OBJECTIVE: To summarize the clinical features and management of two brothers affected with X-linked inhibitor of apoptosis protein (XIAP) deficiency. METHODS: This study retrospectively analyzed the clinical presentations, treatment, and follow-up of two brothers with XIAP deficiency diagnosed at Shanghai Children's Hospital in 2020, and summarized similar cases recorded in databases such as PubMed, Wanfang, Chinese Medical Association Journals, and WIP from January 2006 to November 2024. This study was approved by the Medical Ethics Committee of our hospital (Ethics No.: 2025R128-E01). RESULTS: Patient 1 was the younger brother, who presented at 8 years of age with growth retardation, folliculitis, erythema nodosum, and perineal abscess. Sequencing revealed that he has carried a hemizygous c.566T>C (p.Leu189Pro) variant of the XIAP gene, which was inherited from his mother. He was allergic to infliximab treatment and underwent allogeneic stem cell transplantation (HSCT) in January 2021. During a follow-up of 3 years and 10 months post-transplantation, he showed no gastrointestinal symptoms and had a good outcome. Patient 2 was the elder brother, who presented at 10 years and 6 months of age with growth retardation, rash, and anal fistula. Genetic testing revealed the same variant. He was treated with oral azathioprine but did not have regular follow-ups. At 14-years-and-6-months of age, he had developed severe gastrointestinal infection and hemophagocytic lymphohistiocytosis, which was alleviated after treatment with antibiotics, glucocorticoids, immunoglobulin, and rituximab. He is currently being prepared for HSCT. A total of 13 publications were retrieved, which involved 64 patients from 23 families, with 23 different variants identified. The main clinical manifestations included splenomegaly (34 cases, 53.1%), hemophagocytic lymphohistiocytosis (27 cases, 42.2%), and inflammatory bowel disease or colitis (20 cases, 31.8%). There were significant phenotypic differences among patients from the same family. Thirteen patients (20.3%) underwent HSCT, with a survival rate of 61.5%. CONCLUSION For male children with early onset, poor treatment response, especially those with unexplained splenomegaly and IBD-like symptoms, early genetic testing is recommended. HSCT is a safe and effective treatment for XIAP deficiency. For patients with developmental delay, early onset, and severe IBD phenotype, early transplantation is recommended.
Humans ; Male ; X-Linked Inhibitor of Apoptosis Protein/deficiency* ; Child ; Genetic Diseases, X-Linked/therapy* ; Phenotype ; Siblings ; Retrospective Studies ; Hematopoietic Stem Cell Transplantation

ObjectiveThe development trend and knowledge structure of the research on human use experience （HUE） of traditional Chinese medicine （TCM） were systematically reviewed， and the core challenges and future directions were identified. This study aims to provide reference for the construction of a scientific and feasible research and development framework and evidence transformation system. MethodsLiterature related to "human use experience" published from January 1， 2019 to July 31， 2025 was retrieved from the China National Knowledge Infrastructure （CNKI）， Wanfang， China Science and Technology Journal Database （VIP）， and PubMed databases. Bibliometric visualization was conducted using Excel， VOSviewer， and CiteSpace， followed by in-depth reading and thematic summarization of core literature. ResultsA total of 181 papers were included for bibliometric analysis， with 45 articles used for in-depth thematic mining. The analysis showed that the number of publications on HUE research has increased in a stepwise manner over the past five years. Yang Zhongqi （24 times） was the core of the author network， the journal with the highest number of publications was China Journal of Chinese Materia Medica， the institutions publishing the most articles were mainly research institutions， regulatory agencies， hospitals， and universities， high-frequency keywords included "new TCM drugs"， "real-world studies"， and "clinical comprehensive evaluation"， keyword clustering analysis formed three major clusters： Policy orientation， application fields， and methodological approaches. Thematic analysis reveals that HUE-based evaluation should be integrated throughout the research and development process， encompassing three dimensions： TCM theory， clinical value， and pharmaceutical fundamentals， with toxic herbs and compatibility contraindications being key foci. Data collection primarily relies on empirical data， while real-world data constitute the primary source for clinical research， with efficacy and safety as the shared core. Data management emphasizes quality control and statistical analysis； however， the management of bias and confounding remains a critical bottleneck in evidence transformation. In practice， HUE-based approaches have successfully supported the registration and evaluation of multiple categories of new TCM drugs. ConclusionThe research on HUE of TCM has formed a policy-driven pattern characterized by， rapid development and close link with regulatory practice. A technical framework covering the whole chain of research and development has been constructed with clinical value as the core， which provides methodological basis and strategy reference for the scientific transformation of HUE of TCM from "experience" to "evidence".

ObjectiveTo analyze the processing mechanism underlying the enhanced effect of invigorating spleen and stopping diarrhea of soil-fried Atractylodis Macrocephalae Rhizoma（AMR） by analyzing the changes of microstructure， chemical composition and anti-ulcerative colitis（UC） activity before and after soil stir-frying. MethodsThe microstructure and elemental composition of AMR before and after soil stir-frying were analyzed by scanning electron microscopy-energy dispersive spectroscopy（SEM-EDS）， to investigate the differences in microstructure and the underlying causes. Ultra-high performance liquid chromatography-quadrupole-time-of-flight mass spectrometry（UPLC-Q-TOF-MS） coupled with UNIFI 1.9.2 natural product analysis platform were used to analyze and identify the chemical constituents in raw and soil-fried products， and multivariate statistical methods including principal component analysis（PCA） and orthogonal partial least squares-discriminant analysis（OPLS-DA） were used to explore the differences and sources of chemical constituents between them. A dextran sulfate sodium（DSS）-induced UC mouse model was established. The method of disease activity index（DAI） was used to evaluate the severity of intestinal inflammation. Hematoxylin-eosin（HE） staining was used to observe the pathological changes of colon tissue， enzyme-linked immunosorbent assay（ELISA） was used to detect the levels of inflammatory factors， Real-time quantitative polymerase chain reaction（Real-time PCR） and Western blot were used to analyze the expressions of key genes and proteins involved in the intestinal mucosal barrier. The 16S rRNA sequencing was used to evaluate the diversity of intestinal flora， headspace gas chromatography-mass spectrometry（HS-GC-MS） was used to explore the levels of short-chain fatty acids（SCFAs） in feces. Base on the above findings， this paper investigated the effects of raw and soil-fried AMR on the biological， chemical， mechanical and immune barriers of model animals， and the differences in pharmacological effects and underlying mechanisms from the perspective of regulating the intestinal mucosal barrier in UC mice. ResultsSEM observation revealed numerous hearth soil particles on the surface of soil-fried AMR， accompanied by bubble-like bulges. At the same time， there were many cracks and folds on the surface of the hearth soil. EDS analysis revealed that the contents of Si， Al， Mg and Ca in soil-fried AMR were significantly higher than those of raw products， and these elements constituted the primary components of hearth soil. UPLC-Q-TOF-MS combined with database comparison was used to identify the chemical constituents of raw and soil-fried AMR. In positive ion mode， a total of 132 components were identified， primarily comprising three categories of terpenoids， polyphenols and amino acids. In negative ion mode， a total of 40 components were identified， primarily polyphenolic and glycoside compounds. Among them， the contents of sesquiterpenes and polyphenolic acids were changed significantly before and after processing. Soil-fried AMR could reduce the DAI score of UC mice， alleviate the shortening of colon length， reduce the levels of pro-inflammatory factors such as interleukin（IL）-17， IL-18， γ-interferon（IFN-γ） and tumor necrosis factor（TNF）-α in serum， increase the levels of anti-inflammatory factors such as secretory immunoglobulin A（sIgA）， IL-10， IL-4 and transforming growth factor-β（TGF-β） in serum， increase the expressions of key genes and proteins of intestinal mucosal barrier such as tight junction protein-1（ZO-1）， Occludin， Claudin-1 and mucin 2（MUC2） in colonic mucosa， and improve the disorders of intestinal flora diversity and the levels of SCFAs（P<0.05， P<0.01）. The raw and stir-fried products of AMR also exhibited the aforementioned effects， but they were weaker than the soil-fried products. Additionally， the auxiliary material hearth soil also had a certain pharmacodynamic effect. ConclusionSoil-fried AMR can enhance the protective effect on intestinal mucosal barrier in UC mice. These changes or heating-induced alterations in the microscopic structure and chemical composition of AMR may be attributed to the dual effects of adsorption of hearth soil.

ObjectiveTo analyze the processing mechanism underlying the enhanced effect of invigorating spleen and stopping diarrhea of soil-fried Atractylodis Macrocephalae Rhizoma（AMR） by analyzing the changes of microstructure， chemical composition and anti-ulcerative colitis（UC） activity before and after soil stir-frying. MethodsThe microstructure and elemental composition of AMR before and after soil stir-frying were analyzed by scanning electron microscopy-energy dispersive spectroscopy（SEM-EDS）， to investigate the differences in microstructure and the underlying causes. Ultra-high performance liquid chromatography-quadrupole-time-of-flight mass spectrometry（UPLC-Q-TOF-MS） coupled with UNIFI 1.9.2 natural product analysis platform were used to analyze and identify the chemical constituents in raw and soil-fried products， and multivariate statistical methods including principal component analysis（PCA） and orthogonal partial least squares-discriminant analysis（OPLS-DA） were used to explore the differences and sources of chemical constituents between them. A dextran sulfate sodium（DSS）-induced UC mouse model was established. The method of disease activity index（DAI） was used to evaluate the severity of intestinal inflammation. Hematoxylin-eosin（HE） staining was used to observe the pathological changes of colon tissue， enzyme-linked immunosorbent assay（ELISA） was used to detect the levels of inflammatory factors， Real-time quantitative polymerase chain reaction（Real-time PCR） and Western blot were used to analyze the expressions of key genes and proteins involved in the intestinal mucosal barrier. The 16S rRNA sequencing was used to evaluate the diversity of intestinal flora， headspace gas chromatography-mass spectrometry（HS-GC-MS） was used to explore the levels of short-chain fatty acids（SCFAs） in feces. Base on the above findings， this paper investigated the effects of raw and soil-fried AMR on the biological， chemical， mechanical and immune barriers of model animals， and the differences in pharmacological effects and underlying mechanisms from the perspective of regulating the intestinal mucosal barrier in UC mice. ResultsSEM observation revealed numerous hearth soil particles on the surface of soil-fried AMR， accompanied by bubble-like bulges. At the same time， there were many cracks and folds on the surface of the hearth soil. EDS analysis revealed that the contents of Si， Al， Mg and Ca in soil-fried AMR were significantly higher than those of raw products， and these elements constituted the primary components of hearth soil. UPLC-Q-TOF-MS combined with database comparison was used to identify the chemical constituents of raw and soil-fried AMR. In positive ion mode， a total of 132 components were identified， primarily comprising three categories of terpenoids， polyphenols and amino acids. In negative ion mode， a total of 40 components were identified， primarily polyphenolic and glycoside compounds. Among them， the contents of sesquiterpenes and polyphenolic acids were changed significantly before and after processing. Soil-fried AMR could reduce the DAI score of UC mice， alleviate the shortening of colon length， reduce the levels of pro-inflammatory factors such as interleukin（IL）-17， IL-18， γ-interferon（IFN-γ） and tumor necrosis factor（TNF）-α in serum， increase the levels of anti-inflammatory factors such as secretory immunoglobulin A（sIgA）， IL-10， IL-4 and transforming growth factor-β（TGF-β） in serum， increase the expressions of key genes and proteins of intestinal mucosal barrier such as tight junction protein-1（ZO-1）， Occludin， Claudin-1 and mucin 2（MUC2） in colonic mucosa， and improve the disorders of intestinal flora diversity and the levels of SCFAs（P<0.05， P<0.01）. The raw and stir-fried products of AMR also exhibited the aforementioned effects， but they were weaker than the soil-fried products. Additionally， the auxiliary material hearth soil also had a certain pharmacodynamic effect. ConclusionSoil-fried AMR can enhance the protective effect on intestinal mucosal barrier in UC mice. These changes or heating-induced alterations in the microscopic structure and chemical composition of AMR may be attributed to the dual effects of adsorption of hearth soil.

Objective To investigate the causal relationship between gut microbiota and idiopathic pulmonary fibrosis (IPF). Methods Genome-wide association studies (GWAS) data of gut microbiota and IPF were obtained from MiBioGen and IEU OpenGWAS, respectively. Instrumental variables were screened by means of significance, linkage disequilibrium, weak instrumental variable screening, and removal of confounding factors (genetics, smoking, host characteristics). Inverse variance weighted (IVW) was used as the main Mendelian randomization (MR) analysis method, and the weighted median, simple mode, MR-Egger, and weighted mode were used to perform MR to reveal the causal effect of gut microbiota and IPF. The Cochrane's Q, leave-one-out, MR-Egger-intercept, and Mendelian randomization pleiotropy residual sum and outlier (MR-PRESSO) and Steiger tests were used to analyze the heterogeneity, horizontal pleiotropy, outliers, and directionality, respectively. Results IVW analysis results showed that Actinobacteria [OR=1.773, 95%CI (1.323, 2.377), P<0.001], Erysipelatoclostridium [OR=2.077, 95%CI (1.107, 3.896), P=0.023], and Streptococcus [OR=1.35, 95%CI (1.100, 1.657), P=0.004] could increase the risk of IPF. Bifidobacterium [OR=0.668, 95%CI (0.620, 0.720), P<0.001], Ruminococcus [OR=0.434, 95%CI (0.222, 0.848), P=0.015], and Tyzzerella [OR=0.479, 95%CI (0.304, 0.755), P=0.001] could reduce the risk of IPF. No significant heterogeneity, horizontal pleiotropy, outliers, and reverse causality were found. Conclusion Actinobacteria, Erysipelatoclostridium and Streptococcus may increase the risk of IPF, while Bifidobacterium, Ruminococcus and Tyzzerella may reduce the risk of IPF. Regulation of the above gut microbiota may become a new direction in the study of the pathogenesis of IPF.

OBJECTIVE To analyze the differences in chemical components of Gardenia jasminoides before and after processing with ginger， and to evaluate the quality differences among different producing areas. METHODS Ultra-high performance liquid chromatography-tandem time-of-flight mass spectrometry was used to analyze the compositional differences of G. jasminoides before and after processing with ginger. The water content， total ash， and ethanol-soluble extract content of ginger- processed G. jasminoides were determined according to the 2020 edition of Chinese Pharmacopoeia. High performance liquid chromatography was adopted to determine the contents of genipin gentiobioside， geniposide， crocin Ⅰ and crocin Ⅱ in ginger- processed G. jasminoides. RESULTS A total of 49 chemical components were identified from raw G. jasminoides and ginger- processed G. jasminoides， including 14 flavonoids， 15 iridoids， 10 organic acids， 2 alkaloids and 8 other compounds. Among them， 42 components were detected in raw G. jasminoides， 28 in ginger-processed G. jasminoides， and 21 components were common to both. After processing with ginger， raw G. jasminoides lost 21 components （including iridoids， flavonoids， alkaloids， and others）， while 7 chemical components were added （including coumarins， organic acids， organic acid esters， and flavonoids）. For the 15 batches of ginger-processed G. jasminoides， the water content ranged from 5.64% to 7.11%， total ash from 2.92% to 4.87%， and ethanol-soluble extract from 40.61% to 58.02%. The average contents of genipin gentiobioside， geniposide， crocin Ⅰ and crocin Ⅱ were 0.108 7， 0.542 2， 0.565 0， and 0.012 5 mg/g， respectively. CONCLUSIONS After processing with ginger， G. jasminoides loses 21 components， while 7 new components are added. Differences are observed in the water content， total ash， ethanol-soluble extract， and the contents of genipin gentiobioside， geniposide， crocin Ⅰ， and crocin Ⅱ of ginger-processed G. jasminoides from different producing areas. Notably， samples from Fujian exhibit high contents of genipin gentiobioside and ethanol-soluble extract， while samples from Jiangxi have a high content of crocin Ⅰ.

Childhood simple obesity has become a significant public health issue in China. Modern medicine primarily relies on lifestyle interventions and often suffers from poor long-term compliance， while pharmacological options are limited and associated with potential adverse effects. Traditional Chinese Medicine （TCM） has a long history in the prevention and management of this condition， demonstrating eight distinct advantages， including systematic theoretical foundation， diversified therapeutic approaches， definite therapeutic efficacy， high safety profile， good patient compliance， comprehensive intervention strategies， emphasis on prevention， and stepwise treatment protocols. Additionally， TCM is characterized by six distinctive features： the use of natural medicinal substances， non-invasive external therapies， integration of medicinal dietetics， simple exercise regimens， precise syndrome differentiation， and diverse dosage forms. By combining internal and external treatments， TCM facilitates individualized regimen adjustment and holistic regulation， demonstrating remarkable effects in improving obesity-related metabolic indicators， regulating constitutional imbalance， and promoting healthy behaviors. However， challenges remain， such as inconsistent operational standards， insufficient high-quality clinical evidence， and a gap between basic research and clinical application. Future efforts should focus on accelerating the standardization of TCM diagnosis and treatment， conducting multicenter randomized controlled trials， and fostering interdisciplinary integration， so as to enhance the scientific validity and international recognition of TCM in the prevention and treatment of childhood obesity.

ObjectiveThis study explored the risk factors for malignant risks of pulmonary nodules based on clinical data，constructed an integrated traditional Chinese and Western medicine model for predicting malignant risks of pulmonary nodules， and visualized the prediction results by using a nomogram. MethodsBased on a cross-sectional survey study design，patients with pulmonary nodules who were hospitalized in the Department of Respiratory and Cardiothoracic Surgery of Guangdong Provincial Hospital of Traditional Chinese Medicine from April 2023 to January 2024 were included. The dataset was randomly divided into a training set and a validation set according to 7∶3. In the training set，predictive factors were selected through univariate Logistic regression analysis and Least Absolute Shrinkage and Selection Operator （LASSO） regression analysis，and Logistic regression models were built. The discriminative ability，calibration，and clinical decision-making curves of the Western medicine model and the integrated traditional Chinese and Western medicine prediction model were compared to select the optimal model，which was then visualized in a nomogram. ResultsThis study included a total of 366 patients，and they were divided into a training set （258 cases） and a validation set （108 cases）. Seven predictive factors were considered including age，preference for fatty and greasy foods，history of environmental or occupational exposure，Qi deficiency，Yang deficiency，nodule density，and nodule diameter. A Logistic regression model was constructed. A Western medicine model，defined as model1，was created using only age，history of environmental or occupational exposure，nodule density，and nodule diameter as predictive factors. In addition，an integrated traditional Chinese and Western medicine model，defined as model2，was created by adding preference for fatty and greasy foods， Qi deficiency，and Yang deficiency as predictive factors. Model2 demonstrated better predictive performance in both the training and validation sets. Its accuracy in training set was 0.740，with precision of 0.825， recall of 0.829， F1 score of 0.827， the area under the curve （AUC）of 0.865 （95% confidence interval （CI）：0.815-0.915）， and a Brier score of 0.122. The accuracy in validation set was 0.731， with precision of 0.776， recall of 0.831， F1 score of 0.803， AUC of 0.852 （95%CI：0.776-0.927）， and a Brier score of 0.149. The calibration curve and decision-making curve analysis showed that this model exhibited good consistency and clinical utility in prediction. The equation for the malignant probability of pulmonary nodules was defined as p=eY/(1+eY)，where Y=-4.187+0.022×（age）+1.079×（history of environmental or occupational exposure）+0.718×（preference for fatty and greasy foods）+ 1.403×（Qi deficiency）+0.732×（Yang deficiency）+0.349×（pure ground glass density nodules）+1.304×（partially solid density nodules）+0.148×（nodule diameter）. A nomogram was used for intuitive representation. ConclusionThis study develops a comprehensive assessment model for the malignant risk of pulmonary nodules， which integrates factors from traditional Chinese medicine and Western medicine. Embedding traditional Chinese medicine elements in the prediction model allows for a multidimensional assessment of relevant risk factors for nodule malignancy. This demonstrates good diagnostic performance and provides a reference for early identification of lung cancer.

A retrospective analysis of clinical data of 8 patients with PICALM::MLLT10 (P/M) fusion gene-positive acute myeloid leukemia (AML) diagnosed by transcriptome sequencing (RNA-seq) at the First Affiliated Hospital of Soochow University from June 2017 to March 2023 was performed. Laboratory findings and treatment status were analyzed, and survival analysis was performed using the Kaplan-Meier method. The 8 patients included 5 males and 3 females, aged 16-35 years, with a median age of 27 years. The platelet count of patients was normal, and 3 patients had mild to moderate anemia. Extramedullary infiltration was present in all patients with clinical manifestations, including 5 patients with mediastinal masses, 2 patients with hepatosplenomegaly, 1 patient with central nervous system leukemia, and 1 patient with cervical lymph node enlargement. Karyotypical analysis revealed 7 patients with an abnormal karyotype, including 6 cases of complex karyotypes. Of these, 4 patients harbored the t(10;11) translocation. The complete remission rate of induction chemotherapy in the patients was 7/8, and 2 patients experienced early recurrence. All patients subsequently underwent allogeneic hematopoietic stem cell transplantation (allo-HSCT), The follow-up period ranged from 86 to 812 days, with a median of 330 days. Among the 8 patients, 3 survived and 5 died due to recurrence. Relapse and death only occurred in the P/M fusion gene-positive patients after transplantation. The overall survival rate at 1 year after transplantation was 37.5%. P/M +AML has the characteristics of young age at onset, normal platelet count, high incidence of extramedullary infiltration, and high proportion of complex karyotype. RNA-seq can significantly improve the detection rate of this disease type. Allo-HSCT can partially improve the prognosis of P/M +AML, and P/M positivity after transplantation can be a warning sign of recurrence, which is an important factor affecting survival.

Objective:To investigate the risk factors and prognosis of postoperative atrial fibrillation(POAF) and delayed-onset POAF(dPOAF).Methods:In a retrospective cohort study involving consecutive patients who underwent cardiac surgery across provincial cardiovascular consortium consisted of 57 hospitals in Jiangsu Province from January 2015 to December 2022, the incidence and implications of dPOAF were examined. dPOAF was defined as being diagnosed within 30 days of discharge.Results:Among 2 788 patients with postoperative new-onset POAF, 154(5.5%)cases had dPOAF, median onset time 21(15, 26)days following surgery. Compared to in-patient diagnosed POAF, dPOAF was associated with increased rates of hypertension(28.6% vs. 9.0%, P<0.001), diabetes(10.4% vs. 3.2%, P<0.001), heart failure(39.6% vs. 19.3%, P<0.001), peripheral vascular disease(13.6% vs. 2.2%, P<0.001), and higher CHA2DS2-VASc score(≥2)(59.8% vs. 43.2%, P<0.001). Female patients were less likely to develop dPOAF( OR=0.44, 95% CI: 0.30-0.63, P<0.001). During follow-up period, there was no significant difference in major adverse cardiovascular events(MACEs)( HR=1.33, 95% CI: 0.82-2.17), overall mortality( HR=0.58, 95% CI: 0.07-4.67), or thromboembolism events( HR=0.57, 95% CI: 0.26-1.25). Conclusion:This study underscores the risk factors and prognosis associated with dPOAF compared to in-hospital POAF. It highlights the imperative for vigilant monitoring and individualized management strategies tailored to patients at risk of dPOAF.