OBJECTIVE: To explore the clinical and genetic features of a child with Pontocerebellar hypoplasia type 2B (PCH2B) due to compound heterozygous variants of the TSEN2 gene. METHODS: A PCH2B patient presented at Department of Pediatric Neurology, Xiangya Hospital of Central South University in June 2023 was selected as the study subject. Clinical data of the patient were retrospectively analyzed. The patient and her parents were subjected to whole exome sequencing and bioinformatic analysis. Pathogenicity of the candidate variants were classified based on the guidelines from the American College of Medical Genetics and Genomics (ACMG). A literature review was also conducted by searching the China National Knowledge Infrastructure (CNKI), Wanfang Data, and PubMed databases from their establishment to May 2025 using keywords "TSEN2 gene" "PCH2B" and "Pontocerebellar Hypoplasia 2B" to summarize the clinical and genotypic features of patients with PCH2B due to variants of the TSEN2 gene. This study was approved by the Medical Ethics Committee of the Hospital (No.: #202310892). RESULTS: The patient, a 6-year-5-month-old girl, had exhibited severe global developmental delay, developmental regression, autism spectrum disorder, myoclonus of eyelids, feeding difficulty, irritability, progressive microcephaly, esotropia, and hypotonia. MRI showed reduced volume of bilateral cerebellar hemispheres and vermis. Genetic testing revealed that she has harbored compound heterozygous variants of the TSEN2 gene (NM_025265.4), namely c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile), which were inherited from her father and mother, respectively. Both variants were classified as likely pathogenic based on the ACMG guidelines and were previously unreported. Literature review has identified six PCH2B patients with missense, nonsense, frameshift, and splice site variants of the TSEN2 gene. Their main clinical manifestations included global developmental delay, progressive microcephaly, feeding difficulties, irritability, and vermis hypoplasia. Cranial MRI and genetic testing are crucial for definite diagnosis. CONCLUSION The c.1054A>T (p.Lys352*) and c.899G>T (p.Ser300Ile) compound heterozygous variants of the TSEN2 gene probably underlay the pathogenesis in this patient. Above findings has expanded the genotypic and phenotypic spectra of TSEN2-related PCH2B, and offered guidance for genetic counseling for this family.
Child ; Female ; Humans ; Cerebellar Diseases/genetics* ; Exome Sequencing ; Heterozygote ; Mutation

ObjectiveThis study aimed to establish a monocrotaline （MCT）-induced pulmonary arterial hypertension （PAH） rat model to systematically evaluate the protective effect of Xiao Qinglongtang （XQLT） on right cardiac function in model rats and further elucidate the underlying regulatory mechanism. MethodsSixty male SD rats were randomly assigned to the normal group， model group， XQLT low-， medium-， and high-dose groups （XQLT-L/M/H）， and the beraprost sodium tablet group （BST）. Except for the normal group， rats in all other groups were given a single subcutaneous injection of MCT （60 mg·kg^-1） to induce PAH. Three weeks after injection， rats in the XQLT-L/M/H groups were administered XQLT intragastrically at 3.07， 6.14， 12.28 g·kg^-1·d^-1， respectively. Rats in the BST group received beraprost sodium at 12.6 μg·kg^-1·d^-1， and rats in the model group received an equal volume of saline. All treatments lasted for 3 weeks. Right ventricular systolic pressure （RVSP） was measured by right ventricular catheterization. Cardiac function was assessed by echocardiography. The right ventricle was weighed to calculate the right ventricular hypertrophy index （RVHI）. Hematoxylin-eosin （HE） staining， Masson staining， and transmission electron microscopy were used to observe myocardial morphology. Serum metabolomic changes were analyzed using ultra-performance liquid chromatography-tandem mass spectrometry （UPLC-MS/MS）. Data-independent acquisition （DIA） proteomics was used to detect differentially expressed （DE） proteins in the right ventricle， and Western blot was used to measure the expression of uncoupling protein 3 （UCP3）， phosphatidylinositol 3-kinase catalytic subunit p110α （PIK3CA）， L1 cell adhesion molecule （L1CAM）， and quinone oxidoreductase （CRYZ）. UPLC-MS/MS was used to analyze the chemical components of XQLT. ResultsCompared with the normal group， the model group showed significantly increased RVSP and RVHI （P<0.05）， along with pathological changes in myocardial morphology. Compared with the model group， all XQLT-treated groups exhibited reductions in RVSP and RVHI as well as significant improvements in cardiac function and myocardial morphology. Among the XQLT groups， XQLT-M showed the most pronounced effects （P<0.05）， comparable to the BST group. Serum metabolomics revealed 105 differential metabolites in the XQLT groups versus the model group ［variable importance in projection （VIP） >1， P<0.05］， including 58 upregulated and 47 downregulated metabolites. KEGG enrichment analysis indicated that XQLT intervention downregulated phenylalanine metabolism （P<0.01） and upregulated unsaturated fatty acid biosynthesis （P<0.05）. Proteomics analysis showed that 982 DE proteins were identified in the MCT groups versus the normal group， including 455 upregulated and 527 downregulated proteins （|fold change （FC）| >1.3， P<0.05）. Compared with the model group， 237 DE proteins were identified in the XQLT groups， including 124 upregulated and 113 downregulated proteins （|FC| >1.3， P<0.05）， with 57 overlapping DE proteins. KEGG enrichment suggested that XQLT mainly modulated pathways related to mineral absorption， ribosomal biogenesis， peroxisomes， glycolysis/gluconeogenesis， spliceosomes， and thyroid hormone signaling. Western blot analysis showed that， compared with the model group， XQLT increased the expression of UCP3， PIK3CA， and L1CAM， while decreasing the expression of CRYZ （P<0.05）. ConclusionXQLT exerts a protective effect on right heart function in MCT-induced PAH rats， and its mechanism is associated with maintaining myocardial homeostasis and alleviating right ventricular remodeling.

ObjectiveTo observe the clinical efficacy and safety of Yuyin Lidan granules （YYLD） in preventing the recurrence of common bile duct stones （CBDS） in patients with liver and gallbladder dampness-heat syndrome following endoscopic retrograde cholangiopancreatography （ERCP）. MethodsThis randomized， parallel， controlled trial enrolled postoperative CBDS-ERCP patients who met the inclusion and exclusion criteria. Sixty-four patients were randomly assigned to an observation group or a control group， with 32 cases in each. Both groups received conventional Western medical treatment after ERCP， while the observation group additionally received YYLD for 8 weeks. The follow-up period lasted for 1 year. The efficacy indicators included bile bilirubin levels， traditional Chinese medicine （TCM） syndrome scores， clinical efficacy rate， pancreatitis and inflammation markers， postoperative liver function， and CBDS recurrence rate at 1-year follow-up， which were used to jointly evaluate the clinical efficacy and safety of both groups. ResultsA total of 56 patients completed the study and were included in the final analysis， i.e.， 29 in the observation group and 27 in the control group. Baseline characteristics were comparable between the two groups. Compared with pre-treatment and with the control group after treatment， the bile bilirubin level in the observation group significantly decreased （P<0.05）. After treatment， the clinical cure and marked improvement rates were higher in the observation group than in the control group， showing a statistically significant difference in overall clinical efficacy （P<0.05）. Compared with pre-treatment， the primary and secondary symptoms in the observation group， as well as the primary symptom and the secondary symptom of nausea and vomiting in the control group （weeks 4 and 8）， were significantly reduced （P<0.05）. Compared with the control group after treatment， the observation group showed significant reductions in the primary symptom of loose stools/constipation （day 5 and week 4） and in three secondary symptoms， i.e.， bitter taste and sticky dry mouth， abdominal distension and poor appetite （throughout the treatment period）， and general heaviness and fatigue （day 5 and week 4）， with statistical differences （P<0.05）. Compared with pre-treatment， both groups showed decreased lipase and urinary amylase levels （P<0.05）. However， no significant between-group differences were observed in pancreatitis or inflammation-related indices after treatment. Compared with pre-treatment， all liver function indicators in the observation group and alanine aminotransferase （ ALT ）， γ-glutamyl transferase （ γ-GT ）， alkaline phosphatase （ALP）， and conjugated bilirubin in the control group significantly decreased at weeks 4 and 8 （P<0.05）. Compared with the control group after treatment， only serum total bilirubin and unconjugated bilirubin were significantly reduced in the observation group during the treatment period （P<0.05）. ConclusionYYLD combined with conventional Western medical treatment can effectively regulate bilirubin metabolism （in bile and serum）， improve TCM clinical symptoms， and prevent CBDS recurrence after ERCP in patients with liver and gallbladder dampness-heat syndrome. This regimen is safe and effective and is worthy of further clinical research and promotion.

To summarize the distribution characteristics of human papillomavirus(HPV) infection types in patients with cervical squamous intraepithelial lesion(SIL) and cervical cancer(CC), and to explore the impact of HPV vaccination, HPV infection types, and general clinical data on different grades of cervical lesions.

Objective: To explore the distribution characteristics and influencing factors of adverse reactions in whole blood donation in Jinan, Shandong, so as to provide evidence for the prevention and control of such adverse reactions in this region. Methods: A retrospective analysis was conducted on whole blood donors and adverse reaction cases in Jinan during 2023. To explore influencing factors of adverse reactions, univariate and multivariate logistic regression analyses were used to examine the relationships between adverse reactions and factors such as gender, age, donation organization mode, donation frequency, donation volume, time slot, and health examination results. Results: A total of 122 961 whole blood donations were recorded in Jinan in 2023. Donation-related adverse reactions occurred in 2 054 cases, with an incidence rate of 1.67%. Univariate analysis revealed significant differences in the incidence of adverse reactions across donor characteristics: the rate was higher in females (2.35%, 921/39 192) than in males (1.35%, 1 133/83 769), donors aged 18-25 years had the highest incidence (3.48%, 1 799/51 733), the incidence in group donations (3.13%, 1,737/55 534) was significantly higher than in individual donations (0.47%, 317/67 427), and insufficient blood collection was closely associated with adverse reactions (all P<0.001). Multivariate logistic regression analysis identified group donation, female gender, and a pulse rate of 81-99 beats per minute as risk factors for adverse reactions (all P<0.001), while systolic blood pressure of 116-139 mmHg and diastolic blood pressure of 76-89 mmHg were protective factors (all P<0.05). Compared to younger and lower-weight donor groups, older and higher-weight donors had a significantly lower risk of adverse reactions (all P<0.05). Donors giving 400 mL had a higher risk than those giving 200 mL (P<0.001). In addition, compared with the donation time slot of 7:00-8:59, the risk of adverse reactions was significantly higher during 9:00-16:59, with the time slot of 13:00-14:59 showing the most prominent risk (all P<0.05). However, no statistically significant difference was observed between the time slot of 17:00-20:59 and that of 7:00-8:59 (P>0.05). The primary clinical manifestation of adverse reactions was donation-related vasovagal reaction, with mental tension being the leading precipitating factor, accounting for 69.08% (1 419/2 054) of cases. Conclusion: The occurrence of adverse reactions in whole blood donation in the Jinan is influenced by multiple factors, including donor demographic characteristics, donation organization mode, physiological indicators, and time of donation. It is recommended to enhance the identification and intervention for high-risk groups, and optimize donation processes and service models to reduce the incidence of adverse reactions, thereby ensuring donor safety and blood quality.

This article systematically reviews the current research status as well as diagnosis and treatment strategies of traditional Chinese medicine （TCM） for gastroesophageal reflux disease （GERD）. Studies demonstrate that TCM， based on the "disease-syndrome combination" approach， exhibits multi-target advantages in alleviating symptoms of various GERD subtypes， promoting mucosal repair， regulating emotions， and facilitating the reduction of western medication. To address clinical challenges such as symptom overlap and limited therapeutic efficacy， strategies have been proposed including "treating different diseases with the same method" and integrated regulation based on viscera correlation. Future efforts should focus on elucidating the mechanisms of compound prescriptions， promoting TCM drug development under the "three-combination" evaluation framework that integrates TCM theory， human experience and clinical trial evidence， and optimizing integrated traditional and western medicine models to enhance GERD management.

As the core vehicle for preserving and transmitting traditional Chinese medicine（TCM） academic thought and clinical experience， the establishment of a robust quality evaluation system for TCM clinical case reports is a crucial component in the current standardization and modernization of TCM. Based on the practical experience of constructing the China Clinical Cases Library of Traditional Chinese Medicine by the China Association of Chinese Medicine， this study conducted a comprehensive analysis of critical challenges， including insufficient authenticity and unfocused evaluation criteria. It proposed a three-dimensional evaluation framework grounded in the structure-process-outcome logic， encompassing three dimensions of authenticity and standardization， characteristics and advantages， application and translational impact. This framework integrated 12 key evaluation indicators in a systematic manner. The model preserved the academic characteristics of TCM syndrome differentiation and treatment， while aligning with modern scientific research standards， achieving a balance between individualized TCM experience and standardized evaluation. Concurrently， this study provided theoretical foundations and methodological guidance for evaluating the quality of TCM clinical cases， contributing significantly to the inheritance of TCM knowledge， evidence-based practice， and the reform of talent evaluation mechanisms.

Glaucoma， characterized by pathological elevation of intraocular pressure， progressive optic nerve damage， and apoptosis of retinal ganglion cells， is one of the leading causes of irreversible blindness. It is strongly associated with significant vision loss and a decline in quality of life. Although pharmacological therapy remains the primary approach to managing glaucoma， clinical outcomes are often suboptimal， highlighting the urgent need for safe and effective alternative treatments. In traditional Chinese medicine （TCM）， glaucoma is categorized as part of the "five wind internal obstruction" syndrome， and TCM has amassed substantial experience in the prevention and treatment of this condition. Therefore， this article provided a comprehensive review of recent findings on the relationship between glaucoma and relevant signaling pathways， as well as the regulatory effects of TCM on these pathways in the treatment of glaucoma. TCM can exert therapeutic effects by modulating key signaling pathways， including the Toll-like receptor 4/myeloid differentiation factor 88/nuclear factor-κB （TLR4/MyD88/NF-κB） signaling pathway， Janus kinase （JAK）/signal transducer and activator of transcription （JAK/STAT） pathway， phosphoinositide 3-kinase/serine-threonine protein kinase/mammalian target of rapamycin （PI3K/Akt/mTOR） pathway， nucleotide-binding oligomerization domain-like receptor protein 3 （NLRP3） inflammasome pathway， and nuclear factor erythroid 2-related factor 2/heme oxygenase-1 （Nrf2/HO-1） pathway. These pathways are involved in reducing inflammation， inhibiting apoptosis and ferroptosis， and ameliorating oxidative stress. By synthesizing current research， this article offers theoretical insights and practical references for advancing the understanding of the pathological mechanisms underlying glaucoma， innovating strategies for optic nerve protection， and promoting integrative TCM and Western medical approaches in glaucoma management.

OBJECTIVE To investigate the efficacy and safety of Wuling capsules combined with fluoxetine in the treatment of adolescents with first-episode moderate-to-severe depressive disorder accompanied by insomnia. METHODS The clinical data of 476 adolescents with first-episode moderate-to-severe depression accompanied by insomnia admitted to our hospital from June 2022 to May 2025， were retrospectively collected. According to the initial treatment regimen， patients were divided into a control group （241 cases， treated with fluoxetine alone） and an observation group （235 cases， treated with Wuling capsules combined with fluoxetine）. The depression severity （Hamilton Depression Rating Scale-17 Item and the Self-Rating Depression Scale scores）， sleep quality （Pittsburgh Sleep Quality Index score， sleep latency， wake after sleep onset， total sleep time， sleep efficiency）， serum neuroendocrine indicator （cortisol） and inflammatory markers （C-reactive protein， interleukin-6） were compared between the two groups before treatment and at 4th and 8th weeks of treatment. The effective rate at 8th weeks and the occurrence of adverse drug reactions （ADRs） were also compared between the two groups. RESULTS Before treatment， there were no significant differences in depression severity， sleep quality， serum neuroendocrine indicator， and inflammatory markers between the two groups （ P ＞0.05）. At 4th and 8th weeks， both groups showed significant improvement in these indicators compared to those before treatment， with the observation group demonstrating significantly greater improvement than the control group at the corresponding time points （ P ＜0.05）. At 8th week， the eff ective rate of the observation group was 90.21%， significantly higher than 80.50% in the control group （ P ＜0.05）. The incidence of nausea， headache， fatigue， dry mouth， and palpitations， as well as the total incidence of ADRs， did not differ significantly between the two groups （ P ＞0.05）. CONCLUSIONS Wuling capsules combined with fluoxetine can significantly improve the effective rate in adolescents with first-episode moderate-to-severe depression accompanied by insomnia， accelerate the relief of depressive symptoms， improve sleep quality， and reduce serum neuroendocrine indicator and inflammatory markers， with a favorable safety profile.

epsis is a systemic inflammatory response syndrome triggered by infection， and its high mortality rate is closely associated with immune imbalance， particularly the imbalance in the differentiation of helper T cell （Th） cell subsets [Th1， Th2， Th17， regulatory T cell （Treg） ] . In recent years， traditional Chinese medicine （TCM）， with its characteristics of multi-component and multi-target actions， has demonstrated unique advantages in regulating Th cell differentiation and function， as well as correcting immune imbalances in sepsis， offering new perspectives for immunotherapy of sepsis. This review summarizes relevant studies on the regulation of Th cell differentiation for sepsis treatment by TCM monomers and active ingredients （such as Astragalus membranaceus ， Scutellaria baicalensis ， Coptis chinensis ， Rheum palmatum ， Ganoderma lucidum ， Ginkgo biloba ， and Cistanche deserticola ）， the alcohol extract of Dai Baijie， and TCM formulas and preparations categorized as blood-activating and stasis-removing， purgative and laxative， warming and tonifying yang， and tonifying qi and nourishing yin. The results indicate that these TCM monomers， active ingredients， extracts， formulas， and preparations can regulate the Th1/Th2 and Th17/Treg balance， target the differentiation balance of Th cell subsets， alleviate inflammatory responses， or improve immune suppression， thereby exerting therapeutic effects on sepsis.