Objective To explore the application value of a novel portable endoscope to perform upper gastrointestinal tract examinations in primary medical units.Methods A total of 532 subjects receiving portable endoscope examination were enrolled for analysis.The primary outcome was the success rate of operation.The secondary outcomes were the operation time,examination results,polyp removal and biopsy pathology results,and the subjective evaluation.Results In 532 cases,2 were withdrawn midway after the endoscope was inserted into the esophagus due to the patients'inability to tolerate the examination.Additionally,6 cases did not undergo examination of the descending part of the duodenum because of serious reactions during the procedure.Ultimately,524 cases successfully completed the upper gastrointestinal examination,and the success rate was 98.5％.The average examination time was(4.7±1.8)min,and the average time for disposal sheath wearing and removing was(4.2±1.4)min.The most common lesions were chronic non-atrophic gastritis(85.1％,451/530),reflux esophagitis(14.7％,78/530)and bile reflux(14.0％,74/530).A total of 10 cases of polyp removal were completed,and the polyp removal rate was 71.4％(10/14).Biopsy pathological diagnosis was completed in 44 cases,and the biopsy rate was 8.3％(44/530).The main discomfort symptoms during the examination were nausea(53.6％,285/532),vomiting(51.1％,272/532),and sore throat(38.5％,205/532),the main discomfort symptoms after the examination were sore throat(27.8％,148/532),nausea(19.5％,104/532),and vomiting(14.7％,78/532).No serious adverse events such as gastrointestinal bleeding,perforation,cardiac or pulmonary complications occurred.Conclusion The novel portable endoscope can safely and effectively complete the diagnosis and treatment of upper gastrointestinal diseases in primary medical units,while saving the decontamination process.However,the incidence of discomfort is high during examinations.Further optimization of the operation methods is needed.

OBJECTIVES: To summarize the clinical manifestations and genetic characteristics of creatine deficiency syndrome (CDS) caused by GAMT gene mutations. METHODS: A retrospective analysis was conducted on the clinical and genetic data of two children diagnosed with GAMT deficiency-type CDS at the Children's Medical Center of Xiangya Hospital, Central South University, from December 2020 to December 2024. RESULTS: The two patients presented with symptoms in infancy, and both had compound heterozygous mutations in the GAMT gene. Case 1 exhibited seizures and intellectual disability, while Case 2 had intellectual disability and attention-deficit hyperactivity disorder. Magnetic resonance spectroscopy of cranial MRI in both patients indicated reduced creatine peaks. After creatine treatment, seizures in Case 1 were controlled, but both patients continued to experience intellectual disabilities and behavioral issues. As of December 2024, a total of 21 cases have been reported in China (including this study), and 115 cases have been reported abroad. All patients exhibited developmental delay or intellectual disabilities, with 66.9% (91/136) experiencing seizures, 33.8% (46/136) presenting with motor disorders, and 36.8% (50/136) having behavioral problems. Seventy-five percent (102/136) of patients received creatine treatment, leading to significant improvements in seizures and motor disorders, although cognitive improvement was not substantial. CONCLUSIONS GAMT deficiency-type CDS is rare and presents with nonspecific clinical features. Timely diagnosis facilitates targeted treatment, which can partially improve prognosis.
Child ; Female ; Humans ; Male ; Creatine/deficiency* ; Guanidinoacetate N-Methyltransferase/deficiency* ; Intellectual Disability/genetics* ; Mutation ; Retrospective Studies ; Rhabdomyolysis/genetics* ; Language Development Disorders ; Movement Disorders/congenital*

Objective To investigate the prevalence of Schistosoma japonicum infections in wild rodents in schistosomiasis-endemic areas of China, so as to provide insights into formulation of technical guidelines for monitoring of and the precise control strategy for S. japonicum infections in wild rodents during the elimination phase. Methods Two administrative villages where schistosomiasis was historically highly prevalent were selected each from Dongzhi County, Anhui Province, and Duchang County, Jiangxi Province as study villages. Wild rodents were captured from study villages with baited traps or cages at night in June and September, 2021. The number of rodents captured was recorded, and the rodent species was characterized based on morphologi-cal characteristics. Liver tissues were sampled from captured rodents for macroscopical observation of the presence of egg granu- lomas, and S. japonicum infection was detected simultaneously using liver tissue homogenate microscopy, examinations of mesenteric tissues for parasites, and modified Kato-Katz thick smear technique (Kato-Katz technique). A positive S. japonicum infection was defined as detection of S. japonicum eggs or adult worms by any of these methods. The rate of wild rodent capture and prevalence of S. japonicum infections in wild rodents were compared in different study villages and at different time periods, and the detection of S. japonicum infections in wild rodents was compared by different assays. Results The overall rate of wild ro- dent capture was 8.28% (237/2 861) in Dongzhi County, and the wild rodent capture rates were 9.24% (133/1 439) and 7.31% (104/1 422) in two study villages (χ² = 3.503, P = 0.061), and were 8.59% (121/1 409) and 7.99% (116/1 452) in June and September, 2021, respectively (χ² = 0.337, P = 0.561). The overall rate of wild rodent capture was 3.72% (77/2 072) in Duchang County, and the wild rodent capture rates were 6.91% (67/970) and 0.91% (10/1 102) in two study villages (χ² = 51.901, P < 0.001), and were 4.13% (39/945) and 3.37% (38/1 127) in June and September, 2021, respectively (χ² = 0.815, P = 0.365). Rattus norvegicus was the predominant rodent species captured in both counties, accounting for 70.04% (166/237) of all captured wild rodents in Dongzhi County and 88.31% (68/77) in Duchang County. No S. japonicum infection was detected in wild rodents captured in Duchang County. Nevertheless, the overall prevalence of S. japonicum infections was 51.05% (121/237) in wild rodents captured in Dongzhi County, with prevalence rates of 50.38% (67/133) and 51.92% (54/104) in two study villages (χ² = 0.098, P = 0.755), and 54.31% (63/116) and 47.93% (58/121) in September and June, 2021, respectively (χ² = 0.964, P = 0.326). Of 237 wild rodents captured in Dongzhi County, there were 140 (59.07%) rodents with visible hepatic egg granulomas, 117 (49.47%) tested positive for S. japonicum eggs by liver tissue homogenate microscopy, 34 (14.35%) tested positive for S. japonicum eggs with Kato-Katz technique; however, no adult S. japonicum worms were detected in mesenteric tissues. In addition, hepatic egg granulomas were found in all wild rodents tested positive for S. japonicum eggs with liver tissue homogenate microscopy. Conclusions The rate of wild rodent capture and prevalence of S. japonicum infection in wild rodents vary greatly in schistosomiasis-endemic areas of China, and the prevalence of S. japonicum infection is slightly higher in wild rodents captured in autumn than in summer. Liver tissue is recommended as the preferred sample for surveillance of S. japonicum infection in wild rodents, and a combination of macroscopical observation of hepatic egg granulomas and liver tissue homogenate microscopy may be a standard method for surveillance of S. japonicum infection in wild rodents.

Aim To explore the protective effect of the isochroman compound Asperisochroman B(AB)on oxygen-glucose deprivation/reoxygenation(OGD/R)injury of neurons based on the PI3K/AKT/Foxo1 path-way and to reveal the related mechanism.Methods Primary neurons were cultured and the OGD/R model was constructed.The primary neurons were divided in-to the blank control group,OGD/R group,and AB low,medium,and high concentration(3,10,30 μmol·L-1)groups.The effects of AB on primary neurons were determined by CCK-8 assay,lactate dehydrogen-ase(LDH)release assay,and Hoechst 33342 stai-ning.The expression levels of PI3K,AKT,and Foxo1-related proteins were detected by Western blot.After intervention with the PI3K inhibitor(LY294002)and re-modeling and intervention with high concentra-tion of AB(30 μmol·L-1),the expression of PI3K/Foxo1 pathway-related proteins was detected by West-ern blot.Results Compared with the OGD/R group,AB could significantly increase the cell survival rate of primary neurons and reduce the release of LDH.The results of Hoechst 33342 and immunofluorescence stai-ning showed that AB reduced apoptosis after OGD/R injury.Western blot results showed that compared with the OGD/R group,after AB intervention,the expres-sion levels of Bcl-2 and NeuN proteins in neurons sig-nificantly increased(P＜0.01),and the expression level of Bax protein significantly decreased(P＜0.01).At the same time,it upregulated the expres-sion levels of p-AKT and PI3K proteins,promoted Foxo1 phosphorylation,and downregulated the expres-sion of Foxo1.Compared with the high-dose AB group,LY294002 could inhibit the changes of the a-bove indicators and reverse the protective effect of AB on OGD/R-injured primary neurons.Conclusions AB can alleviate oxygen-glucose deprivation/reoxygen-ation-induced neuronal injury,and its mechanism may be related to the activation of the PI3K/AKT/Foxo1 signaling pathway.

Aim To identify the underlying target of bullatine A(BA)against rheumatoid arthritis(RA)u-sing limited proteolysis-small molecule mapping(LiP-SMap)drug target proteomics and to provide a scientif-ic basis for clinical application of Aconiti brachypodi Radix in the treatment of RA.Methods LiP-SMap drug target proteomics was employed to perform bioin-formatics analysis for comparing and validating the dif-ferential protein expression after BA intervention.A collagen-induced arthritis(CIA)model was estab-lished in DBA/1 mice using bovine type Ⅱ collagen.The mice were then divided into the CIA model group,methotrexate-positive control group(MTX group),and BA groups(10 mg·kg-1 and 20 mg·kg-1)based on their clinical scores.After drug intervention,the thera-peutic efficacy against RA was assessed by joint index scores and foot thickness measurements.Histopatholog-ical changes in the arthritic joints of CIA mice were e-valuated using hematoxylin and eosin(HE)staining.Enzyme-linked immunosorbent assay(ELISA)was employed to detect inflammatory cytokines interleukin-17(IL-17)and total IgG and IgG3 anti-collagen-spe-cific antibodies levels from the serum of CIA mice.Flow cytometry was used to detect the expression levels of intracellular Th17 cells(IL-17+CD4+T cells)and Th1 cells(IFN-γ+CD4+T cells).Fluorescent quanti-tative PCR was performed to detect the expression of genes related to differential proteins.Results The proteomic analysis identified Serpinb1a as a protein with strong binding affinity to BA,and KEGG enrich-ment analysis indicated IL-17 signaling pathway was a crucial pathway of BA in against RA.BA treatment significantly reduced clinical scores and foot thickness,improved local arthritis symptoms in CIA mice,and al-leviated inflammatory cell infiltration into arthritic joints(P＜0.05).Differential protein validation re-sults showed that BA had strong affinity with Serpinb1a(-5.92 kJ·mol-1)and downregulated the expres-sion of Serpinb1a mRNA.Furthermore,the administra-tion of BA markedly reduced serum IL-17 A levels from CIA mice,inhibited the expression of intracellular IL-17 A and IFN-γ cytokines in splenic CD4+T cells(P＜0.05),and significantly downregulated the transcrip-tional expression of IL-17F(P＜0.05).Conclusion BA exhibits therapeutic effects on collagen-induced arthritis,and its mechanism of action may involve the regulation of Serpinb1a and the IL-17 signaling path-way.

AIM To study the chemical constituents from the stems and barks of Maytenus variabilis(Hemsl.)C.Y.Cheng.METHODS The 95％ethanol extract from the stems and barks of M.variabilis was isolated and purified by silica gel,Sephadex LH-20 and semi preparative HPLC,then the structures of obtained compounds were identified by physicochemical properties and spectral data.RESULTS Twenty-three compounds were isolated and identified as β-amyrin(1),3β-acetoxyolean-12-en-11-one(2),ursa-12-ene-11-one-3-ol octocosate(3),friedelin(4),canophyllol(5),pinoresinol(6),medioresinol(7),isolariciresinol(8),dihydrodehydrodiconiferyl alcohol(9),vanillic acid(10),7R,8S-5-methoxydihydrodehydroconiferyl alcohol(11),β-hydroxypropiovanillone(12),triptregeline B(13),triptregeline E(14),(+)-evofolin B(15),2,5-dimethoxybenzoquinone(16),olean-12-ene-3,11-dione(17),β-sitosterol(18),(-)-(7R,7'R,7"S,8S,8'S,8"S)-4',4"-dihydroxy-3,3',3",5-tetramethoxy-7,9',7',9-diepoxy-4,8"-oxy-8,8'-sesquineolignan-7",9"-diol(19),phyllostadimer B(20),rayalinol(21),lyoniresinol(22),dihydrobuddlenol B(23).CONCLUSION Compounds 3,9-11,13-14,16,19-21,23 are isolated from genus Maytenus for the first time,and compounds 2,4-5,7-8,12,15,17,22 are first found from this plant.

Objective:To investigate the clinicopathological and molecular genetic features of high-grade astrocytomas with piloid features (HGAP).Methods:Clinical, histopathological and imaging data of 7 cases of HGAP diagnosed at the Neuropathology Center of Beijing Tiantan Hospital, Beijing, China from August 2023 to October 2024 were collected. The histopathological and molecular features for each case were analyzed.Results:Among the seven patients there were 4 males and 3 females, with the median age of 37 (34, 51) years. Patients exhibited various clinical symptoms and signs depending on the tumor′s location. Four tumors were located in the cerebellum, 2 in the supratentorial region, and 1 in the spinal cord. Magnetic resonance imaging showed that 6 of the 7 patients had cystic and solid lesions, with focal or nodular enhancement and relatively unclear boundaries. Histopathological features had a diverse morphological spectrum and extensive grading. Five cases displayed a pilocytic astrocytoma-like appearance with infiltrative growth patterns, while two cases presented glioblastoma-like morphology, containing locally anaplastic pleomorphic xanthoastrocytoma with minor pilocytic components. All tumors were diffusely positive for GFAP and Olig2, while 4 tumors exhibited partial or complete loss of ATRX. The Ki-67 proliferation index ranged from 2% to 40%. Next-generation sequencing showed that tumor cells most commonly harbored MAPK pathway gene mutations, and/or homozygous deletions of CDKN2A/B, and/or ATRX mutations. Among the 7 HGAP models, 3 cases showed the three types of molecular genetic variations, 1 case showed MAPK mutations and homozygous deletions of CDKN2A/B, 1 case had MAPK mutations and ATRX mutations, 1 case had only MAPK mutations, and 1 case showed no detectable molecular changes. DNA methylation clustering analyses showed that the median model prediction score was 0.94 (range, 0.85-0.99) for the 7 HGAP models. Five cases showed the MGMT promoter hypermethylation. Four patients received radiotherapy and concomitant temozolomide treatment after surgery, while three patients received no known treatments. At the last follow-up, seven patients were alive without any tumor, two patients had recurrence, and one patient was alive with the tumor.Conclusions:HGAP is relatively rare and predominantly occurs in adults. It has a wide histopathological spectrum and various histological grades, characterized by piloid astrocytoma-like and glioblastoma-like histological features. Its diagnosis relies on methylation clustering analysis. Most tumors harbor gene alterations in the MAPK signaling pathway, along with homozygous deletions of CDKN2A/B or ATRX mutations. The biological behavior is typically aggressive, while imaging and histological findings can be misleading. Therefore, clinicians need to increase their diagnostic awareness of this tumor and prevent missed diagnoses.

Objective:To explore the therapeutic efficacy and prognostic factors of combined rituximab and intensive chemotherapy for sporadic adult Burkitt lymphoma (BL) .Methods:This retrospective study examined the clinical and survival data of 30 patients newly diagnosed with BL between July 2011 and February 2023 at the Blood Diseases Hospital. Kaplan-Meier method was used for survival analysis, and the log-rank test was used for univariate analysis of prognostic factors.Results:The median age of the 30 patients was 43 years (24 - 66 years), and the male to female ratio was 3: 2. Extranodal invasion was present in 80% of the patients, with involvement of the bone marrow in 53.3% and central nervous system in 10.0%. The Ann Arbor stage was Ⅲ and Ⅳ in 86.7%. According to the number of Burkitt Lymphoma International Prognostic Index (BL-IPI) risk factors, patients were classified as low risk (0) in 20.0%, intermediate risk (1) in 43.3%, and high risk (≥2) in 36.7%. All patients were treated with an induction regimen of rituximab combined with intensive chemotherapy, with objective and complete response rates of 80.0% and 76.7%, respectively. The median follow-up was 49 months (6-153 months), and the 5-year progression-free survival (PFS) and overall survival (OS) rates were both (76.7±7.7) %. All patients with limited stage ( n=4) achieved continuous complete remission (CCR). Patients who had high risk, advanced stage sensitive to induction therapy ( n=10) sequentially received first-line autologous hematopoietic stem cell transplantation (auto-HSCT) as consolidation therapy; 9 patients achieved CCR, whereas 1 patient with central nervous system invasion developed early disease progression and died. The BL-IPI low, intermediate, and high risk groups had respective 5-year PFS rates of (83.3±15.2) %, 100.0%, and (45.5±15.0) % ( P=0.0069) and OS rates of (83.3±15.2) %, 100.0%, and (45.5±15.0) % ( P=0.0075). The main adverse effects of induction therapy were myelosuppression and secondary infections, which were effectively managed by appropriate symptomatic treatment. Univariate analysis demonstrated that worse PFS was associated with BL-IPI score ≥2 ( HR=4.90, 95% CI 1.02-23.45, P=0.0329) ; extranodal invasion at ≥2 sites ( HR=12.62, 95% CI 2.59-61.62, P=0.0021) ; and failure to achieve first complete response (CR1) after induction therapy ( HR=31.86, 95% CI 4.19-242.20, P<0.0001) . Conclusions:Intensive immunochemotherapy regimens were effective and well-tolerated by adult patients with highly aggressive BL. Treatment efficacy was ideal in patients with limited-stage disease, whereas prognosis was unsatisfactory in patients with high-risk BL-IPI. Sequential first-line auto-HSCT consolidation therapy may further improve outcomes in patients with high-risk advanced-stage disease who are sensitive to induction therapy. BL-IPI score ≥2, extranodal invasion at ≥2 sites, and failure to achieve CR1 after induction therapy were adverse prognostic factors in adult patients with BL.

Objective:To excplore the risk factors for myocardial damage in patients with systemic lupus erythematosus (SLE) and the value of application of resting gated nuclear myocardial imaging.Methods:A total of 64 lupus patients who were hospitalized in Wuxi People′s Hospital from January 2021 to December 2022 were included, and the patients′ clinical data, imaging data, and test reports were retrospectively analyzed using paired χ2 test, t test, Wilcoxon rank-sum test, Mann-Whitney U test, and binary logistic regression analysis. Results:①Among the 64 patients with lupus, 19(29.7%) had abnormal radionuclide myocardial imaging, 23 (35.9%) had elevated BNP, and 6 (9.4%) had myocardial involvement on echocardiography. There was no statistical difference between radionuclide myocardial imaging and BNP ( Kappa=0.294, P=0.503), but there was a significant difference between radionuclide myocardial imaging and echocardiography ( Kappa=0.394, P<0.001). ②There was no statistical difference in the EF values measured by resting gated myocardial radionuclide imaging and echocardiography [(64.9±9.6)% vs. (63.2±5.6)%, Z=-1.73, P=0.083]. ③Compared with the normal myocardial group, the myocardial damage group had higher BNP value [(912±1729)pg/ml vs. (297±572)pg/ml, t=-3.05, P=0.002], ESR[(56±42)mm/1 h vs. (34±27)mm/1 h, t=-2.17, P=0.030], and SDI scores[2.16±1.30 vs. 1.04±0.85, t=-3.43, P=0.002], more patients with a course of disease≥10 years [57.9% vs. 28.9%, Z=2.17, P=0.030], and anti-U1RNP antibody[52.6% 24.4%, Z=-2.18, P=0.029] and anti-SSB antibody[31.6% vs. 11.1% Z=-1.97, P=0.049] were statistically different. ④Through binary logistic regression analysis, SDI score [ OR ( 95%CI)=2.444 (1.195, 4.998), P=0.014], anti-U1RNP antibody [ OR ( 95%CI)=4.569 (1.036, 20.150), P=0.045] and disease duration≥10 years [ OR ( 95%CI)=5.218 (1.210, 22.496), P=0.027] were independent risk factors for myocardial damage in SLE patients. Conclusion:Resting gated radionuclide myocardial imaging can accurately provide ventricular motion parameters and can detect myocardial damage in SLE patients at early stage. Disease duration ≥10 years, high SDI score, and positive anti-U1RNP antibodies are independent risk factors for myocardial damage in SLE patients.

AIM:This study aims to investigate the therapeutic impact of bone marrow mesenchymal stem cell(MSC)-derived exosomes(MSC-Exos)on septic lung injury by targeting Toll-like receptor 4(TLR4)/nuclear factor-κB(NF-κB)signaling pathway.METHODS:MSC-Exos were isolated from bone marrow MSCs using ultracentrifugation.The exosomes were characterized by transmission electron microscopy(TEM),nanoparticle tracking analysis(NTA),and Western blot.A septic lung injury model was established via cecal ligation and puncture(CLP).MSC-Exos were adminis-tered intraperitoneally 3 h after CLP.Blood and lung tissue samples were collected at 6,12,24,and 72 h after CLP.Con-centrations of interleukin-10(IL-10),IL-6,IL-1β,and tumor necrosis factor-α(TNF-α)were measured by ELISA.The lung tissue damage in mice was assessed by HE staining.Expression levels of TLR4 and NF-κB were detected by RT-qP-CR and Western blot.RESULTS:The results of TEM revealed typical round and oval exosome-like structures of MSC-Exos.Western blot showed positive expression of CD63,TSG101 and HSP-70.The results of NTA indicated that the parti-cle size of MSC-Exos was(107.5±16.6)nm.Septic lung injury began to manifest 12 h after CLP and progressively worsened,peaking at 72 h after CLP.At 6 h after CLP,the level of TNF-α was markedly elevated compared to the control group,reaching its peak at 72 h after CLP.At 12 h after CLP,the levels of IL-1β,IL-10,and IL-6 were elevated com-pared to the control group,and they reached their maximum point 72 h post-CLP.The MSC-Exos intervention group ex-hibited significantly reduced lung injury compared to the CLP group,as indicated by the lung pathology scoring.In the MSC-Exos intervention group,concentrations of IL-10,IL-1β,IL-6,and TNF-α peaked at 12 h after CLP,gradually de-clined,and returned to baseline levels by 72 h.TLR4 and NF-κB expression levels were significantly increased at 6 h af-ter CLP in the CLP group,peaking at 72 h.In contrast,MSC-Exos treatment normalized TLR4 and NF-κB expression levels at 72 h after CLP.CONCLUSION:Early intervention with bone marrow MSC-Exos significantly alleviated septic lung injury by reducing the inflammatory cytokine storm,likely through downregulation of the TLR4/NF-κB signaling path-way.