OBJECTIVE: To explore the application value of artificial intelligence (AI)-assisted chromosomal karyotype analysis in the diagnosis of prenatal chromosomal mosaicism. METHODS: A retrospective analysis was conducted on 172 pregnant women who underwent amniocentesis at the Department of Medical Genetics and Prenatal Diagnosis, the Third Affiliated Hospital of Zhengzhou University between January 2019 and December 2024. All cases whose fetuses were diagnosed with chromosomal mosaicism via karyotype analysis and stratified into two groups based on the analytical software employed: the conventional analysis group (n = 70), which utilized Leica analysis software for karyotype image recognition and cell counting; and the AI-assisted analysis group (n = 102), which utilized AI-assisted software for the same procedures. The clinical performance of AI-assisted karyotype analysis in diagnosing chromosomal mosaicism was comprehensively evaluated by comparing the types of mosaic karyotypes, distribution of mosaic ratios, and verification outcomes of different detection modalities between the two groups. This study was approved by the Medical Ethics Committee of the Third Affiliated Hospital of Zhengzhou University (Ethics No.: 2024-406-01). RESULTS: No statistically significant difference was observed in baseline characteristics (maternal age, gestational week, and indications for prenatal diagnosis) between the two groups. Regarding the detection efficacy for numerical and structural mosaicisms, no significant difference was found in the detection of numerical mosaicism. However, the conventional analysis group exhibited a significantly higher detection rate of autosomal structural mosaicism compared to the AI-assisted group (11.43% vs. 0.98%, P < 0.05). Numerical mosaicism cases were further verified using copy number variation sequencing (CNV-seq) and/or fluorescence in situ hybridization (FISH). The AI-assisted group demonstrated a significantly lower inconsistency rate (5.56% vs. 20.41%, P < 0.05) compared to the conventional group. For low-proportion (< 10%) chromosomal mosaicism, the AI-assisted group had a significantly lower detection rate (13.25% vs. 29.69%, P < 0.05). Subsequent validation of low-proportion mosaicism by CNV-seq and/or FISH showed a higher consistency rate in the AI-assisted group (81.82% vs. 54.55%), though the difference did not reach statistical significance (P = 0.360). CONCLUSION For the karyotyping analysis of prenatal chromosomal mosaicism, AI-assisted karyotype analysis shows high accuracy and consistency in identifying numerical chromosomal mosaicism, particularly in reducing the detection of low-proportion (< 10%) mosaicism while improving verification accuracy. AI-assisted analysis can significantly improve the detection accuracy of numerical mosaicism and mitigate the risk of misclassification for low-proportion (< 10%) mosaicism, thereby providing more precise clinical evidence for the prenatal diagnosis of chromosomal mosaicisms.
Humans ; Female ; Mosaicism ; Pregnancy ; Karyotyping/methods* ; Artificial Intelligence ; Prenatal Diagnosis/methods* ; Adult ; Retrospective Studies ; Chromosome Disorders/genetics* ; Amniocentesis

Aim To explore the effect of astragalosideⅣ(AS-Ⅳ)on lipopolysaccharide(LPS)-induced po-larization and migration of RAW 264.7 macrophages and the underlying mechanism.Methods 1 mg·L-1 LPS was used to construct cell migration model.Scratch assay was utilized to determine cell migration rate.Immunofluorescence staining was utilized to de-tect the expression and location of F4/80,iNOS and Arg-1.CCK-8 assay was used to determine the viabili-ty of RAW 264.7 cells.Griess assay was used to measure NO content.Molecular docking was used to analyze the interaction between AS-Ⅳ and the core tar-gets such as cGAS and STING protein.Western blot was employed to detect the expression of iNOS,Arg-1,cGAS,STING,NF-κB p65 and p-NF-κB p65 protein.Results AS-Ⅳ significantly inhibited the migration and M1 polarization of RAW 264.7 cells induced by LPS.Moreover,AS-Ⅳ could interact with cGAS and STING protein,especially cGAS.Further Western blot assay showed that AS-Ⅳ significantly downregulated the expression of iNOS,cGAS,STING and p-NF-κB p65 protein.Conclusions AS-Ⅳ could promote mac-rophage M1 to M2 polarization,thereby inhibited mac-rophage migration through restraining the cGAS/STING/NF-κB signaling pathway,which provides a new therapeutic target for AS-Ⅳ to improve the early inflammatory response of AS.

Objective:To compare the consistency and efficacy of ultrasound and CT in the preoperative diagnosis of cervical lymph node metastasis in patients with thyroid cancer, and to explore the clinical value of the combined application of multimodal imaging.Methods:The 119 thyroid cancer patients underwent surgical treatment from January to September 2023 in Zhongshan Hospital Affiliated to Dalian University were retrospectively analyzed. All patients underwent ultrasound and CT examinations before operation. The results of postoperative histopathology examination were taken as the gold standard, the efficacy of ultrasound and CT in preoperative diagnosis of cervical lymph node metastasis was compared.Results:A total of 1 721 cervical lymph nodes were detected in 119 patients with thyroid cancer, among which 1 378 lymph nodes were benign, and 343 lymph nodes were malignant, the rate of malignant lymph nodes was 19.93% (343/1 721). Among them, the proportion of malignant lymph nodes in area Ⅵ was the highest, 22.58% (245/1 085), followed by area Ⅲ, 21.26% (37/174). The sensitivity of CT in diagnosing cervical lymph node metastasis in patients with thyroid cancer was significantly higher than that of ultrasound diagnosis: 58.46% (38/65) vs. 38.46% (25/65), the specificity was significantly lower than that of ultrasound diagnosis: 85.19% (46/54) vs. 96.30% (52/54), and there were statistical differences ( P<0.01 and <0.05); there was no statistical difference in accuracy between CT and ultrasound ( P>0.05). Conclusions:In the preoperative diagnosis of cervical lymph node metastasis in patients with thyroid cancer by ultrasound and CT, ultrasound examination has no radiation risk, while CT examination has a higher diagnostic efficiency.

Objective:To evaluate the accuracy of L-shaped reduction malarplasty under the guidance of virtual surgical planning (VSP).Methods:The data of adult female patients who were diagnosed with zygomatic protrusion or hypertrophy at Department of Orthognathic and Temporo-mandibular Joint Surgery, West China Hospital of Stomatology, Sichuan University, from January 2018 to December 2020 were analyzed retrospectively. L-shaped reduction malarplasty with or without bone resection and with the mortice and tenon joint structure on the zygomatic arch was conducted either by digital procedures comprising VSP and three-dimensional printing titanium templates (digtal surgery group) or by conventional method (control group). The incidence of postoperative complications and the patient postoperative satisfaction [using a Likert scale with a score ranging from 1 to 5, representing very dissatisfied, dissatisfied, average, satisfied and very satisfied, satisfaction rate = (very satisfied + satisfied)/ total number of patients × 100%] were statistically analyzed in the two groups. The differences in the postoperative symmetry of the zygomatic complex between the digital group and the control group were analyzed by three-dimensional cephalometry. The accuracy of VSP in L-shaped reduction malarplasty was evaluated by comparing the preoperative design model with the actual postoperative model in the digital group. The statistical analyses were conducted using SPSS 24.0 software. The chi-square test was used in the comparison of surgical complications and patient satisfaction rates. The symmetry of bilateral landmarks in the three-dimensional direction between the two groups was evaluated using the independent t-test, and the pre- and post-operative measurements in the digital group were compared using paired t-test. Results:A total of 78 patients were included, with 36 in the digital group, aged (25.2±3.6) years, and 42 in the control group, aged (24.3±2.8) years. Satisfactory reduction of zygomatic protrusion or hypertrophy was recognized among all patients. Compared with the control group, the digital group had lower percentage of complications [25% (9/36) vs. 55% (23/42)] and higher postoperative satisfaction [78% (28/36) vs. 48% (20/42)], both of which were statistically significant (all P<0.01). Regarding the symmetry of bilateral zygomatic complexes, the average deviations of ΔZb (bottom point of zygoma) in the digital group in the horizontal, vertical, and sagittal directions [(1.05±0.24), (1.05±0.24), (1.00±0.88) mm] were significantly smaller than those in the control group [(2.03±0.58), (1.32±0.68), (1.47±0.47) mm], with statistically significant differences (all P<0.05). The bone segment movements of virtual plans and actual result in the digital surgery group were measured and showed no obvious difference for the inward movement [(5.42±0.98) mm vs. (5.33±0.93) mm] and the sagittal overlap [(4.87±1.21) mm vs. (4.77±1.32) mm] at the zygoma roots, along with the step length at the long-arm of the L-shaped osteotomy line [(2.43±1.11) mm vs. (2.39±0.89) mm] (all P>0.05). The mean differences of facial width and protrusion measurements between virtual simulations and actual result in the digital group ranged from (1.13±0.47) mm to (2.07±0.88) mm, with no significant differences( P>0.05). Meanwhile, the high resemblance between virtual plans and actual result was depicted via superimposition models, with a deviation controlled within ±0.5 mm. Conclusion:The application of VSP in reduction malarplasty significantly improved surgical accuracy and reduced difficulties in the operation, which would improve patients’ postoperative satisfaction.

Objective:To retrieve, appraise and synthesize evidence regarding the prevention and management of high-output ileostomy in post-enterostomy patients, thereby providing a scientific reference for clinical practice.Methods:A computerized search was conducted, systematically exploring national and international databases, as well as the websites of pertinent associations, to gather evidence relevant to the topic. The literature types included clinical decision-making, evidence summaries, guidelines, expert consensus, and systematic reviews. The search timeframe was established from the date of database construction until 23 August 2024. The methodological quality assessment of the literature, along with the extraction and synthesis of the evidence, was performed by two independent researchers utilizing established criteria and adhering to rigorous standards.Results:A total of 13 papers were included in the review, comprising one clinical decision, four guidelines, and eight systematic reviews. Eighteen pieces of best evidence were distilled and summarized across six key areas: diagnosis and risk identification, fluid/diet/nutrition management, medication administration, skin management, monitoring and health education, and follow-up care.Conclusions:The clinical practice rationale for the prevention and management of high-output ileostomy in post-enterostomy patients, when summarized, would offer scientific and effective evidence-based support for practice changes by clinical care staff. The practical application and translation of this evidence should thoroughly consider the nuances of clinical practice in China, as well as individual patient differences, to ensure the effective implementation of the best evidence for maximizing patient benefit.

Transcatheter arterial embolization(TAE)is the mainstay for treating advanced hepatocellular carcinoma(HCC),and the performance of the embolization material is crucial in TAE.With the development of medical imaging and the birth of"X-ray-free"technologies,we designed a new dual-mode imaging material of dimethoxy tetraphenyl ethylene(DMTPE)via emulsification by mixing poly(N-iso-propylacrylamide-co-acrylic acid)(PNA)with lipiodol and fluorocarbons,which was evaluated for temperature sensitivity,stability,and dual-mode visualization in vitro.Additionally,blood vessel casting embolization and renal artery imaging were assessed in healthy rabbits.In a rabbit model with a VX2 tumor,the effectiveness of TAE for treating HCC was examined,with an emphasis on evaluating long-term outcomes of embolization and its effects on tumor growth,necrosis,and proliferation through imaging techniques.In vitro experiments confirmed that the temperature-sensitive dual-oil-phase Pickering emulsion had good flow,stable contrast,and embolism when the oil-to-oil ratio and water-to-oil ratio were both 7∶3(v/v)and stabilized with 8％PNA.Similarly,in vivo,arterial embolization confirmed the excellent properties of DMTPE prepared at the abovementioned ratios.It was observed that DMTPE not only has an antitumor effect but can also achieve dual imaging using X-rays and ultrasound,making it a promising excellent vascular embolization material for TAE in tumor treatment.

Objective:To evaluate the accuracy of L-shaped reduction malarplasty under the guidance of virtual surgical planning (VSP).Methods:The data of adult female patients who were diagnosed with zygomatic protrusion or hypertrophy at Department of Orthognathic and Temporo-mandibular Joint Surgery, West China Hospital of Stomatology, Sichuan University, from January 2018 to December 2020 were analyzed retrospectively. L-shaped reduction malarplasty with or without bone resection and with the mortice and tenon joint structure on the zygomatic arch was conducted either by digital procedures comprising VSP and three-dimensional printing titanium templates (digtal surgery group) or by conventional method (control group). The incidence of postoperative complications and the patient postoperative satisfaction [using a Likert scale with a score ranging from 1 to 5, representing very dissatisfied, dissatisfied, average, satisfied and very satisfied, satisfaction rate = (very satisfied + satisfied)/ total number of patients × 100%] were statistically analyzed in the two groups. The differences in the postoperative symmetry of the zygomatic complex between the digital group and the control group were analyzed by three-dimensional cephalometry. The accuracy of VSP in L-shaped reduction malarplasty was evaluated by comparing the preoperative design model with the actual postoperative model in the digital group. The statistical analyses were conducted using SPSS 24.0 software. The chi-square test was used in the comparison of surgical complications and patient satisfaction rates. The symmetry of bilateral landmarks in the three-dimensional direction between the two groups was evaluated using the independent t-test, and the pre- and post-operative measurements in the digital group were compared using paired t-test. Results:A total of 78 patients were included, with 36 in the digital group, aged (25.2±3.6) years, and 42 in the control group, aged (24.3±2.8) years. Satisfactory reduction of zygomatic protrusion or hypertrophy was recognized among all patients. Compared with the control group, the digital group had lower percentage of complications [25% (9/36) vs. 55% (23/42)] and higher postoperative satisfaction [78% (28/36) vs. 48% (20/42)], both of which were statistically significant (all P<0.01). Regarding the symmetry of bilateral zygomatic complexes, the average deviations of ΔZb (bottom point of zygoma) in the digital group in the horizontal, vertical, and sagittal directions [(1.05±0.24), (1.05±0.24), (1.00±0.88) mm] were significantly smaller than those in the control group [(2.03±0.58), (1.32±0.68), (1.47±0.47) mm], with statistically significant differences (all P<0.05). The bone segment movements of virtual plans and actual result in the digital surgery group were measured and showed no obvious difference for the inward movement [(5.42±0.98) mm vs. (5.33±0.93) mm] and the sagittal overlap [(4.87±1.21) mm vs. (4.77±1.32) mm] at the zygoma roots, along with the step length at the long-arm of the L-shaped osteotomy line [(2.43±1.11) mm vs. (2.39±0.89) mm] (all P>0.05). The mean differences of facial width and protrusion measurements between virtual simulations and actual result in the digital group ranged from (1.13±0.47) mm to (2.07±0.88) mm, with no significant differences( P>0.05). Meanwhile, the high resemblance between virtual plans and actual result was depicted via superimposition models, with a deviation controlled within ±0.5 mm. Conclusion:The application of VSP in reduction malarplasty significantly improved surgical accuracy and reduced difficulties in the operation, which would improve patients’ postoperative satisfaction.

AIM To study the chemical constituents from Euphorbia humifusa Willd.and their in vitro anti-hepatoma activity.METHODS Silica gel,D101 macroporous adsorption resin and semi-preparative RP-HPLC were used for isolated and purified,then the structures of obtained compounds were identified by physicochemical properties and spectral data.The anti-hepatocellular carcinoma activity was determined by MTT mothod.RESULTS Eighteen compounds were isolated and identified as 22-O-angeloyl-R1-barrigenol(1),dimethyl 3,3'-[oxybis(4,1-phenylene)](2E,2'E)-diacrylate(2),N-(3-methoxy-1,3-dioxopropyl)-D-tryptophan methyl ester(3),N-acetyltryptophan methyl ester(4),N-(methoxycarbonyl)-tryptophan methyl ester(5),(3β,5α,17β)-4,4,8,14-tetramethyl-18-norandrostane-3,17-diol(6),3β,18,19β-trihydroxylupane(7),pregnenolone(8),3-hydroxy-5,6-epoxy-7-megastigmen-9-one(9),dehydrovomifoliol(10),loliolide(11),2,2'-oxybis(1,4-di-tert-butylbenzene)(12),dibutyl phthalate(13),4-methoxycinnamic acid(14),3,4-dimethoxycinnamic acid(15),methyl 4-hydroxybenzoate(16),kaempferol(17),quercetin(18).The IC50 values of compounds 1,7 and 8 on HepG2 cells were(17.27±0.92),(19.11±2.14)and(7.53±1.09)μmol/L,respectively.CONCLUSION Compounds 1-16 are first isolated from this plant.Compounds 1,7 and 8 have anti-hepatoma activity.

Purpose To investigate the relationship between SERPINA4 expression and clinicopathological fea-tures and prognosis in metastatic colorectal cancer(CRC).Methods EnVision two-step immunohistochemical method was used to detect the expression of SERPINA4 protein in 104 cases of primary and metastatic tumor paraffin tissues of metastatic colorectal cancer and adjacent intestinal normal mucosa,and its relationship with clinicopathological features of patients was analyzed.qRT-PCR was used to detect the expression of SERPINA4 mRNA in 11 pairs of metastatic CRC metastases and paired primary tumor paraffin-embedded tissue samples.The survival of patients was followed up,and the relationship between SERPINA4 expression and patient prognosis was analyzed by Kaplan-Meier method.Re-sults Immunohistochemical results showed that the strong positive expression rate of SERPINA4 was 97.10％in nor-mal mucosa,71.20％in primary lesions,and 39.40％in metastatic lesions.The difference between the three groups was statistically significant(P＜0.001).qRT-PCR results showed that SERPINA4 mRNA was lowly expressed in me-tastatic lesions of metastatic CRC(P＜0.05).The expression of SERPINA4 in metastatic lesions was significantly cor-related with histological grade,N stage and M stage of the tumor(P＜0.05),but not significantly correlated with age,gender,tumor location and T stage of patients(P＞0.05).The survival time of patients with metastatic colorectal cancer with high expression of SERPINA4 was longer than that of patients with low expression.Conclusion The ex-pression of SERPINA4 is of great significance in the survival and prognosis of patients with metastatic CRC.

Recent studies have shown that the physiological homeostasis of oral mucosal cells is regulated by the circadian clock.Dis-ruption or dysfunction of the circadian clock is closely associated with the development of oral squamous cell carcinoma(OSCC).Research based on the circadian clock offers a novel perspective on the pathogenesis and therapeutic strategies for OSCC.However,there is current-ly limited research on this topic,and people generally have insufficient understanding and recognition of the circadian clock.Given the complexity and challenges of circadian clock which is the fourth dimension of medical research,we organize relevant experts based on summarizing the current research results of circadian clock in the pathogenesis and precision diagnosis and treatment of OSCC,combining the scientific principles of the circadian clock's role and their long-term research experience,then summarizes and recommends the con-sensus opinions for the research of circadian clock in the pathogenesis mechanism and precision diagnosis and treatment of human OSCC,with the hope of providing guidance for the basic research and clinical application of circadian clock or circadian rhythm in the pathogene-sis mechanism and precision diagnosis and treatment of oral and maxillofacial squamous cell carcinoma.