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

This paper summarizes Professor SHI Zaixiang's clinical experience in treating high fever caused by sepsis using Chaihu Guizhi Ganjiang Decoction （柴胡桂枝干姜汤）. He holds that the key pathogenesis of sepsis involves constrained heat in the shaoyang and internal accumulation of water and fluids. The clinical manifestations such as high fever， chills， and alternating sensations of cold and heat are attributed to pathogenic heat constrained in the shaoyang. Meanwhile， soft tissue edema and serous cavity effusions are due to shaoyang dysfunction and internal water retention. In clinical practice， treating sepsis-related high fever requires addressing both the shaoyang-constrained heat and the associated edema and effusions. The therapeutic approach focuses on harmonizing the shaoyang and resolving internal fluids， using Chaihu Guizhi Ganjiang Decoction as the base formula with flexible modifications. Professor SHI emphasizes that this formula shows a rapid antipyretic effect， particularly in cases where multiple anti-infective treatments have failed.

Metabolic dysfunction-associated steatotic liver disease (MASLD) is the most common chronic liver disease with high global prevalence and long course, which affects more than 30% of the population and seriously endangers human health. Lipid metabolism plays an important role in the occurrence and development of MASLD. An increasing number of studies have shown that active ingredients in traditional Chinese medicine can regulate lipid metabolism to improve MASLD. Due to the obvious advantages of multi-target regulation and fewer side effects, the active ingredients have shown great potential and value for application. However, the pathological mechanism of MASLD is intricate and the active ingredients of traditional Chinese medicine can improve MASLD from multiple aspects, there is currently a lack of systematic discussion on lipid metabolism. Therefore, this review focuses on lipid metabolism and reviews the latest research progress of active ingredients from traditional Chinese medicine in ameliorating MASLD from the aspects of lipid uptake, lipid synthesis, lipid oxidation, lipid secretion, etc., in order to provide more theoretical references for active ingredients of traditional Chinese medicine in regulating lipid metabolism to improve MASLD.

Objective To screen and analyze the differentially expressed genes (DEGs) related to oxidative stress in a silicosis mouse model using transcriptome sequencing technology. Methods i) A total of 30 workers without occupational dust-exposed history were selected as the control group and 17 patients with silicosis were selected as the silicosis group using a judgment sampling method. The levels of glutathione and malondialdehyde in the plasma of workers in the two groups were determined by enzyme-linked immunosorbent assay. ii) RAW264.7 cells in the logarithmic growth phase were randomly divided into the control group and the silica group, treated with 0 and 50 mg/L silica suspensions for 24 hours. Protein expression of superoxide dismutase 2 (SOD2), interleukin-6 (IL-6), and tumor necrosis factor-α (TNF-α) in the cells was determined by Western blotting. iii) The specific pathogen free male C57BL/6 mice were randomly divided into the control group and the silicosis model group, with 10 mice in each group. Mice were exposed to 50 μL of 0.9% sodium chloride solution and silica suspension at a mass concentration of 100 g/L, respectively, using a single tracheal exposure method. After 28 days of exposure, the pathological changes of mouse lung tissues were observed. Transcriptome sequencing was used to screen DEGs in the lung tissues of the silicosis mouse model, and gene ontology (GO) and Kyoto Encyclopedia of Genes and Genomes (KEGG) enrichment analyses were performed. The expression of DEGs was verified using quantitative real-time polymerase chain reaction (qPCR). Results i) The level of malondialdehyde in the patients′ plasma was higher (P<0.01), while the level of glutathione was lower (P<0.01) in the silicosis group than that of the control group. ii) The relative expression of SOD2 protein decreased (P<0.05), while the relative expression of IL-6 and TNF-α proteins increased (all P<0.05) in the silica group of RAW264.7 cells compared with the control group. iii) The pathological results of lung tissues showed that the alveolar structure of mice was destroyed and silicotic nodules were formed in the silicosis model group. Transcriptome sequencing identified 3 703 DEGs, of which 3 199 were significantly down-regulated and 504 were significantly up-regulated. The GO enrichment analysis results showed that the DEGs were significantly enriched in biological processes such as oxidative stress, inflammation, immunity and hypoxia, with cellular components mainly located in membranes, cytoplasm, and nucleus. Molecular functions were enriched in oxidoreductase activity, protein binding, and adenosine triphosphate binding. The KEGG enrichment analysis results showed that the DEGs were mainly involved in the phosphatidylinositol 3-kinase-protein kinase B signaling pathway, cyclic adenosine monophosphate signaling pathway, chemokine signaling pathway, and apoptosis signaling pathway. A total of 28 DEGs involved in the "oxidative stress response" pathway were screened by GO enrichment analysis. The qPCR verification results showed that the relative expression of DEGs carbonic anhydrase 3 (Car3), matrix metalloproteinase 9 (Mmp9), and MutY DNA glycosylase (Mutyh) involved in the "oxidative stress response" of lung tissues in the silicosis model group were lower than those of the control group (all P<0.05). Conclusion Oxidative stress response exists in silicosis patients. The oxidative stress-related genes Car3, Mmp9, and Mutyh are altered in the mouse lung tissues of the silicosis model through the oxidative stress pathway, suggesting that they could be new targets for the treatment of silicosis.

Objective:To evaluate the efficacy and safety of θ short burst rapid pulse stimulation(TBS)in treating schizophrenia by meta-analysis.Methods:Randomized controlled trials(RCTS)on TBS in the treatment of schizophrenia were searched from CNKI,Wanfang,VIP,China Biomedicine,Web of science,PubMed,Embase and Cochrane Library databases to December 2022.The main study indicator was the Positive and Negative Symptoms Scale(PANSS).Risk quality assessment of the included literatures was performed by two reviewers and statistical analysis was performed using RevMan5.3.Results:A total of 13 RCTS with 641 patients were included.Meta-anal-ysis showed that TBS targeting the left dorsolateral prefrontal cortex(DLPFC)with intervention duration longer than 2 weeks decreased the PANSS total scores(WMD=-4.63,95％CI:-5.75--3.51,P＜0.001),positive symptom scores(WMD=-1.13,95％CI:-2.00--0.26,P＜0.05),negative symptom scores(WMD=-2.51,95％CI:-2.77--1.53,P＜0.001)and general psychopathological symptom scores(WMD=-1.20,95％CI:-1.80--0.60,P＜0.001).The adverse reactions of TBS included dizziness,and no serious adverse e-vents were reported.Conclusion:TBS has high safety,and stimulation of left dorsolateral prefrontal cortex targets for more than 2 weeks could effectively improve psychiatric symptoms in patients with schizophrenia.

OBJECTIVE: To investigate the correlation between plasma cytokine levels and liver functions in patients with occupational medicamentosa-like dermatitis due to trichloroethylene(OMDT). METHODS: A total of 22 OMDT patients were selected as research subjects using judgment sampling method. Blood samples were collected from patients on the 1 st, 2 nd, 3 rd, 4 th, and 5 th week of admission and the day of hospital discharge. The automatic biochemical instrument was used for detecting the index of serum liver function. The levels of cytokines including tumor necrosis factor-α(TNF-α), interferon-γ(IFN-γ), interleukin(IL)-5, IL-6, and IL-10 in plasma were measured by enzyme-linked immunosorbent assay. The Spearman correlation analysis was performed to analyze the correlation between cytokines and liver function in 15 patients with exfoliative dermatitis. RESULTS: The levels of alanine aminotransferase(ALT), aspartate aminotransferase(AST), total bilirubin(TBIL), direct bilirubin(DBIL), glutamyl transpeptidase(GGT), and total bile acid(TBA) of OMDT patients on the 1 st week of admission increased(P<0.05), while total protein(TP) and albumin(ALB) decreased(P<0.05) compared with the results at discharge(a stage of recovery). The correlation analysis results of patients with exfoliative dermatitis showed that: the levels of TNF-α, IFN-γ and IL-6 were negatively correlated with the levels of TP and ALB respectively(P<0.05), the level of IL-5 was negatively correlated with TBIL(P<0.05), and the level of IL-10 was negatively correlated with ALB(P<0.05) in the 1 st week. The level of IL-6 was positively correlated with ALT(P<0.05) in the 2 nd week. The level of TNF-α was positively correlated with TBIL(P<0.05), the level of IL-10 was positively correlated with AST(P<0.05) in the 3 rd week. The levels of TNF-α and IL-10 were positively correlated with AST and ALT respectively(P<0.05), the level of IFN-γ was positively correlated with AST(P<0.05) in the 4 th week. The levels of IL-6 and IL-10 were positively correlated with ALT and GGT(P<0.05), and the levels of TNF-α and IFN-γ were positively correlated with AST(P<0.05) in the 5 th week. The level of TNF-α was negatively correlated with DBIL(P<0.05) and was positively correlated with TBA(P<0.05) at discharge.CONCLUSION:s Patients with OMDT are frequently accompanied with severe liver function damage at the early stage. The level of plasma cytokines(TNF-α, IFN-γ, IL-6 and IL-10) might correlate with the severity of liver dysfunction.

OBJECTIVE: To analysis the dynamic change of cytokines in patients with occupational trichloroethylene-induced medicamentosa-like dermatitis(OMDT) at the initial stage of treatment. METHODS: Twenty-two cases of early onset OMDT with no glucocorticoid treatment history were selected as the research subjects by judgment sampling method. Blood samples were collected on the 1 st, 2 nd, 3 rd, 4 th and 5 th weeks after admission and on the day of hospital discharge. The levels of tumor necrosis factor-α(TNF-α), interferon-γ(IFN-γ), interleukin(IL)-5, IL-6 and IL-10 in plasma samples were measured by the enzyme linked immunosorbent assay. RESULTS: The five cytokines in patients with exfoliative dermatitis showed an increasing trend at the initial stage of treatment. Among them, the levels of TNF-α, IL-5 and IL-10 reached a peak and then dropped rapidly to form a plateau, and the levels of IFN-γ and IL-6 were slightly increased and the duration of increase was shorter than that of other cytokines. The levels of TNF-α, IFN-γ, IL-5 and IL-6 in patients with erythema multiforme remained within the detection limits in the detection process. Only a few patients showed a short-term increase, the IL-10 level showed a slight increase at the initial stage and then decreased to the plateau stage. The levels of TNF-α, IFN-γ and IL-6 in patients with bullous epidermal necrolysis increased rapidly at the initial detection stage for a short period of time, and then decreased sharply. The level of IL-5 remained at the detection limit, and the IL-10 level showed alternative rising and falling pattern. Part of the dynamic change of cytokines in patients with exfoliative dermatitis and bullous epidermal necrolysis was similar. CONCLUSION: The levels of TNF-α, IFN-γ, IL-5, IL-6, and IL-10 in OMDT patients changed with the progression of the disease at the early treatment stage, and the degree of change was related to the type of rash. Among them, the levels of TNF-α and IL-10 showed dynamic changes due to the progression of the disease, which could be considered as effect biomarkers to evaluate the severity and progression of the disease, and provide a reference for the rational treatment of patients.

Objective:To evaluate dynamic changes of functional status in elderly emergency inpatients by using the interRAI Acute Care for Comprehensive Geriatric Assessment(interRAI AC-CGA), and to analyze whether assessment results are helpful for clinical decision-making.Methods:Elderly patients(aged 60 years and older)who were hospitalized in the Acute Care Unit of PLA General Hospital from October 2017 to March 2018 were included.Each patient received the interRAI AC-CGA instrument-based assessment at admission(day 1), on day 7 and day 28 after admission.Analysis of collected data was conducted using interRAI AC-CGA scales, geriatric syndrome screening and risk identification of adverse outcomes, in order to examine dynamic changes of functional status in patients at and after admission and to explore the relationship between functional status at admission and outcomes(at discharge).Results:Thirty-four patients were evaluated, including 26 males and 8 females, aged from 60 to 101 years, with a mean age of(84.2±10.1)years.Patients had a variety of functional abnormalities at admission and during hospitalization, in which the ability to perform activities of daily living(ADL)and instrumental activities of daily living(IADL)decreased significantly.Compared with evaluation results on day 1, the incidences of functional abnormalities on day 7 and day 28 declined, and there was improvement in transient depression, pain and falls( χ2=6.298, 6.027 and 7.766, P=0.043, 0.049 and 0.021). After evaluation on day 28, 16 patients were discharged and 18 remained hospitalized(including 2 deaths). The rate for most abnormality was lower in the discharge group than in the continued hospitalization group, and the rates for abnormal communication and falls were lower in the discharge group than in the continued hospitalization group( χ2=6.349 and 5.443, P=0.019 and 0.030). Age(≥85 years old)had no effect on discharge.There was no significant difference in hospital discharge rate between the advanced age group(≥85 years old)and the elderly group(60-84 years old)(40.0% or 8/20 vs.57.1% or 8/14, χ2=0.971, P=0.324). Conclusions:The interRAI AC-CGA instrument can systematically and dynamically estimate functional changes in elderly emergency inpatients.Functional status at admission is related to prognosis(performance at discharge)of patients.

Objective:To investigate the proportion of helper T lymphocytes 22(Th22) and levels of interleukin(IL)-22 in peripheral blood of children with juvenile idiopathic arthritis (JIA), and analyze their relevance with JIA-related inflammatory cytokines.Methods:A total of 30 children with JIA who received treatment at the Department of Rheumatology, the Affiliated Children′s of Capital Institute of Pediatrics from November 2018 to December 2019 were enrolled as JIA group, and 12 healthy children at the same age were selected as healthy control group.The percen-tage of Th22 cells in peripheral blood was detected using flow cytometry.Concentrations of IL-22, IL-6, tumor necrosis factor(TNF-α), IL-17 and IL-10 were measured by enzyme-linked immunosorbent assay.Statistical analysis of the relevance of Th22 cells, IL-22 levels and inflammatory cytokines levels of IL-6, TNF-α, IL-17 and IL-10 in JIA were performed by Pearson test. Results:The proportion of Th22 cells in peripheral blood of patients in JIA group[(0.94±0.26)%] was higher than that of the healthy control group [(0.46±0.29)%], and the difference was statistically significant ( t=2.227, P<0.05). Plasma level of IL-22 of patients in JIA group[(185.2±11.93) ng/L] was significantly higher than that of healthy control group[(114.7±6.29) ng/L], and the difference was statistically significant ( t=3.632, P<0.001). The proportion of Th22 cells and the levels of plasma IL-22 in JIA patients were positively correlated with plasma levels of IL-6 (Th22: r=0.501, IL-22: r=0.573, all P<0.01), IL-17 (Th22: r=0.686, P<0.001; IL-22: r=0.445, P<0.01) and IL-10 (Th22: r=0.609, IL-22: r=0.284, all P<0.001). There was no relationship for Th22 cells and plasma levels of IL-22 with TNF-α. Conclusions:The proportion of Th22 cells and plasma levels of IL-22 significantly increase in peripheral blood of JIA patients and correlated with JIA-related inflammatory cytokines, which may play a potential role in the pathogenesis of JIA disease.

Objective:To study the role of serum E-selectin and P-selectin in pathogenesis of severe Mycoplasma pneumonia pneumonia(MPP), and to evaluate their value in early clinical recognition of severe MPP.Methods:The clinical data of 87 MPP patients in the Respiratory Ward of Capital Institute of Pediatrics Children′s Hospital between December 2017 and October 2018 were collected.Children were divided into the mild group(37 cases)and the severe group (50 cases) according to the severity of the disease.There were 20 males and 17 females in the mild group, with the age of (7.62±2.02) years.There were 17 males and 33 females in the severe group, with the of (6.97±2.41) years.Serum E-selectin, P-selectin and related inflammatory indicators were measured and compared between the two groups, and their correlation with severe MPP was analyzed.The receiver operating characteristic curve (ROC) analysis was also conducted.Results:The length of stay [(8.46±2.53) d vs.(5.19±1.20) d, P<0.001], C-reactive protein(CRP)[(23.05±37.05) mg/L vs.(15.06±13.79) mg/L, P=0.001], lactate dehydrogenase(LDH)[(342.50±186.00) U/L vs.(284.44±64.82) U/L, P<0.001], procalcitonin(PCT)[(0.19±0.26) μg/L vs.(0.15±0.14) μg/L, P=0.012], serum ferritin(SF)[(197.33±429.43) μg/L vs.(124.60±66.30) μg/L, P<0.001], D-Dimer [(539.00±576.00) μg/L vs.(226.00±170.50) μg/L, P<0.001], E-selectin [(2.36±4.22) μg/L vs.(0.86±0.20) μg/L, P<0.001] and P-selectin [(4.15±4.40)μg/L vs.(1.72±1.22) μg/L, P<0.001] in the severe group were significantly higher than those in the mild group.There was no statistical difference in the white blood cell (WBC) and erythrocyte sedimentation rate(ESR). CRP, LDH, SF, D-Dimer, E-selectin and P-selectin were statistically correlated with severe MPP(all P<0.05), while WBC, PCT and ESR were not statistically correlated with severe MPP.The areas under ROC of CRP, LDH, SF, D-Dimer, E-selectin and P-selectin were all greater than 0.5, and the area under ROC of E-selectin was the largest, followed by that of P-selectin(both>0.8). Conclusions:Severe MPP may lead to excessive inflammatory reactions in the body.E-selectin and P-selectin possibly play an important role in this process, and can act as good indicators for early recognition of severe MPP.