Background Self-perceived burden,anxiety and depression are among the most important factors affecting quality of life.At present,there is a lack of understanding on the research status and influencing factors of self-perceived burden in liver transplant recipients.Previous studies have shown that self-perceived burden,anxiety,depression and quality of life are correlated in pairs,but the effecting path among the three are not yet clear.Objective To explore the correlation of self-perceived burden and anxiety/depression with quality of life in liver transplant recipients,so as to provide guidance for psychological nursing intervention in clinical patients.Methods A total of 200 patients liver transplant recipients were enrolled from the liver transplantation inpatient and outpatient clinics of Jiangsu Province Hospital and Qinhuai Medical Area,General Hosptial of Eastern Theater Command of People's Liberation Army of China from March 2022 to February 2023.Patients were evaluated using Self-perceived Burden Scale(SPBS),Hospital Anxiety and Depression Scale(HADS)and the Chinese version of Post Liver Transplant Quality of Life Questionnaire(pLTQ).Spearman correlation analysis was used to examine the correlation among the scales.A structural equation model using Mplus 8.3 was utilized to testify the relationship among self-perceived burden,anxiety/depression and quality of life in liver transplant recipients.Bootstrap method was used to test the effecting pathway.Results There were statistically significant differences in SPBS scores of liver transplant recipients with different levels of education and fannual family income(H=9.656,18.796,P<0.05).There were statistically significant differences in HADS scores of liver transplant recipients with different numbers of somatic symptoms(H=9.859,P<0.05).There were statistically significant differences in the Chinese version of pLTQ scores of liver transplant recipients with different levels of education,postoperative survival time and numbers of somatic symptoms(H=6.892,8.023,16.099,P<0.05).The total and each dimension scores in SPBS of liver transplant recipients were positively correlated with the total score and anxiety/depression dimension scores in HADS(r=0.464～0.586,0.460～0.593,0.286～0.408,0.464～0.583,P<0.01)and negatively correlated with the total score and each dimension scores in the Chinese version of pLTQ(r=-0.572～-0.416,-0.599～-0.441,-0.365～-0.213,-0.559～-0.428,P<0.01).Structural equation model denoted that self-perceived burden negatively affected quality of life(β=-0.186,P<0.01).Anxiety/depression also negatively affected quality of life(β=-0.679,P<0.01).The self-perceived burden indirectly affected the quality of life of liver transplant recipients through anxiety and depression,with an effect value of-0.429,accounting for 69.76％of the total effect.Conclusion The quality of life in liver transplant recipients may be related to their self-perceived burden and anxiety/depression.Self-perceived burden may affect the quality of life of liver transplant patients through anxiety and depression.

Objective:To construct T cell receptor β (TCRβ) repertoires in children with SARS-CoV-2 infection, and analyze the differences in TCRβ repertoires between children with SARS-CoV-2 infection and healthy children.Methods:Whole blood samples from 5 children infected with SARS-CoV-2 Delta variant and from 5 healthy children were collected. After RNA quality inspection and repertoires construction, high-throughput sequencing was conducted to analyze the differences in clonal expansion and diversity indices of the TCR repertoires between children infected with SARS-CoV-2 and healthy children. The frequency of use of TCRβ VJ genes was statistically analyzed using unpaired T-tests.Results:We successfully constructed the TCRβ repertoires of children infected with SARS-CoV-2 using high-throughput sequencing technology. The diversity index of the TCR repertoire in children infected with SARS-CoV-2 (9.78±1.23) was significantly lower compared to that in healthy children (13.40±2.12) ( P<0.05), and the TCR clonal expansion index in children infected with SARS-CoV-2 (0.18±0.07) was significantly higher compared to that in healthy children (0.06±0.06) ( P<0.05). A preliminary comparison of the frequency of use of TCRβ repertoire VJ genes found that, in children infected with the SARS-CoV-2, the most common V and J genes were TRBV28 and TRBJ2-1, respectively. Conclusions:The construction of the TCRβ repertoires in children infected with SARS-CoV-2 using high-throughput sequencing technology has revealed characteristic features of the TCRβ repertoires in these children. This is of significant reference value for unveiling the characteristics of the T-cell repertoires in children infected with SARS-CoV-2 and for the rapid construction of TCRβ immunological repertoires in other viral infections.

Objective To understand the genotypes of neonatal thalassemia in Huaihua City from 2020 to 2022.Methods A retrospective analysis was performed on 46 931 newborns screened for thalassemia from January 2020 to December 2022 in Huaihua City.Results 4443 cases were positive in preliminary screening,2153 cases were recalled,and 1536 cases were confirmed with thalassemia gene.There were 1077 cases(70.12%)of α-thalassemia diagnosed by gene.431(28.06%)cases of β-thalassemia;Intermediate α-thalassemia(4 cases);The clinical phenotypes were mainly static α-thalassemia,mild α-thalassemia and mild β-thalassemia.Conclusion The neonatal thalassemi in huaihua city is mainly α-thalassemia,and the rest type and mild type are more common.The gene carrying rate of newborn thalassemia in Huaihua City is higher than the national average level,the regional distribution is uneven,and the situation of thalassemia prevention and control is serious.

Objective:To explore the pathogenesis of primary hemophagocytic syndrome with UNC13D and MYO5A gene mutations.Methods:A case of adult hemophagocytic syndrome with gene mutation of UNC13D and MYO5A admitted to The 940th Hospital of the Joint Logistic Support Force of the PLA on January 28, 2022 was retrospectively analyzed in terms of laboratory examination, gene atlas of its close relatives and prognosis, and related literature was reviewed.Results:The patient was finally diagnosed with primary hemophagocytic syndrome, and chemotherapy was performed twice with hemophagocytic lymphohistiocytosis(HLH)-2004 regimen. The HLA matching of his cytoplasm was semi-compatible. Considering that his cytoplasm carried blood-macrophage related genes, it was not suitable to be selected as a donor, and there were no other suitable relatives. He was transferred to another hospital for allogeneic hematopoietic stem cell transplantation, but failed to receive allogeneic hematopoietic stem cell transplantation during telephone follow-up, and died.Conclusion:The gene mutation of primary hemophagocytic syndrome is the gold standard for the diagnosis of primary HLH. There may be dual gene inheritance pattern in primary HLH, and the combination of immune disorder caused by viral infection and genetic factors may lead to the pathogenesis of primary HLH.

Objective:To analyze the costs and effectiveness of five common screening modes and genetic screening for thalassemia in China in order to find the optimal way and provide evidence for the implementation of thalassemia prevention and control projects in Hunan Province.Methods:From June 2020 to April 2021, 12 971 couples from 14 cities and autonomous prefectures in Hunan Province were selected as the study population. The diagnosis of thalassemia was based on the results of genetic testing. Results of routine blood test and hemoglobin electrophoresis were collected and analyzed. The efficacy of five screening modes, at the cut-off value of <80 fl or 82 fl for the mean corpuscular volume (MCV), was analyzed by positive predictive value, negative predictive value, Jorden index and cost-effectiveness ratio. Sensitivity analysis was used to assess the feasibility of genetic screening at different costs after fixing the costs of routine blood and hemoglobin electrophoresis. The five thalassemia screening models are as follows: Mode 1: The woman had a blood routine test first. If the result was positive, the spouse required a blood routine test. If both results were positive, a thalassemia gene test should be offered to the couple. Mode 2: Both husband and wife were screened by blood routine and hemoglobin electrophoresis. If one or both of them were positive, both would be tested for thalassemia gene. Mode 3: The couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing. Mode 4: The woman was screened by blood routine and hemoglobin electrophoresis. If any one of them was positive, the woman would be tested for thalassemia gene. If the gene test result was positive, the spouse should receive thalassemia gene. Mode 5: Both spouses conducted a blood routine test. If either was positive, both would conduct hemoglobin electrophoresis test. If both were positive, both spouses should receive thalassemia gene testing. Gene testing mode: The woman would be tested for thalassemia, and her spouse would have thalassemia test too if her result was positive.Results:When using MCV<80 fl as the cut-off for diagnosing thalassemia, the Youden indices of the five prenatal screening modes in Hunan Province were 0.551, 0.639, 0.898, 0.555 and 0.356, while when using MCV<82 fl as the cut-off, the Youden indices were 0.549, 0.629, 0.851, 0.548 and 0.356. When the MCV cut-off value was <80 fl, the missed diagnosis rates of the five screening modes were 44.44%, 0.00, 0.00, 18.52% and 62.96%, and the cost-effectiveness ratios were 21 709, 250 939, 76 870, 138 463 and 92 860 yuan (RMB)/couple, respectively. When the price of genetic testing was lower than 55 yuan (RMB), the cost-effectiveness ratio of genetic screening was lower than that of Mode 3.Conclusions:MCV<80 fl can be considered as the positive criteria in blood routine screening for thalassemia in Hunan Province, and the cost-effectiveness ratio of Mode 3 (the couple received blood routine tests initially. If either was positive, both should receive hemoglobin electrophoresis testing. If either was positive, both parties will conduct thalassemia gene testing) is the best. Genetic screening has certain advantages with the decreasing price.

We report the prenatal diagnosis and treatment of a case of primary right pulmonary deficiency. A routine ultrasound examination at 23 +6 weeks of gestation found an absent right lung, enlarged left lung, and dextroposition of the heart in a female fetus. Karyotype and chromosome microarray analysis of the amniotic fluid was normal. After multidisciplinary consultation, the pregnant woman chose to continue the pregnancy and had a normal delivery at 39 +2 gestational weeks. Apgar scores were ten at both 1 min and 5 min after birth, with no abnormal appearance of the baby, or signs of thoracic collapse other than no obvious respiratory sounds in the right lung. Both postnatal chest X-ray and CT scan indicated an undeveloped right lung. Cardiac ultrasonography revealed the absence of the right pulmonary artery and vein. The patient's breathing was stable during hospitalization and she was discharged eight days after birth. The infant was followed up at five months, and the growth and development were comparable to children of the same age.

Objective:To investigate the proportion of helper T lymphocytes 22(Th22) and levels of interleukin(IL)-22 in peripheral blood of children with juvenile idiopathic arthritis (JIA), and analyze their relevance with JIA-related inflammatory cytokines.Methods:A total of 30 children with JIA who received treatment at the Department of Rheumatology, the Affiliated Children′s of Capital Institute of Pediatrics from November 2018 to December 2019 were enrolled as JIA group, and 12 healthy children at the same age were selected as healthy control group.The percen-tage of Th22 cells in peripheral blood was detected using flow cytometry.Concentrations of IL-22, IL-6, tumor necrosis factor(TNF-α), IL-17 and IL-10 were measured by enzyme-linked immunosorbent assay.Statistical analysis of the relevance of Th22 cells, IL-22 levels and inflammatory cytokines levels of IL-6, TNF-α, IL-17 and IL-10 in JIA were performed by Pearson test. Results:The proportion of Th22 cells in peripheral blood of patients in JIA group[(0.94±0.26)%] was higher than that of the healthy control group [(0.46±0.29)%], and the difference was statistically significant ( t=2.227, P<0.05). Plasma level of IL-22 of patients in JIA group[(185.2±11.93) ng/L] was significantly higher than that of healthy control group[(114.7±6.29) ng/L], and the difference was statistically significant ( t=3.632, P<0.001). The proportion of Th22 cells and the levels of plasma IL-22 in JIA patients were positively correlated with plasma levels of IL-6 (Th22: r=0.501, IL-22: r=0.573, all P<0.01), IL-17 (Th22: r=0.686, P<0.001; IL-22: r=0.445, P<0.01) and IL-10 (Th22: r=0.609, IL-22: r=0.284, all P<0.001). There was no relationship for Th22 cells and plasma levels of IL-22 with TNF-α. Conclusions:The proportion of Th22 cells and plasma levels of IL-22 significantly increase in peripheral blood of JIA patients and correlated with JIA-related inflammatory cytokines, which may play a potential role in the pathogenesis of JIA disease.

Objective    To analyze the risk factors of the death associated with infective endocarditis, and to evaluate the timing of surgical treatment of infective endocarditis. Methods    We retrospectively analyzed the clinical data of 62 patients with infective endocarditis in our hospital between August 2015 and August 2017. There were 43 males and 19 females at age of 19–75 (46.1±16.6) years. The clinical data were divided into a death group and a survival group, a paravalvular leakage group and a no periannular leakage group, an emergency operation group and a non-emergency operation group.The risk factors of infective endocarditis and the choice of operation time were analyzed. Results    Three of the 62 patients (4.8%) died after surgery. Postoperative perivalvular leakage (regurgitation over 2 mm) in 8 patients, accounting for 12.9% of the total. Univariate analysis showed that albumin content, creatinine level, total cardiopulmonary bypass time and ascending aorta occlusion time were significantly associated with early postoperative mortality (P<0.05). The results of logistic analysis showed that age, preoperative albumin level, creatinine level, total cardiopulmonary bypass time, and ascending aorta occlusion time were significantly associated with early postoperative perivascular leakage (P<0.05), and long ascending aorta occlusion time is an independent risk factor for early death (P<0.05). There was no statistical difference in early death and the perivalve leakage between the emergency operation and the non emergency operation. Conclusion    Patients with infective endocarditis should accept early surgical treatment. The choice of surgical approach should be selected according to the actual situation of patients. And we should pay more attention to albumin and creatinine levels in preoperative patients. In the operation, to shorten extracorporeal circulation  time and aortic clamping time can improve the prognosis of patients.

Infective endocarditis is a serious cardiovascular infectious diseases,neoplasm abscission often leading to organs embolism,such as brain,lung and kidney embolism.And then it usually leads organ failure,which is a fatal disease that seriously affect the life quality of patients,even death.The conventional view is that infective endocarditis often requires early anti infection treatment and surgical procedures after the treatment is ineffective.By reviewing the relevant literature,we found that the surgical treatment of infective endocarditis is effective.Early diagnosis,early regular course of anti infection treatment and early surgery can often improve the prognosis of patients.

Objective To discuss the expression and clinical significance of microRNA(miR)- 766 in chil-dren with polyarticular juvenile idiopathic arthritis (poly - JIA). Methods A total of 23 children with poly - JIA who received treatment at the Department of Rheumatology,the Affiliated Children′s Hospital of Capital Institute of Pediat-rics,from November 2014 to September 2016,were enrolled as research group,and 24 healthy children at the same age were selected as healthy control group,while 24 children with oligoarticular juvenile idiopathic arthritis (oligo - JIA) and 19 children with juvenile ankylosing spondylitis (JAS)were selected as case - control groups. The expression lev-els of miR - 766 in plasmas were detected by real - time quantitative polymerase chain reaction (qPCR). The clinical diagnostic values were analyzed by operating characteristic curve (ROC). Correlations between the expression levels of miR - 766 and clinical,laboratory results were analyzed by conducting Pearson correlation coefficient analysis. Results Compared with the healthy control group and case - control group,the expression levels of miR - 766 in poly - JIA group decreased,and the differences were statistically significant (t = 6. 897,6. 446,6. 218,all P < 0. 001). There was no statistical difference of miR - 766 levels in plasma between case - control groups and healthy control group (P >0. 05). Compared with the healthy control group,the area under ROC curve of miR - 766 was 0. 938 (95％ CI:0. 872 -1. 000),and when the cutoff value of miR - 766 was 6. 083 pmol/ L,the sensitivity was 87. 0％ and the specificity was 91. 7％ . Compared with oligo - JIA and JAS,the area under ROC curves of miR - 766 was 0. 908 (95％ CI:0. 819 -0. 996)and 0. 927 (95％ CI:0. 865 - 1. 000),respectively. Correlation analysis indicated that the level of miR - 766 in plasma of poly - JIA children was positively associated with hemoglobin (r = 0. 651,P < 0. 001),but negatively asso-ciated with the 28 - joint Disease Activity Score (DAS28)and the percentage of type 1 helper T cells(Th1％)(r =- 0. 434,P = 0. 038;r = - 0. 417,P = 0. 008). Conclusions The expression levels of plasma miR - 766 in poly - JIA are significantly decreasing. miR -766 may serve as an evaluation indicator for the diagnosis and prognosis of poly - JIA.