[Efficacy comparison of robot-assisted versus freehand fluoroscopy-assisted minimally invasive transforaminal lumbar interbody fusion for degenerative lumbar spinal diseases].

Objective: To compare the clinical and radiographic outcomes between robot-assisted minimally invasive transforaminal lumbar interbody fusion (RA MIS-TLIF) and fluoroscopy-assisted MIS-TLIF (FA MIS-TLIF) in patients with degenerative lumbar spinal diseases. Methods: The clinical data of 114 patients with lumbar degenerative diseases who underwent MIS-TLIF in Qilu Hospital of Shandong University from January 2019 to March 2022 were analyzed retrospectively. Fifty-eight patients underwent RA MIS-TLIF (robot group) and 56 patients received FA MIS-TLIF (freehand group). There were 16 males and 42 females in the robot group, with a mean age of (56.7±8.1) years. And there were 19 males and 37 females in the freehand group, with a mean age of (57.2±8.6) years. The clinical outcome parameters were the visual analog scale (VAS) of pain, Oswestry Disability Index (ODI) score, operative time, number of intraoperative fluoroscopies, blood loss, postoperative hospital stay and complications. The radiographic change measures were the accuracy of screw placement, facet joint violation (FJV), fusion status, and change in disc height at the proximal adjacent segment. All the patients were followed-up for 2-5 years. Results: There was no significant differences in the VAS and ODI scores, blood loss, or postoperative hospital stay between the two groups (all P>0.05). The operative time was longer in robot group than freehand group [(158.5±12.1) min vs (146.4±15.4) min, P<0.001]. There was no significant difference in the number of intraoperative fluoroscopies for patients between robot group and freehand group (P>0.05). The number of intraoperative fluoroscopies for the surgeon was significantly lower in robot group than freehand group (13.8±3.9 vs 74.7±6.8, P<0.001). The rate of a perfect screw position (grade A) was higher in robot group than freehand group [87.5%(203/232) vs 70.1%(157/224), P<0.001]. However, there was no significant difference in the proportion of clinically acceptable screws (grades A and B) between the two groups [98.3%(228/232) vs 96.9%(217/224), P=0.330]. The FJV grade was significantly higher in freehand group than robot group (0.43±0.68 vs 0.13±0.43, P<0.001). During at 2-year postoperative follow-up, there was no significant difference in the fusion status between the two groups (P>0.05); however, the decrease in disc height at the proximal adjacent segment was significantly less in robot group than freehand group [(0.63±0.38) mm vs (0.92±0.35) mm, P=0.001]. In the robotic group, a pedicle screw penetrated the outer wall of the vertebral pedicle in one patient, which was adjusted during surgery. In the freehand group, two screws were inserted too deeply and penetrated the anterior cortex, resulting in mild abdominal discomfort postoperatively, which resolved by the third day after surgery. Conclusions: Robot-assisted percutaneous pedicle screw placement is a safer and more accurate alternative to conventional freehand fluoroscopy-assisted pedicle screw insertion in MIS-TLIF. Compared with freehand MIS-TLIF, robot-assisted MIS-TLIF increases the operation time, but the accuracy of screw placement is higher, and the intraoperative radiation dose and the degree of adjacent segment degeneration are reduced.

Chromosomal analysis in pregnant women of advanced maternal age: indications for prenatal diagnosis.

The demographic of women of advanced maternal age (AMA), defined as those over 35 years, is expanding in response to the liberalization of China's three-child policy. A significant proportion of these women are electing to undergo noninvasive prenatal testing (NIPT). Nonetheless, next-generation sequencing (NGS) is the recommended method for prenatal screening among women of AMA in the world. Consequently, the decision between opting for NIPT or NGS has emerged as topic of considerable debate and interest within the medical community. The objective was to explore which prenatal screening and diagnosis is suitable for women of AMA with different comorbidities. In this retrospective study, 326 pregnant women with AMA were divided into 9 groups to investigate clinically significant copy number variation (CNV) in different amniocentesis indications by amniocentesis and NGS. Clinically significant chromosomal abnormalities were identified in 84 cases (25.8%). Among the 119 detected segmental imbalances, 16 cases (13.4%) exhibited pathogenic or likely pathogenic microdeletions or micro-duplications. The incidence of pathogenic or likely pathogenic CNVs was significantly higher in the AMA with soft ultrasound markers group compared to the general AMA group (11.5% vs. 1.1%; P=0.016). Additionally, the incidence of pathogenic or likely pathogenic CNVs was significantly higher in the AMA with NIPT group compared to the general AMA group (48.7% vs. 1.1%; P<0.001). The incorporation of soft ultrasound markers and NIPT significantly enhanced the detection rate of clinically significant CNVs in women of AMA by 10.4% and 47.6%, respectively. Furthermore, the detection rate of clinically significant CNVs increased by 37% in women of AMA who underwent NIPT, when soft ultrasound markers were present. The positive predictive value of NIPT in detecting sex chromosome aneuploidy notably improved from 57.9% to 80% with the inclusion of soft ultrasound markers. Therefore, the combination of NIPT and soft ultrasound markers in women of AMA should be strongly considered and recommended for prenatal diagnosis.

[Transabdominal-transvaginal ultrasound cervical length sequential screening to predict the risk of spontaneous preterm birth in singleton pregnancy women with low risk of preterm birth].

Objective: To investigate the feasibility of predicting the risk of spontaneous preterm birth in singleton pregnancy women with low risk of preterm birth by transabdominal-transvaginal ultrasound cervical length sequential screening in the second trimester. Methods: This prospective longitudinal cohort study included singleton pregnant women at 11-13+6 gestational weeks who were admitted to Nanjing Drum Tower Hospital from January 2023 to September 2023. Transabdominal and transvaginal cervical lengths were measured during the mid-trimester fetal ultrasound scan at 18-24 weeks, and pregnancy outcomes were obtained after delivery. A short cervix was defined as a transvaginal cervical length of ≤25 mm, and the outcomes were defined as spontaneous preterm birth occurs between 20 and 36+6 weeks and extremely preterm birth before 32 weeks. The area under the receiver operating characteristic (ROC) curve was used to evaluate the effectiveness of predicting spontaneous preterm birth by transabdominal and transvaginal cervix length, as well as the effectiveness of predicting short cervix by transabdominal cervical length. The relationship between transabdominal and transvaginal cervical length was evaluated using a scatter plot. Results: A total of 562 cases were included in this study, comprising 33 cases of spontaneous preterm birth (7 cases occurring before 32 weeks) and 529 cases of term birth. (1) Compared to the term birth group, transabdominal cervical length (median: 37.6 vs 33.2 mm; Z=-3.838, P<0.001) and transvaginal cervical length (median: 34.0 vs 29.9 mm, Z=-3.030, P=0.002) in the spontaneous preterm birth group were significantly shorter. (2) The areas under the ROC curve for predicting spontaneous preterm birth by transabdominal and transvaginal cervical length were 0.699 (95%CI: 0.588-0.809) and 0.657 (95%CI: 0.540-0.774), respectively. The sensitivity, specificity and positive predictive value of transvaginal cervical length Conclusions: In singleton pregnancy women with low risk of preterm birth, transabdominal-transvaginal cervical length sequential screening can reduce unnecessary transvaginal ultrasounds by approximately 41% without missing the diagnosis of pregnant women with a short cervix. This method also enhances the effectiveness of transvaginal cervical length to spontaneous preterm birth.

Feasibility of using synthetic MRI to predict lymphatic vascular space invasion status in early-stage cervical cancer: added value to morphological MRI.

OBJECTIVES: To investigate the feasibility of synthetic magnetic resonance imaging (syMRI) in predicting the lymphatic vascular space invasion (LVSI) status of early-stage cervical cancer, and its added value to morphological MRI. MATERIALS AND METHODS: A total of 72 patients with pathology-confirmed early-stage cervical cancer were enrolled, and classified into LVSI- positive (n=41) and LVSI- negative (n=31) groups. Together with morphological parameters including gross tumor volume (GTV) and maximum tumor diameter (MTD), the T1, T2, and proton density (PD) values of the tumors were also measured and compared between two groups. Binary logistic regression analysis was used to identify the independent variable associated with LVSI. Receiver operating characteristic curve analyses and DeLong tests were used to evaluate and compare the performances of significant parameters or their combination in predicting LVSI. RESULTS: LVSI- positive group showed significantly higher GTV (P=0.008) and MTD (P=0.019), and lower T1 (P<0.001) and PD values (P=0.041) than LVSI- negative group. However, no statistical significance was observed regarding the T2 values (P=0.331). Binary logistic regression indicated that T1 value (odds ratio [OR] = 0.993; P=0.001) and MTD (OR=1.903, P=0.027) were independent variables associated with LVSI in early cervical cancer. Optimal performance could be achieved [area under ROC curve (AUC) = 0.784; cut-off value = 0.56; sensitivity = 80.5%; specificity = 71.0%] when combining T1 and MTD for predicting LVSI. Its performance was significantly better than that of MTD alone (AUC, 0.784 vs 0.662, P=0.035). CONCLUSION: syMRI might be a feasible approach, and it can provide added value to morphological MRI in predicting the LVSI status of early-stage cervical cancer.

[Porphyromonas gingivalis persisters induce the immuno-inflammatory responses in macrophages by upregulating the forkhead box1 signaling pathway].

Objective: To investigate the effects of Porphyromonas gingivalis (Pg) persisters (Ps) on immuno-inflammatory responses in macrophages, and to explore the underlying mechanisms. Methods: Pg cells were cultured to the stationary phase (72 h), and subsequently treated by high concentration of metronidazole at 100 mg/L, amoxicillin at 100 mg/L and the combination of them for different time period, named as metronidazole group, amoxicillin group and (metronidazole+amoxicillin) group. Pg cells without treatment were used as Blank control. The survival profile of PgPs cells was measured by colony-forming unit assay. The living state of PgPs was observed by Live/Dead staining. Then, Pg and metronidazole-treated PgPs (M-PgPs) were used to treat macrophages, named as Pg group and M-PgPs group. Transmission electron microscopy (TEM) was used to observe the bacteria in the macrophages. The expression levels of proinflammatory cytokines in macrophages were determined by real-time fluorescence quantitative PCR and enzyme-linked immunosorbent assay. The location of forkhead box transcription factor 1 (FOXO1) was detected by confocal immunofluorescence microscopy. After inhibiting or enhancing the FOXO1 expressions using inhibitors (Fi) or activators (Fa) respectively, the macrophages were treated with Pg and M-PgPs, divided as Blank group, Pg group, M-PgPs group, Fi group, (Fi+Pg) group, (Fi+M-PgPs) group, Fa group, (Fa+Pg) group and (Fa+M-PgPs) group. Then, the expression pattens of proinflammatory cytokines were assessed. Results: Remarkable number of lived PgPs was observed, both in planktonic culture and Pg biofilms either treated with metronidazole, amoxicillin or both, and those persisters could form new colonies. Pg and M-PgPs were able to enter into the macrophages and the protein expression levels of interleukin (IL)-1ß, IL-6, IL-8 and tumor necrosis factor-α (TNF-α) [Pg group: (2 392±188), (162±29), (5 558±661), (789±155) µg/L; M-PgPs group: (2 415±420), (155±3), (5 732±782), (821±176) µg/L] were significantly upregulated than those in Blank group [(485±140), (21±9), (2 332±87), (77±7) µg/L] (P<0.01). Moreover, Pg and M-PgPs could facilitate the nuclear translocation and accumulation of FOXO1. In addition, the relative mRNA expression levels of FOXO1, B-cell lymphoma 6 and Krüppel-like factor 2 were upregulated when compared to Blank group (P<0.05). Furthermore, the protein expression levels of IL-1ß, IL-6, IL-8 and TNF-α in Fi+Pg group [(1 081±168), (70±8), (1 976±544), (420±47) µg/L] were remarkably lower than Pg group [(4 411±137), (179±6), (5 161±929), (934±24) µg/L] (P<0.05). Similarly, the protein expression levels of IL-1ß, IL-6, IL-8 and TNF-α in Fi+M-PgPs group [(1 032±237), (74±10), (1 861±614), (405±32) µg/L] were remarkably lower than M-PgPs group [(4 342±314), (164±17), (4 438±1 374), (957±25) µg/L] (P<0.05). On the contrary, the protein expression levels of IL-1ß, IL-6, IL-8 and TNF-α in Fa+Pg group [(8 198±1 825), (431±28), (8 919±650), (2 186±301) µg/L] and Fa+M-PgPs group [(8 159±2 627), (475±26), (8 995±653), (2 255±387) µg/L] were significantly higher than Pg group and M-PgPs group, respectively (P<0.05). Conclusions: PgPs are highly tolerant to metronidazole and amoxicillin. The M-PgPs could enhance the immuno-inflammatory responses in macrophages by upregulating the FOXO1 signaling pathway, while this effect exhibits no significant difference with Pg.

[Progress in novel biomarkers of anti-tuberculosis drug-induced liver injury].

Anti-tuberculosis drug-induced liver injury(ATB-DILI) is the most common adverse reaction during anti-tuberculosis therapy in tuberculosis patients. At present, the diagnosis of ATB-DILI is mainly based on traditional biomarkers such as transaminases, but these indicators have low specificity for liver toxicity, they cannot explain the mechanism of liver injury and the early onset of ATB-DILI. Based on the prediction of disease severity, treatment and prevention, this paper described the current potential biomarkers of ATB-DILI.

Risk perception for fractures and its related factors among family caregivers of underage patients with osteogenesis imperfecta in China: A cross-sectional study.

PURPOSE: To describe the level of risk perception for fractures among family caregivers of children diagnosed with osteogenesis imperfecta, and explore the related factors. DESIGN AND METHODS: This was a cross-sectional survey study. A self-administered questionnaire on family caregivers' perception of fracture risk of underage patients with osteogenesis imperfecta was used. The study was performed in mainland China from May to December 2022, with 127 family caregivers of patients aged 3-17. Stepwise backwards multivariable linear regression analysis was undertaken to examine risk factors for caregivers' risk perception of fractures. RESULTS: A total of 16.54% of caregivers had a higher level of risk perception for fractures of patients. The caregiver's educational level, the family members, the patient's self-care ability, fracture times in the past year, and whether or not they had received community services were associated with the caregiver's risk perception for fracture. CONCLUSIONS: Patients with osteogenesis imperfecta will eventually leave the medical system and receive more support from themselves or family caregivers instead of health personnel. These findings should be incorporated into the prevention and health education of fractures in caregivers of underage patients with osteogenesis imperfecta to help develop effective risk communication strategies and induce caregivers to implement appropriate protective behaviors. PRACTICE IMPLICATIONS: It is important to evaluate the risk perception for fractures and its related factors among family caregivers of underage patients with osteogenesis imperfecta. Identifying these factors can help healthcare providers to screen caregivers with high perceived level of fracture risk in a quicker and earlier way. This study provides evidence for the establishment of interventions to balance caregivers' risk perception and patient socialization.

Fruit Intake and Alzheimer's Disease: Results from Mendelian Randomization.

Alzheimer's disease (AD) is the leading cause of dementia in old age, recognized as a global health priority. To explore causal effects of fresh fruit intake and dried fruit intake on AD liability, this study utilized GWAS from the UK Biobank and FinnGen to conduct Mendelian randomization (MR) analysis, and used inverse variance weighted (IVW), MR-Egger, and weighted median approaches for MR estimates, and visual inspections judged result stability. Results suggested little evidence of a potential causal relationship between fresh fruit intake and AD (OR=0.97, 95%CI=0.50-1.91, P=0.939), while significant, robust causality was indicated between dried fruit intake and AD (OR=4.09, 95%CI=2.07-8.10, P<0.001). Stability evaluations showed no heterogeneity or pleiotropy affecting interpretability and credibility of primary analyses. In conclusion, we strengthened evidence for positive causality from dried fruit intake to AD liability, with causality from fresh fruit intake on AD risk was not demonstrated.

Clinical efficacy and adverse reactions analysis of PD-1/PD-L1 inhibitors in advanced esophageal squamous cell carcinoma.

OBJECTIVE: The aim of this study was to investigate the clinical efficacy and associated adverse reactions of Programmed Death Receptor-1 (PD-1)/PD-L1 inhibitors in the management of patients with advanced esophageal squamous cell carcinoma (ESCC). PATIENTS AND METHODS: In this retrospective study, 54 patients with advanced ESCC treated with PD-1/PD-L1 inhibitors in our hospital from January 2021 to January 2023 were identified as the research subjects. Using propensity score matching at a 1:1 ratio, patients only receiving chemotherapy were recruited as controls. The clinical effectiveness of PD-1/PD-L1 was evaluated by comparing the objective response rate (ORR) and disease control rate (DCR). Progression-free survival (PFS) and overall survival (OS) were analyzed for treatment outcome assessments. Adverse events (AEs) between the two groups were recorded and compared. RESULTS: Patients treated with PD-1/PD-L1 inhibitors had a higher rate of ORR (33.33%) and disease control (85.19%), compared to controls with an objective response rate of 20.37% and a disease control rate of 59.26%. The two groups showed similar ORR results, while the incorporation of PD-1/PD-L1 inhibitors resulted in significantly increased DCR when compared to the controls. The median OS was 22 months (95% CI: 1,629 months) for the control group and 31 months (95% CI: 28NA) for the study group, suggesting OS benefits offered by PD-1/PD-L1 inhibitor treatment (HR=0.479, 95% CI: 0.284, 0.809). The median PFS was 15 months (95% CI: 1,223 months) for the control group and 23 months (95% CI: 1,926) for the study group, indicating more PFS benefits provided by PD-1/PD-L1 inhibitors (HR=0.662, 95% CI: 0.436, 1.005). Adverse events and their severity were recorded during patient follow-up, and no grade 5 adverse events were reported in either group. The incidence of grade 3 or higher adverse events between the two groups was similar, while PD-1/PD-L1 inhibitors appeared to significantly reduce the incidence of gastrointestinal reactions in patients. CONCLUSIONS: PD-1/PD-L1 inhibitors integrated with chemotherapy provide significant benefits in the management of patients with advanced ESCC without increasing adverse events.

[Effect of clonal hematopoiesis in remission on hematopoiesis recovery in patients with NPM1 mutated acute myeloid leukemia after chemotherapy].

Objective: To investigate the effect of clonal hematopoiesis (CH) in remission on hematopoiesis recovery in patients with NPM1 mutated acute myeloid leukemia (AML) after chemotherapy. Methods: Retrospective analysis was performed on 86 patients with NPM1(mut) AML newly diagnosed and treated in the First Affiliated Hospital of Soochow University between July 2016 and June 2019. Their clinical data and NGS test results at diagnosis were analyzed. Moreover, bone marrow samples in remission were tested using Sanger sequencing. The log-rank test was used to analyze the difference in hematopoietic recovery, and Cox proportional hazard models were used to analyze the prognostic factors affecting hematopoietic recovery. Results: The median age of the 86 NPM1(mut) AML patients was 50 years (15-69 years). There were 39 males and 47 females. Forty-one patients were induced with intensity chemotherapy ("7 + 3"), whereas 45 patients were treated with low-dose cytarabine-based induction chemotherapy. At diagnosis, The most common mutations in the patients were FLT3, DNMT3A, TET2, and IDH1/IDH2 mutations. CH-associated mutations persisted in 21 patients during remission, and the mutations were DNMT3A, TET2, ASXL1, and IDH1/IDH2. The recovery time of neutrophils in patients with CH-associated mutations in remission was consistent with that in patients without CH in remission (P=0.282) but the recovery time of platelets in patients with CH in remission was significantly longer[26 (95% CI 21-32) days vs 25 (95% CI 23-26) days, P=0.032]. Furthermore, univariate analysis indicated that age, induced chemotherapy program, and CH in remission were risk factors for platelet recovery, whereas multivariate analysis indicated that induced chemotherapy program and CH in remission were independent risk factors for platelet recovery (HR=0.454, P=0.001 and HR=0.520, P=0.027, respectively) . Conclusion: CH in remission delays the hematopoietic recovery of patients with NPM1(mut) AML after chemotherapy.

[Emphasizing precision minimally invasive corneal surgery].

In recent years, precision minimally invasive surgery has emerged as a significant developmental direction within the field of ophthalmology, bringing about revolutionary changes in the treatment of corneal diseases. Employing cutting-edge techniques and surgical methods, corneal surgeries have achieved greater precision and safety. In cases such as immune-mediated corneal diseases, it remains crucial to underscore the enhancement of vision through minimally invasive surgical approaches, thereby avoiding potential irreversible complications that surgery might induce. This article aims to assist readers in comprehending the profound impact of precision minimally invasive surgery on the treatment of corneal diseases, and calls upon medical professionals and researchers to continually explore and refine the realm of precision minimally invasive corneal surgery, fostering its further advancement.

[Investigation and analysis of clinical application of stainless steel crowns for primary molars in 2013 and 2022].

Objective: To provide references for the clinical popularization of stainless steel crowns by analyzing the clinical application and affecting factors of stainless steel crowns used in primary molars based on a questionnaire survey. Methods: Pediatric dentists from all over the country in June to December 2013 and June to December 2022 were selected to answer the survey questionnaire through the online or offline methods for analyzing the clinical application and influencing factors of stainless steel crowns used in primary molars. Results: A total of 712 and 580 questionnaires were distributed, and 608 and 512 valid questionnaires were recovered respectively in 2013 and 2022. The effective rates of the questionnaires were 85.4% and 88.3%. Among them, the usage rates of stainless steel crowns in 2013 and 2022 were 52.6% (320/608) and 78.1% (400/512) respectively, with a statistically significant difference (χ2=78.68, P<0.001). The main reasons for not selecting stainless steel crowns in 2013 were high technical sensitivity [52.8% (152/288)], followed by the impact of crown edge on gingiva [50.0% (144/288)] and poor aesthetics [27.8% (80/288)], while in 2022 were the inadequate equipage in hospitals [53.6% (60/112)] and poor aesthetics [21.4% (24/112)]. The main reasons for choosing stainless steel crowns restoration were good protection effect, less tooth fracture [78.1% (250/320) in 2013 and 82.5% (330/400) in 2022], followed by low dropout rate [62.5% (200/320) in 2013 and 68.0% (272/400) in 2022]. The proportions of stainless steel crowns restoration for primary molars after root canal therapy were 51.3% (312/608) and 76.6% (392/512) respectively with statistically significant (χ2=75.88, P<0.001). The proportions after pulp capping treatment for deep caries were 13.2% (80/608) and 53.1% (272/512) respectively, and the difference was statistically significant (χ2=206.01,P<0.001). Conclusions: During the 10 years from 2013 to 2022, the technical sensitivity of stainless steel crowns had gradually decreased, and the application in China had gradually increased. However, some hospitals have not yet equipped, which limits the application of stainless steel crowns. Therefore, training efforts should be derived to promote the clinical popularization of stainless steel crowns.

[A case report of ocular monkeypox].

A 35-year-old male patient arrived at the clinic, reporting a persistent issue of his right eye being difficult to open for the past three weeks. Alongside this, he had been experiencing a gradual development of lesions around the eye. Notably, about a month prior to the onset of these symptoms, the patient had engaged in unprotected intercourse with a male partner. The initial manifestation was a papule near the eye, which then rapidly progressed. Laboratory analysis of samples taken from the lesions confirmed the presence of monkeypox through polymerase chain reaction testing. Furthermore, this patient received positive diagnoses for both HIV and syphilis infections. Notably, his absolute CD4 count was measured at an extremely low level of 2 cells/µl.(This article was published ahead of print on the official website of Chinese Journal of Ophthalmology on September 18, 2023).

[Correlation and clinical significance of VISTA expression and cervical squamous cell carcinoma].

Objective: To explore the relationship between the expression of the T-cell activation suppressor-immunoglobulin variable region (VISTA) and the development of cervical squamous cell carcinoma (CSCC), and the impact on the prognosis of CSCC patients. Methods: Cervical tissue samples from 116 CSCC, including 23 cervical intraepithelial neoplasia (CIN) grade I, 23 CIN grade Ⅱ-Ⅲ, and 23 chronic cervicitis patients, were collected from the First Hospital of Soochow University between March 2014 and April 2019. The expression of VISTA in each group was detected by immunohistochemistry (IHC). Survival data of CSCC patients were obtained by follow-up. The survival analysis was performed by Kaplan-Meier method, and survival differences between groups were compared by Log rank test. Prognostic impact factors were analyzed using a multifactorial Cox proportional hazards model. Results: The positive rate of VISTA expression in CSCC group was 32.8% (38/116), and which of grade Ⅱ-Ⅲ was 17.4% (4/23). VISTA expression results showed no positive expression patients in the cervical intraepithelial neoplasia grade I and chronic cervicitis groups. The differences between the CSCC group and other groups were statistically significant (P<0.01). In 116 CSCC patients, VISTA expression was associated with International Federation of Gynecology and Obstetrics (FIGO) stage and lymph node metastasis (P<0.01). The mean survival time of patients in the VISTA positive expression group was 30.7 months, and the 3-year survival rate was 44.7% (17/38). However, the mean survival time of the patients in the VISTA negative expression group was 49.1 months, and the 3-year survival rate was 87.2% (68/78). The Cox regression model found that VISTA expression positivity (P=0.001) and FIGO stage (P=0.047) were prognostic factors for CSCC, and patients with VISTA-positive CSCC had a 4.130-fold risk of death higher than those with VISTA-negative expression. Conclusions: The VISTA protein is highly expressed in CSCC tissues, and its expression level is closely related to the occurrence and development of CSCC. The expression of VISTA can be used as an independent predictor of CSCC prognosis and can provide a strong basis for the treatment of CSCC with immune checkpoint inhibitors.

[Research progress of radiomics in the evaluation of microvascular invasion in hepatocellular carcinoma].

Microvascular invasion (MVI) is an independent predictor of early recurrence and poor prognosis following hepatocellular carcinoma (HCC) resection and transplantation. As a novel non-invasive diagnostic tool, radiomics can extract the quantitative imaging features of tumors and peritumoral tissues with high throughput, providing more information on tumor heterogeneity than conventional and functional imaging of visual analysis and having a good application prospect in predicting the presence of MVI in HCC patients, thereby improving the accuracy of HCC diagnosis and prognosis. The value of the multimodal radiomics method based on various imaging methods in evaluating the possibility of MVI in HCC patients is elucidated here in combination with the latest research progress.

[A new form of familial platelet disorder caused by germline mutations in RUNX1 in a pedigree].

Objective: To investigate the clinical and biological characteristics of familial platelet disorder (FPD) with germline Runt-related transcription factor (RUNX) 1 mutations. Methods: Patients diagnosed with myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML) with RUNX1 mutations from February 2016 to December 2021 in Wuhan No.1 Hospital underwent pedigree analysis and were screened for gene mutations (somatic and germline). Patients diagnosed with FPD with germline RUNX1 mutations were enrolled and evaluated in terms of clinical characteristics and biological evolution. Bioinformatics analysis was used to assess the pathogenicity of mutations and to analyze the effect of mutated genes on the function of the corresponding protein. Results: Germline RUNX1 mutations were detected in three out of 34 patients suffering from MDS/AML who had RUNX1 mutations. A pedigree of FPD with RUNX1 (RUNX1-FPD) c.562A>C and RUNX1 c.1415T>C mutations was diagnosed, and the mutations were of patrilineal origin. Bioinformatics analysis indicated that the locus at positions 188 and 472 in the AML-1G type of RUNX1 was highly conserved across different species, and that variations might influence functions of the proteins. The mutations were evaluated to be highly pathogenic. Of the nine cases with germline RUNX1 mutations: two patients died due AML progression; one case with AML survived without leukemia after transplantation of hemopoietic stem cells; four patients showed mild-to-moderate thrombocytopenia; two cases had no thrombocytopenia. During the disease course of the proband and her son, mutations in RUNX1, NRAS and/or CEBPA and KIT appeared in succession, and expression of cluster of differentiation-7 on tumor cells was enhanced gradually. None of the gene mutations correlated with the tumor were detected in the four cases not suffering from MDS/AML, and they survived until the end of follow-up. Conclusions: RUNX1-FPD was rare. The mutations c.562A>C and c.1415T>C of RUNX1 could be the disease-causing genes for the family with RUNX1-FPD, and these mutations could promote malignant transformation. Biological monitoring should be carried out regularly to aid early intervention for family members with RUNX1-FPD.