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

Parkinson's disease （PD） is a common neurodegenerative disorder characterized by motor impairments， with its pathological mechanisms involving multiple processes such as the degeneration of dopaminergic neurons and the abnormal aggregation of α-synuclein. Current Western medical treatments face challenges including diminished long-term efficacy and motor complications. In recent years， Traditional Chinese Medicine （TCM） has demonstrated advantages in the prevention and treatment of PD through its systematic regulatory capabilities， featuring multi-component， multi-target， and multi-pathway approaches.This article systematically reviews the roles of seven key signaling pathways-NF-κB， AMPK/mTOR， PI3K/Akt， MAPKs， Nrf2/ARE， Wnt/β-catenin， and BDNF/TrkB-in the pathological process of PD and the regulatory mechanisms of TCM. Research indicates that active ingredients of Chinese herbs and compound formulations can synergistically modulate these pathways， exerting comprehensive effects in inhibiting neuroinflammation， alleviating oxidative stress， promoting autophagy to clear abnormal proteins， and enhancing neurotrophic support. These signaling pathways form a complex regulatory network through crosstalk among key nodal molecules， constituting an intricate regulatory system in PD pathology. The multi-target intervention characteristics of TCM align well with this network-based regulatory requirement， achieving integrated anti-inflammatory， antioxidant， autophagy-regulating， and neurorestorative effects through synergistic multi-pathway modulation. This article systematically outlines the mechanisms of TCM in the coordinated regulation of multiple pathways， providing a theoretical basis for elucidating the pathological process of PD and the intervention mechanisms of TCM， while also offering new perspectives and directions for modern research on TCM in the prevention and treatment of PD.

Rheumatoid arthritis （RA） is a common chronic systemic autoimmune disease with synovitis as the main manifestation， which often causes joint swelling and pain or even deformity. It is considered to be an incurable lifelong disease. Although the current Western medicine treatment can alleviate the progression of the disease， it has the clinical limitations of liver injury， cardiovascular complications， and other adverse reactions， along with easy recurrence. Traditional Chinese medicine （TCM） has a long history and has the advantages of individualized treatment and fewer adverse reactions. It can effectively relieve the symptoms of joint swelling and pain in RA patients and slow down the progression of bone destruction， which has attracted wide concern in the medical community. Janus kinase （JAK）/signal transducer and activator of transcription （STAT） signaling pathway is an important intracellular pathway involved in cell proliferation， differentiation， apoptosis， immune regulation， and other biological behaviors， and plays an important role in the pathophysiological process of RA. In recent years， many studies have confirmed that TCM monomers and compounds can inhibit inflammation and angiogenesis by regulating the JAK/STAT signaling pathway， induce apoptosis and inhibit proliferation of fibroblast-like synoviocytes （FLS）， regulate immune response， and thus exert an effect in the treatment of RA. However， there is still a lack of comprehensive and systematic induction and overview. Therefore， by searching the relevant literature in China National Knowledge Infrastructure （CNKI） and PubMed databases from 2009 to 2024， this study described the mechanism of the JAK/STAT signaling pathway in the occurrence and development of RA and summarized the research progress of TCM monomers and compounds in regulating the JAK/STAT signaling pathway in RA intervention. The study aims to provide new ideas and strategies for the clinical treatment of RA with TCM and the research and development of new drugs.

With the rising incidence of colon cancer, several studies have indicated that aquaporin 1 (AQP1) expression is associated with the development of colon cancer. This study aims to elucidate the potential molecular mechanisms between them. Methods: We screened data from The Cancer Genome Atlas (TCGA) database and retrospectively examined AQP1 protein expression in 127 colon cancer patients to analyze the relationship between AQP1 expression and pathological stages, prognosis. We created stable colon cancer cell lines with differential AQP1 expression, the effect of AQP1 expression on the proliferation and migration of colon cancer cells was assessed by in vitro and in vivo studies, and explored potential molecular mechanisms through Western blotting. Results: High AQP1 expression was associated with poorer survival (overall survival [OS], p = .028) in colon cancer patients from the TCGA database. Similarly, retrospective clinical data indicated that high AQP1 expression was associated with reduced disease-free survival and OS (p = .036 and p = .017, respectively). The low-expressing AQP1 colon cancer cells exhibited a decrease in proliferation and migration ability of colon cancer cells compared to the overexpressing AQP1 group (p < .05) in vitro and in vivo. Immunohistochemistry and western blotting experiments validated heightened expression of N-cadherin, vimentin, and claudin- 1 in the tumor tissues of the overexpressing AQP1 group. Conversely, reduced AQP1 expression resulted in decreased expression of claudin- 1. Conclusions: AQP1 correlates with unfavorable prognosis in colon cancer and potentially enhances the proliferation and migration of colon cancer by up-regulating claudin-1 expression.

Aortic dissection is a serious cardiovascular disease characterized by acute onset and high mortality rates. Although advancements in surgical techniques and anesthesia methods have significantly reduced surgical mortality, postoperative complications, particularly pulmonary complications, remain a challenge for the recovery of patients with aortic dissection. Existing studies indicate that respiratory rehabilitation plays a crucial role in preventing and alleviating postoperative pulmonary complications, and its application is gradually expanding. However, current understanding of respiratory rehabilitation treatment for patients with aortic dissection is still insufficient, and there is a lack of standardized protocols in clinical practice. This article aims to review the existing research evidence, comprehensively analyze common pulmonary complications after aortic dissection surgery, their pathogenesis, the latest advancements in perioperative respiratory rehabilitation, and the main challenges faced, in order to provide references for clinical practice and future research.

Objective To introduce the calculation of the DISO index in multi-dimensional data ranking for disease surveillance, and evaluate its applicability. Methods Using the data from the quality supervision and inspection of infectious disease reporting in Jingzhou City in a certain year as an example, the DISO index was used to rank 16 investigated medical institutions and compared with the TOPSIS method. The consistency between the two evaluation results was analyzed using Spearman correlation. Then, The DISO index from different medical institutions was used to evaluate the ranking of 8 counties (cities, districts). The evaluation indicators for the supervision and inspection included six items: report rate, timely report rate, completeness of report card filling, accuracy of report card filling, consistency rate with network information report, and completeness of valid ID number filling. Results Among the 16 medical institutions, 8 institutions had all six evaluation indicators at 100%. Using the two methods to rank the 16 medical institutions, the two methods showed that the 8 medical institutions with all six evaluation indicators at 100% were ranked first. There was a strong correlation between the rankings of the 16 medical institutions using the two methods (r_s=0.992, P=0.000). The three counties (cities, districts) with all six evaluation indicators at 100% were all ranked first, while country G was ranked seventh and country E was ranked eighth. Conclusion The results of the DISO index and the TOPSIS method were similar in one-dimensional ranking. DISO can be used for multi-dimensional ranking of disease surveillance data and deserves to be promoted and applied.

Breast cancer is one of the most prevalent malignant tumor in women worldwide,in which,triple-negative breast cancer(TNBC)is highly invasive and metastatic.In recent years,the incidence rate of TNBC has gradually increased and shown a trend of younger age.With the in-depth research on the molecular mechanism of breast cancer,neuropilin-1(NRP-1),a transmembrane protein,has been found to be associated with metastasis and prognosis of breast cancer,particularly TNBC.Therefore,NRP-1 has become a promising target for the diagnosis and treatment of breast cancer.The expression and distribution of NRP-1 in breast cancer can be detected by nuclear medicine,optical imaging and multimodal imaging methods in a non-invasive,real-time and accurate manner,which has significant application value in the early diagnosis,staging,treatment,and prognosis evaluation of breast cancer.Nuclear medicine probes specifically target tumor cells or tissues by combining radionuclides(e.g.,68Ga and 99mTc)with specific molecular ligands,and the signal is captured using positron emission tomography(PET)or single-photon emission computed tomography(SPECT),allowing for sensitive diagnosis of breast cancer.With the development of medical imaging and other interdisciplinary subjects,the NRP-1 targeted multimodal molecular probe[68Ga]Ga-NODAGA-K(Cy5)DKPPR combined the high sensitivity of PET with the high resolution advantage of near-infrared fluorescence(NIRF)to achieve precise diagnosis of breast cancer and provide real-time fluorescence navigation during surgery,enhancing the accuracy of tumor tissue identification and excision.In this paper,the advantages and disadvantages of NRP-1 targeted molecular probes in the diagnosis of breast cancer were systematically compared,and the application scope and latest research progress of various probes in the diagnosis and treatment of breast cancer were described,in order to provide reference for the development and clinical application of breast cancer targeted molecular probes.

Objective:To summarize the clinical phenotype and analyze genetic variant characteristics of hereditary pancreatitis (HP) in children.Methods:Eight families of children diagnosed with HP and admitted to the Children's Hospital Affiliated to Zhengzhou University from August 2022 to May 2024 were selected as the research subjects. A retrospective analysis was conducted on the clinical characteristics, pathogenic gene carrying status, and follow-up of the children. Whole exome sequencing was applied to conduct genetic testing on the 8 children and their relatives. Suspected variations were verified by Sanger sequencing and subjected to bioinformatics analysis.Results:This population was made up of 2 boys and 6 girls with the median onset age of 1.2(0.5-3.4) years. The median age at diagnosis was 2.9(1.5-5.7) years. The clinical symptoms and signs were abdominal pain (8/8), abnormal crying (6/8), vomiting (4/8), and bloating (2/8). None of them had jaundice, fever, hydrothorax or ascites. Pancreatitis generally occurred 4-6 times, and occurred 1-3 times before HP was diagnosed. 6 patients had family history of pancreatitis. Blood amylase and lipase in all 8 patients spiked by over 3 folds. Abdominal imaging showed enlarged pancreas with or without peripheral exudation (8/8), and pancreatic pseudocyst (1/8). The whole exome sequencing detected 2 splicing variant of SPINK1 gene c.194+2T>C(p.IVS3+2T>C), and 6 missense variations of PRSS1 gene c.86A>T(p.N29I) ( n=4) and c.365G>A(p.R122H) ( n=2). Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), all variants were assessed as pathogenic, including 6 inherited from father and 2 from mother. The predicted splicing model indicated that the splice site mutation c.194+2T>C can cause exon skipping, resulting in an unstable truncated protein. Analysis with PyMOL software suggested that the variants c.86A>T (p.N29I) and c.365G>A (p.R122H) may affect the structure of the encoded protein. Conventional conservative measures, including fasting, trypsin secretion inhibition by octreotide, were offered. One child underwent endoscopic retrograde cholangiopancreatogram plus pancreatic duct lithotomy and pancreatic duct stenting. Conclusions:For recurrent childhood pancreatitis, especially with family history, genetic testing is helpful for early diagnosis of HP.

Objective:To prepare a nano-barium titanate@gold Schottky junction (nano-BaTiO 3@Au) coating and investigate its effects on the adhesion, proliferation, and osteogenic differentiation of bone marrow stem cells (BMSCs), aiming to explore a titanium surface modification strategy with superior osteogenic activity. Methods:Pure titanium specimens served as the control group (Ti group). Titanium dioxide coatings were prepared on their surfaces via anodic oxidation. Nano-barium titanate (nBTO group) was further synthesized using the hydrothermal method. Gold nanoparticles were grown in situ on the nano-BaTiO 3 via high-temperature reduction of chloroauric acid using sodium citrate, yielding the nano-barium titanate@gold Schottky junction coating (nBTO@Au group). Surface morphology was observed by scanning electron microscopy (SEM). Elemental composition was analyzed using X-ray energy dispersive spectrum (EDS) and X-ray photoelectron spectroscopy (XPS). Crystal structure was analyzed using X-ray diffraction (XRD) and Raman spectroscopy. Hydrophilicity was assessed via water contact angle measurement. Specimens were co-cultured with BMSCs to evaluate biocompatibility and osteogenic properties. Cell proliferation on days 1, 3, 5, and 7 was assessed using the cell counting kit-8 (CCK-8) assay. Cytotoxicity towards BMSCs was assessed using live/dead cell staining. Cell morphology and adhesion were observed using cytoskeleton staining. Alkaline phosphatase (ALP) expression in BMSCs after 7 days was quantified using an ALP activity assay and ALP staining. Extracellular matrix mineralization after 7 days was evaluated using alizarin red staining and quantification assay. Each experiment was performed using three specimens per group. Results:Scanning electron microscopy revealed that gold nanoparticles with the diameter of(14.838±0.718) nm, uniform in size and homogeneously distributed, were successfully grown in situ on the surface of the nBTO coating. EDS and XPS confirmed the presence of Ba, Ti, O, and Au elements in the nBTO@Au composite coating. XRD and Raman spectroscopy analysis indicated that the nanostructured barium titanate (nBTO) coating was synthesized via a hydrothermal method.Water contact angle measurements showed that the contact angle was 66.8°± 0.45° for the control group, 22.55°±0.42° for the nBTO group, and 26.78°±1.15° for the nBTO@Au group, indicating good hydrophilicity of both nBTO and nBTO@Au coatings. On day 1 and day 3 of culture, the cell proliferation in the nBTO group was significantly lower than that in the control group ( P<0.05). In contrast, no significant differences were observed between the nBTO@Au group and either the control group or the nBTO group (all P>0.05). By day 5, the cell proliferation of nBTO@Au groups was significantly lower than that of the control group ( P<0.05), and the cell proliferation of nBTO group was significantly lower than that of the control group and that of the nBTO@Au group ( P<0.05). By day 7, there were no statistically significant differences in cell proliferation among all experimental groups ( F=1.62, P>0.05).Live/dead cell staining demonstrated that the cell survival rate exceeded 90% in all groups, with normal morphology and few dead cells, indicating good biocompatibility of the nBTO@Au coating. Compared to the control group, both nBTO and nBTO@Au groups promoted cell adhesion and spreading, although no significant difference in cell morphology was noted between the two modified groups. ALP staining revealed a larger stained area and deeper coloration in the nBTO@Au group. Quantitative results showed that ALP activity in the nBTO@Au group was significantly higher than that in both the nBTO and control groups ( P<0.05), and the nBTO group also exhibited significantly higher activity than the control group( P<0.05). Alizarin red staining indicated the deepest coloration in the nBTO@Au group, followed by the nBTO group, and the lightest in the control group. Quantitative analysis further confirmed that the amount of calcium nodule deposition in the nBTO@Au group was significantly greater than that in the other two groups ( P<0.05), and the nBTO group also showed significantly more deposition than the control group( P<0.05). Conclusions:This study successfully prepared an nBTO@Au coating possessing good biocompatibility and enhanced osteogenic properties.

Objective To evaluate the clinical efficacy of"Tongdu Tiaoshen"acupuncture combined with hand function rehabilitation training in patients with hand dysfunction following cerebral infarction.Methods A total of 104 patients were randomly assigned to either the observation group(receiving"Tongdu Tiaoshen"acupunc-ture combined with hand function rehabilitation training)or the control group(undergoing hand function rehabilita-tion training alone),with 52 patients in each group.Both groups underwent a 4-week treatment regimen.The following outcome measures were assessed pre-and post-treatment:Modified Ashworth Scale(MAS),Modified Lindmark Scale(MLS),Brunnstrom Motor Function Score(BMS)for upper limbs,Fugl-Meyer Assessment(FMA)of upper limb motor function,Modified Barthel Index(MBI),and grip strength(GS).Adverse events were docu-mented,and the clinical efficacy in each group was evaluated by calculating the effective rate.Results After excluding dropouts,a total of 94 cases were included in the final statistical analysis,with 48 cases assigned to the observation group and 46 to the control group.Both groups demonstrated significant improvements in MLS,MAS,BMS,FMA,MBI,and GS scores compared to pre-treatment levels,with all differences being statistically significant(P<0.05).Following treatment,intergroup comparisons also revealed statistically significant differences in all mea-sured indicators(P<0.05).The total effective rate was higher in the observation group(91.7%)than in the control group(82.6%),and the difference in efficacy grades between the two groups was statistically significant(P<0.05).Conclusions"Tongdu Tiaoshen"acupuncture,when combined with hand function training,demonstrates signifi-cantly greater efficacy than hand function rehabilitation training alone in improving post-cerebral infarction hand dysfunction.It enhances grip strength and fine motor coordination of the affected limb,alleviates hand muscle spasticity and joint stiffness,and promotes recovery of upper limb motor function,thereby improving patients'activities of daily living.This integrated therapeutic approach warrants further clinical validation and in-depth research for broader implementation.