Traditional Chinese medicine (TCM) represents a paradigmatic approach to personalized medicine, developed through the systematic accumulation and refinement of clinical empirical data over more than 2000 years, and now encompasses large-scale electronic medical records (EMR) and experimental molecular data. Artificial intelligence (AI) has demonstrated its utility in medicine through the development of various expert systems (e.g., MYCIN) since the 1970s. With the emergence of deep learning and large language models (LLMs), AI's potential in medicine shows considerable promise. Consequently, the integration of AI and TCM from both clinical and scientific perspectives presents a fundamental and promising research direction. This survey provides an insightful overview of TCM AI research, summarizing related research tasks from three perspectives: systems-level biological mechanism elucidation, real-world clinical evidence inference, and personalized clinical decision support. The review highlights representative AI methodologies alongside their applications in both TCM scientific inquiry and clinical practice. To critically assess the current state of the field, this work identifies major challenges and opportunities that constrain the development of robust research capabilities-particularly in the mechanistic understanding of TCM syndromes and herbal formulations, novel drug discovery, and the delivery of high-quality, patient-centered clinical care. The findings underscore that future advancements in AI-driven TCM research will rely on the development of high-quality, large-scale data repositories; the construction of comprehensive and domain-specific knowledge graphs (KGs); deeper insights into the biological mechanisms underpinning clinical efficacy; rigorous causal inference frameworks; and intelligent, personalized decision support systems.
Medicine, Chinese Traditional/methods* ; Artificial Intelligence ; Humans ; Precision Medicine ; Decision Support Systems, Clinical

[This corrects the article DOI: 10.1016/j.apsb.2021.07.024.].

Neuropathic pain is frequently comorbidity with cognitive deficits. Neuralized1 (Neurl1)-mediated ubiquitination of CPEB3 in the hippocampus is critical in learning and memory. However, the role of Neurl1 in the cognitive impairment in neuropathic pain remains elusive. Herein, we found that lumbar 5 spinal nerve ligation (SNL) in male rat-induced neuropathic pain was followed by learning and memory deficits and LTP impairment in the hippocampus. The Neurl1 expression in the hippocampal CA1 was decreased after SNL. And this decrease paralleled the reduction of ubiquitinated-CPEB3 level and reduced production of GluA1 and GluA2. Overexpression of Neurl1 in the CA1 rescued cognitive deficits and LTP impairment, and reversed the reduction of ubiquitinated-CPEB3 level and the decrease of GluA1 and GluA2 production following SNL. Specific knockdown of Neurl1 or CPEB3 in bilateral hippocampal CA1 in naïve rats resulted in cognitive deficits and impairment of synaptic plasticity. The rescued cognitive function and synaptic plasticity by the treatment of overexpression of Neurl1 before SNL were counteracted by the knockdown of CPEB3 in the CA1. Collectively, the above results suggest that the downregulation of Neurl1 through reducing CPEB3 ubiquitination and, in turn, repressing GluA1 and GluA2 production and mediating synaptic plasticity impairment in hippocampal CA1 leads to the genesis of cognitive deficits in neuropathic pain.
Animals ; Male ; Neuralgia/metabolism* ; Rats ; Down-Regulation/physiology* ; Ubiquitination/physiology* ; Neuronal Plasticity/physiology* ; Rats, Sprague-Dawley ; CA1 Region, Hippocampal/metabolism* ; Cognitive Dysfunction/metabolism* ; RNA-Binding Proteins/metabolism* ; Receptors, AMPA/metabolism*

This study aimed to comprehensively examine the association of gallstones, cholecystectomy, and cancer risk. Multivariable logistic regressions were performed to estimate the observational associations of gallstones and cholecystectomy with cancer risk, using data from a nationwide cohort involving 239 799 participants. General and gender-specific two-sample Mendelian randomization (MR) analysis was further conducted to assess the causalities of the observed associations. Observationally, a history of gallstones without cholecystectomy was associated with a high risk of stomach cancer (adjusted odds ratio (aOR)=2.54, 95% confidence interval (CI) 1.50-4.28), liver and bile duct cancer (aOR=2.46, 95% CI 1.17-5.16), kidney cancer (aOR=2.04, 95% CI 1.05-3.94), and bladder cancer (aOR=2.23, 95% CI 1.01-5.13) in the general population, as well as cervical cancer (aOR=1.69, 95% CI 1.12-2.56) in women. Moreover, cholecystectomy was associated with high odds of stomach cancer (aOR=2.41, 95% CI 1.29-4.49), colorectal cancer (aOR=1.83, 95% CI 1.18-2.85), and cancer of liver and bile duct (aOR=2.58, 95% CI 1.11-6.02). MR analysis only supported the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer. This study added evidence to the causal effect of gallstones on stomach, liver and bile duct, kidney, and bladder cancer, highlighting the importance of cancer screening in individuals with gallstones.
Humans ; Mendelian Randomization Analysis ; Gallstones/complications* ; Female ; Male ; Cholecystectomy/statistics & numerical data* ; Middle Aged ; Risk Factors ; Aged ; Adult ; Neoplasms/etiology* ; Stomach Neoplasms/epidemiology*

Glioma is the most common primary malignant tumor of the central nervous system in adults. Despite the standard treatment of surgery combined with radiotherapy and chemotherapy, the prognosis for high-grade glioma patients remains poor, highlighting the urgent need to further explore its pathogenesis and develop new therapeutic strategies. This article reviews the research progress in the field of glioma in China in 2024, covering tumorigenesis mechanisms, tumor immune microenvironment composition, advances in imaging techniques and novel imaging agents, improvements in surgical approaches, mechanisms of radio- and chemoresistance, and explorations of new therapeutic modalities. These studies provide a solid theoretical foundation for advancing clinical diagnosis and treatment of gliomas and may offer new opportunities to improve patient outcomes.

Objective To investigate the relationship between ferroptosis-related genes[heme oxygenase-1(HO-1),solute carrier family 7 member 11(SLC7A11),and long-chain acyl-coenzyme A synthetase 4(ACSL4)]expression and cardiovascular events in patients with chronic renal failure(CRF),aiming to pro-vide clinical insights for risk assessment of cardiovascular complications.Methods A total of 124 CRF pa-tients(CRF group)admitted to the hospital from January 2020 to January 2023 and 124 healthy people(con-trol group)who underwent physical examination in the hospital during the same period were selected as the research objects.The levels of ferroptosis-related gene HO-1,SLC7A11 and ACSL4 were detected and com-pared between the two groups.CRF patients were followed up for 12 months after discharge,and they were di-vided into concurrent group(n=56)and non-concurrent group(n=66)according to the occurrence of cardio-vascular events.Spearman correlation analysis was used to investigate the correlation between iron death relat-ed genes HO-1,SLC7A11,ACSL4 and cardiovascular events in CRF patients.Univariate and multivariate Lo-gistic regression analysis were used to investigate the influencing factors of cardiovascular events in CRF pa-tients.Receiver operating characteristic(ROC)curve was used to analyze the predictive value of iron death re-lated genes HO-1,SLC7A11,and ACSL4 for cardiovascular events in CRF patients.Results Serum HO-1 and SLC7A11 levels in CRF group were lower than those in control group(P＜0.05),and the ACSL4 level was higher than that in control group(P＜0.05).The serum HO-1 and SLC7A11 levels in concurrent group were lower than those in non-concurrent group(all P＜0.05),and the serum ACSL4 level was higher than that in non-concurrent group(P＜0.05).Ferroptosis-related genes HO-1 and SLC7A11 were negatively correlated with cardiovascular events(r=-0.708,—0.721,P＜0.05),while ACSL4 was positively correlated with car-diovascular events(r=0.699,P＜0.05).High serum ACSL4 expression and high cTnT level were risk fac-tors for cardiovascular events in CRF patients(P＜0.05),and high hemoglobin level and high serum HO-1 and SLC7A11 expression were protective factors for cardiovascular events in CRF patients(P＜0.05).ROC curve analysis results showed that the area under the curve(AUC)of serum HO-1,SLC7A11,ACSL4,hemo-globin and cTnT alone for predicting cardiovascular events in CRF patients were 0.787,0.735,0.773,0.651 and 0.782,respectively.The AUC of the combined prediction of ferroptosis-related genes was 0.837,and the AUC of the combined application of five factors was 0.880.According to Delong's test,the AUC of both com-bined application models was significantly higher than those of individual application(P＜0.05).The nomo-gram model showed that all ferroptosis-related genes were positively expressed(HO-1＜1.5,SLC7A11＜1.15,ACSL4≥2.75),and the risk of developing concurrent cardiovascular events in CRF patients could reach over 75％.Conclusion The expression of serum HO-1 and SLC7A11 in CRF patients is decreased,and the ACSL4 expression is increased,which is closely related to cardiovascular events,and the combined detection of three indexes has high value in predicting cardiovascular events in CRF patients.

Objective:To describe the clinical and pathological features of patients with myofasciitis.Methods:The clinical manifestations and auxiliary examination (laboratory, electromyogram, imaging and muscle biopsy) results of 52 patients with myofasciitis diagnosed by pathology at Peking University First Hospital from August 2002 to December 2024 were collected and analyzed.Results:Among the 52 patients (33 males and 19 females), the age of disease onset was (34.4±16.4) years (6.0-73.0 years) and the disease duration was 17.7 (0.3, 120.0) months; the main symptoms included myalgia in the distal limbs (28 cases, 53.8%), diffuse cutaneous or muscle sclerosis (21 cases, 40.4%), muscle weakness (22 cases, 42.3%) and limited joint activity (23 cases, 44.2%); 12 patients (23.1%) were combined with other diseases. All patients had no history of vaccination. Laboratory examinations showed that 80.8% (21/26) of patients had elevated C-reactive protein, 80.0% (20/25) had elevated erythrocyte sedimentation rate, and 26.5% (9/34) had elevated creatine kinase. Among 19 patients undergoing electromyography, 6 cases showed myogenic changes, 4 cases showed neurogenic changes, 1 case showed both myogenic and neurogenic changes, and 8 cases showed no obvious abnormality. Myofascial edema was observed in all 15 patients who underwent muscle magnetic resonance imaging, with partial involvement of adjacent muscles in some cases. According to myopathological changes, the 52 patients were divided into macrophagic myofasciitis in 41 cases (78.8%), lymphocytic myofasciitis in 7 cases (13.5%), and eosinophilic fasciitis in 4 cases (7.7%). Among the 52 patients, fibroblast proliferation in the myofascia was present in 39 cases (75.0%), subfascial muscle fiber atrophy in 28 cases (53.8%), and scattered muscle fiber necrosis and regeneration in 15 cases (28.8%). Major histocompatibility complex class Ⅰexpression on muscle fibers was positive in 89.5% (34/38) of patients, and membrane attack complex deposition on muscle fibers and/or capillary walls was present in 39.5% (15/38) of patients. Among 25 patients with follow-up, all received low-dose oral glucocorticoids, and 7 additionally received methotrexate, intravenous immunoglobulin, or hydroxychloroquine. During follow-up, 22 patients showed clinical improvement, 1 patient remained stable, and 2 patients died.Conclusions:Non-vaccine-associated macrophagic myofasciitis is the most common pathological subtype of myofasciitis. A few patients are concomitant with other diseases. Muscle magnetic resonance imaging is helpful in the diagnosis of the disease. Most patients respond to immunosuppressive treatment.

Clinical data of two patients with X-linked adrenoleukodystrophy (X-ALD) initially presenting as Addison′s disease were collected from the Department of Endocrinology, First Medical Center of Chinese PLA General Hospital. Relevant medical history, clinical features, laboratory tests, and genetic results were analyzed. The two male patients, aged 7 years (case 1) and 15 years (case 2), initially presented with generalized skin hyperpigmentation, without any family history of similar disorders. Both had normal growth and development, and adrenal CT and brain MRI revealed no significant abnormalities. Elevated very long-chain fatty acid (VLCFA) levels were detected. Genetic analyses identified a maternally inherited missense mutation (c.830G>A, p.Gly277Glu) in the ATP-binding cassette subfamily D member 1 (ABCD1) gene in case 1, and a missense mutation (c.1499G>T, p.Gly500Val) in case 2. Protein structural predictions indicated both mutations as potentially damaging or damaging, and both were classified as likely pathogenic according to American College of Medical Genetics and Genomics (ACMG) criteria (PM1/PM2/PP3_Moderate and PM2/PP3_Moderate/PM6, respectively), supporting their correlation with the clinical phenotype. Clinicians should maintain vigilance for X-ALD in male patients presenting with Addison′s disease, and combined VLCFA and genetic testing can effectively prevent misdiagnosis or delayed diagnosis.

Objective:To observe the high-frequency ultrasound characteristics of the median nerve（MN）in patients with acromegaly，and to investigate the clinical value of multiparameter quantitative ultrasound for noninvasive assessment of carpal tunnel syndrome（CTS）in acromegalic patients.Methods:A total of 132 acromegalic patients due to pituitary growth hormone tumors in Huashan Hospital during July 2023 to September 2024 including initial patients and postoperative revisions were prospectivly collected. The patients were divided into no neurological symptoms group（ n=51）and clinical CTS group（ n=81）based on the Boston Carpal Tunnel Questionnaire. All patients underwent bilateral MN ultrasonography，the ultrasound parameters included the cross-sectional area（CSA）of MN at the entrance of carpal tunnel，the maximum CSA of MN in carpal tunnel，the maximum and minimum thickness of MN in carpal tunnel，CSA of MN at forearm 1/3，soft tissue thickness at the wrist，CSA of MN at elbow transverse stripe，blood flow signals within the MN at the carpal tunnel，ratio of the CSA（CSA of MN at the entrance of carpal tunnel/ CSA of MN at forearm 1/3），ratio of thickness（maximum / minimum thickness of MN in carpal tunnel）. Differences in general information，clinical indicators and ultrasound parameters were analyzed between the two groups. The diagnostic model was established with ultrasound parameters and clinical indicators using univariate and multivariate logistic analyses in a training cohort of 106 patients，to predict CTS within acromegaly. And ROC curve was used to evaluate the efficacy of the model in a test cohort of 26 patients with neurophysiological examination data. Results:Patients in clinical CTS group were older，with longer disease duration，higher levels of growth hormone 25-hydroxyvitamin D 3 and insulin-like growth factor-1 and were more likely to have impaired glucose tolerance relative to the no neurologic symptoms group（all P < 0.05）. Comparison between the two groups revealed significant differences in all ultrasound parameters：the CSA at the entrance of the MN carpal tunnel，the 1/3 of the forearm and the elbow were larger than the no neurological symptoms group（all P < 0.001），and the MN thickness ratio was greater observably in the clinical CTS group（ P < 0.001）. Greater thickness of the soft tissue at wrist and more blood flow signals in MN in carpal tunnel were revealed in clinical CTS group patients（ P < 0.001）.Combining the results of multifactorial logistic analysis，the multiparametric ultrasound combined with clinical index diagnosing model based on the predicted disease duration，CSA of MN at the entrance of carpal tunnel，MN thickness ratio and soft tissue thickness at the carpal tunnel was established to diagnose CTS combined with acromegaly. The ROC curve was plotted in the test cohort and the area under the curve for this model was 0.894. Conclusions:High-frequency ultrasound is sensitive to observe MN changes in acromegalic patients and the combination of multiparametric ultrasound and clinical index is useful for the non-invasive diagnosis of acromegalic patients with CTS.

OBJECTIVE: To explore the genetic basis for a girl with primary microcephaly and growth retardation. METHODS: A girl who was admitted to Guangdong Maternal and Child Health Care Hospital in was selected as the study subject. Peripheral blood samples were collected from the child and her parents. Trio whole exome sequencing was carried out, and candidate variants were verified by Sanger sequencing and bioinformatic analysis. This study was approved by the Medical Ethnics Committee of Guangdong Maternal and Child Health Care Hospital (Ethics No. 202201278). RESULTS: DNA sequencing revealed that the child has harbored compound heterozygous variants of the WDR62 gene, including a frameshifting c.2963delC (p.Pro988Argfs*80) variant in exon 24 which was inherited from the unaffected father, and a nonsense c.3163G>T (p.Glu1055*) variant in exon 26, which was inherited from her unaffected mother. Both variants were predicted to affect the reading frame of the WDR62 gene. CONCLUSION Based on the clinical manifestations, results of genetic testing and pedigree analysis, the compound heterozygous variants were predicted to underlay the pathogenesis of microcephaly and growth retardation in this child. Above discovery has expanded the mutational spectrum for WDR62-associated Primary microcephaly type 2, and facilitated genetic counseling for the family.
Female ; Humans ; Cell Cycle Proteins ; Heterozygote ; Microcephaly/genetics* ; Mutation ; Nerve Tissue Proteins/genetics* ; Pedigree