ObjectiveTo establish and validate a new prediction model for the risk of death in patients with acute-on-chronic liver failure （ACLF） based on sarcopenia and other clinical indicators， and to improve the accuracy of prognostic assessment for ACLF patients. MethodsA total of 380 patients with ACLF who were admitted to Beijing YouAn Hospital， Capital Medical University， from January 2019 to January 2022 were enrolled， and they were divided into training group with 228 patients and testing group with 152 patients in a ratio of 6∶4 using the stratified random sampling method. For the training group， CT images were used to measure the cross-sectional area of the skeletal muscle at the third lumbar vertebra （L3）， and L3 skeletal muscle index （L3-SMI） was calculated. Sarcopenia was diagnosed based on the previously established L3-SMI reference values for healthy adults in northern China. Univariate and multivariable Cox regression analyses were used to establish a sarcopenia-ACLF model which integrated sarcopenia and clinical risk factors， and a nomogram was developed for presentation. The area under the ROC curve （AUC） was used to assess the predictive performance of the model， the calibration curve was used to assess the degree of calibration， and a decision curve analysis was used to investigate the clinical application value of the model. The independent-samples t test or the Mann-Whitney U test was used for comparison of continuous data between two groups， and the chi-square test was used for comparison of categorical data between two groups. The Kaplan-Meier method was used to plot survival curves， and the Log-rank test was used for comparison between groups. The DeLong test was used for comparison of AUC between different models. ResultsThe multivariate Cox regression analysis showed that sarcopenia （hazard ratio ［HR］=1.962， 95% confidence interval ［CI］： 1.185‍ ‍—‍ ‍3.250， P=0.009）， total bilirubin （HR=1.003， 95%CI： 1.002‍ ‍—‍ ‍1.005， P<0.001）， international normalized ratio （HR=1.997， 95%CI： 1.674‍ ‍—‍ ‍2.382， P<0.001）， and lactic acid （HR=1.382， 95%CI： 1.170‍ ‍—‍ ‍1.632， P<0.001） were included in the sarcopenia-ACLF model. In the training cohort， the sarcopenia-ACLF model had a larger AUC than MELD-Na score in predicting 90-day mortality in patients with ACLF （0.80 vs 0.73， Z=1.97， P=0.049）. In the test cohort， the sarcopenia-ACLF model had a significantly larger AUC than MELD score （0.79 vs 0.69， Z=2.70， P=0.007） and MELD-Na score （0.79 vs 0.68， Z=2.92， P=0.004）. The calibration curve showed that the model had good calibration ability， with a relatively good consistency between the predicted risk of mortality and the observed results. The DCA results showed that within a reasonable range of threshold probabilities， the sarcopenia-ACLF model showed a greater net benefit than MELD and MELD-Na scores in both the training cohort and the test cohort. ConclusionThe sarcopenia-ACLF model developed in this study provides a more accurate tool for predicting the risk of 90-day mortality in ACLF patients， which provides support for clinical decision-making and helps to optimize treatment strategies.

The incidence rate of thyroid cancer has been rising in recent years. How to accurately distinguish malignant and benign thyroid nodules before surgery has become an important research direction. Ultrasound, as a non-invasive and fast examination method, has been widely used in clinical practice. Some typical ultrasound features, such as calcification, unclear boundaries, multiple lesions, low echo, and aspect ratio>1, can indicate the occurrence of thyroid cancer before surgery. Further analysis of these ultrasound features is still a focus of current research. This article will review the expression and distribution of calcification, a typical ultrasound feature, in benign and malignant thyroid nodules, in order to provide a basis for predicting the malignancy of thyroid nodules based on the characteristics of calcification under preoperative ultrasound.

Objective:To utilize single-cell RNA sequencing (scRNA-seq) to untangle the temporal expression profiles of molecules associated with congenital tooth agenesis and dental hard tissue formation during mouse molar development, and to construct a comprehensive cell atlas spanning the entire developmental period from E13.5 to P7.5, thereby providing new insights into the molecular mechanisms underlying abnormal tooth development.Methods:scRNA-seq data of murine mandibular molar tooth germs at five developmental stages (E13.5, E14.5, E16.5, P3.5, P7.5) were obtained from the GEO database (accession: GSE189381). The Seurat pipeline was employed for quality control, data normalization, dimensionality reduction, and Harmony-based batch effect correction. Cellular subpopulations were identified through uniform manifold approximation and projection dimensionality reduction, while developmental trajectories were reconstructed using Monocle for pseudotime analysis.Results:scRNA-seq analysis profiling identified 27 distinct cellular clusters, which were annotated into twelve major cell types including epithelial cells, mesenchymal cells, and endothelial cells. Msx1 exhibited a bimodal expression pattern. Pax9 reached its peak at E14.5 and then gradually decreased. Eda had a low expression level with a diffuse distribution. In contrast, Amelx and Enam were barely expressed during the embryonic stage and were activated at P3.5. Dspp was ectopically highly expressed in epithelial cells from P3.5 to P7.5, while Dmp1 was specifically upregulated in mesenchymal cells at P7.5.Conclusions:The temporal expression patterns of key regulatory genes for tooth agenesis (Msx1, Pax9, Eda), ameloblast differentiation (Amelx, Enam), and odontoblast development (Dspp, Dmp1) during mouse molar development. These findings provide a theoretical foundation and potential therapeutic targets for deciphering the molecular mechanisms underlying tooth agenesis and other developmental dental anomalies, paving the way for targeted clinical interventions.

Objective:To utilize single-cell RNA sequencing (scRNA-seq) to untangle the temporal expression profiles of molecules associated with congenital tooth agenesis and dental hard tissue formation during mouse molar development, and to construct a comprehensive cell atlas spanning the entire developmental period from E13.5 to P7.5, thereby providing new insights into the molecular mechanisms underlying abnormal tooth development.Methods:scRNA-seq data of murine mandibular molar tooth germs at five developmental stages (E13.5, E14.5, E16.5, P3.5, P7.5) were obtained from the GEO database (accession: GSE189381). The Seurat pipeline was employed for quality control, data normalization, dimensionality reduction, and Harmony-based batch effect correction. Cellular subpopulations were identified through uniform manifold approximation and projection dimensionality reduction, while developmental trajectories were reconstructed using Monocle for pseudotime analysis.Results:scRNA-seq analysis profiling identified 27 distinct cellular clusters, which were annotated into twelve major cell types including epithelial cells, mesenchymal cells, and endothelial cells. Msx1 exhibited a bimodal expression pattern. Pax9 reached its peak at E14.5 and then gradually decreased. Eda had a low expression level with a diffuse distribution. In contrast, Amelx and Enam were barely expressed during the embryonic stage and were activated at P3.5. Dspp was ectopically highly expressed in epithelial cells from P3.5 to P7.5, while Dmp1 was specifically upregulated in mesenchymal cells at P7.5.Conclusions:The temporal expression patterns of key regulatory genes for tooth agenesis (Msx1, Pax9, Eda), ameloblast differentiation (Amelx, Enam), and odontoblast development (Dspp, Dmp1) during mouse molar development. These findings provide a theoretical foundation and potential therapeutic targets for deciphering the molecular mechanisms underlying tooth agenesis and other developmental dental anomalies, paving the way for targeted clinical interventions.

Objective:To carry out preimplantation genetic testing (PGT) for a Chinese pedigree affected with Rett syndrome (RTT).Methods:A pedigree affected with RTT who had presented at the First Hospital of Jilin University on June 4, 2021 was selected as the study subject. Variant of the MECP2 gene was analyzed by next generation sequencing (NGS) and Sanger sequencing. Direct sequencing was also used to determine the carrier status for the c. 925C>T variant of the MECP2 gene in the blastocysts, and Sanger sequencing was used to validate the results. The MECP2 gene and 168 effective single nucleotide polymorphism (SNP) loci within 2 Mb ranges up- and downstream of the gene were used to construct a haplotype for analyzing the variant site in the embryos, and embryos without the variant were subjected to the analysis for chromosomal aneuploidies. Results:PGT analysis revealed that five out of seven blastocysts did not harbor the pathogenic variant. The results of aneuploidy analysis indicated that two out of five blastocysts without the variant were euploid. Following genetic counselling, the couple had opted to transplant the optimal blastocyst. Following clinical pregnancy, prenatal diagnosis showed that the fetus has a normal chromosomal karyotype, and the c. 925C>T variant was not detected in the amniotic fluid sample. A healthy girl was born by Cesarean section at full term.Conclusion:NGS can attain efficient PGT detection and reduce the risk of disease recurrence in families affected with RTT.

Objective To establish an evaluation index system for medical services provided by primary diagnosis physi-cian groups in tertiary public hospitals,using the Delphi method and Analytic Hierarchy Process(AHP).Methods Based on existing policies and relevant literature,initial indicators were formulated.The Delphi method was used in two rounds to deter-mine the index system,with a participation rate of 100%and high expert authority coefficients(Round 1:Cr=0.851,Round 2:Cr=0.839).The AHP was then applied to calculate the weights of the indicators.Results The evaluation index system for medical services provided by primary diagnosis physician groups was established through two rounds of expert consultations.The AHP yielded the weights of the indicators,with four primary indicators:internal processes(0.406),finance(0.288),learning and growth(0.208),and customer(0.098),and 25 secondary indicators.The consistency ratio(CR)values for the weights of the indicators were all less than 0.01.Conclusion The proposed index system is scientific and feasible for evaluating medical services provided by primary diagnosis physician groups in tertiary public hospitals.It can be applied in hospital department man-agement to further enhance the quality of medical services and the level of hospital refinement management.

Objective:To investigate the risk factors for anterior circulation and posterior circulation symptomatic intracranial atherosclerotic stenosis (sICAS).Methods:The clinical data of patients admitted to Hebei General Hospital for ischemic stroke or transient ischemic attack (TIA) and diagnosed with sICAS by digital subtraction angiography from May 2019 to May 2020 were retrospectively included. The patients were divided into anterior circulation group and posterior circulation group according to the stenosis sites, and the distribution of sICAS and its risk factors were analyzed.Results:A total of 134 patients with sICAS were enrolled, including 82 males (61.2%) and 52 females (38.8%). Their age was 60.28±11.46 years; 115 (85.8%) had ischemic stroke and 19 (14.2%) had TIA. There were 92 patients (68.7%) in the anterior circulation group and 42 (31.3%) in the posterior circulation group. Body mass index (BMI), systolic and diastolic blood pressure levels, as well as the proportion of patients with hypertension, diabetes, smoking and drinking in the posterior circulation group were significantly higher than those in the anterior circulation group (all P<0.05). Multivariate logistic regression analysis showed that higher BMI (odds ratio [ OR] 1.191, 95% confidence interval [ CI] 1.029-1.379; P=0.019), hypertension ( OR 4.073, 95% CI 1.135-14.616; P=0.031) and diabetes ( OR 2.783, 95% CI 1.149-6.738; P=0.023) were independently correlated with the posterior circulation sICAS. Conclusions:Compared with anterior circulation, high BMI, hypertension and diabetes are the independent risk factors for posterior circulation sICAS.

Objective:To investigate the correlation between total MRI burden and serum uric acid level in patients with cerebral small vessel disease(CSVD) and its gender differences.Methods:A total of 217 patients with CSVD were retrospectively included as the research objects, and the clinical data such as serum uric acid value were collected.The imaging findings of patients with CSVD were evaluated by MRI, and the total MRI burden score of CSVD was calculated.According to the total MRI burden score of CSVD, patients with CSVD were divided into mild-to-moderate burden group ( n=133) and severe burden group ( n=84). SPSS 20.0 software was used for data analysis and processing.Logistic regression was used to analyze the relationship between uric acid and the total MRI burden score of CSVD. Results:The serum uric acid of severe burden group was higher than that of mild-to-moderate burden group((326.94±70.95)μmol/L, (293.42±80.52)μmol/L, P=0.002). The multivariate logistic regression analysis showed that the elevated level of serum uric acid was an independent risk factors for total MRI burden of CSVD ( β=0.005, OR=1.005, 95% CI=1.001-1.009, P=0.019). The patients with CSVD were equally divided into four group based on the serum uric acid concentration.After controlling the confounding factors, with the increase of uric acid level, the risk of aggravating total MRI burden score of CSVD increased, and the difference was statistically significant( P=0.001). Serum uric acid(for each quartile increase)was an independent risk factor for total MRI burden in male patients with CSVD( β=0.482, OR=1.619, 95% CI=1.125-2.330, P=0.010), while there was no significant difference in female patients( P=0.070). Conclusion:Serum uric acid level is a risk factor for increasing the total MRI burden in male patients with CSVD, but this effect is not found in female patients with CSVD.

Endovascular thrombectomy (EVT) has become an effective treatment for acute large vessel occlusive ischemic stroke. Because there are many common etiologies and pathogenesis between cerebral small vessel disease (CSVD) and large vessel disease, patients with large vessel occlusive ischemic stroke are often accompanied by imaging manifestations of CSVD. In recent years, with the wide application of EVT in the treatment of acute ischemic stroke, more and more studies have investigated the relationship between CSVD and the outcome of patients treated with EVT. This article reviews the relationship between various imaging phenotypes of CSVD and the outcome of acute ischemic stroke patients treated with EVT and its possible mechanism.

Adiponectin is a kind of cytokines secreted by adipose tissue, which has the functions of regulating glucose and lipid metabolism, protecting vascular endothelium, promoting angiogenesis, and anti-inflammatory. Recent studies have shown that there is a certain correlation between adiponectin and vascular cognitive impairment and its risk factors. This article reviews the relationship between adiponectin and vascular cognitive impairment, especially its risk factors.