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

AIM:To analyze the efficacy of modified Zhujing formula combined with intravitreal ranibizumab(IVR)injection in the treatment of wet age-related macular degeneration(wARMD).METHODS: A prospective study was conducted on wARMD patients at the Ophthalmology Department of Yulin Hospital of Traditional Chinese Medicine from September 2022 to October 2024. The study subjects were divided into the experimental group and the control group according to the random number table method. The control group received IVR treatment, while the experimental group was treated with modified Zhujing formula in addition to IVR injection. The clinical efficacy, TCM symptom scores, central retinal thickness(CRT), best corrected visual acuity(BCVA), macular hemorrhage area, choroidal neovascularization area(CNV), ocular hemodynamic parameters [resistance index(RI), maximum diastolic blood flow(EDV), maximum systolic blood flow(PSV)], and 1-year recurrence rate were compared between the two groups.RESULTS: This study included 60 eyes from 60 wARMD patients. Among them, the control group consisted of 30 patients and 30 eyes, while the experimental group consisted of 30 patients and 30 eyes. The age of the control group was 67.52±3.12 y, with 17 males and 13 females. The age of the experimental group was 67.62±3.04 y, with 18 males and 12 females.The clinical efficacy of the experimental group(97%)was higher than that of the control group(73%)(P<0.05). After treatment, the scores of blurred vision, soreness and weakness of the waist and knees, restlessness and insomnia, dizziness and tinnitus in the experimental group were all lower than those in the control group(all P<0.05); the EDV and PSV in the experimental group were both higher than those in the control group(both P<0.05); the BCVA, CRT, macular hemorrhage area, CNV and RI of the experimental group were all lower than those of the control group(all P<0.05), and the 1-year recurrence rate in the experimental group(3%)was lower than that in the control group(27%)(P<0.05). CONCLUSION:The combined use of modified Zhujing formula and IVR can effectively alleviate symptoms such as blurred vision and retinal hemorrhage in wARMD patients, improve vision and ocular hemodynamic conditions, and reduce the recurrence rate. This suggests that there may be a synergistic enhancing effect.

ObjectiveTo explore the mechanism by which Qiangjing tablets （QJT） alleviate the spermatogenic function damage caused by varicocele （VC） based on the Kelch-like ECH-associated protein 1 （Keap1）/nuclear factor erythroid 2-related factor 2 （Nrf2） signaling pathway-mediated oxidative stress. MethodsTen Sprague-Dawley （SD） rats were randomly assigned into a control group and a model group. Pathological examination confirmed the stability of the model. Thirty-six SD rats were randomized into control， model， low-dose （0.23 g·kg^-1） QJT， medium-dose （0.46 g·kg^-1） QJT， high-dose （0.92 g·kg^-1） QJT， and mazhilin （61.7 mg·kg^-1） groups， with 6 rats in each group. A rat model of experimental left varicocele （ELV） was established by partially ligating the left renal vein to simulate the human nutcracker syndrome. The rats were administrated with corresponding agents once a day for 28 consecutive days. The in vitro testicular culture model of rats was established through the Transwell chamber method and intervened with QJT-containing sera （2.3， 4.6， and 9.2 g·kg^-1）. Microscopic observation was carried out for the morphology of the left kidney. A micrometer was used to measure the diameter of the left spermatic vein （LSV）. The body weights of rats were recorded weekly， and the epididymis and testis weights were measured. The pathological changes of the testicular tissue was observed via hematoxylin-eosin （HE） staining. The levels of testosterone （T） in the cell culture supernatant and reactive oxygen species （ROS） in the rat testicular tissue were measured by enzyme-linked immunosorbent assay （ELISA）. Flow cytometry was employed to determine the ROS content. Immunohistochemical staining was conducted to analyze Keap1， Nrf2， 3β-hydroxysteroid dehydrogenase （3β-Hsd）， GATA-binding protein-4 （Gata-4）， and proto-oncogene receptor tyrosine kinase （C-kit）. The ultrastructure of the tissue was observed by transmission electron microscopy （TEM）. Cell apoptosis was detected by terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling （TUNEL） staining. The expression of Keap1， Nrf2， glutathione S-transferase α2 （Gsta2）， glutathione S-transferase μ1 （Gstm1）， heme oxygenase-1 （HO-1）， quinone oxidoreductase 1 （Nqo1）， and thioredoxin reductase 1 （Txnrd1） was quantified by Real-time quantitative polymerase chain reaction（Real-time PCR） and Western blot. ResultsCompared with the control group， the ROS content and the percentage of apoptotic cells in the model group were significantly increased （P<0.01）， the T concentration was significantly decreased （P<0.01）， the mRNA and protein expressions of Keap1 were significantly increased （P<0.01）， and the mRNA and protein expressions of Nrf2， Gsta2， Gstm1， HO-1， Nqo1 and Txnrd1 were significantly decreased （P<0.05）. Compared with the model group， the ROS content and the percentage of apoptotic cells in each dose group of the Qiangjing Tablets were significantly reduced （P<0.05）， and the mRNA and protein expressions of Keap1 were significantly decreased （P<0.05）， while the mRNA and protein expressions of Nrf2， Gsta2， Gstm1， HO-1， Nqo1 and Txnrd1 were significantly increased （P<0.05）. ConclusionQJT improves sperm motility in the rat model of VC by modulating the Keap1/Nrf2 signaling pathway and reducing oxidative stress injury.

ObjectiveTo explore the effect of cluster scalp acupuncture combined with Taijiquan training on depressive symptom, motor function, activities of daily living, serum markers, as well as brain functional connectivity (FC) and network topological properties in patients with post-stroke depression (PSD). MethodsA total of 40 PSD patients in the Second Affiliated Hospital of Heilongjiang University of Chinese Medicine from September, 2022 to September, 2023 were enrolled and randomly divided into control group (n = 20) and experimental group (n = 20). The control group received cluster scalp acupuncture alone, while the experimental group underwent Taijiquan training in addition, for four weeks. They were assessed with Hamilton Depression Scale-17 (HAMD-17), Fugl-Meyer Assessment (FMA) and Barthel Index (BI) before and after treatment, while the serum levels of dopamine (DA), 5-hydroxytryptamine (5-HT), interleukin-6 (IL-6) and tumor necrosis factor-α (TNF-α) were detected with enzyme-linked immunosorbent assay. Resting-state functional magnetic resonance imaging (rs-fMRI) was applied to assess brain FC, as well as the global efficiency (Eg) and small-world property (σ) of brain networks. ResultsThe scores of HAMD-17, FMA and BI improved in both groups (t > 2.922, P < 0.01) after treatment, and improved more in the experimental group than in the control group (t > 2.517, P < 0.05). The serum levels of DA and 5-HT increased in both groups (t > 2.637, P < 0.05), and increased more in the experimental group (t > 2.192, P < 0.05). The serum levels of IL-6 and TNF-α decreased in the experimental group after treatment (t > 4.059, P < 0.001), and they were less than those in the control group (t > 2.154, P < 0.05). FC between left middle frontal gyrus and right anterior cingulate gyrus, as well as between left hippocampus and right precuneus were higher in the experimental group than in the control group after treatment (t > 3.867, P < 0.001), while Eg and σ increased in both groups (t > 2.828, P < 0.05), and they were higher in the experimental group (t > 2.675, P < 0.05). ConclusionCombination of Taijiquan training is more effective on depressive symptoms, motor function and activities of daily living in PSD patients, which may be related to up-regulation of serum DA and 5-HT, reduction of inflammatory factors, enhancement of prefrontal-limbic system functional connectivity and optimization of brain network topological properties.

Objective To evaluate the consistency of multi-slice spiral CT (MSCT), Digital Radiography (DR) and fat-suppression MRI in detecting occult knee joint injury. Method Clinical data from 150 patients with suspected occult knee injuries who presented to the Department of imaging at the General Hospital of Ordnance Industry between August 2022 and August 2023 were retrospectively reviewed. All patients underwent MSCT, DR, and fat-suppression MRI for diagnostic evaluation. Arthroscopic or surgical findings served as the gold standard. We analyzed and compared the detection rates of specific types of occult knee injuries (ligament, meniscus, occult fracture, etc.) across the three modalities, as well as their ability to assess the degree of collapse and horizontal displacement in patients with knee fractures, and their overall diagnostic performance. Result According to the gold standard, among the 150 patients with suspected occult knee injury, 103 tested positive and 47 negative. Statistically significant differences were observed among MSCT, DR, and fat-suppression MRI in detecting occult fractures(P<0.05). The detection rates ranked in descending order asfollows: fat-suppression MRI>MSCT>DR. However, no significant difference were found in the detection rates of joint effusion and patellar cartilage injuries among the three techniques (P>0.05). Statistically differences were also note among the three techniques in detecting the degree of collapse and horizontal displacement in patients with knee fractures (P<0.05). Specifically fat-suppression MRI identified a higher proportion of grade 1 and 2 lesions than both MSCT and DR. Statistically significant differences were observed among the three techniques in diagnostic sensitivity and accuracy for occult knee injuries (P<0.05). Fat-suppression MRI demonstrated superior sensitivity (99.03%) and accuracy (96.67%) compared with MSCT (75.73%, 79.33%) and DR (61.17%, 68.00%). However, no significant difference was found in diagnostic specificity among the three techniques (P>0.05). Conclusion Compared with MSCT and DR, fat-suppression MRI offers higher diagnostic sensitivity and accuracy for occult knee injuries, particularly in identifying ligament injuries, meniscus injuries, and occult fractures.

Objective To evaluate the clinical utility of combining magnetic resonance imaging (MRI) findings with serum levels of cysteine-rich protein 61 (CYR61) and C-X-C motif chemokine ligand 1 (CXCL1) for early identification of acute stroke. Methods The study was conducted 205 patients with suspected acute stroke admitted to the neurology department of our hospital between April 2021 and April 2024. Based on brain CT imaging and clinical diagnosis, 119 patients were acute stroke group and 86 to non-acute stroke group. All patients underwent MRI examination. Serum levels of CYR61 and CXCL1 were measured. Receiver operating characteristic (ROC) curves were generated to assess diagnostic value, and Kappa tests were used to performed to evaluate the consistency. Results Serum level of CYR61 and CXCL1were significantly higher in the acute stroke group than in the non-acute stroke group (P<0.05). The area under the ROC curve (AUC) for serum CYR61 in diagnosing acute stroke was 0.867 (95%CI: 0.819-0.915), with diagnostic threshold of 6.02 μg/L; for CXCL1, the AUC was 0.818 (95%CI: 0.762-0.875), with a threshold of 1.28 ng/mL. The Kappa values for agreement between MRI, serum CYR61, and CXCL1 clinical diagnosis results were 0.766, 0.586, and 0.528, respectively, the Kappa value for the consistency between the combination of the three with clinical diagnosis results was 0.920 (P<0.05). The sensitivity, negative predictive value, and accuracy of the combination of MRI, serum CYR61, and CXCL1 were obviously higher than that of the individual diagnosis, and the specificity and positive predictive value were obviously higher than that of the individual diagnosis of serum CYR61 and CXCL1 (P<0.05). Conclusion The clinical diagnostic accuracy of MRI combined with serum CYR61 and CXCL1 in the diagnosis of acute stroke is high, the combined diagnosis is obviously better than the individual diagnosis of each indicator.

Objective To evaluate the consistency of multi-slice spiral CT (MSCT), Digital Radiography (DR) and fat-suppression MRI in detecting occult knee joint injury. Method Clinical data from 150 patients with suspected occult knee injuries who presented to the Department of imaging at the General Hospital of Ordnance Industry between August 2022 and August 2023 were retrospectively reviewed. All patients underwent MSCT, DR, and fat-suppression MRI for diagnostic evaluation. Arthroscopic or surgical findings served as the gold standard. We analyzed and compared the detection rates of specific types of occult knee injuries (ligament, meniscus, occult fracture, etc.) across the three modalities, as well as their ability to assess the degree of collapse and horizontal displacement in patients with knee fractures, and their overall diagnostic performance. Result According to the gold standard, among the 150 patients with suspected occult knee injury, 103 tested positive and 47 negative. Statistically significant differences were observed among MSCT, DR, and fat-suppression MRI in detecting occult fractures(P<0.05). The detection rates ranked in descending order asfollows: fat-suppression MRI>MSCT>DR. However, no significant difference were found in the detection rates of joint effusion and patellar cartilage injuries among the three techniques (P>0.05). Statistically differences were also note among the three techniques in detecting the degree of collapse and horizontal displacement in patients with knee fractures (P<0.05). Specifically fat-suppression MRI identified a higher proportion of grade 1 and 2 lesions than both MSCT and DR. Statistically significant differences were observed among the three techniques in diagnostic sensitivity and accuracy for occult knee injuries (P<0.05). Fat-suppression MRI demonstrated superior sensitivity (99.03%) and accuracy (96.67%) compared with MSCT (75.73%, 79.33%) and DR (61.17%, 68.00%). However, no significant difference was found in diagnostic specificity among the three techniques (P>0.05). Conclusion Compared with MSCT and DR, fat-suppression MRI offers higher diagnostic sensitivity and accuracy for occult knee injuries, particularly in identifying ligament injuries, meniscus injuries, and occult fractures.

Objective To evaluate the consistency of multi-slice spiral CT (MSCT), Digital Radiography (DR) and fat-suppression MRI in detecting occult knee joint injury. Method Clinical data from 150 patients with suspected occult knee injuries who presented to the Department of imaging at the General Hospital of Ordnance Industry between August 2022 and August 2023 were retrospectively reviewed. All patients underwent MSCT, DR, and fat-suppression MRI for diagnostic evaluation. Arthroscopic or surgical findings served as the gold standard. We analyzed and compared the detection rates of specific types of occult knee injuries (ligament, meniscus, occult fracture, etc.) across the three modalities, as well as their ability to assess the degree of collapse and horizontal displacement in patients with knee fractures, and their overall diagnostic performance. Result According to the gold standard, among the 150 patients with suspected occult knee injury, 103 tested positive and 47 negative. Statistically significant differences were observed among MSCT, DR, and fat-suppression MRI in detecting occult fractures(P<0.05). The detection rates ranked in descending order asfollows: fat-suppression MRI>MSCT>DR. However, no significant difference were found in the detection rates of joint effusion and patellar cartilage injuries among the three techniques (P>0.05). Statistically differences were also note among the three techniques in detecting the degree of collapse and horizontal displacement in patients with knee fractures (P<0.05). Specifically fat-suppression MRI identified a higher proportion of grade 1 and 2 lesions than both MSCT and DR. Statistically significant differences were observed among the three techniques in diagnostic sensitivity and accuracy for occult knee injuries (P<0.05). Fat-suppression MRI demonstrated superior sensitivity (99.03%) and accuracy (96.67%) compared with MSCT (75.73%, 79.33%) and DR (61.17%, 68.00%). However, no significant difference was found in diagnostic specificity among the three techniques (P>0.05). Conclusion Compared with MSCT and DR, fat-suppression MRI offers higher diagnostic sensitivity and accuracy for occult knee injuries, particularly in identifying ligament injuries, meniscus injuries, and occult fractures.

Based on advancements in modern medical research regarding the intricate connection between the endocrine and exocrine functions of the pancreas， as well as the relationship between pancreatic functions and traditional Chinese medicine （TCM） spleen system， this paper discussed the categorization of the pancreas. It is proposed that the pancreas is neither a true zang organ nor a fu organ， but possessed the attributes of an extraordinary fu-organ and can be classified under the spleen. The spleen governs transportation and transformation， ascent of the clear and dispersion of essence， which encompasses the endocrine and exocrine functions， and pancreatic enzymes and glucose-regulating hormones form the material basis for the spleen's function of dispersing essence. Diseases of the pancreas exhibit characteristics of both zang-organ deficiency and fu-organ excess， so treatment should simultaneously supplement zang-organ disease and regulate fu-organ disease when pancreas showing endocrine and exocrine co-morbidities， with focus on restoring the pancreas （spleen）'s dispersing essence function. Therapeutic strategies include supplementing spleen qi， nourishing spleen yin to strengthen spleen earth， unblocking spleen collaterals， raising spleen yang， and removing spleen turbidity to support the spleen's dispersing essence function， so as to replenish the essential qi of zang-fu organs， ensure their distribution throughout the body， and improve the endocrine and exocrine functions of the pancreas.

Objective To explore the research hotspots and development trends of microbiota-gut-brain axis(MGBA)related literature both domestically and internationally.Methods Relevant MGBA literature from 2000 to 2023 was retrieved from the Web of Science Core Collection,and bib-liometric and visualization analyses were conducted using CiteSpace 6.3.R1 software.Results A total of 857 MGBA-related articles were analyzed.China and the United States are representative countries in this field,with CRYAN J F and University College Cork being the most influential author and the most productive institution,respectively.In recent years,high-frequency research had fo-cused on neurodegenerative diseases,intra-and extra-axis interactions with the body,and interventions involving short-chain fatty acids(SCFAs),tryptophan metabolism and serotonin.Conclusion The research in MGBA continues to be hotspot,and the research focus gradually transit from the verifica-tion of the relationship with diseases to the intra-axis interaction mechanism.The research hotspot of nervous system related diseases has been enduring in this field,and the therapeutic measures targeting the metabolites of intestinal flora and metabolomics are expected to become the future research trend in this field.