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

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: Scutellarin in Shuganning injection has potential allergenicity and is prone to causing anaphylactoid reactions. There is an urgent need to establish a simple and rapid chromatographic quantitative method to achieve the limit control of scutellarin in Shuganning injection.
Methods: For scutellarin, HPLC method was used in the quantitative analysis using a Shim-pack GIS C₁₈ (2.1 mm×150 mm, 5 μm) column. The mobile phase was a blend of 0.1% trifluoroacetic acid in water and acetonitrile, and gradient elution progress was applied for the whole process. The flow rate was 0.3 mL·min^-1 and the column temperature was maintained at 37 ℃. The detecting wavelength was 320 nm.
Results: The linear regression equation was y=51 456x-27 352, the correlation coefficient r=0.999 8, namely the calibration curve was linear in the range of 1.02-102.00 μg·mL^-1; the average recovery was 103.76%; the detection and quantification limit for determining scutellarin was 0.16 μg·mL^-1 and 0.57 μg·mL^-1, respectively; the injection sample was stable at room temperature for 48 h.
Conclusion: This method is easy to operate, reproducible and has high accuracy, thus can be used for quality control of Shuganning injection.

To analyze the clinical and genetic features of oculopharyngodistal myopathy (OPDM) patients and compare the phenotypic differences among various causative genes.

Objective:To analyze the incidence rate and disability-adjusted life year (DALY) rate of Chlamydia trachomatis ( C. trachomatis) infection in women aged 15-49 years in China from 1990 to 2021, identify the vulnerable populations, and provide evidence for the prevention and control of C. trachomatis infection. Methods:The data from Global Burden of Disease Study 2021 were used to analyze the incidence rate and DALY rate of C. trachomatis infection in women aged 15-49 years in China from 1990 to 2021 by using Joinpoint regression model. The age-period-cohort analysis method was used to decompose the age effect, period effect and cohort effect of incidence rate and DALY rate of C. trachomatis infection. Results:From 1990 to 2021, the incidence rate of C. trachomatis infection increased from 5 892.02/100 000 in 1990 to 7 402.23/100 000 in 2021 in women aged 15-49 years in China. The DALY rate increased from 1.92/100 000 person-years in 1990 to 2.00/100 000 person-years in 2021. Joinpoint regression showed that, from 1990 to 2021, the annual incidence of C. trachomatis infection in Chinese women age aged 15-49 years increased by 0.74% [average annual percent change (AAPC) =0.74%, 95% CI: 0.67%-0.81%, t=21.94, P<0.001] and the annual average DALY rate increased by 0.11% (AAPC=0.11%, 95% CI: -0.09%-0.30%, t=1.06, P=0.287). Age-period-cohort model analyses showed that women aged 30-34 years were at high risk to be infected with C. trachomatis and women aged 40-44 years were at high risk to have high DALY. The period effect showed that the risk for C. trachomatis infection began to increase in 1990, peaked during 2000-2004, then gradually decreased. During 2015-2019, the infection risk increased again, while the risk for high DALY showed a decreasing trend. The cohort effect showed that the risks for C. trachomatis infection and DALY were lower in later birth cohorts. Conclusions:From 1990 to 2021, the incidence rate and DALY rate of C. trachomatis infection showed fluctuations in women aged 15-49 years in China. It is necessary to pay close attention to the prevention and control of C. trachomatis infection in women aged 30-34 years.

Objective:To construct a visual analysis system for the operation efficiency of medical equipment,improve the quality of medical services while improving the management level and efficiency of medical equipment.Method:Using the hospital LAN and Internet of Things technology,using advanced indoor positioning technology,three-dimensional high-precision map technology,installing active Bluetooth technology tags in movable high-value medical examination equipment,using LoRa long-distance wireless communication technology,real-time collection of equipment operation status,use frequency,fault information and other data,docking the hospital's business system,with the help of data visualization technology,designed to be able to real-time data,Historical data is integrated into a visual medical equipment operation efficiency analysis system that analyzes graphical interfaces in different dimensions.Results:The system realized the tracking,positioning,monitoring and traceability of the operation status and real-time movement trajectory of medical equipment through maps,ring charts,bar charts,line charts,stand-alone operation status charts,equipment operation status rankings,etc.,providing multi-dimensional,accurate and real-time equipment operation information for the use and management of medical equipment to ensure the high-quality development of the hospital.Conclusion:Through the accurate analysis of the operation efficiency of medical equipment,hospitals can better control medical costs and improve economic and social benefits.

Objective:Primary pulmonary mucoepidermoid carcinoma(PMEC)is a rare malignant lung tumor that accounts for approxim-ately 0.1%-0.2%of all primary pulmonary neoplasms.Due to the non-specific clinical symptoms and epidemiological features,PMEC poses diagnostic challenges.Methods:Tissue blocks from 23 archived PMECs were collected from The First Affiliated Hospital of Soochow Uni-versity(November 2012 to December 2023).To establish definitive diagnoses,comprehensive histopathological evaluation,including histo-morphological analysis,immunohistochemistry(IHC),fluorescence in situ hybridization(FISH),and periodic acid-Schiff(PAS)staining were performed.Results:The tumors consisted of varying proportions of mucin-secreting cells(mucous cells),intermediate cells,and epidermoid cells.Immunophenotypically,CK7 was predominantly expressed in the mucous cells,whereas CK5/6,p40,and p63 were expressed in the epidermoid and intermediate cells.The Ki-67 proliferation index ranged from 5%to 60%.All tumors were negative for TTF-1 and Napsin A.Five of the tumors were positive for PD-L1(clone 22C3),with a tumor percentage score of 3%-20%.All 11 tumors tested for ALK(clone D5F3)were negative.IHC for c-Met was performed on two tumors and both were weakly positive(+).Mastermind-like transcriptional co-activator 2(MAML2)gene rearrangement was detected in 34.8%(8/23)of the tumors.Mucous cells were PAS positive.Kaplan-Meier surviv-al analysis revealed a significantly poorer prognosis for patients with lymph node metastasis,distant metastasis,advanced TNM stage(Ⅲ+Ⅳ),poor differentiation,or MAML2 gene rearrangement negativity.Univariate analysis identified poor histological differentiation,lymph node metastasis,distant metastasis,and advanced TNM stage as the major prognostic risk factors.Multivariate analysis confirmed poor differentiation and distant metastasis as independent risk factors for adverse outcomes.Conclusions:PMEC is an aggressive tumor with low incidence and non-specific clinical manifestations,leading to frequent misdiagnosis.Clinicians should maintain a high index of suspicion and ensure a thorough differential diagnosis.

Objective:To analyze the values of platelet transforming growth factor-β (TGF-β) and SMAD family member 2 (Smad2) in patients′ peripheral platelets for CRC diagnosis and staging.Methods:Retrospective case-control study. Tumor tissues, paratumor tissues and peripheral blood samples were collected from 248 CRC patients (147 males, 101 females; age 21-93 years) diagnosed in the First Hospital of Jilin University from October 10th, 2020, to March 10th, 2025. Peripheral blood samples were also collected from 40 colorectal adenomatous polyp patients (21 males, 19 females; age 22-74 years) and 75 healthy individuals (43 males, 32 females; age 18-81 years) during the same period. Tissue homogenates and platelets were isolated using tissue disruption and gradient centrifugation, respectively. Total RNA was respectively extracted from tissues and platelets, and the expression levels of TGF-β and Smad2 were quantified by real-time fluorescence quantitative polymerase chain reaction (RT-qPCR) expressed as relative quantity 2 -ΔΔCt. Differences of TGF-β and Smad2 expression were compared between CRC tissues and adjacent tissues, as well as among CRC patients, polyp patients, and healthy controls. The relationship of platelet TGF-β and Smad2 expression with pathological features includingtumor stage, pathological type, and metastasis were analyzed. The efficiency of platelet TGF-β, Smad2, and their combination in diagnosing CRC was evaluated using receiver operating characteristic (ROC) curves. Results:The expression levels of TGF-β and Smad2 in CRC tumor tissues[1.09 (0.45, 2.00), 2.93 (0.78, 6.73)] were significantly higher than those in adjacent tissues[0.81 (0.27, 1.50), 1.29 (0.40, 2.63)] ( Z TGF-β=4.54, Z Smad2=6.67, both P<0.001). The expression levels of TGF-β and Smad2 in platelets of CRC patients[2.73(1.53, 4.38), 3.16 (1.58, 4.38)] were significantly higher than those in the colorectal polyp group[1.23(0.70, 2.54), 1.16(0.78, 2.27)] and the healthy control group[0.96(0.51, 1.88), 0.92 (0.55, 1.88)] ( H TGF-β=59.71, H Smad2=78.74, both P<0.001). Platelet TGF-β expression increased progressively with tumor stage (stage 1-4) ( P<0.05), while platelet Smad2 levels were higher in metastatic CRC compared with non-metastatic cases ( P<0.05). ROC curve analysis showed that the area under the curve (AUC) for diagnosing CRC when combining platelet TGF-β and Smad2 was 0.81[95%Confidence interval( CI) 0.77—0.86], which was 0.90 (95% CI 0.86—0.93) if adding serum carcinoembryonic antigen (CEA). Conclusion:Platelet TGF-β and Smad2 expression correlates with the diagnosis and staging of CRC, demonstrating potential as liquid biopsy biomarkers for colorectal malignancies.

Insulin is an important protein hormone that participates in multiple metabolic pathways.Biosynthetic insulin has been widely used in the treatment of type 1 and type 2 diabetes.Currently,the number of reported cases of insulin overdose both at home and abroad is gradually increasing,and insulin homicide is no longer a means of"committing murder without leaving a trace".At present,there are no systematic protocols for the identification of insulin overdose in the field of forensic medi-cine in China.This article introduces the causes,toxicological characteristics,forensic examination,labo-ratory testing methods and indicator reference of insulin overdose.Based on the identification practice and research results and referring to relevant studies on insulin overdose at home and abroad,this pa-per aims to provide recommendations and references for the formulation of forensic identification guide-lines for insulin overdose cases.

BACKGROUND:The regulation of M1/M2 polarization direction of macrophages is particularly critical in tissue engineering applications,and timely regulation can minimize proinflammatory,anti-inflammatory,or tissue healing responses. OBJECTIVE:To implant lentivirus-mediated miRNA-378a macrophage strain complex collagen to detect the expression level of immune regulation in the in vivo environment,and further clarify the influence of miRNA-378a in promoting macrophage M2 polarization in immune regulation and tissue repair in the in vivo environment. METHODS:Lentivirus-mediated miRNA-378a overexpressing macrophage cell lines and negative control virus macrophage lines were amplified and screened,and the macrophage lines were recovered and cultured together with collagen sponge to form a composite scaffold,which was divided into the following groups:(1)Positive group:miRNA-378a overexpressing macrophage-collagen sponge composite;(2)negative group:negative control of virus-mediated miRNA-378a macrophage-collagen sponge composite;(3)control group:macrophage-collagen sponge;(4)blank control group:collagen sponge.The cell density,phenotype,and adhesion of each group were observed by immunofluorescence and scanning electron microscopy.The cells were implanted into the subcutaneous model of the back of mice,and the mice were sacrificed 4 and 7 days after modeling.The direction of macrophage polarization in the collagen sponge composite of macrophages with miRNA-378a overexpression mediated by lentivirus and its effect on immune regulation and tissue repair were analyzed by gross observation,hematoxylin-eosin staining,MASSON staining,and immunohistochemistry. RESULTS AND CONCLUSION:(1)Under immunofluorescence microscopy,the macrophage cell lines in each group were observed to form a composite scaffold with the collagen sponge.(2)Under scanning electron microscope,lentivirus-mediated miRNA-378a macrophages in the positive group proliferated in cell density,had spherical,elliptic and polygonal differentiation,and had more pseudofeet than other groups.(3)Under general observation,the overall 7-day healing was better than that at 4 days.Lentivirus-mediated miRNA-378a macrophages in the positive group healed better than other groups regardless of 4 and 7 days.(4)Lentivirus-mediated miRNA-378a macrophages in the positive group under hematoxylin-eosin staining and MASSON staining had more amounts of fibrocytes,capillaries,fibroblasts,and collagen fiber hyperplasia.(5)Immunohistochemistry showed that lentivirus-mediated miRNA-378a macrophages in the positive group were more positive in 4-and 7-day M2 polarized cells than in other groups.The macrophages of the control and negative groups in 4-and 7-day M2 polarized cells were greater than that of the blank control group.There was no statistical difference between the control group and the negative group.The number of stained cells in the positive,negative,and control groups regardless of 4 and 7 days was higher than that in the blank control group,and the positive group>negative group ≈ control group>blank control group.(6)It is concluded that macrophages with miRNA-378a overexpression have a large amount of fibroblasts,capillaries,fibroblasts,and collagen fiber hyperplasia in vivo,which has a positive effect on tissue repair,and can promote the polarization of macrophages towards M2 type and inhibit the polarization of M1 type,thus contributing to reducing the inflammatory response of the body.