ObjectiveTo systematically evaluate the methodological quality and measurement properties of traditional Chinese medicine （TCM） syndrome efficacy evaluation scales， and to provide evidence-based references for selecting high-quality assessment tools in TCM clinical practice. MethodsChina National Knowledge Infrastructure （CNKI）， Wanfang Data， VIP Database， Chinese Biomedical Literature Database （CBM）， PubMed， the Cochrane Library， Embase， and Web of Science were searched from inception to April 2， 2025， for studies evaluating the measurement properties of TCM syndrome efficacy evaluation scales. Data were extracted， and the methodological quality and measurement properties of the included scales were assessed according to the consensus-based standards for the selection of health measurement instruments （COSMIN）. Recommendation levels were formulated based on the grading of evidence. ResultsA total of 46 studies were included， involving 22 generic syndrome efficacy evaluation scales and 24 disease-specific syndrome efficacy evaluation scales. None of the scales reported cross-cultural validity or measurement error. According to the recommendation grades， 2 scales met Grade A recommendations and are suggested for clinical use； 38 scales were classified as Grade B， indicating potential applicability but requiring further validation； and 6 scales were classified as Grade C， suggesting the need for further refinement. ConclusionExisting TCM syndrome efficacy evaluation scales exhibit substantial variability in methodological quality， incomplete reporting of measurement properties， and insufficient attention to scale revision. Future efforts should emphasize standardized design in the development of TCM syndrome scales， strengthen validation procedures for key measurement properties， and prioritize dynamic revision of scales， thereby providing high-quality tools to support the precise evaluation of syndrome efficacy.

Objective: To explore the association between the HLA antibody positivity rate in female blood donors and pregnancy history, number of pregnancies, interval from the last pregnancy to blood donation, and age, to identify associated variables using a univariate generalized additive model (GAM), and to further analyze the predictive role of characteristic variables for HLA antibody positivity using a random forest model. Methods: HLA antibody detection was performed on 391 female blood donors using the Luminex immunomagnetic bead method. The correlation between pregnancy-related factors and HLA antibodies was analyzed using the Chi-square test. Based on R software, a univariate GAM was first constructed to analyze the association types between characteristic variables and the HLA antibody positivity rate, followed by the construction of a random forest model to evaluate the predictive value of the variables. Results: Among the 391 female blood donors without a transfusion history, the overall HLA antibody positivity rate was 26.34%. The positivity rate in donors with a pregnancy history was significantly higher than that in those without (30.09% vs 9.72%, P<0.05), and HLA antibody positivity rate increased linearly with the number of pregnancies (P<0.05). In the univariate GAM, age and number of deliveries exhibited a non-linear association with the HLA antibody positivity rate (the positivity rate increased sharply between 25-35 years of age and stabilized after 3 deliveries). Besides, the interval from the last pregnancy to blood donation showed a linear association with the HLA antibody positivity rate, and the positivity rate decreased as the interval prolonged (P<0.05). In the random forest model, age (mean decrease gini=29.26) and interval from the last pregnancy to blood donation (mean decrease gini=22.02) were core predictive variables: age was more conducive to identifying positive samples, while the interval from the last pregnancy to blood donation was more helpful for excluding negative samples. The number of deliveries (mean decrease accuracy=16.98) made a significant contribution to predicting positive samples, whereas the number of abortions had no impact. The model had an AUC of 0.583 (95% CI: 0.593 8-0.770 2), indicating a certain predictive value. Conclusion: The associated variables identified by the univariate GAM model, including age, interval from the last pregnancy to blood donation, and number of deliveries, provide a basis for key variables in the random forest model. All three variables have predictive value for HLA antibody positivity, which can provide evidence-based support for personalized transfusion management and stratified screening of female blood donors in this region.

OBJECTIVE: To explore the genetic etiology of 46 Chinese pedigrees affected with Hereditary multiple exostoses (HME) and provide genetic counseling and reproductive intervention. METHODS: Whole-exome sequencing and Sanger sequencing were carried out on 87 patients from the 46 pedigrees to analyze the variants of EXT1 and EXT2 genes. Pathogenicity of the variants was assessed based on the guidelines from the American College of Medical Genetics and Genomics and Association for Molecular Pathology (ACMG/AMP). Prenatal diagnosis and preimplantation genetic testing (PGT) were provided for couples with identified pathogenic mutations. This study was approved by the Medical Ethics Committee of the hospital (Ethics No.: LL-SC-SG-2014-010). RESULTS: In total 17 and 22 pathogenic variants were respectively identified in the EXT1 and EXT2 genes, among which 5 EXT1 and 12 EXT2 variants were unreported previously. Three patients with no family history were found to harbor de novo variants of the EXT1 gene. Twenty nine couples had opted for PGT or underwent prenatal diagnosis following natural conception, and 17 healthy babies were born. CONCLUSION This study has clarified the genetic etiology of 45 HME pedigrees and identified 17 novel variants, which has enriched the mutational spectrum of the EXT1 and EXT2 genes. Reproductive intervention through PGT and prenatal diagnosis have prevented the recurrence of HME in these families.
Humans ; Female ; Male ; Pedigree ; Exostoses, Multiple Hereditary/diagnosis* ; N-Acetylglucosaminyltransferases/genetics* ; Adult ; Exostosin 1 ; Asian People/genetics* ; Genetic Testing ; Exostosin 2 ; Mutation ; China ; Prenatal Diagnosis ; Pregnancy ; Genetic Counseling ; Preimplantation Diagnosis ; Exome Sequencing ; East Asian People

ObjectiveTo investigate the effect and underlying mechanism of the Wulao Qisun prescription on pathological new bone formation in ankylosing spondylitis （AS）. MethodsSynovial fibroblasts were isolated from the hip joints of AS patients and observed under a microscope to assess cell morphology. The cells were identified using immunofluorescence staining. The isolated AS fibroblasts were divided into blank group， low drug-containing serum group， medium drug-containing serum group， high drug-containing serum group， and positive drug group. After drug intervention， cell proliferation was measured using the cell counting kit-8 （CCK-8） assay to observe fibroblast growth and determine the optimal intervention time. Alkaline phosphatase （ALP） activity was measured using the alkaline phosphatase assay. Protein expression of osteocalcin （OCN）， osteopontin （OPN）， and runt-related transcription factor 2 （Runx2） was detected by Western blot. The mRNA expression levels of Wnt5a， β-catenin， and Dickkopf-1 （DKK-1） were measured by real-time quantitative polymerase chain reaction （Real-time PCR）. ResultsCompared with the blank group， each drug-containing serum group of Wulao Qisun prescription and the positive drug group inhibited the proliferation of AS fibroblasts and reduced ALP expression （P<0.01）. Compared with the blank group， the low drug-containing serum group of Wulao Qisun prescription downregulated β-catenin mRNA expression （P<0.05）. The medium and high drug-containing serum groups and the positive drug group significantly downregulated Wnt5a and β-catenin mRNA expression （P<0.05， P<0.01）， with the positive drug group showing the most pronounced effect （P<0.01）. The high drug-containing serum group and the positive drug group significantly upregulated DKK-1 mRNA expression （P<0.01）. Compared with the blank group， the low drug-containing serum group of Wulao Qisun prescription inhibited the expression of OPN and Runx2 proteins （P<0.05， P<0.01）， while the medium and high drug-containing serum groups and the positive drug group inhibited the expression of OCN， OPN， and Runx2 proteins （P<0.05， P<0.01）. ConclusionThe Wulao Qisun prescription can inhibit the proliferation and osteogenic differentiation of AS fibroblasts， thereby delaying the formation of pathological new bone in AS. The possible mechanism involves the regulation of Wnt/β-catenin-related gene expression， further inhibiting the transcription of downstream target genes.

Objective To analyze the changes and clinical significance of aqueous humor stromal cell-de-rived factor-1(SDF-1),macrophage chemoattractant protein-1(MCP-1)and soluble adhesion molecule CD44(sCD44)in patients with diabetic cataract(DC).Methods A total of 80 patients with DC admitted to the hos-pital from January 2021 to January 2023 were selected as the DC group,and 40 patients with simple cataract during the same period were selected as the age-related cataract group.According to the stage of cataract,DC patients were divided into group A(incipient stage,32 cases),group B(intumescent stage,26 cases)and group C(mature stage and over mature stage,22 cases).According to the presence or absence of macular ede-ma after treatment,the patients were divided into occurrence group(20 cases)and non-occurrence group(60 cases).The levels of SDF-1,MCP-1 and sCD44 in each group were detected by enzyme-linked immunosorbent assay.The receiver operating characteristic curve and area under the curve(AUC)were used to analyze the value of SDF-1,MCP-1 and sCD44 levels in the diagnosis of DC.Results The levels of SDF-1,MCP-1 and sCD44 in the DC group were higher than those in the age-related cataract group(P<0.05),and the levels of SDF-1,MCP-1 and sCD44 in the A,B and C groups increased sequentially(P<0.05).The level of MCP-1 in the occurrence group was higher than that in the non-occurrence group(P<0.05).The AUC of MCP-1,sCD44 and SDF-1 in the diagnosis of DC was 0.869,and the diagnostic efficiency was better.Conclusion The changes of aqueous SDF-1,MCP-1 and sCD44 levels are related to the stage of cataract in DC patients.Dynam-ic monitoring of these three indexes,especially MCP-1,is helpful to judge the condition and prognosis of DC patients.

Objective To investigate the clinical efficacy of Pinggan Capsules(composed of six Chinese herbs,i.e.Gentianae Radix et Rhizoma,Prunellae Spica,Rehmanniae Radix,Gastrodiae Rhizoma,Gardeniae Fructus and Plantaginis Herba)in treating patients with hypertension complicated with anxiety and depression of liver-yang hyperactivity type,and to explore the related influencing factors of efficacy.Methods A total of 150 patients diagnosed as hypertension complicated with anxiety and depression of liver-yang hyperactivity type treated at Guangdong Second Traditional Chinese Medicine Hospital from January 2022 to January 2023 were enrolled.The patients were randomly divided into the trial group and the control group using a random number table,with 75 cases in each group.The control group received conventional medicine treatment(Amlodipine Besylate Tablets plus Losartan Potassium Tablets),while the trial group received Pinggan Capsules in addition to the conventional treatment.The treatment for the two groups lasted for 8 weeks.Before and after treatment,the changes in blood pressure,Self-Rating Anxiety Scale(SAS)scores,Self-Rating Depression Scale(SDS)scores,and scores of each domain of World Health Organization Quality of Life-BREF(WHO-QOL-BREF)were observed in the two groups.Antihypertensive efficacy,TCM syndrome efficacy,and drug safety in the two groups were evaluated,and the main factors influencing the efficacy of Pinggan Capsules were analyzed.Results(1)During the treatment period,6 cases dropped out from the trial group and 4 cases dropped out from the control group.A total of 140 patients completed the full course of treatment,including 69 in the trial group and 71 in the control group.(2)After 8 weeks of treatment,the total effective rate for antihypertensive efficacy in the trial group was 89.86%(62/69),significantly higher than that in the control group[64.79%(46/71)].The intergroup(tested by chi-square test)showed that the antihypertensive efficacy of the trial group was significantly superior to that of the control group(P＜0.05).(3)After 8 weeks of treatment,the total effective rate for TCM syndrome efficacy in the trial group was 92.75%(64/69),significantly higher than that in the control group[66.20%(47/71)].The intergroup(tested by chi-square test)showed that the TCM syndrome efficacy of the trial group was significantly superior to that of the control group(P＜0.05).(4)After treatment,systolic blood pressure and diastolic blood pressure were improved in both groups compared to those before treatment(P＜0.05),and the improvement in the trial group was significantly superior to that in the control group(P＜0.05).(5)After treatment,the scores of all domains(physical,psychological,social relationships,and environmental)of WHO-QOL-BREF scale were significantly improved in both groups compared to those before treatment(P＜0.05),and the improvement in the trial group was significantly superior to in the control group(P＜0.05).(6)After treatment,SAS and SDS scores were significantly improved in both groups compared to those before treatment(P＜0.05),and the improvement in the trial group was significantly superior to that in the control group(P＜0.05).(7)No significant adverse reactions occurred in either group during the treatment period,indicating high safety.(8)Sankey diagram and correspondence analysis showed that patients aged＜65 years,male,grade 1 hypertension,mild anxiety,and mild depression achieved significant hypotensive effect and symptom-relief effect(P＜0.05).Conclusion Pinggan Capsules have significant clinical efficacy in treating hypertension complicated with anxiety and depression of liver-yang hyperactivity type and is worthy of clinical promotion and application.

Objective To explore the diagnostic value of exhaled volatile organic compounds (VOCs) for cystic fibrosis (CF). Methods A systematic search was conducted in PubMed, EMbase, Web of Science, Cochrane Library, CNKI, Wanfang, VIP, and SinoMed databases up to August 7, 2024. Studies that met the inclusion criteria were selected for data extraction and quality assessment. The quality of included studies was assessed by the Newcastle-Ottawa Scale (NOS), and the risk of bias and applicability of included prediction model studies were assessed by the prediction model risk of bias assessment tool (PROBAST). Results A total of 10 studies were included, among which 5 studies only identified specific exhaled VOCs in CF patients, and another 5 developed 7 CF risk prediction models based on the identification of VOCs in CF. The included studies reported a total of 75 exhaled VOCs, most of which belonged to the categories of acylcarnitines, aldehydes, acids, and esters. Most models (n=6, 85.7%) only included exhaled VOCs as predictive factors, and only one model included factors other than VOCs, including forced expiratory flow at 75% of forced vital capacity (FEF75) and modified Medical Research Council scale for the assessment of dyspnea (mMRC). The accuracy of the models ranged from 77% to 100%, and the area under the receiver operating characteristic curve ranged from 0.771 to 0.988. None of the included studies provided information on the calibration of the models. The results of the Prediction Model Risk of Bias Assessment Tool (PROBAST) showed that the overall bias risk of all predictive model studies was high, and the overall applicability was unclear. Conclusion The exhaled VOCs reported in the included studies showed significant heterogeneity, and more research is needed to explore specific compounds for CF. In addition, risk prediction models based on exhaled VOCs have certain value in the diagnosis of CF, but the overall bias risk is relatively high and needs further optimization from aspects such as model construction and validation.

Da Qinjiaotang is the 54^th formula of the 100 formulas in the Catalogue of Ancient Classical Formulas （the first batch） ，and it originated from the Collection of Writings on the Mechanism of Disease， Suitability of Qi， and Safeguarding of Life Discussed in Plain Questions. Da Qinjiaotang is composed of Gentiana macrophylla， Glycyrrhizae Radix et Rhizoma， Ligusticum chuanxiong， Angelica sinensis， Paeonia lactiflora， Asari Radix et Rhizoma， Notopterygium incisum， Saposhnikoviae Radix， Scutellariae Radix， Gypsum， Angelica dahurica， Atractylodis Macrocephalae Rhizoma， Rehmanniae Radix， Rehmanniae Radix Praeparata， Poria， and Angelicae Pubescentis Radix. It is a classical formula for treating strokes. Da Qinjiaotang is widely used in modern clinical practices for treating ischemic stroke， peripheral facial paralysis， cervical spondylosis， rheumatic arthritis， neurodermatitis， and other multisystem diseases. Therefore， following the Principles of Textual Research on the Key Information of Ancient Classical Famous Formulas， the authors collected the ancient Chinese medical literature of Da Qinjiaotang by the method of bibliometrics and screened out 177 valid data， involving 100 ancient books of traditional Chinese medicine. Based on the historical evolution， composition， dosage， method of preparation， and preparation of the original medicinal materials of Da Qinjiaotang， a systematic study was carried out. It was found that among the 175 records of the main diseases and syndromes， stroke （144） was the most， accounting for 82.29% of the total diseases and syndromes. Later generations mostly followed the practice of LIU Wansu in using Da Qinjiaotang to treat stroke caused by "weak blood and inability to nourish tendon"， featuring "hands and feet cannot move， stiff tongue hinders speaking"， as well as other symptoms， such as slant of the mouth， hemiplegia， numbness of the limbs， paroxysmal pain， and acerbic syncope. The treatment scope was expanded， covering tendon dryness， clonic convulsion， spasm syndrome， and arthralgia syndrome. At the same time， it was found that there was a controversy between "internal wind" and "external wind" in the treatment of stroke by Da Qinjiaotang. LIU Wansu thought that stroke was caused by internal factors， created the theory of "hot stroke"， and used Da Qinjiaotang to treat "internal wind". Many doctors in later generations focused on treating the "external wind" of "internal deficiency and evil". There were 76 valid data on the composition of drugs， 59 of which had doses for each drug. It was suggested to use the modern conversion dosage of the original formula， with 41.30 g per dose. The drug should be boiled in 600 mL water until 300 mL， decocted once， and taken in a warm state after removing the dregs anytime. Through the analysis and study of the ancient books about Da Qinjiaotang， the paper clarified its historical evolution and confirmed its key information， so as to provide the ancient literature evidence for the research and development of the classical famous formula Daqinjiaotan and its better clinical application.

Da Qinjiaotang is the 54^th formula of the 100 formulas in the Catalogue of Ancient Classical Formulas （the first batch） ，and it originated from the Collection of Writings on the Mechanism of Disease， Suitability of Qi， and Safeguarding of Life Discussed in Plain Questions. Da Qinjiaotang is composed of Gentiana macrophylla， Glycyrrhizae Radix et Rhizoma， Ligusticum chuanxiong， Angelica sinensis， Paeonia lactiflora， Asari Radix et Rhizoma， Notopterygium incisum， Saposhnikoviae Radix， Scutellariae Radix， Gypsum， Angelica dahurica， Atractylodis Macrocephalae Rhizoma， Rehmanniae Radix， Rehmanniae Radix Praeparata， Poria， and Angelicae Pubescentis Radix. It is a classical formula for treating strokes. Da Qinjiaotang is widely used in modern clinical practices for treating ischemic stroke， peripheral facial paralysis， cervical spondylosis， rheumatic arthritis， neurodermatitis， and other multisystem diseases. Therefore， following the Principles of Textual Research on the Key Information of Ancient Classical Famous Formulas， the authors collected the ancient Chinese medical literature of Da Qinjiaotang by the method of bibliometrics and screened out 177 valid data， involving 100 ancient books of traditional Chinese medicine. Based on the historical evolution， composition， dosage， method of preparation， and preparation of the original medicinal materials of Da Qinjiaotang， a systematic study was carried out. It was found that among the 175 records of the main diseases and syndromes， stroke （144） was the most， accounting for 82.29% of the total diseases and syndromes. Later generations mostly followed the practice of LIU Wansu in using Da Qinjiaotang to treat stroke caused by "weak blood and inability to nourish tendon"， featuring "hands and feet cannot move， stiff tongue hinders speaking"， as well as other symptoms， such as slant of the mouth， hemiplegia， numbness of the limbs， paroxysmal pain， and acerbic syncope. The treatment scope was expanded， covering tendon dryness， clonic convulsion， spasm syndrome， and arthralgia syndrome. At the same time， it was found that there was a controversy between "internal wind" and "external wind" in the treatment of stroke by Da Qinjiaotang. LIU Wansu thought that stroke was caused by internal factors， created the theory of "hot stroke"， and used Da Qinjiaotang to treat "internal wind". Many doctors in later generations focused on treating the "external wind" of "internal deficiency and evil". There were 76 valid data on the composition of drugs， 59 of which had doses for each drug. It was suggested to use the modern conversion dosage of the original formula， with 41.30 g per dose. The drug should be boiled in 600 mL water until 300 mL， decocted once， and taken in a warm state after removing the dregs anytime. Through the analysis and study of the ancient books about Da Qinjiaotang， the paper clarified its historical evolution and confirmed its key information， so as to provide the ancient literature evidence for the research and development of the classical famous formula Daqinjiaotan and its better clinical application.