Objective:To summarize the clinical features and pathological changes of peripheral tissues from patients with neuronal intranuclear inclusion disease (NIID) diagnosed by genetic tests.Methods:Repeat-primed polymerase chain reaction was used to confirm the GGC repeated expansion in the 5′ untranslated region of the NOTCH2NLC gene in patients with suspected NIID who had visited the Department of Neurology of Peking University First Hospital from January 2018 to February 2020. The clinical data and pathological changes of peripheral tissues from patients with genetically diagnosed NIID were collected retrospectively and analysed. Immunostaining with anti-p62 and anti-ubiquitin antibody was performed on peripheral biopsy specimens.Results:Totally nine patients with NIID who had GGC repeated expansion in the NOTCH2NLC gene were found. Five patients were familial (from three faimilies), and four patients were sporadic. The age of onset was 36-61(51.33±7.12) years. The most common symptoms in this NIID group were episodic emotion and personality change (8/9), paroxysmal disturbance of consciousness (6/9) and intermitant head discomfort (6/9). Other symptoms included cognitive dysfunction, limb weakness, limb sensory disturbance, bladder dysfunction, ataxia, seizures and psychiatric symptoms. Brain magnetic resonance imaging showed high signals along the corticomedullary junction on diffusion-weighted image in eight out of nine patients. Skin biopsied samples from nine patients demonstrated the presence of eosinophilic intranuclear inclusions (IIs), appearing in the nucleus of fibroblasts, fat cells and ductal epithelial cells of sweat glands on hematoxylin-eosin staining. IIs were positive on anti-p62 and anti-ubiquitin immunostaining. Electron microscopy indicated the IIs were composed of a pile of filament materials without membrane. Muscle biopsies from two patients showed no obvious neurogenic or myogenic pathologic changes, except in one patient several rimmed vacuoles fibers were found. In one patient sural nerve biopsy showed severe demyelinating pathological changes. No IIs were found in the muscles and peripheral nerve tissue either by histological examination or by immunohistochemical staining with anti-p62 or anti-ubiquitin, while IIs were found by immunofluorescence staining with both anti-p62 and anti-ubiquitin in three patient′s tissue. Conclusions:The phenotype of this NIID patient group is adult-onset NIID, with episodic encephalopathy as the main clinical manifestation. Skin biopsy has high pathological diagnostic value for NIID. The immunofluorescence staining with anti-p62 and anti-ubiquitin is easier to detect the presence of IIs than histological staining and immumohistochemical staining.

Objective:To compare the diagnostic efficacy of 68Ga-prostate specific membrane antigen (PSMA)-11 PET/CT and 18F-fluorodeoxyglucose (FDG) PET/CT in TNM staging before radical prostatectomy. Methods:From July 2018 to December 2019, a total of 67 patients ((67.5±6.8) years) with prostate cancer diagnosed pathologically by radical surgery in Renji Hospital, School of Medicine, Shanghai Jiao Tong University were retrospectively enrolled. All patients underwent 68Ga-PSMA-11 PET/CT and 18F-FDG PET/CT whole-body scans before surgery. Results of PET/CT were compared with pathological diagnosis after surgery to compare the diagnostic efficiencies of 68Ga-PSMA-11 PET/CT and 18F-FDG PET/CT for preoperative TNM staging ( χ2 test). The differences of the maximum standardized uptake value (SUV max) in primary lesions between 2 imaging methods were compared by Mann-Whitney U test. Patients were divided into low-risk, intermediate-risk and high-risk for stratified analysis. Results:Among 67 patients, 9 were with low-risk, 19 were with intermediate-risk, 39 were with high-risk. For T staging, 59 (88.06%, 59/67) patients showed positive results by 68Ga-PSMA-11 PET/CT imaging, with median SUV max of 13.80(7.30, 22.40) for 67 patients; 31(46.27%, 31/67) patients showed positive results in 18F-FDG PET/CT imaging, with median SUV max of 4.00(3.10, 5.60) ( U=62, P<0.05). Stratifed analysis showed that the detection rate of 68Ga-PSMA-11 PET/CT was higher than that of 18F-FDG PET/CT in intermediate-risk patients (17/19 vs 6/19; χ2=4.920, P<0.05). Among 67 patients, 10 were diagnosed as N1 stage based on the pathological results. The sensitivities, specificities, accuracies, positive predictive values and negative predictive values of 68Ga-PSMA-11 PET/CT and 18F-FDG PET/CT for detecting positive regional lymph nodes were 6/10, 87.72%(50/57), 83.58%(56/67), 6/13, 92.59%(50/54) and 4/10, 89.47%(51/57), 82.09%(55/67), 4/10, 89.47%(51/57), respectively. 68Ga-PSMA-11 PET/CT detected 15 patients (22.39%, 15/67) with M1 stage, and 18F-FDG PET/CT identified 9 patients (13.43%, 9/67; χ2=35.436, P<0.05). Conclusions:As for T staging, the detection rate of 68Ga-PSMA-11 PET/CT in the intermediate-risk group is better than 18F-FDG PET/CT. In N and M staging, the detection rates of 68Ga-PSMA-11 PET/CT are higher than those of 18F-FDG PET/CT.

Objective:To evaluate the accuracy of diffusion weighted magnetic resonance imaging (DWI-MRI) combined with high resolution temporal bone CT (HRCT) in the location diagnosis of middle ear cholesteatoma and its value in the postoperative follow-up.Methods:134 patients with inital cholesteatoma and 22 patients with suspected recurrent cholesteatoma were selected for HRCT, conventional MRI and DWI examination. Based on the intraoperative and pathological diagnosis, DWI and HRCT images were combined to evaluate the consistency between the lesion location and invasion area of the initial cholesteatoma and intraoperative lesions. The results of HRCT and DWI in the diagnosis of recurrent middle ear cholesteatoma were statistically analyzed to evaluate their diagnostic efficacy.Results:The accuracy rate of DWI combined with HRCT was 90.3%.The sensitivity, specificity, positive predictive value and negative predictive value of HRCT and DWI in the diagnosis of recurrent middle ear cholesteatoma were 27.8%, 75.0%, 83.3%, 18.8% and 100%, 75.0%, 94.7% and 100%, respectively, and the Kappa values consistent with the pathological results were 0.024 and 0.843, respectively. Chi-square test confirmed that there were differences in the diagnosis between groups ( P<0.001). Conclusions:Combined with the high sensitivity of DWI and the high resolution of HRCT, the accuracy of preoperative positioning of the newly diagnosed cholesteatoma can be improved and surgery strategy can be guided. DWI is also of high diagnostic value for recurrent cholesteatoma in the middle ear.

Objective:To evaluate the detection rate and distribution characteristics of lesions in patients with biochemical recurrence (BCR) after radical prostatectomy for prostate cancer by 68Ga-prostate specific membrane antigen (PSMA)-11 PET/CT. Methods:From January 2020 to March 2024, 68Ga-PSMA-11 PET/CT examination results of 172 patients (age (69.4±6.5) years) with BCR after radical prostatectomy in Renji Hospital Affiliated to Shanghai Jiao Tong University School of Medicine were retrospectively analyzed. The relationship between prostate specific antigen (PSA) levels and 68Ga-PSMA-11 PET/CT detection rate was explored. The location and quantity of lesions detected by 68Ga-PSMA-11 PET/CT were analyzed in BCR patients with clear location after local treatment, and data were analyzed by Fisher exact test. Results:The detection rate of 68Ga-PSMA-11 PET/CT in patients with BCR was 70.35%(121/172). The positive detection rate increased with the increase of PSA level, with detection rates of 0.2 μg/L≤PSA<0.5 μg/L, 0.5 μg/L≤PSA<1.0 μg/L, 1.0 μg/L≤PSA<1.5 μg/L and PSA≥1.5 μg/L groups of 49.12%(28/57), 67.24%(39/58), 15/16 and 95.12%(39/41), respectively. After local treatment, 64 cases were diagnosed with 95 recurrent and metastatic lesions. Among them, 22(34.38%) had simple prostate bed recurrence, 23(35.94%) had simple lymph node metastasis, 7(10.94%) had simple bone metastasis, and 12(18.75%) had multi regional metastasis. The proportion of bone metastasis (18.75%, 12/64) was significantly lower than that of prostate bed recurrence and lymph node metastasis (both 50.00%(32/64); both P=0.002). Conclusions:68Ga-PSMA-11 PET/CT has a high detection rate in patients with BCR after radical prostatectomy, especially in patients with high PSA levels. The lesions are mainly distributed in the prostate bed and lymph nodes, while bone metastases are relatively rare, which provide a theoretical basis for the selection of more accurate treatment plans for BCR patients in the future.

Objective:To study the epidemic and etiologic characteristics of influenza virus(Flu)and respiratory syncytial virus (RSV) infections in outpatient influenza-like illness(ILI)cases of children under 10 years of age in Gansu province in 2018 And to provide evidences for diagnosis, treatment, control and prevention of Flu and RSV infections in Gansu province.Methods:A total of 8 559 pharyngeal swab samples of ILI outpatients cases were tested with real-time fluorescent PCR to detect Flu, 3 436 of which were detected by RT-PCR for RSV.Results:Of the 8559 specimens, 934 (10.91%) samples were positive for Flu. Among them, 431 were positive for H1N1, 70 were positive for H3N2, 428 were positive for Flu B, 5 were mixed; 320 of the 3436 (9.31%, ) samples were positive for RSV. There were significant differences in the positive rates of Flu and RSV among 14 cities and prefectures ( χ2=56.99, χ2=263.34, Р< 0.01). Influenza reached its peak in January 2018 with a positive rate of 50.70%. Flu B/Yamagata strain (53.53%) and A H1N1 (39.93%) were prevalent simultaneously. The peak of RSV epidemic was from February to April, the positive rate was 13.98%. The RSV positive rate of children under 5 years of age was 10.11%, higher than that of children over 5 years of age was 6.94%. There was statistical significance ( χ2=7.67, Р<0.01). Conclusions:RSV and influenza viruses are the main pathogens in ILI cases of children under 10 years of age. There are epidemic peaks in winter and spring every year. It is suggested that the monitoring of RSV and the development and application of vaccine should be strengthened.

Objective: Cardiac magnetic resonance (CMR) is a diagnostic tool that provides precise and reproducible information about cardiac structure, function, and tissue characterization, aiding in the monitoring of chemotherapy response in patients with lightchain cardiac amyloidosis (AL-CA). This study aimed to evaluate the feasibility of CMR in monitoring responses to chemotherapy in patients with AL-CA. Materials and Methods: In this prospective study, we enrolled 111 patients with AL-CA (50.5% male; median age, 54 [interquartile range, 49–63] years). Patients underwent longitudinal monitoring using biomarkers and CMR imaging. At followup after chemotherapy, patients were categorized into superior and inferior response groups based on their hematological and cardiac laboratory responses to chemotherapy. Changes in CMR findings across therapies and differences between response groups were analyzed. Results: Following chemotherapy (before vs. after), there were significant increases in myocardial T2 (43.6 ± 3.5 ms vs. 44.6 ± 4.1 ms; P = 0.008), recovery in right ventricular (RV) longitudinal strain (median of -9.6% vs. -11.7%; P = 0.031), and decrease in RV extracellular volume fraction (ECV) (median of 53.9% vs. 51.6%; P = 0.048). These changes were more pronounced in the superior-response group. Patients with superior cardiac laboratory response showed significantly greater reductions in RV ECV (-2.9% [interquartile range, -8.7%–1.1%] vs. 1.7% [-5.5%–7.1%]; P = 0.017) and left ventricular ECV (-2.0% [-6.0%–1.3%] vs. 2.0% [-3.0%–5.0%]; P = 0.01) compared with those with inferior response. Conclusion Cardiac amyloid deposition can regress following chemotherapy in patients with AL-CA, particularly showing more prominent regression, possibly earlier, in the RV. CMR emerges as an effective tool for monitoring associated tissue characteristics and ventricular functional recovery in patients with AL-CA undergoing chemotherapy, thereby supporting its utility in treatment response assessment.

AIM:This study examined the inhibitory effect of peiminine on the human colonic adenocarcino-ma cell line SW480 and explored the underlying mechanisms.METHODS:SW480 and human normal colonic epithelial CCD-841CoN cells were treated with different concentrations of peiminine and subjected to the CCK-8 assay to select the optimal treatment time and concentration of the compound.SW480 cell migration and invasion were evaluated by the wound-healing and Transwell assays.Cell cycle progression was analyzed by flow cytometry.The expression levels of cell cycle-related proteins were examined by Western blot.SW480 xenograft tumor model was established in nude mice to ex-amine the effect of peiminine on tumor growth and the expression of cell cycle-related proteins in vivo.RESULTS:Peimi-nine(110 mg/L)significantly inhibited the proliferation of SW480 cells compared with the control group(P<0.01),caused cell cycle arrest at G1 phase,and significantly downregulated the expression of cyclin dependent kinase 2(CDK2),CDK4,CDK6,cyclin D1,p-Rb/Rb,E2F1,E2F3,and E2F4(P<0.05).Peiminine inhibited SW480 xenograft tumor growth,prolonged the survival of model mice,and affected the expression of CDK2,CDK4,CDK6,and cyclin D1 in tu-mor tissues.CONCLUSION:Peiminine promotes G1 phase arrest by down-regulating the expression of CDK2,CDK4,CDK6,and cyclin D1,thereby inhibiting the proliferation of SW480 cells.

AIM:To explore the effect and mechanism of action of the aqueous extract of Fritillaria ussuriensis(FU-AE)against nonalcoholic fatty liver disease(NAFLD).METHODS:The association between Fritillaria ussuriensis Maxir.(FU)and NAFLD was analyzed by network pharmacology.A mouse model of NAFLD was induced in mice by high fat diet(HFD)+10%fructose drinking water,and three doses of Fritillaria ussuriensis aqueous extract were given to the mice for intervention.Colorimetric assay was used for detection of aspartate aminotransferase(AST),alanine aminotrans-ferase(ALT),triglyceride(TG),total cholesterol(TC),high-density lipoprotein cholesterol(HDL-C),and low-density lipoprotein cholesterol(LDL-C)levels in the serum of experimental mice.Hematoxylin and eosin staining was used to as-sess the pathological and histological changes in the liver of mice and to clarify the anti-NAFLD effect of aqueous extracts of Fritillaria ussuriensis.Liver tissue proteins were extracted,and expression of proteins related to the AMP-activated pro-tein kinase(AMPK)/acetyl-CoA carboxylase(ACC)pathway was detected by Western blot to clarify the mechanism of an-ti-NAFLD action of Fritillaria ussuriensis.The microbial composition of cecum contents was explored using 16S rRNA se-quencing to reveal the modulatory effect of the aqueous extract of Fritillaria ussuriensis on the structure of intestinal flora in mice with nonalcoholic fatty liver disease.RESULTS:Aqueous extract of Fritillaria ussuriensis(high dose)ameliorated exogenous adipocyte infiltration in the liver of mice with NAFLD(P<0.05).AST,ALT,TG,TC and LDL-C levels were significantly decreased(P<0.05)and HDL-C levels were significantly increased(P<0.05)in the high-dose group.Aque-ous extract of Fritillaria ussuriensis(high dose)significantly increased expression of phosphorylated AMPKα,AMPKα,and phosphorylated ACC in the livers of the model mice(P<0.05),significantly reduced expression of ACC(P<0.05),and significantly increased the relative abundance of the potentially beneficial bacteria Faecalibaculum rodentium,Lacto-bacillus johnsonii,Akkermansia muciniphila(P<0.05).CONCLUSION:Aqueous extract of Fritillaria ussuriensis may ameliorate NAFLD in mice by activating the AMPK/ACC pathway and modulating the structure of intestinal flora.