Association between congenital hypothyroidism and in-hospital adverse outcomes in very low birth weight infants / 中华儿科杂志

Objective: To investigate the association between congenital hypothyroidism (CH) and the adverse outcomes during hospitalization in very low birth weight infants (VLBWI). Methods: This prospective, multicenter observational cohort study was conducted based on the data from the Sino-northern Neonatal Network (SNN). Data of 5 818 VLBWI with birth weight <1 500 g and gestational age between 24-<37 weeks that were admitted to the 37 neonatal intensive care units from January 1st, 2019 to December 31st, 2022 were collected and analyzed. Thyroid function was first screened at 7 to 10 days after birth, followed by weekly tests within the first 4 weeks, and retested at 36 weeks of corrected gestational age or before discharge. The VLBWI were assigned to the CH group or non-CH group. Chi-square test, Fisher exact probability method, Wilcoxon rank sum test, univariate and multivariate Logistic regression were used to analyze the relationship between CH and poor prognosis during hospitalization in VLBWI. Results: A total of 5 818 eligible VLBWI were enrolled, with 2 982 (51.3%) males and the gestational age of 30 (29, 31) weeks. The incidence of CH was 5.5% (319 VLBWI). Among the CH group, only 121 VLBWI (37.9%) were diagnosed at the first screening. Univariate Logistic regression analysis showed that CH was associated with increased incidence of extrauterine growth retardation (EUGR) (OR=1.31(1.04-1.64), P<0.05) and retinopathy of prematurity (ROP) of stage Ⅲ and above (OR=1.74(1.11-2.75), P<0.05). However, multivariate Logistic regression analysis showed no significant correlation between CH and EUGR, moderate to severe bronchopulmonary dysplasia, grade Ⅲ to Ⅳ intraventricular hemorrhage, neonatal necrotizing enterocolitis in stage Ⅱ or above, and ROP in stage Ⅲ or above (OR=1.04 (0.81-1.33), 0.79 (0.54-1.15), 1.15 (0.58-2.26), 1.43 (0.81-2.53), 1.12 (0.70-1.80), all P>0.05). Conclusion: There is no significant correlation between CH and in-hospital adverse outcomes, possibly due to timely diagnosis and active replacement therapy.

Efficacy comparison between iliosacral screw fixation of the posterior pelvic ring fracture with the assistance of modified percutaneous three-dimensional printing guide template and conventional fluoroscopy / 中南大学学报(医学版)

Objective:The effect of three-dimensional(3D)printed bone-attached guide plate assisted cannulated screw fixation of pelvic fracture is reliable,but extensive soft tissue dissection is still required when installing the guide plate.This study aims to compare the efficacy of posterior pelvic ring fracture fixation with iliosacral screw insertion between the assistance of modified percutaneous patient specific 3D printed guide template and conventional fluoroscopy. Methods:From May,2019 and September 2021,28 patients sustained posterior pelvic ring fractures were randomized into 2 groups:A guide template group,in which the iliosacral screw was inserted for fixation of the posterior pelvic ring fracture with the assistance of modified percutaneous patient specific 3D printed guide template,and a fluoroscopy group,in which the iliosacral screw was inserted under the guidance of conventional fluoroscopy.The operation time,fluoroscopic frequency,intraoperative blood loss,and incision length were recorded for each screw insertion.Fracture reduction was evaluated according to the Matta criteria.The screw position was evaluated according to the modified Gras classification,and the functional outcome was evaluated according to Majeed score.The parameters of both groups were compared,and statistical analysis was performed. Results:All the 28 patients were followed up for 12-24 months.Of them,15 iliosacral screws were inserted in 14 patients in the guide template group,and 14 iliosacral screws were inserted in 14 patients in the fluoroscopy group.The operation time,fluoroscopic frequency,screw deviation,incision length,and blood loss in the guide template group were 20-30(25.8±2.8)min,9-15(12.2±1.9),2-4(2.6±0.7)mm,4-5(4.6±0.5)cm,and 5-10(7.8±1.7)mL,respectively,whereas those in the fluoroscopy group were 30-60(48.1±7.5)min,40-96(64.7±16.3),3-6(4.2±0.9)mm,0.8-1.2(1.0±0.1)cm,and 2-5(3.1±1.3)mL,respectively,and there were statistical significance(all P<0.001).Fracture reduction was evaluated according to the Matta criteria,and all the patients reached excellence and good(P=0.584)in the 2 groups.According to modified Gras classification,there were 12 Grade Ⅰ screws,3 Grade Ⅱ screws,and 0 Grade Ⅲ screws in the guide template group,and 10 Grade Ⅰ screws,3 Grade Ⅱ screws,and 1 Grade Ⅲ screw in the fluoroscopy group,with no statistical significance(P=0.334).The functional outcome was evaluated according to Majeed score at the last follow-up,without significant difference between the guide template group and the fluoroscopy group(P=0.908). Conclusion:Compared with the conventional fluoroscopy,it would cost less operation time,less fluoroscopic frequency and increase more accurate screw insertion to fixate the posterior pelvic ring fracture with the assistance of modified percutaneous patient specific 3D printed guide template.

Correlation of tumor budding with KRAS,NRAS,BRAF gene mutation and MSI status in colorectal adenocarcinoma and their clinical significance / 临床与实验病理学杂志

Purpose To explore the clinicopathological re-lationship between tumor budding and KRAS,NRAS,BRAF gene mutations and MSI status in colorectal adenocarcinoma and their clinical significance.Methods The clinical data of 237 cases of colorectal adenocarcinoma were collected to interpret tumor budding.RT-PCR was used to detect the gene mutations of KRAS,NRAS,BRAF in 229 cases and to analyze the corre-lation between tumor budding and gene mutations.MSI was de-tected by PCR and its relationship with tumor budding was ana-lyzed.Results Of the 237 patients,147 showed low-to medi-um-grade tumor budding and 90 showed high-grade tumor bud-ding.Tumor budding was associated with tumor size,vascular involvement,perineural invasion,tumor differentiation,lymph node metastasis,tumor nodule formation,tumor recurrence and TNM staging(P＜0.05),while it was not associated with age,sex and location.Single factor logistic regression analysis showed that tumor budding was associated with the risk of lymph node metastasis(P＜0.05),while multivariate logistic regres-sion analysis showed that tumor budding was an independent pre-dictor of lymph node metastasis in colorectal adenocarcinoma(P＜0.05).Of the 229 cases,the mutation rate of KRAS,NRAS and BRAF was 42.4％,2.6％and 3.1％,respectively.A-mong KRAS,NRAS and BRAF mutation cases,the proportion of high-grade tumor budding was 56.7％,33.3％and 14.3％,respectively.Tumor budding was associated with mutations in the Kras 12 and Kras 13 codons,as well as KRAS total muta-tions(P＜0.05).However,tumor budding had no relationship with NRAS and BRAF.In the high-grade budding tumors,KRAS mutations were mainly KRAS codons 12 and 13.Among the cases with KRAS mutation,the disease-free survival time and total survival time of the cases with high-grade tumor bud-ding were significantly shorter(P＜0.05).Of the 237 patients,the rate of MSI-H was 6.8％and only 2 out of 16 MSI-H pa-tients had high-grade tumor budding.There was a negative cor-relation between tumor budding and MSI status(r=-0.143,P＜0.05).Conclusion Tumor budding is related to the muta-tions in the Kras 12 and Kras 13 codons,as well as total KRAS mutations and MSI status.Tumor budding is also related to the prognosis of patients with colorectal adenocarcinoma,which can provide a reference for their outcome judgment.

Preoperative MRI radiomics models for predicting risk stratification of endometrial cancer / 中国医学影像技术

Objective To observe the value of preoperative MRI radiomics models for predicting risk stratification of endometrial cancer(EC).Methods Data of 219 EC patients who underwent pelvic MR examination before surgery were retrospectively analyzed.The patients were divided into high risk group(n=104)or low risk group(n=115)according to postoperative pathological findings,also assigned into training set(n=153)or test set(n=66)according to examination time and further divided into high or low risk subgroups in each set.ROI was manually sketched on MRI using 3D Slicer,and each 1 130 features were extracted from axial and sagittal fat suppression(FS)T2WI as well as axial and sagittal enhanced FS-T1WI,respectively.Then the least absolute shrinkage and selection operator(LASSO)was used to select a total of 54 merged MRI features,including 12,14,16 and 12 features,respectively.Finally,25 merged LASSO features were reduced dimensionality and selected by reusing LASSO.Extremely randomized trees algorithm was used to construct radiomics models based on each single sequence features,merged MRI features and merged LASSO features,respectively.Receiver operating characteristic curves were drawn,the area under the curve(AUC),the accuracy and F1 score were obtained to evaluate the predicting efficacy of each model.AUC was used to evaluate the predictive efficacy of the models and subjective diagnosis of test set.Results In training set,the accuracy(0.784,0.777),F1 score(0.730,0.731)and AUC(0.835,0.855)of modelmerged MRI and modelmerged LASSO were both higher than those of each single sequence model,while in test set,the sensitivity(0.794,0.882),specificity(0.909,0.969)and AUC(0.904,0.934)of modelmerged MRI and modelmerged LASSO were both higher than those of subjective diagnosis and each single sequence model.The predictive effiency of modelmerged LAsSo was better than that of modelmerged MRI,which was the best model.Conclusion Preoperative MRI radiomics model was effective for predicting risk stratification of endometrial cancer.Modelmerged LASSO had the best performance.

The association of serum level of interleukin⁃18 with structural progression in knee osteoarthritis / 安徽医科大学学报

Objective @#To investigate the cross⁃sectional associations of serum interleukin( IL) Ⅳ18 with cartilage volume , cartilage defects , bone marrow lesions ( BML) and biomarkers of cartilage degradation in patients with knee osteoarthritis (OA) , and to provide new ideas and new methods for clinical diagnosis and treatment. @*Methods@#The study included 151 patients with knee OA , a general questionnaire survey was conducted , and the knee strucral was photographed by magnetic resonance imaging (MRI) . The cartilage volume was measured by OsiriX software in 3D⁃FLASH sequence , and cartilage defect and BML were determined in T2⁃weighted sequence. Serum IL-18 and matrix metalloproteinase ( MMP) Ⅳ3 , 13 levels were measured by enzyme⁃linked immunosorbent assay(ELISA) . SPSS software was used for statistical analysis. @*Results @#In multivariable analyses , serum IL⁃18 level was consistent at divided part of joint (femorotibial joint and the patella femoral joint , all P < 0. 05) . Serum IL⁃18 level was positively associated with cartilage defect and BML at media femorotibial area (all P < 0. 01) . Serum IL⁃18 level was positively associated with MMP⁃3 (β = 0. 31 , 95% CI:0. 001 - 0. 010) and MMP⁃13 (β = 0. 86 , 95% CI:0. 08 - 0. 10 , all P < 0. 01) . @*CI:0. 08 - 0. 10 , all P < 0. 01) . Conclusion Serum IL⁃18 level is negatively associated with cartilage volume and@#Serum IL⁃18 level is negatively associated with cartilage volume and positively associated with cartilage defect , BML , MMP⁃3 and MMP⁃13 , suggesting IL⁃18 may play a significant role duce the injury of article cartilage in patients with knee OA and delay the progression of disease.

Inhibition of ADAMTS by iPSC⁃MSCs in vitro protects cartilage matrix in patients with osteoarthritis / 安徽医科大学学报

Objective @# To study the protective effect and mechanism of iPSC⁃MSCs on cartilage matrix in knee oste⁃ oarthritis (KOA) patients in vitro. @*Methods @#Cartilage tissues removed from KOA patients with joint replacement surgery were collected and subjected to tissue and cellular experiments , respectively. Cartilage tissue was cut into small pieces and randomly divided into a control group , an IL⁃1β ( 10 ng/ml) induction group , and iPSC⁃MSCs 96 h and then co⁃cultured with different amounts of iPSC⁃MSCs ( 1 × 104 , 1 × 105 , 1 × 106 ) cells for 72 h. For in tissues , the pathological changes of isolated cartilage tissues were examined by HE staining. The levels of ADAMTS⁃4 , ADAMTS⁃5 , and type II collagen expression were analyzed by immunohistochemistry , while the levels of MMP13 , IL⁃6 , and IL⁃10 in culture supernatants were detected by ELISA kits. The 2 to 5 generations of chondrocytes , which were extracted from cartilage tissue of KOA patients , were stimulated with IL⁃1β ( 10 ng/ml) for 48 h and then co⁃cultured with different concentrations of iPSC⁃MSCs ( 1 × 104 , 1 × 105 , 1 × 106 ) cells for 72 h. Immunofluorescence and Western blot detected the expression of RUNX2 , ADAMTS⁃4 , and ADAMTS⁃5 in chondrocytes. @*Results @#Comparison with the control group , in the IL⁃1β⁃induced group , the levels of RUNX2 , ADAMTS⁃4 , and ADAMTS⁃5 increased , the level of type II collagen decreased , the levels of MMP⁃13 and IL⁃6 in the culture supernatant increased ( P < 0. 05) , and the level of IL⁃10 decreased ( P < 0. 05) ; Compared with the IL⁃1β⁃induced decreased the expression of RUNX2 , ADAMTS⁃4 , and ADAMTS⁃5 , promoted type II collagen expression and elevated IL⁃10 levels. @*Conclusion @#iPSC⁃MSCs inhibited ADAMTS⁃4 and ADAMTS⁃5 expression in vitro , reduced cartilage extracellular matrix degradation , and played a role in articular cartilage protection.

Membrane anatomy in right colon cancer: definition and identification of mesocolic completeness / 中华胃肠外科杂志

Complete mesocolic excision (CME) and D3 resection of right colon cancer have been widely implemented, but the definition and identification of the completeness of the mesentery have not been fully agreed, especially the dorsal and medial borders. In this paper, we proposed the dorsal fascia of the colonic mesentery as the dorsal border of the mesocolon and the line connecting the roots of the ileocolic artery and the middle colic artery (ICA-MCA line) as the medial border of the CME by systematically studying the relationship between the mesentery and the mesenteric bed from the theory of membrane anatomy, combined with surgical experience and in-depth review of ontogenetic anatomy. We also proposed the visible "superior mesenteric vein notch" and "middle colic artery triangle" on surgical specimens as identifiers of mesocolic completeness.

Therapeutic effect of small extracellular vesicles derived from mesenchymal stem cells on retinal light injury and its mechanism / 中华实验眼科杂志

Objective:To investigate the effect of small extracellular vesicles (sEVs) derived from mesenchymal stem cells (MSCs) in mouse model of retinal light injury and the possible mechanism.Methods:Human umbilical cord derived MSCs were identified by flow cytometry.Supernatants of passage 3-5 MSCs were collected.sEVs were harvested by ultracentrifugation and were identified by transmission electron microscopy.Sixty-five healthy female SPF-grade BALB/c mice aged 8-10 weeks were randomly divided into normal group (17 mice), phosphate buffered saline (PBS) group (24 mice) and sEVs group (24 mice). Mice in PBS and sEVs groups were intravitreally injected with 2 μl of PBS and sEVs, respectively, and were exposed to 930 lx blue light for 6 hours.No intervention was administered to the normal group.Three days after lighting, mice retinal structure was observed by hematoxylin-eosin staining.Apoptotic retinal cells were detected by terminal deoxynucleotidyl transferase-mediated dUTP nick-end labeling (TUNEL). Retinal function was tested by electroretinogram.Differentially expressed mRNAs between PBS group and sEVs group were assayed by mRNA transcriptome sequencing and were analyzed through KEGG cluster analysis.The differential mRNAs were verified via real-time quantitative PCR.The study protocol was approved by the Animal Ethics Committee of Tianjin Medical University Eye Hospital (No.TJYY20201221035).Results:MSCs were positive for CD90 and CD105, negative for CD34 and CD45.The extracted MSC-sEVs showed a bilayer membrane vesicle with a diameter of 80-140 nm.Hematoxylin-eosin staining showed the arrangement of photoreceptor nuclei was disordered in outer nuclear layer in PBS group.The disorder of photoreceptor nuclei arrangement of sEVs group was slighter than that of PBS group.The apoptotic cell number of sEVs group was (14.60±4.04)/visual field, which was lower than (24.00±8.52)/visual field of PBS group, with a statistically significant difference ( t=2.37, P<0.05). The a-wave amplitude of sEVs group was (64.38±16.70)μV, which was higher than (16.78±6.37) μV of PBS group, showing a statistically significant difference ( P<0.05). The b-wave amplitudes of PBS and sEVs groups were (132.40±39.41) μV and (154.86±34.08) μV, respectively, which were lower than (338.38±27.41) μV of normal group, and the differences were statistically significant (both at P<0.05). A total of 110 differentially expressed mRNAs were detected.There were 109 downregulated mRNAs in sEVs group.Differentially expressed mRNAs were mainly inflammation- and immune-related pathways.PCR showed that the expression level of C-C motif chemokine ligand 2, C-C motif chemokine receptor 2, leukotriene B4, leukocyte Ig-like receptor A6 and interleukin-1β in sEVs group were significantly decreased in comparison with PBS group (all at P<0.05). Conclusions:MSC-sEVs can ameliorate blue light-induced retinal structural and functional damage.The protective effect may be achieved through inhibiting inflammatory response.

Survey on knowledge of asthma diagnosis and management among general practitioners in community health centers in Shanghai and analysis on relative factors / 中华全科医师杂志

Objective:To survey the knowledge levels about diagnosis and management of asthma among general practitioners in community health centers in Shanghai and to analyze influencing factors.Methods:A questionnaire survey was conducted from May to June 2022 among general practitioners from 80 community health care centers in Shanghai. The questionnaire contained the basic information of the responders; knowledge about the diagnosis of asthma (symptoms, diagnostic methods, interpretation of bronchodilation and fractional exhaled nitric oxide, FeNO tests); and treatment of asthma (choosing and usage of therapeutic drugs). Logistic regression was used to analyze.Results:A total 324 general practitioners completed the questionnaire survey. Among them 221 (68.21%) had bachelor degree; 200 (61.73%) were attending doctors; the median working duration was 11 years; 174 (53.70%) had training on asthma knowledge in last 3 years. The survey results showed that 55 (16.98%) responders misinterpreted results of bronchodilation test, and 90(5.86%)misinterpreted results of FeNO test for diagnosis of asthma; 244 responders (75.31%) suspected implication of long-term cough for diagnosis of asthma; 277(85.49%)would order bronchodilation text to suspected patients; 273(84.26%)prescribed inhaled corticosteroid plus long-acting beta-2 agonist to asthma patients. For mild asthma patients, 144 responders(44.44%)suggested to use budesonide formoterol as needed; for moderate to severe asthma, 174(53.70%)suggested to use budesonide formoterol regularly and as needed, 100(30.86%)suggested to use salmeterol fluticasone regularly and salbutamol as needed. Logistic analysis showed that longer working duration was correlated with higher misinterpretation rate of bronchodilation and FeNO tests( OR=0.798,95% CI:0.694-0.918, P=0.002; OR=0.859,95% CI:0.739-0.998, P=0.047). The accuracy rate of all the questions was significantly higher in general practitioners who had training on asthma knowledge than those who didn′t receive training in last 3 years(all P<0.05). Conclusions:Most general practitioners in community health service centers in Shanghai have relatively high levels of knowledge about diagnosis and treatment of asthma. Years of work experience and training experience can affect the levels of asthma knowledge among community general practitioners.

Spontaneous intracranial hypotension caused by high-flow spinal cerebrospinal fluid leaks: analysis of 6 patients / 中华神经科杂志

Objective:To analyze the clinical features of 6 patients with spontaneous intracranial hypotension caused by high-flow spinal cerebrospinal fluid leaks.Methods:The clinical characteristics, auxiliary examinations, treatment, and outcomes in 6 patients of spontaneous intracranial hypotension caused by high-flow spinal cerebrospinal fluid leaks enrolled in the Xuanwu Hospital, Capital Medical University from February 2021 to April 2022 were retrospectively reviewed.Results:All the 6 patients had orthostatic headaches. Brain magnetic resonance imaging showed dural enhancement and brain sagging and magnetic resonance myelography showed longitudinal extradural collection in all the patients. The high-flow spinal cerebrospinal fluid leaks were demonstrated in upper thoracic segments by the dynamic myelography. The headache disappeared after conservative treatment in 2 patients and treatment with targeted epidural blood patch in 4 patients.Conclusions:The diagnosis of spontaneous intracranial hypotension caused by high-flow spinal cerebrospinal fluid leaks with typical orthostatic headache and brain magnetic resonance imaging and myelography findings is not difficult. However, the localization of the site of high-flow spinal cerebrospinal fluid leaks in spontaneous intracranial hypotension depends on the dynamic myelography. Targeted epidural blood patch is effective, but conservative treatment does not always work.

Severe COVID-19 complicated with mild encephalitis/encephalopathy with reversible splenial lesion of the corpus callosum: a case report / 中华神经科杂志

Since the global COVID-19 pandemic, SARS-CoV-2 infection, which causes COVID-19, has been associated with a range of diseases whose atypical manifestations have been increasingly reported. The mild encephalitis or encephalopathy associated with reversible corpus callosum lesions or mild encephalitis/encephalopathy with reversible splenial lesion (MERS) is a rare clinical and radiographic syndrome. At present, the pathogenesis of MERS caused by COVID-19 is still unclear, and its pathogenesis may include hypoxic damage, inflammatory response, immune disorders, changes in osmotic pressure, excitatory amino acid toxicity, oxidative stress and functional abnormalities of renin-angiotensin system. This paper reports a case of severe COVID-19 complicated with MERS, and discusses the pathogenesis from a pathophysiological point of view.

Current status of animal models of cataract classified by etiology / 国际眼科杂志(Guoji Yanke Zazhi)

Cataract is one of the major causes of vision loss and even blindness in patients, and surgery is the only effective method to treat it. The pathogenesis and precaution of cataract remain hot issues in ophthalmological research. With the maturation of biotechnology in recent years, modeling methods and species of experimental animals have become more diverse, which are still the mainstay of cataract mechanism research. However, the ideal animal model of cataract has yet to be constructed due to the complexity of human cataract etiology. Herein, the modeling principles, in vivo or in vitro modeling methods, characteristics, and existing problems of animal models of cataract are summarized according to etiology, providing the theoretical foundation for the construction of a comprehensive animal model that more closely resembles the human cataract.

Mechanism and experimental verification of jiawei duhuo jisheng mixture in treatment of knee osteoarthritis based on network pharmacology / 中国药理学通报

Aim To explore and verify the possible mechanism of Jiawei Duhuo Jisheng Mixture(JDJM)in the treatment on Knee Osteoarthritis(KOA)via using network pharmacology and animal experiment. Methods The ingredients of JDJM and relevant targets were collected from TCMSP and BATMAN-TCM database. The KOA-related targets were collected from GeneCard, OMIM and GEO databases. The common targets were acquired by intersecting ingredients-related and KOA-related targets, and then the Ingredient-Disease-Target Network and PPI network were constructed by Cytoscape 3.7.2 software and STRING platform. GO and KEGG enrichment analysis were performed based on Metascape database. Finally, the key targets and relevant mechanism were validated via animal experiment. Results In the network pharmacology study, 180 active ingredients related to treatment on KOA by JDJM were collected, and 152 common targets were confirmed. PPI network analysis showed that AKT1 might be the key targets of JDJM in the treatment on KOA. GO and KEGG enrichment analysis revealed that the key target mainly concentrated on inflammatory response and apoptosis. Animal experiment confirmed that JDJM could improve lesion in KOA rabbits, and suppress the expression levels of IL-1β, TNF-α, Caspase 3 and BAX in serum and articular fluid. AKT1 expression(including mRNA and protein)in articular cartilage was also down-regulated. Conclusions Based on the results of network pharmacology and animal experiment, JDJM may relieve KOA severity by anti-inflammatory and anti-apoptotic effects through a variety of molecular signaling pathways.

Quality evaluation of Compound Cheqian Tablets based on UPLC-Q-TOF-MS/MS, network pharmacology and "double external standards" QAMS / 中国中药杂志

The Compound Cheqian Tablets are derived from Cheqian Power in Comprehensive Recording of Divine Assistance, and they are made by modern technology with the combination of Plantago asiatica and Coptis chinensis. To investigate the material basis of Compound Cheqian Tablets in the treatment of diabetic nephropathy, in this study, the chemical components of Compound Cheqian Tablets were characterized and analyzed by UPLC-Q-TOF-MS/MS, and a total of 48 chemical components were identified. The identified chemical compounds were analyzed by network pharmacology. By validating with previous literature, six bioactive compounds including acteoside, isoacteoside, coptisine, magnoflorine, palmatine, and berberine were confirmed as the index components for qua-lity evaluation. Furthermore, the content of the six components in the Compound Cheqian Tablets was determined by the "double external standards" quantitative analysis of multi-components by single marker(QAMS), and the relative correction factor of isoacteoside was calculated as 1.118 by using acteoside as the control; the relative correction factors of magnoflorine, palmatine, and berberine were calculated as 0.729, 1.065, and 1.126, respectively, by using coptisine as the control, indicating that the established method had excellent stability under different conditions. The results obtained by the "double external standards" QAMS approximated those obtained by the external standard method. This study qualitatively characterized the chemical components in the Compound Cheqian Tablets by applying UPLC-Q-TOF-MS/MS and screened the pharmacodynamic substance basis for the treatment of diabetic nephropathy via network pharmacology, and primary pharmacodynamic substance groups were quantitatively analyzed by the "double external stan-dards" QAMS method, which provided a scientific basis for clarifying the pharmacodynamic substance basis and quality control of Compound Cheqian Tablets.

Research progress of ceramide in cardiovascular diseases / 中国医师杂志

Ceramide is a kind of sphingolipid with complex function, which is involved in cell growth, differentiation, stress response, inflammatory signal transduction and apoptosis as a second messenger. In recent years, many studies have shown that it is closely related to the occurrence and risk prediction of cardiovascular diseases such as coronary heart disease, heart failure, atrial fibrillation, hypertension and so on. In this paper, the related research progress is summarized.

Phenotype and genetic studies of the cases with ATXN2 intermediate-length CAG-repeat expansion in spinocerebellar ataxia type 2 pedigree / 中华神经科杂志

Objective:To explore the phenotype and molecular genetic features of spinocerebellar ataxia type 2 (SCA2) cases with ATXN2 intermediate-length CAG-repeat expansion.Methods:Fragment analysis by capillary electrophoresis was performed to detect the dynamic mutations in the samples of the probands in 1 383 pedigrees with autosomal dominant inherited ataxia in Research Center for Motor Disorders and Neurogenetic Diseases, Department of Neurology, China-Japan Friendship Hospital from 2005 to 2018. The clinical and genetic features of individuals carrying the ATXN2 intermediate-length CAG-repeat expansion were carefully analyzed.Results:Two hundred and three individuals (including the probands and members of their families) in 163 families carried the expanded CAG repeats in ATXN2 gene, among which 107 individuals in 93 families carried the intermediate-length CAG-repeats. Within 20 parent-child pairs, the CAG repeats increased 0-28 copies in 16 pairs with paternal inheritance, and 0-4 copies in 4 pairs with maternal inheritance.Conclusions:For suspected SCA2 cases, ATXN2 gene testing should be performed on the parental members and adult offspring members in the family. Dynamic mutations testing is essential to identify the individuals with ATXN2 intermediate-length repeat expansion, which is very important for genetic counseling.

Research progress of asprosin in metabolic diseases and cardiovascular diseases / 中国医师杂志

Asprosin is a newly discovered fasting-induced glucogenic adipokine, which is involved in regulating appetite, glucose and fat metabolism and oxidative stress. Recently, it has been found that asprosin is related to metabolic diseases such as type 2 diabetes, obesity, nonalcoholic fatty liver, polycystic ovary syndrome, and cardiovascular diseases such as coronary heart disease and dilated cardiomyopathy, and plays an active role in heart protection. In this paper, the related research progress is summarized.

METTL27 is a prognostic biomarker of colon cancer and associated with immune invasion / 南方医科大学学报

OBJECTIVE@#To investigate the expression and gene function of methyltransferase-like protein 27 (METTL27) in colon cancer, its association with immune infiltration and its prognostic significance.@*METHODS@#We analyzed the expression levels of METTL27 in 33 cancers using R language and identified METTL27 as a differential gene in colon cancer. The related signaling pathways of METTL27 were analyzed by gene functional annotation and enrichment. SsGSEA algorithm was used to analyze immune infiltration, and logistic analysis was used to evaluate the correlation between METTL27 expression and clinicopathological features of the patients. Kaplan-meier analysis, univariate and multivariate Cox regression analysis were performed to construct a nomogram for evaluating the correlation between METTL27 expression and clinical prognosis. The expression level of METTL27 was further verified in colorectal cancer cell lines and 16 clinical specimens of colorectal cancer tissues using qPCR and Western blotting.@*RESULTS@#METTL27 was highly expressed in 21 cancers, and its expression was significantly higher in colon cancer than in adjacent tissues (P < 0.001). METTL27-related genes were identified by differential analysis, and functional annotation revealed that METTL27 was significantly enriched in transmembrane transport and lipid metabolism, and 5 related signaling pathways were identified by GSEA. METTL27 expression was negatively correlated with different T helper cells and central memory T cells (P < 0.001). The patients with a high METTL27 mRNA expression had a poor survival outcome. Cox regression analysis showed that METTL27 expression was an independent prognostic factor of the overall survival. The expression level of METTL27 was significantly higher in the colorectal cancer cell line than in normal cells (P < 0.05).@*CONCLUSION@#METTL27 is overexpressed in colon cancer and is associated with a poor prognosis of the patients. A high expression of METTL27 showed is associated less T cell immune infiltration, suggesting the potential of METTL27 as a prognostic marker of colon cancer.

Identification of laccase gene family members in peach and its relationship with chilling induced browning / 生物工程学报

The laccase (PpLAC) gene family members in peach fruit were identified and the relationship between their expression pattern and chilling induced browning were investigated. The study was performed using two varieties of peaches with different chilling tolerance, treated with or without exogenous γ-aminobutyric acid (GABA) during cold storage. Twenty-six genes were screened from the peach fruit genome. These genes were distributed on 6 chromosomes and each contained 5-7 exons. The PpLAC gene family members shared relatively similar gene structure and conserved motifs, and they were classified into 7 subgroups based on the cluster analysis. Transcriptome sequencing revealed that the expression levels of PpLAC7 and PpLAC9 exhibited an increasing pattern under low temperature storage, and displayed a similar trend with the browning index of peach fruit. Notably, GABA treatment reduced the degree of browning and inhibited the expression of PpLAC7 and PpLAC9. These results suggested that PpLAC7 and PpLAC9 might be involved in the browning of peach fruit during cold storage.

Phenotypic heterogeneity and gene penetrance of a dopa-responsive dystonia family / 中华神经医学杂志

Objective:To investigate the phenotypic heterogeneity and gene penetrance of a dopa-responsive dystonia (DRD) family.Methods:The clinical data of a four-generation DRD family (including 3 patients) admitted to Department of Neurology, China-Japan Friendship Hospital in November 2015 were retrospectively analyzed. The proband underwent whole exon sequence, and the genetic result was verified by Sanger sequencing. Sanger sequencing was performed in the other 14 subjects in the family; the genotypes and clinical manifestations were analyzed.Results:In 15 subjects underwent genetic testing, 7 had heterozygous mutations c.284G>A (p.P95L) in GCH1 gene; the penetrance of GCH1 gene mutation in this family was 0.43 (3/7), the gene penetrance in male was 0.25 (1/4), and the gene penetrance in female was 0.67 (2/3). Three subjects in the DRD family had clinical symptoms; the clinical symptoms of the two female patients were more severe than those of the male patient; the severity of clinical symptoms differed greatly between the 2 female patients. Conclusion:There is a wide intrafamilial phenotypic heterogeneity in DRD family members carrying the same gene mutation, and the phenotype is gender-related; the gene penetrance in male is lower than that in female, and the clinical phenotype is often milder.