Fasting venous blood samples were collected, and plasma concentrations of Hg, Cd, and As were measured using inductive coupled plasma mass spectrometry. The median concentrations (P 25 -P 75 ) of Hg, Cd, and As decreased from 0.56 (0.46-0.75) ng/mL, 0.14 (0.09-0.21) ng/mL, and 0.83 (0.66-1.09) ng/mL in 2005 to 0.39 (0.19-0.66) ng/mL, 0.09 (0.05-0.13) ng/mL, and 0.48 (0.29-0.72) ng/mL in 2012, respectively. The difference in plasma metal concentrations between measurements in 2005 and 2012 remained statistically significant after we adjusted for confounders. The adjusted ORs were 0.31 (0.16-0.60), 0.24 (0.12-0.48), and 0.25 (0.13-0.50) for Hg, Cd, and As concentrations, respectively, in 2012, relative to those in 2005. The levels of Hg, Cd, and As were 30% to 40% lower in 2012 than in 2005, indicative of lower human internal exposure to these contaminants due to the implementation of environmental pollution control. Engagement with agriculture and high-frequency water product consumption were associated with high Hg levels, and a high frequency of consumption of fresh fruit and eggs was negatively associated with lower levels of Cd in plasma.

Objective: To study the dynamic prevalence and epidemiological characteristics of birth defects distribution in the Tongzhou District of Beijing between 2006 and 2012., Methods: Data collected from the birth defects surveillance system in the Tongzhou District of Beijing between 2006 and 2012 were used. The prevalence and trends of birth defects were analyzed, also the proportion of birth defects in prenatal diagnosis was calculated., Results: Between 2006 and 2012, 1,165 cases of birth defects were identified among 92,340 births, with a prevalence of 12.62‰. The prevalence of birth defects showed an increased trend during the seven years (χ2=6.77, P<0.01). The prevalence in the flowing population (13.27‰) was higher than that in the permanent residents (11.55‰), and the former showed an upward trend during the seven years (χ2=25.02, P<0.01). The top five birth defects were congenital heart defects, polydactyly, cleft lip and/or palate, neural tube defects, and external ear malformation in turn. The prevalence of congenital heart defects and the unspecified congenital malformation increased while that of neural tube defects decreased. There was also an upward trend of the prenatal diagnosis for congenital heart defects (χ2=14.80, P<0.01)., Conclusions: The prevalence of birth defects increased in the Tongzhou District of Beijing from 2006 to 2012, and it was mainly caused by the increased prevalence of birth defects in the flowing population, the increased number of unspecified birth defects and the improvement of diagnosis technology for congenital heart defects.

Purpose: The aim of this retrospective study was to evaluate technical efficacy and the impact of CT-guided pulmonary radiofrequency ablation (RFA) on survival in patients with pulmonary metastases from nasopharyngeal carcinoma (NPC)., Materials and Methods: Between 2000 and 2009, 480 patients were pathologically or clinically confirmed pulmonary metastases from NPC. And ten included patients of them had a total of 23 pulmonary metastases treated with percutaneous RFA under the real-time CT fluoroscopy. Safety, local tumor progression, and survival were evaluated in our institutions. Matched-pair survival was compared using Kaplan-Meier analysis., Results: A total of 25 ablations were performed to 23 pulmonary metastases in 13 RFA sessions. Pneumothorax requiring chest tube placement developed in 3 of 13 (23.1%) RFA sessions. The median metastatic overall survival was 36.1 months for all the 480 NPC patients with pulmonary metastases. Furthermore, matched-pair analysis demonstrated patients with RFA treatment had a greater metastatic overall survival than patients without RFA treatment (77.1 months vs 32.4 months, log-rank test, p=0.009). There were no statistically significant differences in the survival probability of patients with RFA treatment (n=10) and surgical resection of pulmonary metastases (n=27) (log-rank test, p=0.75)., Conclusion: CT-guided pulmonary RFA is safe and offers a treatment alternative for local tumor control, providing promising survival in selected patients with pulmonary metastases from NPC., (Copyright © 2011 Elsevier Ireland Ltd. All rights reserved.)

Pneumocystis carinii is a major opportunistic pathogen which has been found in the lungs of a wide variety of mammalian host species, and the fact suggests the possibility of intraspecific variation. Until now, P. carinii from different mammalian species are differentiated as subspecies, and the rats are known to be infected by two subspecies. The present study investigated genetic heterogeneity of P. carinii isolates from two strains of rats in Korea and China by molecular karyotyping, RFLP and sequencing analysis. Karyotypes of P. carinii were grouped into three, two from two strains of rats in Korea and one from rats in China. However RFLP of PCR product of ribosomal and MSG gene of the P. carinii isolates showed same pattern. The sequence homology rates of alpha-tubulin DNA of the P. carinii isolates were 96% in Seoul Wistar rats, 93% in Seoul Sprague-Dawley rats, and 85% in Chinese Sprague-Dawley rats. The present finding confirmed that P. carinii from rats in Korea are grouped into two karyotype strains which are different from that of P. carinii from rats in China. The Chinese isolate shows a little different sequences of alpha-tubulin DNA.