Objective:To investigate the clinicopathological characteristics and diagnostic criteria of cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMTCT), and to improve understanding of this entity.Methods:The clinical features, histology, immunohistochemistry (IHC) and molecular characteristics of 3 CMTCT cases were analyzed, supplemented by a literature review.Results:All patients were female, aged 53, 46 and 46 years, respectively. Grossly, the lesions presented as dermal/subcutaneous nodules protruding from the skin surface. Histologically, tumor cells were arranged in nested and fascicular patterns separated by delicate fibrous septa. Tumor cell infiltration was observed in the epidermis of case 1, but not in that of cases 2 and 3. Tumor cells exhibited epithelioid, spindle-shaped, or oval morphology, with eosinophilic or pale cytoplasm and mild to moderate nuclear atypia. Tumor mitotic figure was <5/10 HPF. Scant melanin pigment was observed in case 2. IHC demonstrated diffuse and strong positivity for SOX-10, S-100 protein and MITF. HMB45 was negative in two cases (case 1 and case 3) and focally positive in case 2; Melan A was negative in two cases (case 1 and case 3) and partially positive in case 2. The Ki-67 proliferation index was approximately 5%-8%. Molecular analysis revealed CRTC1::TRIM11 fusion in three cases via RNA sequencing, and CRTC1 rearrangement in two cases (case 1 and case 3) via fluorescence in situ hybridization.Conclusions:CMTCT shares histological and immunophenotypic features with melanoma and clear cell sarcoma but is defined by the presence of CRTC1::TRIM11 fusion, necessitating molecular confirmation for definitive diagnosis. Complete excision with clear margins is recommended. While most of the CMTCTs exhibit indolent biological behaviors, rare cases may recur locally or metastasize, warranting close follow-up.

OBJECTIVES: To investigate the ethnic origin of Chuanqing people, one of the largest unidentified ethnic groups in Guizhou, China, and analyze its genetic relationships with surrounding populations. METHODS: Based on a self-developed microhaplotype system, we conducted genotyping and analyzed the genetic distribution of microhaplotype loci and their forensic applicability in Chuanqing population in Guizhou Province. Using the microhaplotype data from different intercontinental populations and previously reported data from Han population living in Guizhou Province, we systematically investigated the genetic background of Chuanqing people through population genetic approaches, including genetic distance estimation, principal component analysis, and phylogenetic tree construction. RESULTS: Among the studied population, the number of haplotype per microhaplotype ranged from 6 to 25. The average expected heterozygosity (He), observed heterozygosity (Ho), power of discrimination (PD), and probability of exclusion (PE) were 0.8291, 0.8301, 0.9387, and 0.6593, respectively. The cumulative power of discrimination (CPD) and cumulative probability of exclusion (CPE) for these 33 loci were 1-2.62×10^-41 and 1-7.64×10^-17, respectively. Population genetic analyses revealed that the Chuanqing population had close genetic relationships with the East Asian populations, especially the local Guizhou Han population, Beijing Han population and the Han populations living in southern China. CONCLUSIONS The 33 microhaplotypes exhibit high levels of genetic diversity in the Guizhou Chuanqing population, highlighting their potentials for both forensic identification and parentage testing. The Han populations might have contributed a significant amount of genetic material to the Chuanqing population during the formation and development of the latter.
Humans ; China/ethnology* ; Ethnicity/genetics* ; Forensic Genetics/methods* ; Genetics, Population ; Genotype ; Haplotypes ; Phylogeny ; East Asian People/genetics*

Objective:To investigate the clinicopathological characteristics and diagnostic criteria of cutaneous melanocytic tumor with CRTC1::TRIM11 fusion (CMTCT), and to improve understanding of this entity.Methods:The clinical features, histology, immunohistochemistry (IHC) and molecular characteristics of 3 CMTCT cases were analyzed, supplemented by a literature review.Results:All patients were female, aged 53, 46 and 46 years, respectively. Grossly, the lesions presented as dermal/subcutaneous nodules protruding from the skin surface. Histologically, tumor cells were arranged in nested and fascicular patterns separated by delicate fibrous septa. Tumor cell infiltration was observed in the epidermis of case 1, but not in that of cases 2 and 3. Tumor cells exhibited epithelioid, spindle-shaped, or oval morphology, with eosinophilic or pale cytoplasm and mild to moderate nuclear atypia. Tumor mitotic figure was <5/10 HPF. Scant melanin pigment was observed in case 2. IHC demonstrated diffuse and strong positivity for SOX-10, S-100 protein and MITF. HMB45 was negative in two cases (case 1 and case 3) and focally positive in case 2; Melan A was negative in two cases (case 1 and case 3) and partially positive in case 2. The Ki-67 proliferation index was approximately 5%-8%. Molecular analysis revealed CRTC1::TRIM11 fusion in three cases via RNA sequencing, and CRTC1 rearrangement in two cases (case 1 and case 3) via fluorescence in situ hybridization.Conclusions:CMTCT shares histological and immunophenotypic features with melanoma and clear cell sarcoma but is defined by the presence of CRTC1::TRIM11 fusion, necessitating molecular confirmation for definitive diagnosis. Complete excision with clear margins is recommended. While most of the CMTCTs exhibit indolent biological behaviors, rare cases may recur locally or metastasize, warranting close follow-up.

Objective:To investigate the correlation between bladder mucosal smoothness (BMS) and early urinary continence recovery following laparoscopic radical prostatectomy (LRP).Methods:A retrospective analysis was conducted on the clinical data of 192 prostate cancer patients who underwent LRP at Peking University Third Hospital between January 2016 and March 2020. The patients' average age was (69.1±8.0) years old, and the median pre-biopsy PSA level was 12.23 (7.45, 20.36) ng/ml. There were 69 patients (35.9%) with a Gleason score <7 and 123 patients (64.1%) with a Gleason score ≥7. Clinical staging showed that 92 patients (47.9%) were in stage T 1/T 2, and 100 patients (52.1%) were in stage T 3. All patients underwent MRI before prostate biopsy. The preoperative MRI measured the prostate volume (PV) as 35.4 (26.3, 51.1) ml, and membranous urethral length (MUL) as (13.9±3.5) mm. The intravesical prostatic protrusion length (IPPL) was <5 mm in 128 patients (66.7%) and ≥5 mm in 64 patients (33.3%). All patients completed MRI examination before biopsy, BMS was defined into four grades according to MRI: grade 0, the bladder mucosa is completely smooth; grade 1, a small amount of unevenness and bumps can be seen in the bladder mucosa; grade 2, fissures can be seen in the bladder mucosa, less than half of the bladder wall, or bladder diverticulum; grade 3, the bladder fissure exceeds half of the bladder wall, or fissure progresses to a small loss of muscularis. In this study, there were 63 patients (32.8%) with grade 0, 95 patients (49.5%) with grade 1, and 34 patients (17.7%) with grade 2-3. Postoperatively, patients were followed up monthly from the first month onwards to assess urinary continence recovery, defined as not requiring pads throughout the day. Logistic multivariate regression analysis was used to identify risk factors affecting early postoperative urinary continence recovery, and log-rank test was used to compare postoperative urinary continence recovery curves among different groups. Results:All surgeries were successfully completed. The complete urinary continence rates at 1, 3, 6, and 12 months postoperatively were 40.1% (77/192), 57.8% (111/192), 71.9% (138/192), and 90.1% (173/192), respectively.In the univariate analysis of urinary incontinence, the proportion of urinary incontinence was lower in patients with PV <40 ml than that in patients with PV ≥40 ml [33.0% (38/115) vs. 55.8% (43/77), P<0.05]. The proportion of urinary incontinence in patients with maximum urethral length (MUL) <14 mm was higher than that in patients with MUL ≥14 mm [75.7% (56/74) vs. 21.2% (25/118), P<0.05]. The proportion of urinary incontinence in patients with the interpubic prostate length (IPPL) <5 mm was lower than that in patients with IPPL ≥5 mm [26.6% (34/128) vs. 73.4% (47/64), P<0.05]. The proportion of urinary incontinence was lower in the group with a BMS of 0 compared to those with BMS of 1 and BMS of 2-3 [23.8% (15/63) vs. 47.4% (45/95) vs. 61.8% (21/34), P<0.05]. These results indicated that the differences in urinary incontinence proportions across these indicators are statistically significant. Multivariate analysis indicated that MUL, IPPL, and BMS were independent risk factors for early postoperative urinary incontinence(all P<0.05). The log-rank test demonstrated that differences in postoperative urinary continence recovery among groups with different PV ( P<0.05), MUL, IPPL, and BMS were all statistically significant(all P<0.05). Conclusions:Higher BMS grades are an independent risk factor for early postoperative urinary incontinence. Preoperative MUL, IPPL, PV, and BMS are correlated with urinary continence recovery after LRP. These findings require further validation in larger clinical studies.

Objective To investigate the relationship between the expression of serum microRNA-326(miR-326)and microRNA-623(miR-623)in non-small cell lung cancer(NSCLC)patients and their clinical pathological characteristics and prognosis.Methods A total of 114 NSCLC patients diagnosed in our hospital from March 2019 to June 2020 were collected as study subjects as case group,123 healthy individuals who underwent physical examination were as the control group.According to the 3-year prognosis,patients were separated into a survival group of 71 cases and a death group of 43 cases.Patient related clinical data were collected,real-time fluorescence quantitative PCR method was applied to detect the expression levels of miR-326 and miR-623 in various serum samples;Kaplan-Meier method was applied to analyze the relationship between the expression levels of serum miR-326 and miR-623 in NSCLC patients and their 3-year prognosis;Cox proportional risk regression model was applied to analyze the influencing factors of 3-year prognosis in NSCLC patients.Results The expression levels of serum miR-326 in the case group and control group were 0.64±0.15 and 1.02±0.23,respectively,and the expression levels of miR-623 were 0.56±0.10 and 0.98±0.15,respectively.The difference between the two groups was statistically significant(P＜0.05).The proportions of patients with low expression of miR-326 and miR-623 in low differentiation,TNM stage Ⅲ+Ⅳ,and lymph node metastasis were higher than those in high differentiation,TNM stage Ⅰ and Ⅱ,and no lymph node metastasis(P＜0.05).The 3-year survival rates of patients with low expression of miR-326(20/55,36.36％)and miR-623(27/61,44.26％)in the serum of NSCLC patients were lower than those of patients with high expression of miR-326(51/59,86.44％)and miR-623(44/53,83.02％)(Log Rank x2=32.060,22.812,P＜0.05).Serum miR-326[(0.55±0.09)vs.(0.69±0.11)]and miR-623 levels[(0.48±0.08)vs.(0.61±0.10)]of patients in the death group were significantly lower than those in the survival group(P＜0.05).The area under the curve(AUC)for poor prognosis of serum miR-326 and miR-623 alone and in combination in patients diagnosed with NSCLC were 0.828(95％CI:0.754 to 0.901),0.763(95％CI:0.671 to 0.855),and 0.903(95％CI:0.849 to 0.958),respectively.The proportions of patients with TNM stage Ⅲ+Ⅳ,lymph node metastasis,low expression of miR-326 and low expression of miR-623in the death group were higher than those in the survival group(P＜0.05).MiR-326 and miR-623 were protective factors affecting 3-year mortality in NSCLC patients,while TNM staging and lymph node metastasis were independent risk factors affecting 3-year mortality in NSCLC patients(P＜0.05).Conclusion The low expression of miR-326 and miR-623 may be involved in the occurrence and development of lung cancer,which is closely related to the clinical pathological characteristics and poor prognosis of patients.

Objective:To investigate the correlation between bladder mucosal smoothness (BMS) and early urinary continence recovery following laparoscopic radical prostatectomy (LRP).Methods:A retrospective analysis was conducted on the clinical data of 192 prostate cancer patients who underwent LRP at Peking University Third Hospital between January 2016 and March 2020. The patients' average age was (69.1±8.0) years old, and the median pre-biopsy PSA level was 12.23 (7.45, 20.36) ng/ml. There were 69 patients (35.9%) with a Gleason score <7 and 123 patients (64.1%) with a Gleason score ≥7. Clinical staging showed that 92 patients (47.9%) were in stage T 1/T 2, and 100 patients (52.1%) were in stage T 3. All patients underwent MRI before prostate biopsy. The preoperative MRI measured the prostate volume (PV) as 35.4 (26.3, 51.1) ml, and membranous urethral length (MUL) as (13.9±3.5) mm. The intravesical prostatic protrusion length (IPPL) was <5 mm in 128 patients (66.7%) and ≥5 mm in 64 patients (33.3%). All patients completed MRI examination before biopsy, BMS was defined into four grades according to MRI: grade 0, the bladder mucosa is completely smooth; grade 1, a small amount of unevenness and bumps can be seen in the bladder mucosa; grade 2, fissures can be seen in the bladder mucosa, less than half of the bladder wall, or bladder diverticulum; grade 3, the bladder fissure exceeds half of the bladder wall, or fissure progresses to a small loss of muscularis. In this study, there were 63 patients (32.8%) with grade 0, 95 patients (49.5%) with grade 1, and 34 patients (17.7%) with grade 2-3. Postoperatively, patients were followed up monthly from the first month onwards to assess urinary continence recovery, defined as not requiring pads throughout the day. Logistic multivariate regression analysis was used to identify risk factors affecting early postoperative urinary continence recovery, and log-rank test was used to compare postoperative urinary continence recovery curves among different groups. Results:All surgeries were successfully completed. The complete urinary continence rates at 1, 3, 6, and 12 months postoperatively were 40.1% (77/192), 57.8% (111/192), 71.9% (138/192), and 90.1% (173/192), respectively.In the univariate analysis of urinary incontinence, the proportion of urinary incontinence was lower in patients with PV <40 ml than that in patients with PV ≥40 ml [33.0% (38/115) vs. 55.8% (43/77), P<0.05]. The proportion of urinary incontinence in patients with maximum urethral length (MUL) <14 mm was higher than that in patients with MUL ≥14 mm [75.7% (56/74) vs. 21.2% (25/118), P<0.05]. The proportion of urinary incontinence in patients with the interpubic prostate length (IPPL) <5 mm was lower than that in patients with IPPL ≥5 mm [26.6% (34/128) vs. 73.4% (47/64), P<0.05]. The proportion of urinary incontinence was lower in the group with a BMS of 0 compared to those with BMS of 1 and BMS of 2-3 [23.8% (15/63) vs. 47.4% (45/95) vs. 61.8% (21/34), P<0.05]. These results indicated that the differences in urinary incontinence proportions across these indicators are statistically significant. Multivariate analysis indicated that MUL, IPPL, and BMS were independent risk factors for early postoperative urinary incontinence(all P<0.05). The log-rank test demonstrated that differences in postoperative urinary continence recovery among groups with different PV ( P<0.05), MUL, IPPL, and BMS were all statistically significant(all P<0.05). Conclusions:Higher BMS grades are an independent risk factor for early postoperative urinary incontinence. Preoperative MUL, IPPL, PV, and BMS are correlated with urinary continence recovery after LRP. These findings require further validation in larger clinical studies.

Objective:To investigate the diagnostic accuracy of serological indicators and evaluate the diagnostic value of a new established combined serological model on identifying the minimal hepatic encephalopathy (MHE) in patients with compensated cirrhosis.Methods:This prospective multicenter study enrolled 263 compensated cirrhotic patients from 23 hospitals in 15 provinces, autonomous regions and municipalities of China between October 2021 and August 2022. Clinical data and laboratory test results were collected, and the model for end-stage liver disease (MELD) score was calculated. Ammonia level was corrected to the upper limit of normal (AMM-ULN) by the baseline blood ammonia measurements/upper limit of the normal reference value. MHE was diagnosed by combined abnormal number connection test-A and abnormal digit symbol test as suggested by Guidelines on the management of hepatic encephalopathy in cirrhosis. The patients were randomly divided (7∶3) into training set ( n=185) and validation set ( n=78) based on caret package of R language. Logistic regression was used to establish a combined model of MHE diagnosis. The diagnostic performance was evaluated by the area under the curve (AUC) of receiver operating characteristic curve, Hosmer-Lemeshow test and calibration curve. The internal verification was carried out by the Bootstrap method ( n=200). AUC comparisons were achieved using the Delong test. Results:In the training set, prevalence of MHE was 37.8% (70/185). There were statistically significant differences in AMM-ULN, albumin, platelet, alkaline phosphatase, international normalized ratio, MELD score and education between non-MHE group and MHE group (all P<0.05). Multivariate Logistic regression analysis showed that AMM-ULN [odds ratio ( OR)=1.78, 95% confidence interval ( CI) 1.05-3.14, P=0.038] and MELD score ( OR=1.11, 95% CI 1.04-1.20, P=0.002) were independent risk factors for MHE, and the AUC for predicting MHE were 0.663, 0.625, respectively. Compared with the use of blood AMM-ULN and MELD score alone, the AUC of the combined model of AMM-ULN, MELD score and education exhibited better predictive performance in determining the presence of MHE was 0.755, the specificity and sensitivity was 85.2% and 55.7%, respectively. Hosmer-Lemeshow test and calibration curve showed that the model had good calibration ( P=0.733). The AUC for internal validation of the combined model for diagnosing MHE was 0.752. In the validation set, the AUC of the combined model for diagnosing MHE was 0.794, and Hosmer-Lemeshow test showed good calibration ( P=0.841). Conclusion:Use of the combined model including AMM-ULN, MELD score and education could improve the predictive efficiency of MHE among patients with compensated cirrhosis.

Objective:To investigate the form of programmed cell death (PCD) induced by severe fever with thrombocytopenia syndrome virus (SFTSV) infection in Vero cells and further explore the existence of pyroptosis, so as to provide new ideas for studying the pathogenic mechanism of SFTSV.Methods:Vero cells were infected with SFTSV at different multiplicity of infection (MOI), cytopathic effect (CPE) was observed daily, cell viability was detected by CCK-8 method, and cell membrane damage was detected by LDH release test to determine the optimal amount of virus infection and cell death time. Vero cells were pretreated with different PCD inhibitors and infected with SFTSV. CCK-8 kit was used to detect the cell viability and determine the death form of PCD caused by SFTSV. The expression of pyroptosis related proteins was detected by Western blotting to further explore the existence of pyroptosis.Results:At 48 h and 72 h after SFTSV infected Vero cells with MOI=10, the optimal infection amount and time of subsequent experiments were observed. At this time, the CPE of cells was obvious, the cell viability decreased to 51% and 41% of the control group ( P<0.001, P<0.001), and the LDH release amount reached 24% and 37% of the maximum enzyme activity release wells, were 3.8, 3.4 times of LDH release in the control group ( P<0.001, P<0.001). The inhibition of SFTSV-induced cell death by different PCD inhibitors showed that pan-caspase inhibitor and receptor-interacting serine/threonine-protein kinase 3 (RIP3) inhibitor had inhibitory effects at 48 h and 72 h. The cell viability was 2.1 and 1.6 times of the viral control group at 48 h, 2.3 and 1.7 times of the viral control group at 72 h, and the effect of pan-caspase inhibitor was significantly higher than that of the other inhibitor groups. Caspase-1 and caspase-3 inhibitors only had inhibitory effect at 48 h, and the cell viability was 1.5 and 1.3 times of the viral control group. After SFTSV infection of Vero cells, the expressions of caspase-1 and IL-1β increased gradually with the prolongation of time, and reached 3.4 and 9.5 times of the control group at 48 h, respectively ( P<0.001, P<0.001). Conclusions:SFTSV infection of Vero cells can lead to various forms of PCD, including apoptosis, pyroptosis and programmed necrosis, and pyroptosis related protein activation can be detected in the process of PCD, which further explored the existence of pyroptosis.

Objective:To compare the differences in the prevalence of mild micro-hepatic encephalopathy (MHE) among patients with cirrhosis by using the psychometric hepatic encephalopathy score (PHES) and the Stroop smartphone application (Encephal App) test.Methods:This prospective, multi-center, real-world study was initiated by the National Clinical Medical Research Center for Infectious Diseases and the Portal Hypertension Alliance and registered with International ClinicalTrials.gov (NCT05140837). 354 cases of cirrhosis were enrolled in 19 hospitals across the country. PHES (including digital connection tests A and B, digital symbol tests, trajectory drawing tests, and serial management tests) and the Stroop test were conducted in all of them. PHES was differentiated using standard diagnostic criteria established by the two studies in China and South Korea. The Stroop test was evaluated based on the criteria of the research and development team. The impact of different diagnostic standards or methods on the incidence of MHE in patients with cirrhosis was analyzed. Data between groups were differentiated using the t-test, Mann-Whitney U test, and χ2 test. A kappa test was used to compare the consistency between groups. Results:After PHES, the prevalence of MHE among 354 cases of cirrhosis was 78.53% and 15.25%, respectively, based on Chinese research standards and Korean research normal value standards. However, the prevalence of MHE was 56.78% based on the Stroop test, and the differences in pairwise comparisons among the three groups were statistically significant (kappa = -0.064, P < 0.001). Stratified analysis revealed that the MHE prevalence in three groups of patients with Child-Pugh classes A, B, and C was 74.14%, 83.33%, and 88.24%, respectively, according to the normal value standards of Chinese researchers, while the MHE prevalence rates in three groups of patients with Child-Pugh classes A, B, and C were 8.29%, 23.53%, and 38.24%, respectively, according to the normal value standards of Korean researchers. Furthermore, the prevalence rates of MHE in the three groups of patients with Child-Pugh grades A, B, and C were 52.68%, 58.82%, and 73.53%, respectively, according to the Stroop test standard. However, among the results of each diagnostic standard, the prevalence of MHE showed an increasing trend with an increasing Child-Pugh grade. Further comparison demonstrated that the scores obtained by the number connection test A and the number symbol test were consistent according to the normal value standards of the two studies in China and South Korea ( Z = -0.982, -1.702; P = 0.326, 0.089), while the other three sub-tests had significant differences ( P < 0.001). Conclusion:The prevalence rate of MHE in the cirrhotic population is high, but the prevalence of MHE obtained by using different diagnostic criteria or methods varies greatly. Therefore, in line with the current changes in demographics and disease spectrum, it is necessary to enroll a larger sample size of a healthy population as a control. Moreover, the establishment of more reliable diagnostic scoring criteria will serve as a basis for obtaining accurate MHE incidence and formulating diagnosis and treatment strategies in cirrhotic populations.

Objective:To observe the susceptibility factors of elderly patients with corynebacterium striata in sputum of lower respiratory tract and analyze its clinical therapeutic effect.Methods:The clinical data of 192 elderly inpatients infected with corynebacterium striatum detected in sputum of lower respiratory tract were retrospectively analyzed in Quanzhou First Hospital Affiliated to Fujian Medical University from January 2019 to June 2021.The detection rate of corynebacterium striata was calculated, and the susceptibility factors and clinical efficacy were compared between the infection group(n=102)and the colonization group(n=90).Results:The detection rate of corynebacterium striata(detected cases / numbers of qualified lower respiratory tract sputum specimen)was 0.8%(72/8976)from January to December 2019, 2.3%(134/5877)from January to December 2020, and 3.0%(121/4 039)from January to June 2021, the difference was statistically significant( χ2=93.93, P<0.01). The detection rates of corynebacterium striatum during three corresponding periods in elderly patients were 0.6%(57/8 976), 1.4%(81/5 877)and 1.9%(78/4 039), respectively, with statistically significant differences( χ2=45.57, P<0.01). The incidences or values of following indexes were higher in infection group than in colonization group: age of patients, admission of intensive care unit, malnutrition, use of hormones, combined use of antibiotics, use of invasive mechanical ventilation, use of fiber bronchoscope, reduced cough reflex, other basic diseases, and so on, but the differences were not statistically significant(all P>0.05). The clinical effective rates were 41.2%(42/102)in the infection group and 48.9%(44/90)in the colonization group, respectively, and the differences was not statistically significant( P>0.05). Only 25 patients(24.5%)in the infected group were treated on corynebacterium striatum according to drug sensitivity results.Among them, the clinical effective rate of the treatment group and the untreated group was 68.0%(17/25)and 32.5%(25/77), respectively, the difference was statistically significant( χ2=9.84, P<0.01). The clinical effective rate of untreated group was lower than that of colonization group, the difference was statistically significant( χ2=4.62, P<0.05). Conclusions:The detection rate of corynebacterium striatum in elderly patients is high, and increases year by year.Patients infected with corynebacterium striatum usually has a variety of susceptibility factors, if not taking effective treatment measures, may have adverse outcomes.In clinical work, it is necessary to pay attention to and reduce the susceptibility factors of corynebacterium striatum, and to correctly interpret the etiological reports, so as to adopt a reasonable and effective therapeutic schedule.