Objective:To investigate the clinical and genetic features of the patient with neurodevelopmental disorders characterized by thickened corpus callosum caused by MAST1 gene mutation. Methods:Clinical data and auxiliary examination of a child with neurodevelopmental disorders caused by MAST1 gene mutation who was admitted to Henan Children′s Hospital in September 2022 were collected, and whole exome sequencing technology was applied to analyze the genetics of the child. Results:The patient was a 2 years and 8 months old male, with a clinical phenotype including intellectual, motor, and speech development disorders. Brain magnetic resonance imaging (MRI) showed thickened corpus callosum, nodular heterotopia of the left ventricle body.Whole exome sequencing showed the MAST1 gene with c.578T>G(p.Met193Arg) heterozygous missense variant, which was a unreported de novo pathogenic variant and both of his parents were wild-type. Conclusions:Diseases caused by MAST1 gene mutations are relatively rare, the main clinical features are neurodevelopmental disorders and brain structural abnormalities, and MRI shows an enlarged corpus callosum.The heterozygous missense variant c.578T>G(p.Met193Arg) of the MAST1 gene is the genetic cause of this case.

Objective:To investigate the effect of the interaction between metabolic syndrome and smoking on the risk of subsequent cardiovascular events.Methods:Urban residents aged 40 and above in the Yunyan District of Guiyang City were selected from " Risk Evaluation of cAncers in Chinese diabeTic Individuals: A lONgitudinal(REACTION) Study". The baseline survey started in 2011 and general information including gender, age, medical history, lifestyle habits, and smoking status were collected. Additionally, biochemical indicators related to metabolic syndrome(MS) were measured. The study participants were then followed up, and the first cardiovascular events occurring after the initial survey were recorded. The average follow-up period was 10.07±1.49 years. The interaction between metabolic syndrome and smoking on subsequent cardiovascular events was analyzed using Cox proportional hazards models.Results:The study included a total of 7 275 individuals, among whom 639 experienced cardiovascular events. After adjusting for multiple variables, compared to non-smokers without metabolic syndrome(MS), smokers with MS showed a higher risk of cardiovascular events, with a hazard ratio( HR) of 6.54(95% CI 4.88, 8.78). This risk was higher than that of individuals with MS who never smoked [ HR 1.39(95% CI 1.11, 1.75)] and non-MS smokers [ HR 2.48(95% CI 1.77, 3.49)]. There was an additive interaction between MS and smoking on the occurrence of cardiovascular events, with a relative excess risk due to interaction(RERI) of 3.30(95% CI 1.89, 4.70), an attributable proportion(AP) of 0.55(95% CI 0.43, 0.59), and a synergy index(S) of 3.07(95% CI 1.94, 4.84). Furthermore, when stratifying the duration of smoking cessation, long-term quitters(≥8 years) showed a lower risk of cardiovascular events compared to current smokers, regardless of whether they had MS. The hazard ratios were 0.45(95% CI 0.26, 0.78) for individuals with MS and 0.42(95% CI 0.19, 0.95) for individuals without MS. Conclusions:There is an additive interaction between smoking and MS on the risk of cardiovascular events. The coexistence of both factors significantly increases the risk of cardiovascular events.

The global COVID-19 coronavirus pandemic has infected over 109 million people, leading to over 2 million deaths up to date and still lacking of effective drugs for patient treatment. Here, we screened about 1.8 million small molecules against the main protease (M^pro) and papain like protease (PL^pro), two major proteases in severe acute respiratory syndrome-coronavirus 2 genome, and identified 1851M^pro inhibitors and 205 PL^pro inhibitors with low nmol/l activity of the best hits. Among these inhibitors, eight small molecules showed dual inhibition effects on both M^pro and PL^pro, exhibiting potential as better candidates for COVID-19 treatment. The best inhibitors of each protease were tested in antiviral assay, with over 40% of M^pro inhibitors and over 20% of PL^pro inhibitors showing high potency in viral inhibition with low cytotoxicity. The X-ray crystal structure of SARS-CoV-2 M^pro in complex with its potent inhibitor 4a was determined at 1.8 Å resolution. Together with docking assays, our results provide a comprehensive resource for future research on anti-SARS-CoV-2 drug development.
Humans ; Antiviral Agents/chemistry* ; COVID-19 ; COVID-19 Drug Treatment ; High-Throughput Screening Assays ; Molecular Docking Simulation ; Protease Inhibitors/chemistry* ; SARS-CoV-2/enzymology* ; Viral Nonstructural Proteins

Background Excessive intake of sugar-sweetened beverages (SSBs) is harmful to health. In recent decades, the consumption of SSBs by Chinese residents has increased rapidly, increasing the risk of death and burden of disease. Objective To analyze the knowledge level and influencing factors of SSBs for Chinese residents aged 18-64 years in 2021. Methods A multi-stage cluster random sampling approach was used to conduct a questionnaire survey among residents aged 18-64 years in 302 survey sites across the country in 2021, and 98567 valid questionnaires were obtained. Four questions are about SSBs among the questionnaire's 5 dimensions. Respondents who answered 3 or more questions correctly were considered to have a basic understanding of SSBs. Frequency and weighted proportion were used for description. With individual as level 1 and resident council (village council) as level 2, a two-level logistic regression model was applied to examine the influencing factors. A null model was used to determine whether the two-level logistic regression model was appropriate. Results The knowledge awareness rate of SSBs was 57.0% among the Chinese residents aged 18-64 years in 2021. The knowledge point with the lowest correct rate was "It is best to consume no more than 25 grams of added sugar per day" (22.6%), while the one with the highest correct rate was "Excessive intake of SSBs can increase the risk of obesity and diabetes" (81.1%). The results of the null model showed that SSBs knowledge level had a clustering effect at resident council (village council) level (t=25.00, P<0.0001), so a two-level model fit better than a one-level model. The results of the two-level logistic model revealed that residents who were female (OR=1.14, 95%CI: 1.11, 1.18) or working in medical and health (OR=1.36, 95%CI: 1.27, 1.45) and education institutions (OR=1.16, 95%CI: 1.07, 1.24) had a higher knowledge level compared to males or residents of other occupations. The knowledge level was lower among residents in central (OR=0.87, 95%CI: 0.77, 0.97) and western (OR=0.85, 95%CI: 0.75, 0.94) areas than in eastern areas. Those with chronic diseases (OR=0.81, 95%CI: 0.78, 0.84) and who did not know if they had a chronic disease (OR=0.75, 95%CI: 0.72, 0.78) had a lower knowledge level than those without chronic diseases. Compared with 18-24 years, the knowledge level was higher in ages 35-44 years (OR=1.07, 95%CI: 1.02, 1.12) and lower in ages 55-64 years (OR=0.92, 95%CI: 0.86, 0.97), and not different from the ages 25-34 years and 45-54 years. The knowledge level increased with the level of education, the trend was statistically significant (P＜0.001). Conclusion Only about half of Chinese adults aged 18-64 years had a basic understanding of SSBs in 2021. The awareness rate of added sugar intake was low in particular. The knowledge levels of male, central and western, or less educated populations were even lower. Awareness of the negative health outcomes of SSBs was high among the population.

In acute lung injury, two subsets of lung macrophages exist in the alveoli: tissue-resident alveolar macrophages (AMs) and monocyte-derived alveolar macrophages (MDMs).However, it is unclear whether these 2 subsets of macrophages have different functions and characteristics during the recovery phase. RNA-sequencing of AMs and MDMs from the recovery period of LPS-induced lung injury mice revealed their differences in proliferation, cell death, phagocytosis, inflammation and tissue repair. Using flow cytometry, we found that AMs showed a higher ability to proliferate, whereas MDMs expressed a larger amount of cell death. We also compared the ability of phagocytosing apoptotic cells and activating adaptive immunity and found that AMs have a stronger ability to phagocytose, while MDMs are the cells that activate lymphocytes during the resolving phase. By testing surface markers, we found that MDMs were more prone to the M1 phenotype, but expressed a higher level of pro-repairing genes. Finally, analysis of a publicly available set of single-cell RNA-sequencing data on bronchoalveolar lavage cells from patients with SARS-CoV-2 infection validated the double-sided role of MDMs. Blockade of inflammatory MDM recruitment using CCR2 −/− mice effectively attenuates lung injury. Therefore, AMs and MDMs exhibited large differences during recovery. AMs are long-lived M2-like tissue-resident macrophages that have a strong ability to proliferate and phagocytose. MDMs are a paradoxical group of macrophages that promote the repair of tissue damage despite being strongly pro-inflammatory early in infection, and they may undergo cell death as inflammation fades. Preventing the massive recruitment of inflammatory MDMs or promoting their transition to pro-repairing phenotype may be a new direction for the treatment of acute lung injury.

OBJECTIVE: To explore the molecular reasons of weak expression of B antigen on the red cell. METHODS: Serological test for blood group was carried out, including red cell and plasma grouping, and anti-A1 and anti-H testing, and confirming weak A or B antigens by adsorption and elution. Exons 1-7 were sequenced directly, and one of them was cloned and sequenced. RESULTS: All of the 23 samples showed the weak B antigen by serological method. The alleles of the subgroups were identified by DNA sequencing, including 2 Bel subgroup, 4 B3 subgroup, 14 Bw subgroup, 2 CisAB subgroup and a novel allele. The novel allele showed a nucleotide substitution 662G>A in the exon 7, and the sequence was submitted to Blood Group Antigen Gene Mutation Database, and the novel allele was named Bel10. CONCLUSION Nucleotide substitution in exon results in blood subgroup, which showed that the antigens were weakened, and Bw phenotype was the most frequently subgroup.
ABO Blood-Group System/genetics* ; Alleles ; Exons ; Genotype ; Humans ; Nucleotides ; Phenotype

Secondary traumatic stress refers to the natural, consequent emotions and behaviors that arise from knowledge of traumatic events experienced by others. It is the stress of helping or wanting to help a traumatized person and is considered one of the occupational injuries for nurses. Because of the unpredictable working environment, nurses in Emergency Department often experience patient death, suicide, traumatic events, and participate in emergency first aid and nursing of a large number of trauma patients, and they are at increased risk of secondary traumatic stress. This article mainly reviews the concept, symptoms, current situation, measurement tools and influencing factors of secondary traumatic stress of nurses in Emergency Department, so as to provide a basis for further identification and intervention in clinical practice.

With improvements in information technology and expansion in education reforms, more innovative teaching reform programs have also been launched. Information technology has increased interest in the use of the flipped classroom innovative teaching model. In order to explore new ideas for the improvement of teaching, this paper focuses on the flipped classroom teaching approach with the integration of information technology. Micro-teaching is an important innovative flipped classroom teaching approach with a number of advantages as it is short, concise, and interesting, which therefore helps improve students' self-learning ability. Designing and preparing micro-teaching would become a prerequisite skill for college teachers. Based on the analysis of the entries in the "National Universities Micro-teaching Competition of Life Science", this paper explores the application of micro-teaching in life sciences teaching from the perspective of curriculum introduction, mode of presentation, teaching design, and other aspects of teaching. This information could serve as a guide to frontline college teachers to help them understand and master the skills of designing micro-teaching, so as to generate interest and improve learning efficiency among college students.
Biological Science Disciplines ; Curriculum ; Humans ; Learning ; Students ; Universities

This study aims to provide a brief overview of the history and development of global health education (GHE) as academic degree programs worldwide,and to identify GHE's development opportunities and obstacles in China.This is a state-of-the-art review of published and unpublished information that described and evaluated disci-plinary development of global health degree programs worldwide,written in English,and published or shared be-tween 1990 and 2020.Data were derived from official websites of leading global health institutions,like "Google Scholar","PubMed",and unpublished information such as presentation files and unpublished manuscripts col-lected from knowledgeable leaders in the field.We retrieved and reviewed a total of 35 articles and a large amount of unpublished information or sources on the internet.Global Health emerged as a new discipline around the end of the last millennium and proliferated in the last two decades in developed nations,especially the United States and the United Kingdom.The development of China's GHE programs was built on China's increasing engagement in global health affairs and research.In 2012,Wuhan University established the first official global health de-partment in China.Several universities such as Peking University and Duke Kunshan University subsequently set up departments or programs to offer undergraduate and postgraduate majors and degrees.The first school-level global health unit was established in Shanghai in 2019.The Consortium of Chinese Universities for Global Health(CCUGH) grew from 10 founding members in 2013 to 25 in 2020.Major desirable attributes "unique" to stu-dents majoring in global health include global-mindedness,health interests,compassion,intercultural sensitivity,and adventurous spirit.Graduates from GHE programs have a diverse set of career choices spanning research,government,not-for-profit,and private sector occupations.We identified a number of strengths,weaknesses,opportunities,and threats to the future development of GHE in China.To ensure sustainable future growth,we advocate addressing the following key aspects:(1) clearer disciplinary distinctions;(2) multidisciplinary col-laborations;(3) public-sector investments;and (4) non-public sectors participation.Amidst China's increasing engagement in health affairs globally and the proliferation of GHE programs in developed nations,China has experienced fast growth in GHE degree programs since 2012 while a number of challenges remain for its future development.

Objective:To evaluate the clinical effect of embolization of congenital parotid arteriovenous fistula(AVF) using coils and absolute ethanol.Methods:From January 2015 to December 2019, 8 patients with congenital AVF in parotid region were admitted to the Department of Interventional Radiology Shanghai Ninth People’s Hospital. AVF was confirmed by angiography of common carotid artery and vertebral artery through femoral artery puncture with Seldinger technique. Using coaxial microcatheter to reach the fistula via artery or using direct percutaneous puncture to reach the dilated vein and introduced microcatheter to the fistula via puncture needle. Combined detachable coils with fiber coils, and used absolute ethanol to occlude the fistula. Then the outcome was evaluated.Results:There were 7 males and 1 female involved in this study. The average age was 28.5 years (3-58 years). All of the 8 patients were confirmed AVF in parotid region by angiography, five on the right and three on the left. The feeder artery was external carotid artery, and the outflow vein was external jugular vein. Among them, 6 patients used coaxial microcatheter to reach the fistula via artery, 2 patients used direct percutaneous puncture after failure via transarteral approach. All the 8 patients were treated with absolute ethanol, the total amount of which was 17.4 ml on average. After embolization, the external carotid angiography demonstrated that the fistula was completely occluded, the branches of the external carotid artery at the distal end of the fistula were normal, and there was no obvious reflux vein. After the operation, all the patients had no pulsation and tremor. The external jugular vein dilation disappeared in 4 patients. One patient had temporary facial paralysis on the same side of the operation area. The symptoms disappeared three days after treatment. This patient had undergone coils exposed three months after operation. After local debridement, the exposed coils were removed and the wound healed. The 8 patients were followed up for 6-12 months without recurrence.Conclusions:Embolization with coils combined with absolute ethanol is safe and affective treatment for congenital parotid AVF.