Objective:To explore the genetic and clinical characteristics of Guizhou patients with enlarged vestibular aqueduct（EVA） syndrome through combined SLC26A4 variant analysis and clinical phenotype analysis. Methods:Seventy-two EVA patients underwent comprehensive genetic testing using a multiplex PCR-based deafness gene panel and next-generation sequencing（NGS）. The audiological and temporal bone imaging characteristics were compared across mutation subtypes. Results:A total of 27 pathogenic loci of SLC26A4 were detected in 72 patients, including c.919-2A>G in 79.2%（57/72）. A novel deletion（c.1703_1707+6del） was discovered. Among 65 cases, truncated mutations were 89.2%（58/65）, 52.3%（34/65）, 28（43.1%） and 7（10.8%）. No significant differences were observed in the midpoint diameter of the vestibular aqueduct and the incidence of incomplete partitioning typeⅡ（IP-Ⅱ） of the cochlea among the three groups of patients. Moreover, there was no difference in the midpoint diameter of different vestibular pipes or the combination with IP-Ⅱ. Conclusion:The most common mutation site of SLC26A4 in EVA patients in Guizhou is c.919-2A>G, though genotype-phenotype correlations remain elusive. The detection of 27 mutation sites and the discovery of new mutation sites suggested the precise diagnostic significance of NGS technology in EVA patients in Guizhou.
Humans ; Sulfate Transporters ; Vestibular Aqueduct/abnormalities* ; Mutation ; Membrane Transport Proteins/genetics* ; Hearing Loss, Sensorineural/genetics* ; Male ; Female ; Child ; Adolescent ; Child, Preschool ; Adult ; Young Adult ; Phenotype ; High-Throughput Nucleotide Sequencing

BACKGROUND: Over 65 million people have long COVID. Evidence for using Chinese herbal medicine (CHM) to treat long COVID is growing. A systematic review of evidence for guiding clinical decision is warranted. OBJECTIVE: To examine the effects and safety of CHM in alleviating the severity of dyspnea, fatigue, exercise intolerance, depression, anxiety and insomnia in long COVID adults based on registered randomized clinical trials (RCT). SEARCH STRATEGY: World Health Organization International Clinical Trials Registry Platform and Chinese Clinical Trial Registry were searched for registered trial protocols from database inception to February 10, 2023. English (PubMed, Embase, AMED and CINAHL) and Chinese databases (CNKI, Wanfang Data and CQVIP) were then searched to identify relevant publications from December 2019 through April 6, 2023. INCLUSION CRITERIA: Registered RCTs that compared the effects of Chinese herbal medicines or Chinese herbal formulas against a control treatment (i.e., the placebo or usual care) in adults with persistent symptoms of long COVID. The primary outcome of dyspnea, and secondary outcomes of fatigue, exercise intolerance, depression, anxiety and insomnia were measured using validated tools at the end of the treatment. DATA EXTRACTION AND ANALYSIS: Data were extracted, and eligible RCTs were evaluated using version 2 of the Cochrane risk-of-bias tool for randomized trials and Grading of Recommendations, Assessment, Development and Evaluations independently by two researchers. Effect sizes were estimated by random-effects modelling and mean difference (MD). Heterogeneity between trials was quantified by I². RESULTS: Among the 38 registered clinical trials we identified, seven RCTs (1,519 patients) were included in the systematic review. One RCT had a low overall risk of bias. Compared to the control, CHM reduces dyspnea on the Borg Dyspnea Scale score (MD = -0.2, 95% confidence interval [CI] = -0.65 to 0.25) with moderate certainty, and reduces fatigue on the Borg Scale (MD = -0.48, 95% CI = -0.74 to -0.22) with low certainty. CHM clinically reduces depression on Hamilton Depression Rating Scale score (MD = -6.00, 95% CI = -7.56 to -4.44) and anxiety on Hamilton Anxiety Rating Scale score (MD = -6.10, 95% CI = -7.67 to -4.53), and reduces insomnia on the Insomnia Severity Index (MD = -4.86, 95% CI = -12.50 to 2.79) with moderate certainty. Meta-analysis of two RCTs (517 patients) showed that CHM clinically improves exercise intolerance by increasing 6-minute walking distance (MD = -15.92, 95% CI = -10.20 to 42.05) with substantial heterogeneity (I² = 68%) and low certainty. CONCLUSION CHM is associated with a post-treatment clinical reduction in depression and anxiety in long COVID adults, compared to the control, but it does not have a strong treatment effect on dyspnea and insomnia. Effects of CHM on exercise intolerance and fatigue are uncertain, and the safety of using CHM remains questionable. Please cite this article as: Tsang MS, Zhou IW, Zhang AL, Xue CC. Chinese herbal medicine for dyspnea and persistent symptoms of long COVID: A systematic review and meta-analysis of randomized controlled trials. J Integr Med. 2025; 23(2): 126-137.
Humans ; Dyspnea/etiology* ; Drugs, Chinese Herbal/therapeutic use* ; Randomized Controlled Trials as Topic ; COVID-19/complications* ; Fatigue/drug therapy* ; SARS-CoV-2 ; Anxiety/drug therapy* ; Depression/drug therapy* ; Sleep Initiation and Maintenance Disorders/drug therapy* ; Betacoronavirus

Chinese medicine has been used for centuries to treat a range of health conditions.This history has produced a wealth of classical literature,case studies and clinical research data detailing its use and effectiveness.However,high-quality and conclusive evidence that meets modern requirements for clinical decision support is lacking.This evidence gap limits the integration of Chinese medicine with contemporary medicine,which in turn limits global access and acceptance of Chinese medicine as a form of safe and effective health care.Over the past 20 years,researchers and organisations around the world,including the World Health Organization(WHO)and United Nations,have worked to support the integration of traditional medicines,such as Chinese medicine,with conventional medicines to improve global health care.This paper provides an overview of Chinese medicine studies published in the top four general medical journals(BMJ,JAMA,Lancet and New England Journal of Medicine)from February 2005 to February 2024 in the past 20 years to highlight the progress in the development of this evidence base.It also highlights key actions taken to promote evidence-based clinical Chinese medicine,including product and practitioner regulation,formalising education standards,and international collaborations.Research conducted at the China-Australia International Research Centre for Chinese Medicine demonstrates the benefits of such a collaboration.Through development of its unique and inclusive'whole-evidence'approach,plus clinical studies and systematic reviews,the Centre has significantly contributed to the evidence base for clinical Chinese medicine.In addition,its high-impact papers and groundbreaking monographs have been cited in international conventional medicine guidelines.While progress has certainly been made during the past 20 years to build a stronger evidence base for clinical Chinese medicine,there is still a considerable gap that limits its integration with conventional medicine.Future funding and research are needed to continue this work and achieve to safe,effective and accessible traditional medicine as part of the WHO's Universal Health Coverage strategy.

RBM46 is a germ cell-specific RNA-binding protein required for gametogenesis, but the targets and molecular functions of RBM46 remain unknown. Here, we demonstrate that RBM46 binds at specific motifs in the 3'UTRs of mRNAs encoding multiple meiotic cohesin subunits and show that RBM46 is required for normal synaptonemal complex formation during meiosis initiation. Using a recently reported, high-resolution technique known as LACE-seq and working with low-input cells, we profiled the targets of RBM46 at single-nucleotide resolution in leptotene and zygotene stage gametes. We found that RBM46 preferentially binds target mRNAs containing GCCUAU/GUUCGA motifs in their 3'UTRs regions. In Rbm46 knockout mice, the RBM46-target cohesin subunits displayed unaltered mRNA levels but had reduced translation, resulting in the failed assembly of axial elements, synapsis disruption, and meiotic arrest. Our study thus provides mechanistic insights into the molecular functions of RBM46 in gametogenesis and illustrates the power of LACE-seq for investigations of RNA-binding protein functions when working with low-abundance input materials.
Animals ; Mice ; 3' Untranslated Regions/genetics* ; Cell Cycle Proteins/metabolism* ; Gametogenesis/genetics* ; Meiosis/genetics* ; Nuclear Proteins/genetics* ; RNA-Binding Proteins/genetics*

Objective:To compare the differences of postoperative clinical target volume of internal mammary lymph node (CTV ImlN) by different delineation methods, and to explore the reasonable method of CTV ImlN delineation after internal mammary lymph node dissection (ImlND). Methods:A total of 20 breast cancer patients who had undergone modified radical mastectomy (MRM) with ImlND on the affected side and had complete preoperative and postoperative CT images were selected. The CTV (CTV pr-I, CTV pr-a) of both sides of ImlN were delineated on preoperative CT images according to RTOG guideline. On postoperative CT images, three different methods including deformation image registration (DIR) method, visual contrast method and precise measurement method, were employed to delineate the postoperative CTV ImlN of the affected side. The targets were named as CTV DIR, CTV V and CTV M, respectively. The central displacement, target volume, degree of inclusion (DI) and conformity index (CI) of CTV pr-a, CTV V, CTV M and CTV DIR were compared. Results:The central displacement of CTV V, CTV M and CTV DIR from CTV pr-a was 2.17 cm, 1.44 cm and 1.25 cm, respectively. The target volume of CTV pr-a, CTV pr-I, CTV V, CTV M and CTV DIR was 2.10 cm 3, 2.17 cm 3, 2.04 cm 3, 1.88 cm 3 and 2.07 cm 3 respectively. There was no significant difference in the target volume (all P>0.05). The CI values of CTV V-CTV pr-a and CTV M-CTV pr-a were both 0.16, and that of CTV DIR-CTV pr-a was 0.43. The CI value of CTV DIR was significantly higher than those of CTV V and CTV M (both P<0.01). The DI values of CTV V-CTV pr-a, CTV M-CTV pr-a and CTV DIR-CTV pr-a were 0.26, 0.24 and 0.58, respectively. The DI value of CTV DIR was significantly higher than those of CTV V and CTV M (both P<0.01). Conclusions:It is difficult to accurately delineate the CTV ImlN for patients after ImlND. However, the spatial position fitness of the target region delineated by DIR method is better than those by visual contrast and precise measurement methods.

The current document is based on a consensus reached by a panel of experts from the Chinese Society of Allergy and the Chinese Society of Otorhinolaryngology-Head and Neck Surgery, Rhinology Group. Chronic rhinosinusitis (CRS) affects approximately 8% of Chinese adults. The inflammatory and remodeling mechanisms of CRS in the Chinese population differ from those observed in the populations of European descent. Recently, precision medicine has been used to treat inflammation by targeting key biomarkers that are involved in the process. However, there are no CRS guidelines or a consensus available from China that can be shared with the international academia. The guidelines presented in this paper cover the epidemiology, economic burden, genetics and epigenetics, mechanisms, phenotypes and endotypes, diagnosis and differential diagnosis, management, and the current status of CRS in China. These guidelines—with a focus on China—will improve the abilities of clinical and medical staff during the treatment of CRS. Additionally, they will help international agencies in improving the verification of CRS endotypes, mapping of eosinophilic shifts, the identification of suitable biomarkers for endotyping, and predicting responses to therapies. In conclusion, these guidelines will help select therapies, such as pharmacotherapy, surgical approaches and innovative biotherapeutics, which are tailored to each of the individual CRS endotypes.
Adult ; Asian Continental Ancestry Group ; Biomarkers ; China ; Consensus ; Diagnosis ; Diagnosis, Differential ; Drug Therapy ; Eosinophils ; Epidemiology ; Epigenomics ; Genetics ; Humans ; Hypersensitivity ; Inflammation ; International Agencies ; Medical Staff ; Neck ; Phenotype ; Precision Medicine

Objective To describe the application of Vapocoolant spray for alleviating pain during intravenous cannulation in foreign countries. Methods We interviewed literature related with Vapocoolant spray for alleviating pain during intravenous cannulation. The databases included China National Knowledge Infrastructure, and Wanfang Data, Web of Science, PubMed. Results It is still controversial that Vapocoolant spray could alleviating pain during intravenous cannulation and there are few studies about Vapocoolant spray in China. Conclusions More high quality randomized controlled studies are needed to provide evidence for the controversy. Provide reference for medical staff with alleviate pain during intravenous cannulation.

Objective To investigate the influence of proline-rich tyrosine kinase 2 (Pyk2)gene RNA interference on proliferation,invasion and migration of Hep3B hepatocellular carcinoma cells.Methods The Pyk2 gene RNA interference vector was transfected in Hep3B hepatocellular carcinoma cells by lipofectamine. The Hep3B cells divided into three groups:siRNA group (the vector with Pyk2 RNAi gene was transfected), negative control group (the vector without Pyk2 RNAi gene was transfected),and blank control group (no vectors was transfected).Pyk2 mRNA and protein were detected using reverse transcription reverse transcription-poly-merase chain reaction (RT-PCR)and Western blotting.The biological behavior including cell proliferation,inva-sion and migration were detected by 3-(4,5-dimethyl-2-thiazoly)-2,5-diphenyl-2H-tetrazolium bromide (MTT), transwell and wound healing assay,respectively.Results The expression of Pyk2 mRNA of Hep3B cell line in siRNA group (0.1 6 ±0.03)was significantly decreased than those in negative group (0.74 ±0.1 3)and blank control group (0.77 ±0.1 6),with statistically significant differences (t=51 .46,P=0.000;t=53.21 ,P=0.000).The expression of Pyk2 protein of Hep3B cell line in siRNA group (0.24 ±0.06)was significantly decreased than those in negative group (0.83 ±0.05)and blank control group (0.91 ±0.06),with statisti-cally significant differences (t=57.29,P=0.000;t=68.53,P=0.000).The cell proliferation inhibition rate at 48 hours in siRNA group (26.1 7%±0.28%)was significantly raised than those in negative group (9.28%± 0.22%)and blank control group (6.47%±0.31%),with statistically significant differences (t=31 .45,P=0.004;t=34.64,P=0.002).The number of transmembrane cells in siRNA group (32.5 ±8.5)/1 0 HP was significantly declined than those in negative group (98.4 ±1 2.3 )/1 0 HP and blank control group (1 1 2.6 ± 1 1 .3)/1 0 HP,with statistically significant differences (t=95.64,P=0.000;t=1 05.1 7,P=0.000).The wound healing assay in siRNA group (28.1 7%±1 .46%)was significantly lower than those in negative group (77.38%±2.24%)and blank control group (79.41%±3.1 7%),with statistically significant (t=85.86,P=0.000;t=89.37,P=0.000).Conclusion Pyk2 gene involves the proliferation,invasion and migration of Hep3B cells,which has close correction with development and metastasis of hepatocellular carcinoma.Pyk2 gene is very helpful to become a molecular target for the diagnosis and treatment of hepatocellular carcinoma.

OBJECTIVE:To establish the quality standard for Tongmai pill. METHODS:TLC was used for the qualitative iden-tification of Salvia miltiorrhiza,Angelica sinensis and Carthamus tinctorius. HPLC was used for the content determination of feru-lic acid. The column was Diamonsil C18 with mobile phase of acetonitrile-0.1% aqueous phosphoric acid (17∶83,V/V) at a flow rate of 1 ml/min,the detection wavelength was 316 nm,the column temperature was 30 ℃,and the injection volume was 10 μl.. RESULTS:The TLC of S. miltiorrhiza,A. sinensis and C. tinctorius showed clear spots and good separation. The linear range of ferulic acid was 8-80 μg/ml(r=0.999 8);RSDs of precision,stability and reproducibility tests were lower than 2%;recovery was 97.2%-99.6%(RSD=1.2%,n=6). CONCLUSIONS:The standard can be used for the quality control of Tongmai pill.

RAG mutations cause a spectrum of severe immunodeficiencies ranging from classical severe combined immunodeficiency( SCID) and Omenn syndrome to an increasing number of peculiar phenotypes. Based on the distinct levels of RAG expression in various patients, their immunophenotypes, histopathological findings and clinical manifestations are diverse. The subtypes of RAG-defect diseases have been described as classical SCID,SCID with maternal T cells,classical Omenn syndrome,atypical Omenn syndrome,granuloma-tous inflammation,predominance/expansion of γδ-T cells and maternal T-cell engraftment. The complete failure or partial blockage of lymphocyte development and differentiation can cause repeated infections with autoimmune reactions frequently,and may be lethal. Thorough assessment and interpretation of various phenotypes will guide accurate diagnosis,definitive treatment and the mechanism research.