ObjectiveTo investigate the distribution patterns of hepatitis C virus (HCV) genotypes and their clinical characteristics in Qinghai Province, and to provide a theoretical basis for the elimination of hepatitis C in this region. MethodsA total of 527 hepatitis C patients from Qinghai Provincial Infectious Diseases Hospital from August 2023 to August 2024 were selected as the research subjects. Polymerase chain reaction (PCR) sequencing was used to determine the HCV genotypes of the hepatitis C patients, and the distribution patterns of HCV genotypes and the clinical characteristics of different genotypes in this region were observed. ResultsThe 527 hepatitis C patients were mainly distributed in Xining City and Haidong City, with the majority being male patients aged between 48 and <60 years. A total of 4 genotypes and7 subtypes were found, with genotype 2 being the most prevalent one (219 cases, 41.56%), followed by genotype 3 (173 cases, 32.83%),genotype 1 (131 cases, 24.86%) and genotype 6 (6 cases, 0.76%). There were statistically significant differences in gender, age, disease progression, population classification, residential address, transmission route, and liver inflammation indicators among different HCV subtypes (all P<0.05). Genotype 1 and genotype 2 accounted for a higher proportion in chronic hepatitis C patients under 40 years old, females, and transmitted through blood transfusions and invasive procedures, while genotype 3 were more common in male patients, aged ≥40 years old, those infected through intravenous drug use, and those were prone to progress to liver cirrhosis (mainly subtype 3b). Farmers, houseworkers and unemployed people were the main population groups in all genotypes. Compared with other genotypes, genotype 3 had higher levels of aspartate aminotransferase and alpha-fetoprotein and lower platelet counts, suggesting that the severity of the disease was related to different genotypes. ConclusionGenotype 2 and genotype 3 are the main types in Qinghai Province. The composition ratio of genotype 3, which is mainly transmitted through intravenous drug use, is increasing and more likely to progress to liver cirrhosis. This highlights the need to focus on the prevention, treatment and management of genotype 3.

Objective:To summarize the clinical and genetic characteristics of pseudoachondroplasia and multiple epiphyseal dysplasia caused by COMP gene variants in pediatric patients.Methods:This retrospective study concluded 15 pediatric patients with COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia at Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine from July 2013 to August 2024. This paper analyzed clinical manifestations, laboratory findings and genetic testing.Results:This cohort comprised 15 pediatric patients (8 males and 7 females) with a diagnostic age of 5.3 (1.8,9.3) years. The major clinical presentations included abnormal gait (15/15), brachydactyly (11/15), genu varum (12/15), irregular metaphyseal changes (14/14) and epiphyseal dysplasia (14/14). Genetic analysis revealed 13 cases of pseudoachondroplasia and 2 multiple epiphyseal dysplasias cases associated with COMP gene variants. Fifteen variants were identified (8 pathogenic and 7 likely pathogenic), including 2 novel variants (c.1223A>G, c.1378G>C). Thirteen of these patients had variations clustered in exons 8-14 encoding the calmodulin-like domains, with c.1414_1419dupGACGAC emerging as a hotspot variant.Conclusions:COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia predominantly manifest with gait abnormalities and skeletal deformities. COMP gene pathogenic variations were mainly located in calmodulin-like domains.

Objective:To summarize and investigate the ultrasound manifestations, clinical characteristics, causes, and prognosis of hepatic portal vein gas (HPVG) after liver transplantation in children.Methods:A case series study. Clinical data of 9 pediatric recipients diagnosed with HPVG by ultrasound after liver transplantation between January 2012 and August 2023 were collected, and the ultrasound manifestations, causes, clinical features, and prognosis of HPVG were analyzed.Results:A total of 1,850 pediatric liver transplantations were performed during the same period in Tianjin First Central Hospital, among which 9 cases (0.48%) developed HPVG; 6 cases occurred within 1 month after surgery, and 3 cases occurred more than 1 month after surgery; the duration ranged from 2 to 15 days, with a median of 7 (4.5, 9.0) days. HPVG was first detected by ultrasound in all cases, with common ultrasound manifestations including bubble-like or punctate strong echoes flowing with blood in the portal vein, and patchy strong echoes with unclear borders in the liver parenchyma. Among the 9 patients, 3 had diarrhea with intestinal flora imbalance, 2 had abdominal distension with incomplete intestinal obstruction, 1 had colonic fistula with repeated replacement of Li's tube and concurrent abdominal distension, 1 was experiencing acute T-cell-mediated rejection of the transplanted liver, and the remaining 2 were asymptomatic. Patients with diarrhea and intestinal dysbiosis were treated with Bifidobacterium Lactobacillus triple viable tablets to regulate flora and montmorillonite powder to relieve diarrhea, which gradually subsided. Patients with abdominal distension and incomplete intestinal obstruction were treated with fasting, intravenous nutrition, and enema, and the obstruction gradually resolved, along with disappearance of HPVG.Conclusion:HPVG after liver transplantation has characteristic ultrasound manifestations, and its occurrence may be related to intestinal gas, obstruction, dysbiosis, or mucosal damage. Treatment may be conservative or surgical depending on the underlying cause and severity.

Objective To investigate the clinical features of chronic hepatitis C(CHC)patients with hepatitis C virus genotype 3(HCV GT3)infection and the risk factors for disease progression.Methods A multicenter retrospective cohort study was conducted among 1 002 CHC patients from 11 clinical centers in Northwest China from December 2017 to November 2023,and according to their genotype,they were divided into GT1,GT2,GT3,and GT6 groups.Clinical features were compared between the patients with different genotypes.The one-way analysis of variance was used for comparison of normally distributed continuous data between groups,and the Scheffe test was used for further comparison between two groups.The Kruskal-Wallis H test was used for comparison of data with skewed distribution between groups;the chi-square test or Fisher test was used for comparison of categorical data between groups.The multivariate logistic regression analysis was used to explore the influencing factors for the progression of CHC to liver cirrhosis.Results In terms of the genotype,there were 427 patients with GT1 infection,242 with GT2 infection,299 with GT3 infection(210 patients with GT3a infection,87 with GT3b infection,and 2 with unclassified genotype),and 34 with GT6 infection.The patients with GT3 infection had a significantly younger age than those with GT1 infection(51.3±0.5 years vs 53.2±0.6 years,P<0.05)or GT2 infection(51.3±0.5 years vs 53.7±0.8 years,P<0.05),and for the patients with liver cirrhosis,the patients with GT3 infection had a significantly younger age than those with GT1 infection(52.1±0.5 years vs 59.4±0.9 years,P<0.001)or GT2 infection(52.1±0.5 years vs 58.1±1.1 years,P<0.001).Among the patients with GT3 infection,male patients accounted for 77.9%and the patients with liver cirrhosis accounted for 46.2%,which were significantly higher than those among the patients with GT1,GT2 or GT6 infection(all P<0.001).At baseline,the patients with GT3 infection had significantly higher levels of alanine aminotransferase(ALT)and aspartate aminotransferase(AST)than those with GT1 or GT2 infection,significantly higher aspartate aminotransferase-to-platelet ratio index(APRI)and fibrosis-4(FIB4)than those with GT1,GT2 or GT6 infection,a significantly lower platelet count(PLT)than those with GT2 or GT6 infection,a significantly higher level of alpha-fetoprotein than those with GT2 or GT6 infection,and a significantly lower level of albumin(Alb)than those with GT6 infection(all P<0.05).There were no significant differences between the patients with GT3a infection and those with GT3b infection in age,sex,the proportion of patients with liver cirrhosis,comorbidities,HCV RNA quantification,PLT,ALT,AST,alkaline phosphatase,Alb,APRI,and FIB-4(all P>0.05).The multivariate logistic regression analysis showed that PLT≤150×109/L(odds ratio[OR]=10.72,95%confidence interval[CI]:5.76-35.86,P<0.001)and Alb≤35 g/L(OR=3.74,95%CI:1.22-11.45,P=0.021)were risk factors for liver cirrhosis.Conclusion Most CHC patients with GT3 infection are male in Northwest China,and compared with the patients with other genotypes,such patients tend to have a younger age of onset and higher degrees of liver inflammation activity and fibrosis.Low PLT and a low level of Alb are risk factors for progression to liver cirrhosis in CHC patients with GT3 infection.

Objective To investigate the clinical features of chronic hepatitis C(CHC)patients with hepatitis C virus genotype 3(HCV GT3)infection and the risk factors for disease progression.Methods A multicenter retrospective cohort study was conducted among 1 002 CHC patients from 11 clinical centers in Northwest China from December 2017 to November 2023,and according to their genotype,they were divided into GT1,GT2,GT3,and GT6 groups.Clinical features were compared between the patients with different genotypes.The one-way analysis of variance was used for comparison of normally distributed continuous data between groups,and the Scheffe test was used for further comparison between two groups.The Kruskal-Wallis H test was used for comparison of data with skewed distribution between groups;the chi-square test or Fisher test was used for comparison of categorical data between groups.The multivariate logistic regression analysis was used to explore the influencing factors for the progression of CHC to liver cirrhosis.Results In terms of the genotype,there were 427 patients with GT1 infection,242 with GT2 infection,299 with GT3 infection(210 patients with GT3a infection,87 with GT3b infection,and 2 with unclassified genotype),and 34 with GT6 infection.The patients with GT3 infection had a significantly younger age than those with GT1 infection(51.3±0.5 years vs 53.2±0.6 years,P<0.05)or GT2 infection(51.3±0.5 years vs 53.7±0.8 years,P<0.05),and for the patients with liver cirrhosis,the patients with GT3 infection had a significantly younger age than those with GT1 infection(52.1±0.5 years vs 59.4±0.9 years,P<0.001)or GT2 infection(52.1±0.5 years vs 58.1±1.1 years,P<0.001).Among the patients with GT3 infection,male patients accounted for 77.9%and the patients with liver cirrhosis accounted for 46.2%,which were significantly higher than those among the patients with GT1,GT2 or GT6 infection(all P<0.001).At baseline,the patients with GT3 infection had significantly higher levels of alanine aminotransferase(ALT)and aspartate aminotransferase(AST)than those with GT1 or GT2 infection,significantly higher aspartate aminotransferase-to-platelet ratio index(APRI)and fibrosis-4(FIB4)than those with GT1,GT2 or GT6 infection,a significantly lower platelet count(PLT)than those with GT2 or GT6 infection,a significantly higher level of alpha-fetoprotein than those with GT2 or GT6 infection,and a significantly lower level of albumin(Alb)than those with GT6 infection(all P<0.05).There were no significant differences between the patients with GT3a infection and those with GT3b infection in age,sex,the proportion of patients with liver cirrhosis,comorbidities,HCV RNA quantification,PLT,ALT,AST,alkaline phosphatase,Alb,APRI,and FIB-4(all P>0.05).The multivariate logistic regression analysis showed that PLT≤150×109/L(odds ratio[OR]=10.72,95%confidence interval[CI]:5.76-35.86,P<0.001)and Alb≤35 g/L(OR=3.74,95%CI:1.22-11.45,P=0.021)were risk factors for liver cirrhosis.Conclusion Most CHC patients with GT3 infection are male in Northwest China,and compared with the patients with other genotypes,such patients tend to have a younger age of onset and higher degrees of liver inflammation activity and fibrosis.Low PLT and a low level of Alb are risk factors for progression to liver cirrhosis in CHC patients with GT3 infection.

Objective:To summarize the clinical and genetic characteristics of pseudoachondroplasia and multiple epiphyseal dysplasia caused by COMP gene variants in pediatric patients.Methods:This retrospective study concluded 15 pediatric patients with COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia at Shanghai Children′s Medical Center, Shanghai Jiao Tong University School of Medicine from July 2013 to August 2024. This paper analyzed clinical manifestations, laboratory findings and genetic testing.Results:This cohort comprised 15 pediatric patients (8 males and 7 females) with a diagnostic age of 5.3 (1.8,9.3) years. The major clinical presentations included abnormal gait (15/15), brachydactyly (11/15), genu varum (12/15), irregular metaphyseal changes (14/14) and epiphyseal dysplasia (14/14). Genetic analysis revealed 13 cases of pseudoachondroplasia and 2 multiple epiphyseal dysplasias cases associated with COMP gene variants. Fifteen variants were identified (8 pathogenic and 7 likely pathogenic), including 2 novel variants (c.1223A>G, c.1378G>C). Thirteen of these patients had variations clustered in exons 8-14 encoding the calmodulin-like domains, with c.1414_1419dupGACGAC emerging as a hotspot variant.Conclusions:COMP-related pseudoachondroplasia and multiple epiphyseal dysplasia predominantly manifest with gait abnormalities and skeletal deformities. COMP gene pathogenic variations were mainly located in calmodulin-like domains.

Objective:To summarize and investigate the ultrasound manifestations, clinical characteristics, causes, and prognosis of hepatic portal vein gas (HPVG) after liver transplantation in children.Methods:A case series study. Clinical data of 9 pediatric recipients diagnosed with HPVG by ultrasound after liver transplantation between January 2012 and August 2023 were collected, and the ultrasound manifestations, causes, clinical features, and prognosis of HPVG were analyzed.Results:A total of 1,850 pediatric liver transplantations were performed during the same period in Tianjin First Central Hospital, among which 9 cases (0.48%) developed HPVG; 6 cases occurred within 1 month after surgery, and 3 cases occurred more than 1 month after surgery; the duration ranged from 2 to 15 days, with a median of 7 (4.5, 9.0) days. HPVG was first detected by ultrasound in all cases, with common ultrasound manifestations including bubble-like or punctate strong echoes flowing with blood in the portal vein, and patchy strong echoes with unclear borders in the liver parenchyma. Among the 9 patients, 3 had diarrhea with intestinal flora imbalance, 2 had abdominal distension with incomplete intestinal obstruction, 1 had colonic fistula with repeated replacement of Li's tube and concurrent abdominal distension, 1 was experiencing acute T-cell-mediated rejection of the transplanted liver, and the remaining 2 were asymptomatic. Patients with diarrhea and intestinal dysbiosis were treated with Bifidobacterium Lactobacillus triple viable tablets to regulate flora and montmorillonite powder to relieve diarrhea, which gradually subsided. Patients with abdominal distension and incomplete intestinal obstruction were treated with fasting, intravenous nutrition, and enema, and the obstruction gradually resolved, along with disappearance of HPVG.Conclusion:HPVG after liver transplantation has characteristic ultrasound manifestations, and its occurrence may be related to intestinal gas, obstruction, dysbiosis, or mucosal damage. Treatment may be conservative or surgical depending on the underlying cause and severity.

Objective:To obtain the normal reference range of hemodynamic ultrasound parameters after pediatric liver transplantation through big data query and statistical analysis, and compare their changes with age.Methods:The clinical liver transplantation ultrasound imaging database software V1.0 independently developed by Tianjin First Central Hospital was used to query the ultrasound hemodynamic parameters of 0-14 years old pediatric patients after parental liver transplantation from December 2012 to December 2022, including portal vein diameter (PVD) on the 1st day, 7th day, 1st month, 6th month, 1st year, 5th year, and 10th year after surgery. The changes in ultrasound blood flow parameters such as portal vein velocity (PVV), hepatic artery peak velocity (S), hepatic artery end diastolic velocity (D), and left hepatic vein velocity (LHVV) with postoperative time in different age groups were analyzed, the differences between age groups were compared, and statistical analysis was perform to obtain the 95% reference value range for each parameter.Results:A total of 731 pediatric patients aged 0-14 years who underwent parental liver transplantation were included in this study, with a total of 5 283 monitoring results. The ultrasound hemodynamic parameters PVV, hepatic artery S, D, and LHVV were highest at 7th day after surgery, and gradually showed a sustained and slightly decreasing trend with the prolongation of postoperative time. At the same time, there was no statistically significant difference in PVV, hepatic artery S, D, and LHVV among different age groups (all P>0.05). Conclusions:This study obtains the trend of ultrasound hemodynamic parameters after pediatric liver transplantation with prolonged follow-up time, and compared them among different age groups.After pediatric liver transplantation, there is no significant change in liver hemodynamic parameters with increasing age. Obtaining reference value ranges for various parameters in different age groups is of great clinical significance for early detection and diagnosis of postoperative vascular complications. Pediatric liver transplantation is more complex than adult liver transplantation, and in clinical monitoring, more attention should be paid to the dynamic changes of transplanted liver blood flow, combining with individual patient status, to provide imaging support for clinical diagnosis.

Objective:To investigate the application value of Th1/Th2 cytokines,interleukin-17(IL-17)and serum tumor markers in the diagnosis,prognosis and recurrence of breast cancer.Methods:A total of 200 patients with breast cancer admitted to Inner Mongolia Hospital of Peking University Cancer Hospital from December 2021 to December 2022 were selected,and they were divided into negative group(60 cases),weakly positive(80 cases)group and positive group(60 cases)according to immunohistochemistry indicators.In addition,another 60 persons who underwent physical examination were selected as healthy control group.The changes of the Th1/Th2,IL-17,CA125,CYFRA21-1,CA153 and CEA levels were observed,and the clinical value of the combined detection of the 6 indicators in predicting the prognosis and recurrence of breast cancer was investigated.Results:The results of comparative analysis indicated that the clinical pathological features related to recurrence,histological grading,tumor diameter and lymph node metastasis(x2=7.552,12.037,12.063,8.543,P＜0.05),respectively.Multivariate analysis showed that tumor recurrence,tissue grading,tumor diameter and lymph node metastasis were the important factors for the prognosis of patients with breast cancer(OR=3.096,3.050,3.425,3.031,P＜0.05).Compared with the single prediction of Th1/Th2,IL-17,CA125,CYFRA21-1,CA153 and CEA,the combined prediction of 6 indicators had higher clinical value for prognosis and recurrence of patients with breast cancer,which sensitivity,accuracy and specificity were respectively 96%,93.46%and 85%.Conclusion:The observation on the changes of the combined predictive levels of 6 items,which include Th1/Th2,IL-17,CA125,CYFRA21-1,CA153 and CEA of patients,indicates that the combined detection has high sensitivity and accuracy.This highly efficient and convenient detection method can provide references for improving the prognosis,reducing the recurrence and enhancing the accuracy of assessment.

Objective:To investigate the value of systemic inflammatory response syndrome (SIRS), pediatric sequential organ failure assessment (pSOFA) and pediatric critical illness score (PCIS) in predicting mortality of pediatric sepsis in pediatric intensive care units (PICU) from Southwest China.Methods:This was a prospective multicenter observational study. A total of 447 children with sepsis admitted to 12 PICU in Southwest China from April 2022 to March 2023 were enrolled. Based on the prognosis, the patients were divided into survival group and non-survival group. The physiological parameters of SIRS, pSOFA and PCIS were recorded and scored within 24 h after PICU admission. The general clinical data and some laboratory results were recorded. The area under the curve (AUC) of the receiver operating characteristic curve was used to compare the predictive value of SIRS, pSOFA and PCIS in mortality of pediatric sepsis.Results:Amongst 447 children with sepsis, 260 patients were male and 187 patients were female, aged 2.5 (0.8, 7.0) years, 405 patients were in the survival group and 42 patients were in the non-survival group. 418 patients (93.5%) met the criteria of SIRS, and 440 patients (98.4%) met the criteria of pSOFA≥2. There was no significant difference in the number of items meeting the SIRS criteria between the survival group and the non-survival group (3(2, 4) vs. 3(3, 4) points, Z=1.30, P=0.192). The pSOFA score of the non-survival group was significantly higher than that of the survival group (9(6, 12) vs. 4(3, 7) points, Z=6.56, P<0.001), and the PCIS score was significantly lower than that of the survival group (72(68, 81) vs. 82(76, 88) points, Z=5.90, P<0.001). The predictive value of pSOFA (AUC=0.82) and PCIS (AUC=0.78) for sepsis mortality was significantly higher than that of SIRS (AUC=0.56) ( Z=6.59, 4.23, both P<0.001). There was no significant difference between pSOFA and PCIS ( Z=1.35, P=0.176). Platelet count, procalcitonin, lactic acid, albumin, creatinine, total bilirubin, activated partial thromboplastin time, prothrombin time and international normalized ratio were all able to predict mortality of sepsis to a certain degree (AUC=0.64, 0.68, 0.80, 0.64, 0.68, 0.60, 0.77, 0.75, 0.76, all P<0.05). Conclusion:Compared with SIRS, both pSOFA and PCIS had better predictive value in the mortality of pediatric sepsis in PICU.