ObjectiveTo investigate the diagnostic accuracy and grading capability of ultrasound-derived fat fraction （UDFF）， controlled attenuation parameter （CAP）， and hepatic/renal ratio （HRR） in assessing hepatic steatosis in metabolic associated fatty liver disease （MAFLD） with magnetic resonance imaging-proton density fat fraction （MRI-PDFF） as the gold standard. MethodsA total of 150 patients with MAFLD who attended The First Hospital of Hebei Medical University from January 2023 to December 2024 were enrolled， and 148 healthy volunteers were recruited. All subjects underwent MRI-PDFF， UDFF， CAP， and HRR examinations. Hepatic steatosis was graded based on MRI-PDFF （S0：148 cases； S1：92 cases； S2：21 cases； S3：37 cases）， and the MAFLD patients with different grades of hepatic steatosis were compared in terms of UDFF， CAP， HRR， and clinical features. A one-way analysis of variance was used for comparison of normally distributed continuous data between multiple groups and the Tukey HSD test was used for further comparision between two groups； the Kruskal-Wallis H test was used for comparison of non-normally distributed continuous data between multiple groups， and the Mann-Whitney U test was used for further comparison between two groups； the chi-square test was used for comparison of categorical data between groups. The Spearman correlation analysis was used to investigate the correlation between UDFF， CAP， HRR， and MRI-PDFF in different grades of MAFLD； the receiver operating characteristic （ROC） curve was used to investigate the efficacy of UDFF， CAP， and HRR in the diagnosis of different degrees of hepatic steatosis in MAFLD； the Bland-Altman difference plot was used to analyze the consistency between UDFF and MRI-PDFF in different degrees of hepatic steatosis in MAFLD. ResultsUDFF measurement gradually increased with the increase in the grade of fatty liver （H=201.52，P0.001）. The Spearman correlation analysis showed that there was a strong correlation between any two indicators of UDFF， CAP， HRR， and MRI-PDFF in S1， S2， and S3 MAFLD （all P0.001）， with the strongest correlation between UDFF and MRI-PDFF （r_s1=0.884，r_s2=0.962，r_s3=0.929， all P0.001）. The ROC curve analysis showed that UDFF had a larger area under the ROC curve （AUC） than CAP and HRR in the graded diagnosis of S1 and S3 （all P0.05）， while in the diagnosis of S2 MAFLD， UDFF had a significantly larger AUC than HRR （P0.05） and a similar AUC to CAP （P0.05）. The Bland-Altman difference plot showed good consistency between UDFF and MRI-PDFF in different degrees of hepatic steatosis in MAFLD. ConclusionCompared with CAP and HRR， UDFF can accurately measure liver fat content and has good efficacy in identifying varying degrees of hepatic steatosis in MAFLD.

Objective To investigate the expression changes of interferon gene stimulating factor(STING)and E-box zinc finger binding protein 1(ZEB1)in elderly cervical cancer(CCA)patients and their correlation with human papillomavirus(HPV)infection.Methods Sixty-two patients with CCA who underwent patho-logical examination in this hospital from January 2021 to September 2022 were selected as the CCA group,65 patients with cervical intraepithelial neoplasia(CIN)as the CIN group,and 63 patients with normal cervix as the control group.The positive expression rates of cervical STING and ZEB1 and high-risk HPV infection in each group were observed and recoraded.The correlation of STING and ZEB1 levels with clinicopathological features of CCA and high-risk HPV infection was analyzed.Results The positive expression rates of STING and ZEB1 in CCA group were higher than those in CIN group and control group,and the level of ZEB1 in CIN group was higher than that in control group,with statistical significance(P＜0.05).The detection rates of HPV16 and 18 in CCA group were higher than those in CIN group and control group,and the detection rates of HPV16 and 18 in CIN group were higher than those in control group,the differences were statistically sig-nificant(P＜0.05).The infiltration depth and FIGO stage of CCA patients were correlated with the positive expression rates of STING and ZEB1,the degree of tumor differentiation and lymph node metastasis were cor-related with the positive expression rates of STING(P＜0.05),and the positive expression rates of STING and ZEB1 in CCA patients were positively correlated with the infection rates of HPV16 and 18(P＜0.05).Conclusion The positive expression levels of STING and ZEB1 proteins in the CCA group are higher than those in the control group and CIN group,and their expression levels were related to FIGO staging and depth of cervical cancer infiltration.STING and ZEB1 proteins are positively correlated with HPV16 and 18 infec-tion,and STING and ZEB1 proteins may jointly act with HPV16 and 18 on the occurrence and development of CCA.

Hypertension (HT) can induce aortic dissection (AD) by increasing the tension of the aortic wall and promoting tissue degradation, and continuous HT may increase the risk of aortic-related death. It is a significant factor in poor prognosis for AD and the most important controllable factor. Research has shown that blood pressure management after AD can reduce the incidence rate and mortality of AD, so controlling HT is an important goal and means of AD treatment. This article reviews the research progress on the impact of AD on blood pressure, the significance and methods of blood pressure management after AD, with the hope of providing reference for the treatment of AD patients and benefiting them.

Objective:To evaluate the effect of controlled low central venous pressure (CLCVP) induced by milrinone on intraoperative cerebral blood flow in the patients undergoing laparoscopic hepatectomy.Methods:Eighty American Society of Anesthesiologists Physical Status classification Ⅰ-Ⅲ patients, regardless of gender, scheduled for elective laparoscopic hepatectomy, with body mass index of 18-30 kg/m 2, aged 18-64 yr, were divided into 2 groups ( n=40 each) by a random number table method: nitroglycerin group (X group) and milrinone group (M group). After the start of surgery, milrinone 0.5 μg·kg -1·min -1 was continuously infused in group M and nitroglycerin 0.5-1.5 μg·kg -1·min -1 was continuously infused in group X to maintain central venous pressure (CVP)<5 cmH 2O. Norepinephrine 0.01-0.10 μg·kg -1·min -1 was intravenously injected during operation to maintain mean arterial pressure at 60-90 mmHg. Norepinephrine 8-16 μg was intravenously injected when necessary. At 10 min after tracheal intubation (T 1), after establishment of pneumoperitoneum (T 2), at 5 and 30 min after CVP reached the target value (T 3, T 4), at 5 min after CVP returned to normal value (T 5) and at the end of surgery (T 6), the internal carotid artery mean blood flow velocity, internal carotid artery blood flow, cardiac output, and cardiac index were recorded. The surgical field score, consumption of intraoperative norepinephrine, fluid input and output, and occurrence of adverse reactions at 7 days after operation were recorded. Results:Compared with group X, the cardiac output, cardiac index, internal carotid artery mean blood flow velocity and internal carotid artery blood flow were significantly increased, the consumption of intraoperative norepinephrine was decreased, and the surgical field score was increased at T 3-5 in group M ( P<0.05). There was no significant difference in the intraoperative fluid intake and output and incidence of postoperative adverse reactions at each time point between the 2 groups ( P>0.05). Conclusions:Compared with nitroglycerin-induced CLCVP, milrinone-induced CLCVP can improve the reduction in intraoperative cerebral blood flow in the patients undergoing laparoscopic hepatectomy to some extent.

Objective:To explore the method of constructing automatic delineation model for clinical target volume (CTV) and partially organs at risk (OAR) of postoperative radiotherapy for prostate cancer based on convolutional neural network, aiming to improve the clinical work efficiency and the unity of target area delineation.Methods:Postoperative CT data of 117 prostate cancer patients manually delineated by one experienced clinician were retrospectively analyzed. A multi-class auto-delineation model was designed based on 3D UNet. Dice similarity coefficient (DSC), 95% Hausdorf distance (95%HD), and average surface distance (ASD) were used to evaluate the segmentation ability of the model. In addition, the segmentation results in the test set were evaluated by two senior physicians. And the CT data of 78 patients treated by other physicians were also collected for external validation of the model. The automatic segmentation of these 78 patients by CTV-UNet model was also evaluated by two physicians.Results:The mean DSC for tumor bed area (CTV1), pelvic lymph node drainage area (CTV2), bladder and rectum of CVT-UNet auto-segmentation model in the test set were 0.74, 0.82, 0.94 and 0.79, respectively. Both physicians' scoring results of the test set and the external validation showed more consensus on the delineation of CTV2 and OAR. However, the consensus of CTV1 delineation was less.Conclusions:The automatic delineation model based on convolutional neural network is feasible for CTV and related OAR of postoperative radiotherapy for prostate cancer. The automatic segmentation ability of tumor bed area still needs to be improved.

OBJECTIVE: To explore the clinical characteristics and genetic basis of two brothers featuring X-linked alpha thalassemia mental retardation (ATR-X) syndrome. METHODS: An infant who had presented at the Qilu Children's Hospital in 2020 for unstable upright head and inability to roll over and his family were selected as the study subjects. The clinical features of the child and one of his brothers were summarized, and their genomic DNA was subjected to targeted capture and next generation sequencing (NGS). RESULTS: The brothers had presented with mental retardation and facial dysmorphisms. NGS revealed that they had both harbored a hemizygous c.5275C>A variant of the ATRX gene located on the X chromosome, which was inherited from their mother. CONCLUSION The siblings were diagnosed with ATR-X syndrome. The discovery of the c.5275C>A variant has enriched the mutational spectrum of the ATRX gene.
Humans ; Infant ; Male ; alpha-Thalassemia/diagnosis* ; Ataxia Telangiectasia Mutated Proteins/genetics* ; East Asian People ; Intellectual Disability/genetics* ; Mental Retardation, X-Linked/diagnosis* ; Pedigree ; X-linked Nuclear Protein/genetics*

Chronic alcohol consumption causes liver steatosis, cell death, and inflammation. Melatonin (MLT) is reported to alleviate alcoholic liver disease (ALD)-induced injury. However, its direct regulating targets in hepatocytes are not fully understood. In the current study, a cell-based screening model and a chronic ethanol-fed mice ALD model were used to test the protective mechanisms of MLT. MLT ameliorated ethanol-induced hepatocyte injury in both cell and animal models (optimal doses of 10 μmol/L and 5 mg/kg, respectively), including lowered liver steatosis, cell death, and inflammation. RNA-seq analysis and loss-of-function studies in AML-12 cells revealed that telomerase reverse transcriptase (TERT) was a key downstream effector of MLT. Biophysical assay found that epidermal growth factor receptor (EGFR) on the hepatocyte surface was a direct binding and regulating target of MLT. Liver specific knock-down of Tert or Egfr in the ALD mice model impaired MLT-mediated liver protection, partly through the regulation of nuclear brahma-related gene-1 (BRG1). Long-term administration (90 days) of MLT in healthy mice did not cause evident adverse effect. In conclusion, MLT is an efficacious and safe agent for ALD alleviation. Its direct regulating target in hepatocytes is EGFR and downstream BRG1-TERT axis. MLT might be used as a complimentary agent for alcoholics.

OBJECTIVE: To analyze the clinical characteristics and genetic basis of two children patients with CHARGE syndrome. METHODS: The clinical features of the two patients were analyzed, and potential variants were detected by Trio whole exome sequencing (trio-WES) of the probands and their parents. RESULTS: Child 1 has manifested cerebellar vermis dysplasia, enlargement of cerebral ventricles, whereas child 2 manifested with infantile spasm and congenital hip dysplasia. Both children were found to harbor de novo heterozygous variants of the CHD7 gene, namely c.4015C>T (exon 17) and c.5050G>A (exon 22). Based on the guidelines of the American College of Medical Genetics and Genomics, the two variants were rated as pathogenic variants, and the related disease was CHARGE syndrome. Furthermore, child 2 was also found to harbor a novel heterozygous c.6161A>C (p.Gln2054Pro) missense variant of COL12A1 gene, which was rated as possibly pathogenic, and the associated disease was Bethlem myopathy type 2, which is partially matched with the patient' s clinical phenotype. CONCLUSION The special clinical phenotypes shown by the two children harboring novel CHD7 variants have further expanded the phenotypic spectrum of CHARGE syndrome.
CHARGE Syndrome/genetics* ; DNA Helicases/genetics* ; DNA-Binding Proteins/genetics* ; Genetic Testing ; Heterozygote ; Humans ; Mutation ; Phenotype ; Whole Exome Sequencing

Objective:To evaluate the effect of preoperative oral carbohydrate on gastric emptying in the patients undergoing laparoscopic cholecystectomy.Methods:One hundred patients of both sexes, aged 18-64 yr, with body mass index of 18-30 kg/m 2, of American Society of Anesthesiologists physical status Ⅰ or Ⅱ, were divided into 2 groups ( n=50 each) using the random number table method: control group (group C) and preoperative oral carbohydrate group (group P). Patients underwent solid food fasting after 20: 00 on the night before surgery in both groups and drinking fasting after 21: 30 on the night before surgery in group C. Group P received 800 ml of 12.5% oral carbohydrate at 21: 30 on the night before surgery and 400 ml of oral similar carbohydrate from 5: 00 to 5: 30 in the morning before surgery.All the patients underwent ultrasound examination of the gastric sinus at 7: 30 on the operation day (2 h after oral carbohydrate, T 1) to determine the nature of gastric contents according to the qualitative analysis of images, and Perlas grade was performed, and the cross-sectional area (CSA) of the gastric sinus in a semi-sitting position and right lateral decubitus position was calculated, and gastric volume (GV) and gastric volume to weight ratio (GV/W) were calculated.For solids in the stomach or GV > 1.5 ml/kg was defined as a full stomach.Patients assessed as a full stomach at T 1 underwent antrum ultrasonography again before induction of anesthesia (at 3 h after oral carbohydrate, T 2). The occurrence of satiety at T 1 and T 2 in each group was recorded.The patient′s hunger score, thirst score, and satisfaction score during fasting were recorded at T 2.The reflux aspiration, occurrence of nausea and vomiting at 24 h after operation, postoperative time to first flatus and postoperative total length of hospital stay were recorded. Results:Compared with group C, the CSA in a semi-sitting position, CSA, GV and GV/W ratio in a right lateral decubitus position, incidence of satiety, and Perlas grade were significantly increased at T 1 ( P<0.05), no significant change was found in the incidence of satiety at T 2 ( P>0.05), preoperative hunger and thirst scores were significantly decreased, satisfaction scores were increased, the incidence of nausea and vomiting was decreased at 24 h after surgery, and the postoperative time to first flatus was shortened ( P<0.05), and no significant change in the postoperative total length of hospital stay was found in group P ( P>0.05). Conclusions:Oral carbohydrates before laparoscopic cholecystectomy may result in delayed gastric emptying in the patients with cholelithiasis, and the time window for oral carbohydrates can be appropriately shifted forward (3 h before surgery).

Congenital disorder of glycosylation (CDG) is a group of genetic metabolic diseases involving multiple organs. A case of CDG caused by SLC35A2 gene mutation was diagnosed. The clinical characteristics included spasms, developmental retardation and multiple malformations. Video-electroencephalogram showed dysrhythmia. A de novo heterozygous missense mutation of SLC35A2 gene was detected by whole exome sequencing: c.844G>A (p.Gly282Arg). It was predicted to be likely pathogenic according to American College of Medical Genetics and Genomics guidelines which had not been reported in China.