Objective:To develop an efficient and robust method based on three dimensional facial landmarks for evaluating chin region asymmetry at the soft tissue level and to compare it with the tradi-tional mirror-overlap analysis method in order to test its availability.Methods:Standard symmetrical face was used for mental tubercle coordinate transformation so as to filter soft tissue three dimensional spatial angle and construct corresponding three dimensional spatial angle wireframe template.Ten patients aged 12-32 years with clinical chin region asymmetry diagnosis at the Department of Orthodontics of Peking University Hospital of Stomatology from November 2020 to November 2021 were randomly selected.Three dimensional soft tissue face scan data of the patients were collected by three dimensional face scanner and the landmark points were automatically determined by the Meshmonk non-rigid registration algorithm pro-gram,and in this way,the asymmetric three dimensional spatial angle wireframe template and corre-sponding spatial angle parameters were generated.Mirror-overlap analysis of face scan data was also per-formed in Geomagic Studio 2015 software and deviation color maps were generated.This study took mirror-overlap analysis as the gold standard method,the response rate of chin region asymmetry was eva-luated by the outcomes of the mirror-overlap analysis and three dimensional spatial angle wireframe tem-plate analysis.Results:Nine three dimensional spatial angle indicators were selected through coordinate transformation,and the response rate was calculated using mirror-overlap analysis as the gold standard method.Among these ten selected patients,the response rate of the total chin region asymmetry was 90％(9/10).Using the deviation value of mirror-overlap analysis as a reference,the response rate of chin region asymmetry in the X dimension was 86％,the response rate of chin region asymmetry in the Y dimension was 89％,and the response rate of chin region asymmetry in the Z dimension was 100％.Conclusion:The three dimensional soft tissue spatial angle wireframe template proposed in this study has some feasibility in evaluating chin region asymmetry at the soft tissue level,and its ability to recognize asymmetry separately in the three dimensional direction is better than the mirror-overlap analysis method,and the indicators recognition rate still needs to be further improved.

Objective:To investigate the correlation between brain iron deposition and cognitive function in patients with carotid atherosclerosis stenosis (CAS) based on quantitative susceptibility mapping (QSM).Methods:This single-center prospective study was performed at the Department of Vascular Surgery, Nanjing Drum Tower Hospital from January 2022 to June 2022. Patients who met the ataxation criteria were divided into the CAS group ( n=16) and the CAS with mild cognitive impairment (CAS-MCI) group ( n=17) according to the Montreal Cognitive Assessment (MoCA) scores. All patients completed QSM imaging and whole-brain analyses were performed for absolute susceptibility values in cortical regions. Age, sex, education years, hypertension, and diabetes mellitus were included as covariates in all analyses. Partial correlation analyses were used to determine the correlation between bilateral CAS degrees and cortical susceptibility values. Further, mediation analyses were performed to determine whether and how cortical susceptibility values affect cognition in CAS patients. Receiver operating characteristic (ROC) curve analysis was also performed to evaluate the predictive worth of differential brain region susceptibility values for cognitive decline. Independent sample t test and Mann-Whitney U test was used to compare quantitative variables. The comparison of categorical variables was conducted using χ2 test, Fisher′s exact test or Wilcoxon rank sum test. Results:A total of 33 patients were included in the study, including 16 in the CAS group and 17 in the CAS-MCI group. There were 23 males and 10 females, aged (62.8±9.0) years (range: 48 to 88 years). CAS-MCI group showed higher right CAS grades ( Z=-2.037, P=0.042). Whole-brain cortical QSM analyses showed higher susceptibility values in the frontal pole ((-0.210±0.080)×10 -8vs.(-0.130±0.120)×10 -8; t=-2.187, P=0.037), superior frontal gyrus ((-0.604±0.243)×10 -8vs. (-0.428±0.203)×10 -8; t=-2.223, P=0.034), and temporal pole ((-0.081±0.115)×10 -8vs. (0.054±0.190)×10 -8; t=-2.417, P=0.022) in CAS-MCI group compared to CAS group. The susceptibility value of the frontal pole showed a positive correlation with the right CAS grade ( r=0.424, P=0.009),while a quasi-significant positive correlation with the left CAS ( r=0.313, P=0.070). The susceptibility values of the frontal and temporal poles were negatively correlated with the MoCA score (frontal pole: r=-0.391, P=0.027; temporal pole: r=-0.410, P=0.020). Mediation analysis showed the effect of right CAS on cognition was fully mediated by the susceptibility value of the frontal pole. The ROC curve revealed that the area under the curve of using hypertension combined with the susceptibility value of the frontal pole to predict cognitive decline was 0.882 (95% CI:0.763 to 0.989) with 82% of sensitivity and 83% of specificity. Conclusions:Multiple cortical regions show iron deposition in CAS-MCI patients. Right CAS plays an important role in cognitive decline, frontal pole iron deposition mediates the effect of right CAS on cognitive function. Quantified frontal pole susceptibility is useful for the diagnosis of cognitive decline in patients with CAS.

Objective To explore the relationship between serum ferritin levels and body fat distribution in patients with type 2 diabetes mellitus(T2DM).Methods A retrospective analysis was conducted on 151 patients with T2DM who were hospitalized in the Department of Endocrinology of the First Hospital of Lanzhou University from June to November 2020,and all the patients were divided into high serum ferritin(n=50)and normal serum ferritin(n=101)groups according to their serum ferritin levels.The visceral fat area(VFA),subcutaneous fat area(SFA),liver fat,height,weight and waist circumference(WC)were measured,as well as blood glucose,lipid indexes,body mass index(BMI)and visceral adiposity index(VAI)were also calculated.t-test or nonparametric test was used to compare the differences between the two groups,and the relationship between serum ferritin levels and body fat distribution was analyzed by Pearson or Spearman correlation analysis,multiple linear regression and logistic regression.Results The VAI and WC were significantly higher in high serum ferritin group[3.13(2.16,4.58)and(96.66±7.78)cm]than in normal serum ferritin group[2.66(1.66,3.81)and(91.96±9.75)cm,P<0.05].The prevalence of central obesity and dyslipidemia was higher in high serum ferritin group(88.0%and 90.0%)than in normal serum ferritin group(68.3%and 75.2%);and the composition ratios of poor glycemic control and insulin resistance(96.0%and 62.0%)were also higher than in normal serum ferritin group(78.2%and 40.6%)(P<0.05),there were no statistically significant differences in BMI,VFA,and SFA levels,as well as antidiabetic drug use and chronic complications of diabetes mellitus between the two groups(P>0.05).Serum ferritin levels in T2DM patients were positively correlated with VAI,WC,triglyceride(TG),fasting blood glucose(FPG),HbA1c,dyslipidemia and serum creatinine(r=0.171,0.207,0.187,0.243,0.270,0.162,0.162;P<0.05),and negatively correlated with age,sex and diabetes course(r=-0.191,-0.434,-0.352;P<0.05).Multivariate linear regression analysis showed that in male T2DM patients,duration of diabetes and FPG were risk factors for increased levels of serum ferritin.However,WC and VAI did not significantly affect serum ferritin levels.In female patients with T2DM,the course of diabetes,TG and VAI were the factors influencing serum ferritin(P<0.05).Conclusion Dyslipidemia and visceral fat accumulation are risk factors for elevated serum ferritin levels in female T 2DM patients.

Objective To elucidate the molecular genetic etiology of patients with disorders of sex development(DSD)using whole exome sequencing(WES),thereby enhancing our understanding of the underlying mechanisms of sexual development abnormalities.Methods Retrospective analysis was conducted on clinical data of 60 DSD patients diagnosed in the First People's Hospital of Yunnan Province between March 2008 and August 2021,with an additional family study for one proband.Genomic DNA was extracted from patients for WES analysis.Single nucleotide polymorphism(SNP)and insertions/deletion(InDel)tests were identified using SAMtools software in conjunction with established SNP and InDel databases.Copy number variations(CNVs)at the exon level were detected using ExomeDepth,while the potential pathogenicity of mutations was predicted with PolyPhen-2,Mutation taster and PyMol software,with Sanger sequencing employed for confirmation.Results The study included 22 patients with 46,XX DSD and 38 with 46,XY DSD.Among the 46,XX DSD patients,the SRY gene was detected in 14 patients.In the remaining 8 patients and a proband's families,single nucleotide site variations(SNVs)of NR5A1,PROKR2 and ANOS1 genes were identified in 2 patients,and CNVs in CYP21A2 gene were found in 4 patients.The pathogenicity of CYP21A2 EX1 Dup has been previously reported,while the remaining 3 CNVs were of uncertain significance,and no DSD-related mutations were detected in 2 patients.In the WES analysis of 46,XY DSD patients,10 pathogenic or likely pathogenic SNVs across 5 genes(SRY,AR,SRD5A2,CYP17A1,and NR5A1)were identified in 14 patients.Additionally,5 likely pathogenic CNVs involving the CYP21A2,AKR1C2,CBX2,and NR5A1 genes were detected in 5 patients,comprising 3 deletions and 2 duplications.Novel SNVs in NR5A1(c.722G>T,c.48C>G)and ANOS1 c.564A>T were identified,with no prior reports in relevant databases.The pathogenicity of CYP21A2 EX1 Dup is documented in related databases,while the remaining CNVs have not been previously reported.Conclusion The utilization of WES technology has enhanced the diagnostic potential for DSD,broadened the spectrum of known DSD-related gene mutations,and deepened our comprehension of DSD pathogenesis,offering valuable support for genetic counseling.

Objective:To investigate the correlation between brain iron deposition and cognitive function in patients with carotid atherosclerosis stenosis (CAS) based on quantitative susceptibility mapping (QSM).Methods:This single-center prospective study was performed at the Department of Vascular Surgery, Nanjing Drum Tower Hospital from January 2022 to June 2022. Patients who met the ataxation criteria were divided into the CAS group ( n=16) and the CAS with mild cognitive impairment (CAS-MCI) group ( n=17) according to the Montreal Cognitive Assessment (MoCA) scores. All patients completed QSM imaging and whole-brain analyses were performed for absolute susceptibility values in cortical regions. Age, sex, education years, hypertension, and diabetes mellitus were included as covariates in all analyses. Partial correlation analyses were used to determine the correlation between bilateral CAS degrees and cortical susceptibility values. Further, mediation analyses were performed to determine whether and how cortical susceptibility values affect cognition in CAS patients. Receiver operating characteristic (ROC) curve analysis was also performed to evaluate the predictive worth of differential brain region susceptibility values for cognitive decline. Independent sample t test and Mann-Whitney U test was used to compare quantitative variables. The comparison of categorical variables was conducted using χ2 test, Fisher′s exact test or Wilcoxon rank sum test. Results:A total of 33 patients were included in the study, including 16 in the CAS group and 17 in the CAS-MCI group. There were 23 males and 10 females, aged (62.8±9.0) years (range: 48 to 88 years). CAS-MCI group showed higher right CAS grades ( Z=-2.037, P=0.042). Whole-brain cortical QSM analyses showed higher susceptibility values in the frontal pole ((-0.210±0.080)×10 -8vs.(-0.130±0.120)×10 -8; t=-2.187, P=0.037), superior frontal gyrus ((-0.604±0.243)×10 -8vs. (-0.428±0.203)×10 -8; t=-2.223, P=0.034), and temporal pole ((-0.081±0.115)×10 -8vs. (0.054±0.190)×10 -8; t=-2.417, P=0.022) in CAS-MCI group compared to CAS group. The susceptibility value of the frontal pole showed a positive correlation with the right CAS grade ( r=0.424, P=0.009),while a quasi-significant positive correlation with the left CAS ( r=0.313, P=0.070). The susceptibility values of the frontal and temporal poles were negatively correlated with the MoCA score (frontal pole: r=-0.391, P=0.027; temporal pole: r=-0.410, P=0.020). Mediation analysis showed the effect of right CAS on cognition was fully mediated by the susceptibility value of the frontal pole. The ROC curve revealed that the area under the curve of using hypertension combined with the susceptibility value of the frontal pole to predict cognitive decline was 0.882 (95% CI:0.763 to 0.989) with 82% of sensitivity and 83% of specificity. Conclusions:Multiple cortical regions show iron deposition in CAS-MCI patients. Right CAS plays an important role in cognitive decline, frontal pole iron deposition mediates the effect of right CAS on cognitive function. Quantified frontal pole susceptibility is useful for the diagnosis of cognitive decline in patients with CAS.

Patients with severe trauma require an extremely timely treatment and transfusion plays an irreplaceable role in the emergency treatment of such patients. An increasing number of evidence-based medicinal evidences and clinical practices suggest that patients with severe traumatic bleeding benefit from early transfusion of low-titer group O whole blood or hemostatic resuscitation with red blood cells, plasma and platelet of a balanced ratio. However, the current domestic mode of blood supply cannot fully meet the requirements of timely and effective blood transfusion for emergency treatment of patients with severe trauma in clinical practice. In order to solve the key problems in blood supply and blood transfusion strategies for emergency treatment of severe trauma, Branch of Clinical Transfusion Medicine of Chinese Medical Association, Group for Trauma Emergency Care and Multiple Injuries of Trauma Branch of Chinese Medical Association, Young Scholar Group of Disaster Medicine Branch of Chinese Medical Association organized domestic experts of blood transfusion medicine and trauma treatment to jointly formulate Chinese expert consensus on blood support mode and blood transfusion strategies for emergency treatment of severe trauma patients ( version 2024). Based on the evidence-based medical evidence and Delphi method of expert consultation and voting, 10 recommendations were put forward from two aspects of blood support mode and transfusion strategies, aiming to provide a reference for transfusion resuscitation in the emergency treatment of severe trauma and further improve the success rate of treatment of patients with severe trauma.

Objective: To describe the distribution characteristics of hypertension among adult twins in the Chinese National Twin Registry (CNTR) and to provide clues for exploring the role of genetic and environmental factors on hypertension. Methods: A total of 69 220 (34 610 pairs) of twins aged 18 and above with hypertension information were selected from CNTR registered from 2010 to 2018. Random effect models were used to describe the population and regional distribution of hypertension in twins. To estimate the heritability, the concordance rates of hypertension were calculated and compared between monozygotic twins (MZ) and dizygotic twins (DZ). Results: The age of all participants was (34.1±12.4) years. The overall self-reported prevalence of hypertension was 3.8%(2 610/69 220). Twin pairs who were older, living in urban areas, married, overweight or obese, current smokers or ex-smokers, and current drinkers or abstainers had a higher self-reported prevalence of hypertension (P<0.05). Analysis within the same-sex twin pairs found that the concordance rate of hypertension was 43.2% in MZ and 27.0% in DZ, and the difference was statistically significant (P<0.001). The heritability of hypertension was 22.1% (95%CI: 16.3%- 28.0%). Stratified by gender, age, and region, the concordance rate of hypertension in MZ was still higher than that in DZ. The heritability of hypertension was higher in female participants. Conclusions: There were differences in the distribution of hypertension among twins with different demographic and regional characteristics. It is indicated that genetic factors play a crucial role in hypertension in different genders, ages, and regions, while the magnitude of genetic effects may vary.
Adult ; Female ; Humans ; Male ; Alcohol Drinking ; Diseases in Twins/genetics* ; Hypertension/genetics* ; Twins, Dizygotic/genetics* ; Twins, Monozygotic/genetics*

Objective: To describe the distribution characteristics of hyperlipidemia in adult twins in the Chinese National Twin Registry (CNTR) and explore the effect of genetic and environmental factors on hyperlipidemia. Methods: Twins recruited from the CNTR in 11 project areas across China were included in the study. A total of 69 130 (34 565 pairs) of adult twins with complete information on hyperlipidemia were selected for analysis. The random effect model was used to characterize the population and regional distribution of hyperlipidemia among twins. The concordance rates of hyperlipidemia were calculated in monozygotic twins (MZ) and dizygotic twins (DZ), respectively, to estimate the heritability. Results: The age of all participants was (34.2±12.4) years. This study's prevalence of hyperlipidemia was 1.3% (895/69 130). Twin pairs who were men, older, living in urban areas, married,had junior college degree or above, overweight, obese, insufficient physical activity, current smokers, ex-smokers, current drinkers, and ex-drinkers had a higher prevalence of hyperlipidemia (P<0.05). In within-pair analysis, the concordance rate of hyperlipidemia was 29.1% (118/405) in MZ and 18.1% (57/315) in DZ, and the difference was statistically significant (P<0.05). Stratified by gender, age, and region, the concordance rate of hyperlipidemia in MZ was still higher than that in DZ. Further, in within-same-sex twin pair analyses, the heritability of hyperlipidemia was 13.04% (95%CI: 2.61%-23.47%) in the northern group and 18.59% (95%CI: 4.43%-32.74%) in the female group, respectively. Conclusions: Adult twins were included in this study and were found to have a lower prevalence of hyperlipidemia than in the general population study, with population and regional differences. Genetic factors influence hyperlipidemia, but the genetic effect may vary with gender and area.
Adult ; Female ; Humans ; Male ; Middle Aged ; Young Adult ; China/epidemiology* ; Diseases in Twins/genetics* ; Hyperlipidemias/genetics* ; Metabolic Diseases ; Twins, Dizygotic ; Twins, Monozygotic/genetics*

CRISPR/Cas(the clustered regularly interspaced short palindromic repeats-CRISPR associated)system exists in most bacteria and all archaea. It is an important strategy for bacteria and archaea to resist foreign nucleic acid invasion and use for self-defense. The CRISPR/Cas system is a simple, fast, and specific diagnostic tool, which is widely used in agriculture, industry, animal husbandry, and medicine. This article mainly introduces and discusses recently advantages and limitations of biosensors combining CRISPR/Cas system with fluorescence, visualization and surface enhanced raman related technologies, as well as future research directions.
Animals ; CRISPR-Cas Systems ; Bacteria/genetics* ; Archaea

To understand the clinical characteristics of Staphylococcus aureus bloodstream infection and the main risk factors affecting clinical prognosis, providing a reference for clinical prevention and control of Staphylococcus aureus bloodstream infection. In this study, the clinical data of 152 patients with Staphylococcus aureus bloodstream infection admitted to Guangdong Provincial People's Hospital from January 2019 to December 2021 were retrospectively analyzed by reviewing the electronic medical record system, including underlying diseases, clinical characteristics, risk factors, and bacterial resistance. Statistical methods such as Chi-Squared Test and t Test were used to analyze the related risk factors that may affect the clinical characteristics and prognosis of patients with Staphylococcus aureus and methicillin-resistant Staphylococcus aureus (MRSA) bloodstream infection, then the variables with P<0.05 in univariate analysis were included in the multivariate logistic regression model to analyze the independent risk factors of poor prognosis. The results showed among 152 patients with Staphylococcus aureus bloodstream infection, 50 patients (32.89%) were infected with MRSA. In comparison, 102 patients (67.11%) were infected with methicillin-sensitive Staphylococcus aureus (MSSA). Except for rifampicin, the resistance rate of MRSA to commonly used antibiotics was all higher than that of MSSA, and the difference was statistically significant (Chi-square values were 8.272, 11.972, 4.998, 4.776, respectively;all P-values are less than 0.05). Strains resistant to vancomycin, linezolid, and quinupristin/dalfopristin were not found. In the MRSA group, indwelling catheter and drainage tube, carbapenems, and β-lactamase inhibitor treatment were significantly higher than the MSSA group. The difference was statistically significant (P<0.05). The incidence of poor prognosis of bloodstream infection in the MRSA group was higher than that in the MSSA group (34.00% vs 13.73%), and the difference was statistically significant (χ²=8.495, P<0.05). No independent risk factors associated with poor prognosis were found in the included patients with MRSA bloodstream infection.Multivariate Logistic regression model analysis showed that solid malignant tumors (OR=13.576, 95%CI: 3.352-54.977, P<0.05), mechanical ventilation (OR=7.468, 95%CI: 1.398-39.884, P<0.05) were the most important independent risk factors for poor prognosis in patients with Staphylococcus aureus bloodstream infection. In summary, the poor prognosis rate of MRSA bloodstream infection is higher than that of MSSA. The clinical evaluation of related risk factors should be strengthened, targeted prevention and control interventions should be taken to improve the prognosis of patients with Staphylococcus aureus bloodstream infection, and the use of antibiotics should be rational and standardized, to control bacterial infection and drug resistance effectively .
Humans ; Methicillin-Resistant Staphylococcus aureus ; Staphylococcus aureus ; Retrospective Studies ; Prognosis ; Staphylococcal Infections/microbiology* ; Anti-Bacterial Agents/pharmacology* ; Methicillin/therapeutic use* ; Sepsis