Research progress of biological agents in thyroid-associated ophthalmopathy / 国际眼科杂志(Guoji Yanke Zazhi)

Thyroid-associated ophthalmopathy(TAO)is a rare organ-specific autoimmune disease with an unclear pathogenesis. At present, the treatment still relies mainly on glucocorticoids and traditional immunosuppressants. However, some patients respond poorly to these drugs and experience treatment-related adverse reactions, highlighting the urgent need for novel drugs for TAO treatment. In recent years, with the deepening of research on the pathogenesis of TAO, a multitude of biologics targeting specific targets have emerged. Among them, teprotumumab, which targets the insulin-like growth factor-I receptor(IGF-IR), has been approved by the Food and Drug Administration for the treatment of TAO, and several other biologics are currently in clinical trials. This review provides the latest reference for the clinical prevention, treatment, and research of TAO by summarizing the current clinical research status of biologics targeting IGF-IR, neonatal Fc receptor(FcRn), thyroid-stimulating hormone receptor(TSHR), B cells, cytokines, and other biological agents in TAO and analyzing their impact on clinical treatment and future research trends.

Transcriptomic analysis of the molecular mechanism of Tiaopi Chengqi decoction improving gastric digestive function in mice with food accumulation / 中国临床药理学与治疗学

AIM:To explore the molecular mechanism of Tiaopi Chengqi decoction (TpCqD) improving hyperthermia and high-protein food-induced hyperphagia mice based on transcriptomics. METHODS:C57 mice were randomly divided into a control group, model group, low-dose TpCqD group, high-dose TpCqD group, and domperidone group. The general condition of the experimental mice was observed and the average food intake was counted, and the rate of gastric emptying and intestinal propulsion was determined for each group of mice. H&E staining was used to observe pathological changes in gastric tissue. PAS staining was used to observe glycogen changes in gastric tissue. Pepsin activity was determined by colorimetry. pH value of gastric contents was measured by acid-base titration. Transcriptome sequencing was used to analyze the differential genes in gastric tissue, a volcano map and a cluster heat map were made for the differential genes, and KEGG was used to analyze the signal pathway enrichment of the differential genes. RT-qPCR verified the differential genes obtained by screening. RESULTS:After treatment with TpCqD, the body weight and average food intake of mice with food accumulation increased (P<0.05), and the intestinal propulsion rate and gastric emptying speed of mice with food accumulation accelerated (P<0.05). TpCqD could protect gastric tissue structure and glycogen degradation, increase pepsin activity (P<0.05), and reduce gastric content pH (P<0.05). Transcriptome results showed that TpCqD could regulate the expression of Acox2 and cilp2, regulate fat digestion and absorption, protein digestion and absorption, and pancreatic secretion signals. RT-qPCR showed that compare with model group, TpCqD up-regulated Acox2 (P<0.05) and down-regulated the mRNA level of cilp2 (P<0.05). CONCLUSION:TpCqD ameliorated digestive dysfunction in mice with high-calorie and high-protein diets leading to food accumulation involving the regulation of the fat and sugar metabolism genes Acox2 and cilp2, and pancreatic secretory signaling.

Effect of Qingshen granules on miR-23b and PINKl/Parkin pathway in rat NRK-52E cell transdifferentiation model / 中国药理学通报

Aim To investigate the targeting mechanism of miR-23b on PINKl/Parkin pathway in transdifferentiation of NRK-52E cellsinduced by TGF-β1, and to elucidate the intervention mechanism of Qingshen granules drug-containing serum on NRK-52E cell transdifferentiation. Methods Ultra-high performance liquid chromatography ( UPLC ) fingerprinting method was used to analyze Qingshen granules. The NRK-52E transdifferentiation model induced by TGF-β1 was constructed. The NRK-52E cells were divided into simulated no-load control group, miR-23b-5p simulated group, inhibitor no-load control group, and miR-23b-5p inhibitor group, after transfection with siRNA, and the effect of miR-23b-5p on PINK1 expression was ob-served. The NRK-52E cells were then divided into normal group, TGF-(31 group, Qingshen granule group, miR-23 b-mimic group, miR-23 b-mimic group, and miR-23b-mimic + Qingshen granule group. Western blot was used to detect the expression of Pinkl, Parkin, LC3 n, Beclin-1, P62 and a-SMA proteins, and RT- PCR was used to detect the expression of miR-23 b-5p, Pinkl, Parkin, Beclin-1 and a-SMA mRNA in NRK- 52E cells. Dual-Luciferase Reporter gene experiment was used to detect the targeting relationship between miR-23b-5p and PINKL Results UPLC fingerprinting method found 11 active components in Qingshen granules. After overexpression of miR-23b-5p, the expression of PINkl mRNA significantly increased (P 0. 05 ). The experimental results showed that the expressions of miR- 23b-5p, Pinkl, Parkin, Beclin-1, LC3 II and LC3 II/ I ratio in TGF-β1 group were significantly lower than those in normal group, but the expressions of P62 and a-SMA were significantly higher than those in normal group ( P <0.05). The expressions of miR-23 b-5 p, Pinkl, Parkin, Beclin-1, LC3 II and LC3 11/ I ratio in Qingshen granule group and miR-23 b-mimic group were significantly higher than those in TGF-β1 group, and the expressions of P62 and a-SMA were significantly lower than those in TGF-β1 group (P < 0. 05 ). The performance of miR-23 b-mimic + Qingshen granule group was better than that of miR-23 b-mimic group (P < 0. 05 ). Conclusions Qingshen granules can up- regulate the expression of miR-23b-5p in NRK-52E cellsand inhibit the transdifferentiation process of NRK- 52E cells by enhancing the mitochondrial autophagy activity mediated by PINKl/Parkin pathway.

Analysis of effective components of Agaricus blazei Murill extract by LC-MS and network pharmacology analysis in treatment of chronic myeloid leukemia / 中国药理学通报

Aim To explore the potential targets and related signaling pathways of Agaricus blazei Murill (AbM ) extract in the treatment of chronic myeloid leukemia (CML) based on liquid chromatography mass spectrometry ( LC-MS ), network pharmacology, molecular docking, and were further verified by experiments in vitro. Methods The active components of AbM extract were retrieved from LC-MS, Swiss Target Prediction database was used to predict related targets, and CML disease target genes were obtained from Gen- eCards and DisGeNET databases. After screening the common targets of drug and CML, the protein-protein interaction network of the common targets was performed by STRING, and GO and KEGG enrichment a- nalysis were done by DAVID database. Cytoscape software was used to construct the network of target protein. Molecular docking was carried out by DockThor, and the Pymol software was used to make a visual picture. The inhibitory effect of AbM extract on leukemia cells K562 was determined by CCK-8 experiment, and the effect of AbM extract on the expression and phosphorylation level of related proteins was verified by Western blot. Results The prediction results showed that 126 active components of AbM extract, and 172 common targets were collected. KEGG pathway analysis results showed that PI3K/Akt/mTOR signaling pathway might play an important role in the treatment of CML disease. The IC

Mechanism of Wen Shen Xuan Bi Tang in treatment of osteoporosis based on network pharmacology and animal experimental verification / 中国药理学通报

Aim To predict and validate the mechanism of wenshen xuanbi tang(WSXBT) in treatment of osteoporosis (OP) based on network pharmacology, molecular docking techniques and in vivo experimental techniques. Methods Network pharmacology was used to screen the key ingredients and core targets of WSXBT for the treatment of osteoporosis. Metascape database was used for gene ontology (GO) biological process enrichment analysis and kyoto encyclopedia of genes and genomes (KEGG) signaling pathway enrichment analysis of core targets. AutoDockTools 1. 5. 7 software was applied in molecular docking to simulate the binding activity of key active ingredients to core targets. To study the efficacy of WSXBT on rats with osteoporosis and to verify the related targets and pathways, rat models of osteoporosis were established by excising the bilateral ovaries of rats. Enzyme-linked immunosorbent assay (ELISA) was used to detect the serum OPG, PINP and RANKL content. Biomechanical tester was applied to test the biomechanics of rat femurs. Micro-CT was applied to detect the femoral bone density. Then, Western blot was employed to measure the protein expression levels of phosphatidylinositol 3-kinase (PI3K) and protein kinase B (Akt). Results A total of 156 active ingredients of WSXBT were screened, involving 229 potential targets, 23 core targets and 145 signaling pathways. The molecular docking results showed that five key ingredients, including quercetin, kaempferol, naringenin, isobavachin and licochalcone a, possessed good binding ability to the core targets of PIK3R1 and AKT1. The results of in vivo experiments showed that WSXBT could significantly increase bone density, improve bone tissue microstructure, enhance femur biomechanics and increase PINP expression and OPG/RANKL ratio in rats with osteoporosis. Results of WB showed that WSXBT significantly increased p-PI3K/PI3K and p-Akt/Akt ratios. Conclusions WSXBT could improve bone mineral density in postmenopausal osteoporotic rats through PI3K/ Akt signaling pathway and increasing OPG/RANKL ratio.

Improvement on Quality Standard of Yuanhu Zhitong Oral Liquid / 中国实验方剂学杂志

ObjectiveTo improve the quality standard of Yuanhu Zhitong oral liquid in order to strengthen the quality control of this oral liquid. MethodThin layer chromatography（TLC） was used for the qualitative identification of Corydalis Rhizoma and Angelicae Dahuricae Radix in Yuanhu Zhitong oral liquid by taking tetrahydropalmatine， corydaline reference substances and Corydalis Rhizoma reference medicinal materials as reference， and cyclohexane-trichloromethane-methanol（5∶3∶0.5） as developing solvent， Corydalis Rhizoma was identified using GF254 glass thin layer plate under ultraviolet light（365 nm）. And taking petroleum ether（60-90 ℃） -ether-formic acid（10∶10∶1） as developing solvent， Angelicae Dahuricae Radix was identified using a silica gel G TLC plate under ultraviolet light（305 nm）. High performance liquid chromatography（HPLC） was performed on a Waters XSelect HSS T3 column（4.6 mm×250 mm， 5 μm） with acetonitrile（A）-0.1% glacial acetic acid solution（adjusted pH to 6.1 by triethylamine）（B） as the mobile phase for gradient elution（0-10 min， 20%-30%A； 10-25 min， 30%-40%A； 25-40 min， 40%-50%A； 40-60 min， 50%-60%A）， the detection wavelength was set at 280 nm， then the fingerprint of Yuanhu Zhitong oral liquid was established， and the contents of tetrahydropalmatine and corydaline were determined. ResultIn the thin layer chromatograms， the corresponding spots of Yuanhu Zhitong oral liquid， the reference substances and reference medicinal materials were clear， with good separation and strong specificity. A total of 12 common peaks were identified in 10 batches of Yuanhu Zhitong oral liquid samples， and the peaks of berberine hydrochloride， dehydrocorydaline， glaucine， tetrahydropalmatine and corydaline. The similarities between the 10 batches of samples and the control fingerprint were all >0.90. The results of determination showed that the concentrations of corydaline and tetrahydropalmatine had good linearity with paek area in the range of 0.038 6-0.193 0， 0.034 0-0.170 0 g·L-1， respectively. The methodological investigation was qualified， and the contents of corydaline and tetrahydropalmatine in 10 batches of Yuanhu Zhitong oral liquid samples were 0.077 5-0.142 9、0.126 1-0.178 2 g·L-1， respectively. ConclusionThe established TLC， fingerprint and determination are simple， specific and reproducible， which can be used to improve the quality control standard of Yuanhu Zhitong oral liquid.

Exploration on the Cultivation Path of Medical Students’ Professional Spirit in the Post-epidemic Era / 中国医学伦理学

In the fight against COVID-19, under the guidance of medical professionalism, the majority of medical workers adhered to the scientific spirit of rigorous truth-seeking and innovation, and the humanitarian feelings of boundless love and dedication, and made outstanding contributions to prevention and control. However, the epidemic situation fluctuates repeatedly, the virus mutates frequently, and the risk of major public health emergencies has caused deep thinking on the cultivation of medical students’ professionalism. Medical students are the reserve force for the sustainable development of China’s medical and health undertakings. The times and society endow medical students with a more lofty and arduous historical mission, and also call for strengthening the cultivation of medical students’ professional spirit. Under the background of normalization of epidemic prevention and control, responding to the demands of the times, providing high-quality medical talents for the society, promoting building the doctor-patient desting community, and promoting the reality of the healthy China strategy, efforts to explore the path of cultivating medical students’ professionalism with "three combinations, two considerations and one emphasis".

Analysis of the results of the nationwide interlaboratory comparison of gross α and gross β radioactivity measurement / 中国辐射卫生

Objective To summarize and improve the related technical issues by analyzing the nationwide interlaboratory comparison of gross α and gross β radioactivity measurement over the years. Methods According to the requirements of interlaboratory comparison and the national standards, the gross α and gross β radioactivity in water were measured, and the results were analyzed to identify the influencing factors. Results From 2018 to 2022, our laboratory participated in five nationwide interlaboratory comparisons of gross α and gross β radioactivity measurement. The Z-test values for gross α and gross β measurement ranged from −0.24 to 1.8 and −1.4 to 0.35, respectively. The relative deviations ranged from −4% to 32% and −18% to 6%, respectively. All comparisons were within the acceptable ranges. Conclusion The analysis of comparisons showed that the results were within the acceptable ranges. The relative deviations between the measurement and the reference values have decreased over the years. The summary and improvement of related technologies have improved the measurement accuracy.

Effect of Gegen Qinliantang on Fecal Short-chain Fatty Acids in Rats with Antibiotic-associated Diarrhea Based on Targeted Metabonomics / 中国实验方剂学杂志

ObjectiveTo explore the impact of Gegen Qinliantang（GQT） on the fecal short-chain fatty acids（SCFAs） metabolism in antibiotic-associated diarrhea（AAD） through targeted metabolomics. MethodA total of 240 SD rats were randomly divided into six groups（n=40， half male and half female）， including blank group， model group， bifidobiogen group（0.15 g·kg-1）， and GQT high-， medium-， and low-dose groups（10.08， 5.04， 2.52 g·kg-1）， except for the blank group， clindamycin（250 mg·kg-1） was given to all groups by gavage for modeling every day for 7 d. After successful modeling， each administered group was gavaged with the corresponding dose of the drug， and the blank and model groups were gavaged with an equal volume of normal saline solution， 1 time/d， for 14 d. At 0， 3， 7， 14 d after the drug intervention， eight rats were randomly selected from each group， respectively. Gas chromatography-time-of-flight mass spectrometry（GC-TOF-MS） was used to perform targeted metabolomic analysis of SCFAs in the feces of rats， and partial least squares-discriminant analysis（PLS-DA） was applied to compare the differences in metabolic profiles between groups at different treatment times， and to compare the changes in the contents of SCFAs in rat feces between groups. ResultPLS-DA results showed that the blank group could be clearly distinguishable from the model group， with GQT exhibiting a closer proximity to the blank group after 7 d of treatment. After further analyzing the composition of SCFAs， it was found that the proportion of acetic acid increased and the proportions of butyric acid， valeric acid， hexanoic acid and isovaleric acid decreased in the model group compared with the blank group. After the treatment with GQT， the proportions of butyric acid， isobutyric acid， valeric acid， and isovaleric acid increased， and the proportions of acetic acid， propionic acid and caproic acid decreased. Subsequent differential analysis revealed that GQT could significantly improve the content of butyric acid， and had a certain retrogressive effect on the contents of valeric acid and hexanoic acid. ConclusionThe medium dose group of GQT can improve the contents of SCFAs in AAD feces after 7 days of treatment， which may be related to the improvement of the composition ratio of SCFAs and the contents of butyric acid， valeric acid and caproic acid.

Association between muscle mass and quality of life in Shaanxi adults / 中华流行病学杂志

Objective: To investigate the association between muscle mass and quality of life in adults in Shaanxi adults. Methods: The data in this analysis were part of the baseline survey of the Regional Ethnic Cohort Study in Northwest China from June 2018 to May 2019 in Shaanxi Province. The participants' quality of life, including physical component summary (PCS) and mental component summary (MCS), was assessed by the 12-Item Short Form Survey, and the Body Fat Determination System measured muscle mass. A logistic regression model with adjustment for confounding factors was established to analyze the association between muscle mass and quality of life in different genders. Further, sensitivity and subgroup analyses were conducted to explore its stability. Finally, a restricted cubic spline was employed to investigate the dose-response relationship between muscle mass and quality of life in different genders. Results: A total of 20 595 participants were included, with an average age of 55.0, and 33.4% were male. After controlling for potential confounders, compared with the Q1 group, the risk of low PCS was reduced by 20.6% (OR=0.794, 95%CI: 0.681-0.925) and the risk of low MCS was lower reduced by 20.1% (OR=0.799, 95%CI: 0.689-0.926) in female Q5 groups. Compared with the Q1 group, the risk of low PCS was reduced by 24.4% (OR=0.756, 95%CI: 0.644-0.888) in the male Q2 group. However, no significant association between muscle mass and MCS in males has been found. In females, restricted cubic spline analysis showed a significant linear dose-response relationship between muscle mass and PCS and MCS. Conclusions: There is a positive association between muscle mass and quality of life in Shaanxi adults, especially females. With the increase in muscle mass, the physical and mental functions of the population continue to improve.

The correlations between influenza and meteorological factors in 15 cities of northern China, 2008-2020 / 中华流行病学杂志

Objective: To understand the influence of meteorological factors on the morbidity of influenza in northern cities of China and explore the differences in the influence of meteorological factors on the morbidity of influenza in 15 cities. Methods: The monthly reported morbidity of influenza and monthly meteorological data from 2008 to 2020 were collected in 15 provincial capital cities, including Xi 'an, Lanzhou, Xining, Yinchuan and Urumqi (5 northwestern cities), Beijing, Tianjin, Shijiazhuang, Taiyuan, Hohhot, Ji'nan, Zhengzhou (7 northern cities), Shenyang, Changchun and Harbin (3 northeastern cities). The panel data regression model was applied to conduct quantitative analyze on the influence of meteorological factors on influenza morbidity. Results: The univariate and multivariate panel regression analysis showed that after controlling the population density and other meteorological factors, for each 5 ℃ drop of monthly average temperature, the morbidity change percentage (MCP) of influenza was 11.35%, 34.04% and 25.04% in the 3 northeastern cities, 7 northern cities and 5 northwestern cities, respectively, and the best lag period months was 1, 0 and 1 month; When the monthly average relative humidity decreased by 10%, the MCP was 15.84% in 3 cities in northeastern China and 14.80% in 7 cities in northern China respectively, and the best lag period months was 2 and 1 months respectively; The MCP of 5 cities in northwestern China was 4.50% for each 10 mm reduction of monthly accumulated precipitation, and the best lag period months was 1 month; The MCPs of 3 cities in northeastern China and 5 cities in northwestern China were 4.19% and 5.97% respectively when the accumulated sunshine duration of each month decreased by 10 hours, the best lag period months was 1 month. Conclusions: In northern cities of China from 2008 to 2020, the temperature, relative humidity, precipitation and sunshine duration all had negatively impact on the morbidity of influenza, and temperature and relative humidity were the main sensitive meteorological factors. Temperature had a strong direct impact on the morbidity of influenza in 7 cities in northern China, and relative humidity had a strong lag effect on the morbidity of influenza in 3 cities in northeastern China. The duration of sunshine in 5 cities in northwestern China had a greater impact on the morbidity of influenza compared with 3 cities in northeastern China.

Thinking about development of multi-channel surveillance and multi-dimensional early warning system of emerging respiratory communicable diseases / 中华流行病学杂志

The world has paid a heavy price for the pandemic of the emerging respiratory communicable disease, so more concern about communicable disease surveillance and early warning has been aroused. This paper briefly reviews the establishment of the surveillance and early warning system of respiratory communicable diseases in China, discusses its future development and introduces the novel surveillance methods and early warning models for the purpose of establishment of a multi-channel surveillance and multi-dimensional early warning system of communicable diseases in the future and the improvement of the prevention and control of emerging respiratory communicable diseases in China.

Exposure level of neonicotinoid pesticides and their metabolites in pregnant women in the suburb of Shanghai / 中华预防医学杂志

In 2021, a total of 151 pregnant women were selected from the suburb of Shanghai. A questionnaire survey was conducted to obtain data about maternal age, gestational week, total annual household income, education level and passive smoking among pregnant women and one spot urine was collected. The concentrations of eight neonicotinoid pesticides and four metabolites in urine were measured by ultra-high performance liquid chromatography-tandem quadrupole time-of-flight mass spectrometry. The differences in detection frequencies and concentrations of neonicotinoid pesticides and their metabolites among pregnant women with different characteristics were compared, and the influencing factors of the detection of neonicotinoid pesticides in urine were analyzed. The results showed that at least one neonicotinoid pesticide was detected in 93.4% (141 samples) of urine samples. The detection frequencies of N-desmethyl-acetamiprid, clothianidin, thiamethoxam, and N-desmethyl-clothianidin were high, about 78.1% (118 samples), 75.5% (114 samples), 68.9% (104 samples), and 44.4% (67 samples), respectively. The median concentration of the sum of all neonicotinoid pesticides was 2.66 μg/g. N-desmethyl-acetamiprid had the highest detection concentration with a median concentration of 1.04 μg/g. A lower urinary detection frequency of imidacloprid and its metabolites was seen in pregnant women aged 30-44 years [OR (95%CI): 0.23 (0.07-0.77)]. A higher detection frequency of clothianidin and its metabolites was seen in pregnant women with per capita annual household income≥100 000 yuan [OR (95%CI): 6.15 (1.56-24.28)]. There was widespread exposure to neonicotinoid pesticides and their metabolites in pregnant women from the suburb of Shanghai, which might pose potential health risks to pregnant women, and maternal age and household income were potential influencing factors of the exposure to neonicotinoid pesticides.

Correction of the pathogenic mutation in the G6PC3 gene by adenine base editing in mutant embryos / 中华血液学杂志

Objective: To determine whether the adenine base editor (ABE7.10) can be used to fix harmful mutations in the human G6PC3 gene. Methods: To investigate the safety of base-edited embryos, off-target analysis by deep sequencing was used to examine the feasibility and editing efficiency of various sgRNA expression vectors. The human HEK293T mutation models and human embryos were also used to test the feasibility and editing efficiency of correction. Results: ①The G6PC3(C295T) mutant cell model was successfully created. ②In the G6PC3(C295T) mutant cell model, three distinct Re-sgRNAs were created and corrected, with base correction efficiency ranging from 8.79% to 19.56% . ③ ABE7.10 could successfully fix mutant bases in the human pathogenic embryo test; however, base editing events had also happened in other locations. ④ With the exception of one noncoding site, which had a high safety rate, deep sequencing analysis revealed that the detection of 32 probable off-target sites was <0.5% . Conclusion: This study proposes a new base correction strategy based on human pathogenic embryos; however, it also produces a certain nontarget site editing, which needs to be further analyzed on the PAM site or editor window.

Quality evaluation of the literature on clinical randomized controlled trials of traditional Chinese medicine for treatment of gastric precancerous lesions in the past 20 years / 浙江大学学报·医学版

OBJECTIVES@#To evaluate the methodological quality of randomized controlled trials (RCTs) of traditional Chinese medicines for the treatment of gastric precancerous lesions in the past 20 years.@*METHODS@#The RCTs on traditional Chinese medicines for gastric precancerous lesions were searched from the CNKI, Wanfang database, VIP, PubMed, and Embase from January 2001 to December 2021. The retrieved articles were screened, extracted and evaluated based on the 2010 edition of CONSORT statement, Cochrane Risk of Bias Assessment Scale and additional evaluation indicators.@*RESULTS@#A total of 840 papers were included. According to the Cochrane Risk of Bias Assessment Scale, the high risk of bias in the application of randomized methods was 5.95%; the risk of uncertainty for the allocation scheme concealment was 98.93%; the risk of uncertainty for blinding of patients or testers was 98.69%; the risk of uncertainty for blinding of the outcome assessor was 100.00%; the risk of bias for completeness of the outcome data was 2.86%; and the risk of uncertainty for selective reporting was 98.45%. The CONSORT statement evaluating the quality of reporting showed that 100.00% of the RCT articles reported the 8 entries; 36.79% of the literature mentioned the method of randomized sequence generation, but only 27.62% of the literature mentioned who implemented the randomized program, 1.07% of the literature hid the randomized program and 1.31% of the studies were blinded; 36.67% of the literature reported adverse reactions; no literature reported sample size prediction methods. Additional evaluation indicators showed that 17.02% of the studies had ethical approval; 43.81% of the literature specified Chinese medicine evidence; 16.55% of the studies excluded severe heterotrophic hyperplasia; 7.26% of the studies conducted follow-up; and 65.12% of the literature used composite efficacy indicators; 46.67% of the literature applied pathological histological evaluation; 2.62% of the literature applied quality of life evaluation.@*CONCLUSIONS@#The overall risk of bias in RCTs of traditional Chinese medicines for gastric precancerous lesions is high, and the quality of most of the study reports needs to be improved. In the future, it is necessary to strengthen the study design of RCTs and refer to appropriate traditional Chinese medicines evidence grading standards, select study protocols according to different purposes, provide objective and strong evidence for clinical studies on traditional Chinese medicines, and carry out clinical study design and result reporting suitable for traditional Chinese medicines according to the CONSORT principle.

Analysis of a Chinese pedigree affected with rare heart diseases due to variants of TNNI3 and TAZ genes / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with rare type heart disease.@*METHODS@#A pedigree identified at Shenzhen Maternity and Child Health Care Hospital Affiliated to Southern Medical University on July 9, 2021 was selected as the study subject. Clinical data were collected. Trio-whole exome sequencing (WES) was carried out for the proband and his parents. Candidate variants were validated by Sanger sequencing of his family members and bioinformatic analysis.@*RESULTS@#The proband, a 5-month-old male, was found to have Barth syndrome (dilated myocardiopathy and left ventricular non-compaction). Trio-WES revealed that he has harbored a hemizygous c.542G>A (p.G181A) variant of the TAZ gene, which was inherited from his mother. In addition, his mother, aunt and maternal grandmother were also found to harbor a c.557G>A (p.R186Q) variant of the TNNI3 gene. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.542G>A (p.G181A) variant of the TAZ gene was classified as likely pathogenic (PS2_Strong+PM2_Supporting+PP3), whilst the c.557G>A (p.R186Q) variant of the TNNI3 gene was classified as pathogenic (PP1_Strong+PS4_Strong+PP3+PP4+PM2_Supporting).@*CONCLUSION@#The c.542G>A (p.G181A) variant of the TAZ gene probably underlay the Barth syndrome in the proband, and the c.557G>A (p.R186Q) variant of the TNNI3 gene may be responsible for the hypertrophic cardiomyopathy in his mother, aunt and maternal grandmother. Above finding has expanded the mutational spectrum of the TAZ gene and facilitated the diagnosis of this pedigree.

ETCM v2.0: An update with comprehensive resource and rich annotations for traditional Chinese medicine

Existing traditional Chinese medicine (TCM)-related databases are still insufficient in data standardization, integrity and precision, and need to be updated urgently. Herein, an Encyclopedia of Traditional Chinese Medicine version 2.0 (ETCM v2.0, http://www.tcmip.cn/ETCM2/front/#/) was constructed as the latest curated database hosting 48,442 TCM formulas recorded by ancient Chinese medical books, 9872 Chinese patent drugs, 2079 Chinese medicinal materials and 38,298 ingredients. To facilitate the mechanistic research and new drug discovery, we improved the target identification method based on a two-dimensional ligand similarity search module, which provides the confirmed and/or potential targets of each ingredient, as well as their binding activities. Importantly, five TCM formulas/Chinese patent drugs/herbs/ingredients with the highest Jaccard similarity scores to the submitted drugs are offered in ETCM v2.0, which may be of significance to identify prescriptions/herbs/ingredients with similar clinical efficacy, to summarize the rules of prescription use, and to find alternative drugs for endangered Chinese medicinal materials. Moreover, ETCM v2.0 provides an enhanced JavaScript-based network visualization tool for creating, modifying and exploring multi-scale biological networks. ETCM v2.0 may be a major data warehouse for the quality marker identification of TCMs, the TCM-derived drug discovery and repurposing, and the pharmacological mechanism investigation of TCMs against various human diseases.

Characteristics of kidney diseases in children aged 0-3 years old / 中华肾脏病杂志

Objective:To investigate the characteristics of renal disease spectrum in children aged 0-3 years old, and to evaluate the clinical value of renal biopsy in children aged 0-3 years old with renal diseases.Methods:It was a retrospective analysis study. The children aged 0-3 years old with kidney diseases receiving renal biopsy and having complete clinical data in Shanghai Children's Hospital from January 1, 2009 to December 31, 2020 were enrolled. The clinical and pathological data of the children were collected. The spectrum of renal diseases, clinical phenotype, renal pathology, and the relationship between renal pathology/genotype and clinical phenotype were analyzed.Results:A total of 117 children aged 0-3 years old with kidney diseases were enrolled in the study, accounting for 6.5% (117/1 790) of all children (0-18 years old) with renal biopsies during the same period. There were 77 males and 40 females. The age was (2.20±0.51) years old (5-35 months). All cases of renal biopsies in children aged 0-3 years old were successful without serious complications. Nephrotic syndrome was the common clinical phenotype of kidney diseases in children aged 0-3 years old (59.0%, 69/117), followed by hematuria and proteinuria (29.1%, 34/117). Primary glomerular disease (69.2%, 81/117) was the major clinical type of renal diseases, followed by hereditary kidney diseases (29.1%, 34/117), in which Alport syndrome was the main hereditary kidney disease (79.4%, 27/34). Renal pathological types of children aged 0-3 years old were mainly distributed in minimal change disease (30.8%, 36/117), followed by glomerular minor lesion (26.5%, 31/117), mesangial proliferative glomerulonephritis (15.4%, 18/117), and focal segmental glomerulosclerosis (10.3%, 12/117). Among 40 children aged 0-3 years old with hematuria with/without proteinuria, 25 cases were diagnosed as Alport syndrome by abnormal immunofluorescence of type IV collagen in renal tissues. Among the 28 children with kidney diseases who underwent genetic testing, 23 cases had gene mutations, mainly in COL4A5 gene (60.9%, 14/23), among which 4 children had gene mutations in 8 children with refractory nephrotic syndrome. Among the children aged 0-3 years old with clinical manifestations of hematuria, the proportion of gross hematuria in children diagnosed with Alport syndrome (59.3%, 16/27) was significantly higher than that in children without Alport syndrome (20.0%, 3/15, χ2=5.999, P=0.014). Conclusions:Primary glomerular disease is the principal type of kidney diseases in children aged 0-3 years old, followed by hereditary kidney disease. Attention should be paid to children aged 0-3 years old with gross hematuria. Renal biopsy in children aged 0-3 years old is safe and reliable, and it is an essential means for the diagnosis of renal diseases. Renal biopsy combined with gene testing can better understand the etiology of kidney diseases and guide treatment in children aged 0-3 years old.

Progress on evaluation of dysphagia in patients with Parkinson′s disease / 中华神经科杂志

Parkinson′s disease (PD) is a common neurodegenerative disease. The prevalence of dysphagia in patients with PD is 16%-87%. Dysphagic patients show abnormalities in the oral, pharyngeal and esophageal phases of swallowing. The evaluation tools of dysphagia in patients with PD include instrumental assessment tools, non-instrumental objective assessment tools and subjective assessment tools. Videofluoroscopic study of swallowing and flexible endoscopic examination of swallowing are the gold standards for swallowing assessment in patients with PD; high-resolution manometry, tongue pressure measurement, surface electromyography and ultrasonography can be used as supplementary tests; the Swallowing Disturbance Questionnaire Scale, which is sensitive, specific, reliable and valid, is recommended as a screening tool.

Advances in treatment and prognosis of MiT family translocated renal cell carcinoma / 中华泌尿外科杂志

MiT family translocation renal cell carcinoma mainly includes Xp11.2/TFE3 gene fusion-related renal cell carcinoma (TFE3 RCC)and t(6; 11)/TFEB gene fusion-related renal cell carcinoma(TFEB RCC), which is rare and there is no standard treatment plan yet, and the prognosis is still controversial. For localized lesions, surgery is the first choice for treatment, and systemic treatment such as targeted drugs and immune checkpoint inhibitors can be combined when there is metastasis. The application of gene testing provides the basis for personalized treatment. TFE3 RCC is highly invasive and has a poor prognosis, while TFEB RCC usually has a biological behavior of inertia and a better prognosis.