The expression of WT1 gene and its clinical characteristics in children with acute lymphoblastic leukemia / 中国医师进修杂志

Objective:To investigate the expression of WT1 gene in children with acute lymphoblastic leukemia (ALL), and explore its clinical characteristics and correlation with the prognosis of ALL.Methods:The clinical data of 183 children with newly diagnosed ALL in Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology from January 2015 to May 2019 were retrospectively analyzed. The expression level of WT1 gene in bone marrow samples was detected by real-time fluorescence quantitative polymerase chain reaction. The children were followed up to June 2021 with a median follow-up time of 46 months (0 to 63 months).Results:Among 183 children with ALL, the WT1 gene positive was in 130 cases (71.04%), and the expression level was 1.41% (0.26%, 6.73%); WT1 gene negative was in 53 cases (28.96%). The expression levels of WT1 gene in children with T-cell lymphoblastic leukemia (T-ALL), non-hyperdiploid and middle/high-risk were significantly increased, and there were statistical differences ( P<0.05 or <0.01); however, there were no statistical differences in the expression levels of WT1 gene between children with different gender, chromosome karyotype, hepatosplenomegaly and the first diagnosis white blood cell count ( P>0.05). There were no statistical differences in complete remission rate and recurrence rate after induction chemotherapy between WT1 gene positive children and WT1 gene negative children: 87.69% (114/130) vs. 86.79% (46/53) and 16.15% (21/130) vs. 18.87% (10/53), P>0.05. By the end of follow-up, 179 children were followed up, and there was no statistical difference in survival rate between WT1 gene positive children and WT1 gene negative children: 89.68% (113/126) vs. 86.79% (46/53), P>0.05. Among the children with WT1 gene positive, relapse was in 21 cases, and there was no statistical difference in the expression level of WT1 gene after complete remission or after relapse, compared with that while the first diagnosis ( P>0.05); among non-relapse children, 96 completed the detection, the expression level of WT1 gene after complete remission was significantly lower than the first diagnosis: 0.17% (0.04%, 0.49%) vs. 2.01% (0.41%, 8.82%), and there was statistical difference ( P<0.01). Kaplan-Meier survival curve analysis result showed there was no statistical difference in survival time between WT1 gene positive children and WT1 gene negative children ( P>0.05). According to the median expression level of WT1 gene (1.41%), the children with WT1 gene positive were divided into high expression (66 cases) and low expression (64 cases), there was no statistical difference in survival time between high expression children and low expression children ( P>0.05). Conclusions:WT1 gene is commonly expressed in children with ALL and is associated with some clinical features and prognosis of the children. Decreased WT1 gene expression may result in better prognosis.

Integrated management during the perinatal period for total anomalous pulmonary venous connection / 中国当代儿科杂志

OBJECTIVES@#To evaluate the clinical effectiveness of integrated management during the perinatal period for fetuses diagnosed with total anomalous pulmonary venous connection (TAPVC) by prenatal echocardiography.@*METHODS@#Clinical data of 64 cases of TAPVC fetuses diagnosed by prenatal echocardiography and managed with integrated perinatal care in Qingdao Women and Children's Hospital from January 2017 to December 2021 were retrospectively analyzed. Integrated perinatal care included multidisciplinary collaboration among obstetrics, fetal medicine, ultrasound, pediatric cardiology, pediatric anesthesia, and neonatology.@*RESULTS@#Among the 64 TAPVC fetuses, there were 29 cases of supracardiac type, 27 cases of intracardiac type, 2 cases of infracardiac type, and 6 cases of mixed type. Chromosomal analysis was performed in 42 cases, and no obvious abnormalities were found. Among the 64 TAPVC fetuses, 37 were induced labor, and 27 were followed up until term birth. Among the 27 TAPVC cases, 2 cases accepted palliative care, 2 cases were referred to another hospital for treatment and lost to follow-up, while the remaining 23 cases underwent primary repair surgery. One case died within 6 months after the operation due to low cardiac output syndrome, while the other 22 cases were followed up for (2.1±0.3) years with good outcomes (2 cases underwent a second surgery within 1 year after the first operation due to anastomotic stenosis or pulmonary vein stenosis).@*CONCLUSIONS@#TAPVC fetuses can achieve good outcomes with integrated management during the perinatal period.

Joint effects of meteorological factors and PM2.5 on age-related macular degeneration: a national cross-sectional study in China

BACKGROUND@#Weather conditions are a possible contributing factor to age-related macular degeneration (AMD), a leading cause of irreversible loss of vision. The present study evaluated the joint effects of meteorological factors and fine particulate matter (PM2.5) on AMD.@*METHODS@#Data was extracted from a national cross-sectional survey conducted across 10 provinces in rural China. A total of 36,081 participants aged 40 and older were recruited. AMD was diagnosed clinically by slit-lamp ophthalmoscopy, fundus photography, and spectral domain optical coherence tomography (OCT). Meteorological data were calculated by European Centre for Medium-Range Weather Forecasts (ECMWF) reanalysis and were matched to participants' home addresses by latitude and longitude. Participants' individual PM2.5 exposure concentrations were calculated by a satellite-based model at a 1-km resolution level. Multivariable-adjusted logistic regression models paired with interaction analysis were performed to investigate the joint effects of meteorological factors and PM2.5 on AMD.@*RESULTS@#The prevalence of AMD in the study population was 2.6% (95% CI 2.42-2.76%). The average annual PM2.5 level during the study period was 63.1 ± 15.3 µg/m3. A significant positive association was detected between AMD and PM2.5 level, temperature (T), and relative humidity (RH), in both the independent and the combined effect models. For PM2.5, compared with the lowest quartile, the odds ratios (ORs) with 95% confidence intervals (CIs) across increasing quartiles were 0.828 (0.674,1.018), 1.105 (0.799,1.528), and 2.602 (1.516,4.468). Positive associations were observed between AMD and temperature, with ORs (95% CI) of 1.625 (1.059,2.494), 1.619 (1.026,2.553), and 3.276 (1.841,5.830), across increasing quartiles. In the interaction analysis, the estimated relative excess risk due to interaction (RERI) and the attributable proportion (AP) for combined atmospheric pressure and PM2.5 was 0.864 (0.586,1.141) and 1.180 (0.768,1.592), respectively, indicating a synergistic effect between PM2.5 and atmospheric pressure.@*CONCLUSIONS@#This study is among the first to characterize the coordinated effects of meteorological factors and PM2.5 on AMD. The findings warrant further investigation to elucidate the relationship between ambient environment and AMD.

Risk factor assessment and adverse outcome prediction of placenta accreta in pregnant women after cesarean section complicated with placenta previa: a national multicenter retrospective study / 中华妇产科杂志

Objective:To study the risk factors of adverse pregnancy outcomes for the diagnosis and treatment of pregnancy after cesarean section complicated with placenta previa.Methods:A national multicenter retrospective study was conducted to select a total of 747 pregnant women with the third trimester singleton pregnancy after cesarean section complicated with placenta previa from 12 tertiary hospitals in January 1st to December 31st, 2018. The risk factors of severe adverse outcomes [hysterectomy, intraoperative blood loss ≥1 000 ml, intraoperative diagnosis of placenta accreta spectrum disorders (PAS)] in pregnant women with second pregnancy complicated with placenta previa after cesarean section were investigated by logistic regression analysis. The roles of prenatal ultrasonography and magnetic resonance imaging (MRI) in the prediction of PAS and severe adverse outcomes were observed. According to whether vascular intervention was performed (uterine artery embolization or abdominal aortic balloon occlusion), the pregnant women were divided into the blocked group and the unblocked group, and the maternal and infant perinatal outcomes between the two groups were compared.Results:(1) General information: the hysterectomy rate of 747 pregnant women with second pregnancy complicated with placenta previa after cesarean section was 10.4% (78/747), the intraoperative blood loss ≥1 000 ml in 55.8% (417/747), and PAS was confirmed in 47.5% (355/747). The incidence of uterine rupture was 0.8% (6/747). (2) Analysis of risk factors for severe adverse outcomes: based on binary unconditioned logistic regression univariate and multivariate analysis, the risk factors for hysterectomy were the mode of vascular embolization and intraoperative blood loss. The probability of hysterectomy with uterine artery embolization was 5.319 times higher than that with abdominal aortic balloon occlusion (95% CI: 1.346-21.018). The risk factors of intraoperative blood loss ≥1 000 ml were the number of cesarean section delivery, ultrasonography indicated PAS and suspected PAS, intraoperative PAS and complete placenta previa. The risk factors for intraoperative PAS were uterine scar thickness, ultrasonography indicated PAS and suspected PAS, MRI indicated PAS and suspected PAS, and complete placenta previa. (3) The roles of ultrasonography and MRI in predicting PAS: the sensitivity and specificity of ultrasonography in predicting PAS were 47.5% and 88.4%; the kappa value was 0.279 ( P<0.001), with fair agreement. The sensitivity and specificity of MRI to predict PAS were 79.2% and 97.8%, respectively. The kappa value was 0.702 ( P<0.001), indicating a good agreement. The intraoperative blood loss and hysterectomy rate of pregnant women with PAS indicated by ultrasonography and MRI were significantly higher than those with PAS only by ultrasonography or MRI. (4) Influence of vascular occlusion on pregnancy outcome: there were no significant differences in intraoperative blood loss and incidence of intraoperative bleeding ≥1 000 ml between the blocked group and the unblocked group (all P>0.05). There was no significant difference in intraoperative blood loss between the pregnant women with abdominal aortic balloon occlusion, uterine artery embolization and those without occlusion ( P=0.409). The hysterectomy rate of pregnant women with uterine artery embolization was significantly higher than those with abdominal aortic balloon occlusion [39.3% (22/56) vs 10.0% (5/50), P=0.001]. Conclusions:In the third trimester of pregnancy with placenta previa after cesarean section, MRI examination has better consistency in predicting PAS than ultrasonography examination. Ultrasonography examination combined with MRI examination could effectively predict the hysterectomy rate and intraoperative blood loss. Vascular occlusion could not reduce the amount of intraoperative blood loss. The hysterectomy rate of pregnant women with uterine artery embolization is higher than those with abdominal aortic balloon occlusion.

Clinical features of acute megakaryocytic leukemia in children: analysis of 14 cases / 白血病·淋巴瘤

Objective:To investigate the clinical features of acute megakaryocytic leukemia (AMKL) in children.Methods:The clinical data of 14 children with AMKL in Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from January 2012 to July 2021 were retrospectively analyzed, and the related literature was reviewed.Results:Among 14 children with AMKL, there were 5 males and 9 females, and the median age of onset was 19 months (0.1-109 months); 1 case was Down syndrome-related AMKL, and 13 cases were non-Down syndrome-related AMKL. Most of the children presented with fever, anemia or bleeding symptoms, and a few patients presented with joint pain as the primary symptom. Some children were accompanied by extramedullary infiltration such as hepatomegaly, splenomegaly or lymphadenovarix. Initial investigations of 14 children showed that the median white blood count, hemoglobin concentration and platelet count were 10.67×10 9/L [(6.56-83.62)×10 9/L], 84 g/L (55-121 g/L), 37×10 9/L [(8-1443) ×10 9/L], respectively, and the median proportion of naive cells in peripheral blood was 0.09 (0.00-0.79). Bone marrow smear showed that the primitive megakaryocytes were characterized by various size and irregular form, a few of which had cytoplasmic vacuoles, and the median proportion of bone marrow primitive megakaryocytes was 0.636 (0.332-0.976); the nuclei were round or irregular, with multiple nucleoli or hidden nucleoli. RAS staining was partially positive, and immunohistochemical assay showed that POX, AS-DNCE and α-NBE were negative. Detection of megakaryocyte-associated antigens by flow cytometry showed 12 children expressed CD41a or CD61, and 10 children expressed CD42b. Among 3 children who completed chemotherapy, 1 case of Down syndrome-related AMKL and 1 case of non-Down syndrome-related AMKL were event-free survival, and 1 case of non-Down syndrome-related AMKL died after bone marrow relapse. Conclusions:The clinical manifestations and biological characteristics of children with AMKL are complicated and the prognosis is poor. Some children can achieve disease-free survival through chemotherapy alone.

Influencing factors of delayed elimination of methotrexate in children with acute lymphoblastic leukemia treated by high-dose methotrexate and their prognostic analysis / 白血病·淋巴瘤

Objective:To investigate the influencing factors of delayed methotrexate (MTX) elimination after high-dose methotrexate (HD-MTX) treatment in children with acute lymphoblastic leukemia (ALL) and the effects of delayed MTX elimination and HD-MTX reduction on the prognosis of children with ALL.Methods:The clinical data of 242 children with ALL diagnosed and treated in Tongji Hospital of Tongji Medical College of Huazhong University of Science and Technology from January 2015 to June 2020 in accordance with the Chinese Children's Cancer Group study ALL 2015 (CCCG-ALL 2015) were retrospectively analyzed. Low risk and intermediate/high risk children respectively received 3 g/m 2 and 5 g/m 2 HD-MTX for 4 times, and the serum MTX concentration was monitored. The serum MTX concentration > 1 μmol/L at 44 h of administration was considered as the delayed elimination, which was divided into mild (> 1 μmol/L and ≤ 5 μmol/L), moderate (> 5 μmol/L and ≤ 10 μmol/L) and severe (> 10 μmol/L) delayed elimination. Univariate and multivariate logistic regression analysis were used to analyze the influencing factors of delayed MTX elimination, and univariate Cox proportional hazards model was used to analyze the related factors of ALL relapse. Results:The 242 children with ALL completed 962 times of HD-MTX chemotherapy. The median serum MTX concentration [ M ( Q1, Q3)] at 44 h of administration was 0.45 μmol/L (0.33 μmol/L, 0.72 μmol/L). The total incidence of delayed MTX elimination was 17.7% (170/962). The incidence of mild, moderate and severe delayed elimination was 13.8% (133/962), 2.6% (25/962) and 1.2% (12/962), respectively. Logistic regression analysis showed that age ≥ 7 years old ( OR = 1.68, 95% CI 1.17-2.41, P = 0.005), MTX dose >3 g/m 2 at each course ( OR = 2.14, 95% CI 1.52-3.03, P < 0.001) and the first course of HD-MTX chemotherapy ( OR = 2.05, 95% CI 1.43-2.93, P < 0.001) were independent risk factors for delayed MTX elimination. The median follow-up time was 50 months (34 months, 68 months), 12.8% (31/242) of the children relapsed, and the median relapse time was 30 months (30 months, 39 months). Univariate Cox regression analysis showed that there were no significant differences in the relapse rates among children with different gender, immunophenotype, risk, the number of delayed MTX elimination, and the completion of HD-MTX chemotherapy (the ratio of MTX average dose to initial planned dose) (all P > 0.05). Conclusions:The independent risk factors of delayed elimination of MTX in children with ALL are age ≥ 7 years old, MTX dose > 3 g/m 2 at each course and the first course of HD-MTX chemotherapy. Delayed elimination of MTX and reduction of HD-MTX have no significant effect on ALL relapse.

Analysis of a patient with severe Hemophilia A due to a large duplication of F8 gene / 中华医学遗传学杂志

OBJECTIVE@#To report on a case with severe hemophilia A (HA) due to a large duplication of F8 gene.@*METHODS@#Inversion detection, Sanger sequencing, and multiplex ligation-dependent probe amplification (MLPA) were used to detect the mutation in the proband and his mother.@*RESULTS@#The patient, a 7-year-old boy, was diagnosed with severe HA at 8 months. No inhibitor was developed over 150 exposure days. Intronic inversion detection and Sanger sequencing have failed to identify pathogenic variants, while MLPA revealed a large duplication [Ex 1_22 dup (2 copies)] in the proband, for which his mother was a carrier [Ex 1_22 dup (3 copies)]. Large duplications of the F8 gene have so far been found in 24 HA patients, all of whom had a severe phenotype, only one had a history of inhibitors.@*CONCLUSION@#Large duplications of F8 gene are associated with severe HA. The diagnostic rate for HA may be increased by MLPA.

Incidence of unintended pregnancy within 2 years after delivery and its influencing factors in China / 中华妇产科杂志

Objective:To investigate the present situation of unintended pregnancy within two years postpartum and its influencing factors in China.Methods:Participants who delivered a live birth at 60 hospitals in 15 provinces in the eastern, central and western regions of China during July 2015 to June 2016 were interviewed by using structured questionnaire. Information on occurrence of unintended pregnancy within 2 years after delivery, postpartum contraceptive use, sexual resumption, breastfeeding, and women′s socio-demographic characteristics, and so on, were collected. Life-table analysis, cluster log-rank tests and a 2-level Cox regression model were used for data analysis.Results:A total of 18 045 postpartum women were investigated. The cumulative 1- and 2-year unintended pregnancy rates after delivery were 5.3% (95% CI: 4.5%－6.1%) and 13.1% (95% CI: 11.3%－14.8%), respectively. Cox regression model analysis showed that the risk of unintended pregnancy within 2 years postpartum were increased in younger women, ethnic minorities, women with abortion history, and those who had a vaginal delivery with short lactation time and late postpartum contraceptive initiation (all P<0.01). The risk of postpartum unintended pregnancy was not associated with geographic regions and hospitals where women gave a birth (all P>0.05). Conclusions:In China, the risk of unintended pregnancy within 2 years after delivery is relatively high. Service institutions and service providers should improve the quality of postpartum family planning services, promote the use of high effect contraceptive methods, and educate women to use a method at the time of their sexual resumption or even before.

Evaluation of the diagnosis and treatment of cesarean scar pregnancy induced in the second trimester: a national multicenter retrospective study / 中华妇产科杂志

Objective:To study the risk factors of adverse pregnancy outcomes for induced abortion of cesarean scar pregnancy in midtrimester.Methods:A national multicenter retrospective study was conducted. A total of 154 singletons pregnant women with cesarean scar pregnancy during the second trimester induced abortion by various reasons in 12 tertiary A hospitals were selected, their pregnant outcomes were observed and the risk factors of serious adverse outcomes were analyzed with univariate and multivariate logstic regression; the role of ultrasound and MRI in predicting placenta accreta and severe adverse outcomes was evaluated, the effectiveness of uterine artery embolization (UAE) in preventing hemorrhage in pregnant women with and without placenta accreta was compared.Results:Among 154 subjects, the rate of placenta accreta was 42.2% (65/154), the rate of postpartum hemorrhage≥1 000 ml was 39.0% (60/154), the rate of hysterectomy was 14.9% (23/154), the rate of uterine rupture was 0.6% (1/154). The risk factor of postpartum hemorrhage≥1 000 ml and hysterectomy was placenta accreta ( P<0.01). For each increase in the number of parity, the risk of placenta accreta increased 2.385 times (95% CI: 1.046-5.439; P=0.039); and the risk of placenta accreta decreased with increasing ultrasound measurement of scar myometrium thickness ( OR=0.033, 95% CI: 0.001-0.762; P=0.033). The amount of postpartum hemorrhage and hysterectomy rate in the group with placenta accreta diagnosed by ultrasound combined with MRI were not significantly different from those in the group with placenta accreta diagnosed by ultrasound only or MRI only (all P>0.05). For pregnant women with placenta accreta, there were no significant difference in the amount of bleeding and hysterectomy rate between the UAE group [median: 1 300 ml; 34% (16/47)] and the non-embolization group (all P>0.05); in pregnant women without placenta accreta, the amount of bleeding in the UAE group was lower than that in the non-embolization group (median: 100 vs 600 ml; P<0.01), but there was no significant difference in hysterectomy rate [2% (1/56) vs 9% (3/33); P>0.05]. Conclusions:(1) Placenta accreta is the only risk factor of postpartum hemorrhage≥1 000 ml with hysterectomy for induced abortion of cesarean scar pregnancy in midtrimester; multi-parity and ultrasound measurement of scar myometrium thickness are risk factors for placenta accreta. (2) The technique of using ultrasound and MRI in predicting placenta accreta of cesarean scar pregnancy needs to be improved. (3) It is necessary to discuss of UAE in preventing postpartum hemorrhage for induced abortion of cesarean scar pregnancy in midtrimester.

Genetic polymorphisms of 21 non-combined of DNA index system short tandem repeat loci in Hainan Li population / 中华医学遗传学杂志

OBJECTIVE@#To investigate the genetic polymorphisms of 21 non-combined DNA index system short tandem repeat (STR) loci in Hainan Li population.@*METHODS@#DNA samples from 339 unrelated healthy individuals of Li population from Hainan Province were extracted and amplified with fluorescence labeled multiplex PCR system. PCR products were electrophoresed on an ABI3130 Genetic Analyzer following the manufacturer's instructions. Allele designation was performed with a GeneMapper ID-X by comparison with the allele ladder provided by the corresponding kit.@*RESULTS@#A total of 173 alleles and 489 genotypes were observed for the 21 STR loci, respectively. The frequencies of alleles and genotypes were 0.0010-0.5434 and 0.0020-0.3274, respectively. The heterozygosity varied from 0.639 to 0.833. Discrimination power (DP) was 0.803-0.948, power of exclusion for trio-paternity was 0.416-0.584, power of exclusion for duo-paternity was 0.140-0.238, the polymorphism information content(PIC) was 0.57-0.81, respectively. The total discrimination power (TDP), cumulative probability of exclusion for trio-paternity testing(CPE-trio) and cumulative probability of exclusion for duo-paternity testing (CPE-duo) were 0.999 999 999 999 99, 0.999 999 883 211 752, and 0.987 266, respectively.@*CONCLUSION@#The 21 STR loci are highly polymorphic and informative in the studied population and can be employed as supplementary loci in duo-paternity testing or cases with variant circumstances.

Clinical characteristics and prognosis of childhood acute lymphoblastic leukemia complicated with EB virus infection / 白血病·淋巴瘤

Objective:To explore the clinical features and prognosis of childhood acute lymphoblastic leukemia(ALL) complicated with EB virus (EBV) infection.Methods:The results of detection of EBV antibody and EBV-DNA in peripheral blood mononuclear cells of 196 children with ALL diagnosed in Tongji Hospital Affiliated to Tongji Medical College of Huazhong University of Science and Technology from January 2015 to January 2019 were collected. According to the results, 196 children with ALL were divided into EBV infection group and non-EBV infection group. The hepatomegaly and splenomegaly, chromosome, peripheral blood routine, immunophenotyping, clinical risk, secondary infection during chemotherapy, minimal residual disease (MRD) of day 46 after chemotherapy, karyotype, and prognosis were compared between the two groups. The children were followed up until April 30, 2019.Results:Among 196 children with ALL, EBV infection rate was 72.96% (143/196). The EBV-DNA level [median ( P25, P75)] of peripheral blood mononuclear cells was 3.7×10 3 copies/L(1.6×10 3 copies/L, 8.8×10 3 copies/L). The incidence of hepatosplenomegaly (subcostal ≥ 5 cm) in EBV infection group was higher than that in non-EBV infected group [14.69% (21/143) vs. 3.77% (2/53), χ 2= 4.45, P= 0.035]. There was no significant difference in the number of white blood cells and the incidence of abnormal karyotype between EBV infection group and non-EBV infection group (both P > 0.05). The secondary infection rate in EBV infection group was higher than that in the non-EBV infection group [41.96% (60/143) vs.24.53% (13/53), χ2= 5.03, P= 0.025], and the remission rate of day 46 in EBV-infection group was lower than that in non-EBV infection group [80.42% (115/143) vs. 98.11% (52/53), χ2= 9.60, P= 0.020]. The recurrence rate in EBV-infection group was higher than that in non-EBV infectious group [11.89% (17/143) vs. 1.89% (1/53), χ2= 4.64, P= 0.031], and there was a significant difference in the component ratio of immunophenotyping and clinical risk between the two groups (both P < 0.05). Conclusions:The hepatosplenomegaly in children with ALL complicated with EBV infection is obvious, the secondary infection rate is high, the remission rate is low, the recurrence rate is high, and the prognosis is poor. EBV infection may be related to immunophenotyping and clinical risk in children with ALL, and has nothing to do with the abnormal karyotypes.

Exploration of academic ideas on pricking blood therapy of / 中国针灸

Through in-depth excavation and analysis of the pricking blood therapy mentioned in , it is found that -'s pricking blood theory is mainly derived from . Innovative development has been carried out on the basis of "brave innovation and careful verification", and at the same time, it has been practiced and summarized clinically to form its own unique pricking blood therapy. This article systematically summarizes formation of the theory, clinical application, characteristics, and influence on later generations of pricking blood therapy in , with a view to inspiring scholars to have a more comprehensive understanding on the pricking blood therapy in , and providing new ideas and reference for clinical application.

Molecular epidemiology of Listeria monocytogenes isolated from ready-to-eat food in 2017 in China / 中华预防医学杂志

To analyze the molecular characteristics of strains from ready-to eat food in China. A total of 239 strains isolated from ready-to-eat food in 2017, all strains underwent whole-genome sequencing (WGS) , and comparisons uncovered population structure derived from lineages, clonal complex, serogroups, antimicrobial susceptibility and virulence, which were inferred in silico from the WGS data. Core genome multilocus sequence typing was used to subtype isolates. All strains were categorized into three different lineages, lineage Ⅱ was the predominant types in food, and IIa was the main serogroups. CC8, CC101 and CC87 were the first three prevalent CCs among 23 detected CCs, accounting for 49.4%. Only 4.6% (11 isolates) of tested strains harbored antibiotic resistance genes, which were mostly trimethoprim genes (7 isolates, 2.9%). All strains were positive for LIPI-1, and only a part of strains harbored LIPI-3 and LIPI-4, accounting for 13.8% (33 isolates) and 14.2% (34 isolates), respectively. ST619 carried both LIPI-3 and LIPI-4. 51.5% (123 isolates) of strains carried SSI-1, and all CC121 strains harbored SSI-2. Different lineages, serogroups and CCs can be separated obviously through cgMLST analysis, and 24 sublineages were highly concordant with CCs. Ⅱa was the main serogroups in ready-to-eat food isolates in China; CC8, CC101 and CC87 were the prevalent CCs, and CC87 isolates was hypervirulent isolates, cgMLST method can be adopted for prospective foodborne disease surveillance and outbreaks detection.

Research progress of microRNA in the pathogenesis of bronchopulmonary dysplasia / 中国小儿急救医学

Bronchopulmonary dysplasia is one of the common complications related to premature infants. It is one of the main causes of disability or death in premature infants. There is still lack of specific prevention and treatment measures. In recent years, molecular biology studies have found that micro-RNA plays an important role in the occurrence and development of bronchopulmonary dysplasia. In this paper,the research of micro-RNA in the pathogenesis of bronchopulmonary dysplasia is reviewed,and the theoretical basis is laid for the search for new diagnosis and treatment methods.

Sequencing of a large off-ladder allele at Penta E locus / 中华医学遗传学杂志

OBJECTIVE@#To identify a rare large off ladder (OL) allele at the Penta E locus.@*METHODS@#Chelex-100 was used to extract DNAs from the blood samples. The PCR fragments were purified, extracted, and subjected to TA cloning and sequencing.@*RESULTS@#An OL allele was identified by the PowerPlex™ 21 at the Penta E locus, which was postulated as allele 26 based on assigned size. The OL allele was verified as a novel fragment containing 26 full AAAGA repeats.@*CONCLUSION@#OL alleles and microvariants should be verified by direct sequencing. Typing of OL alleles has significance for both daily work and forensic genetics.

Genetic polymorphisms of 23 autosomal short tandem repeat loci among ethnic Han Chinese from southern China / 中华医学遗传学杂志

OBJECTIVE@#To study genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci among ethnic Han Chinese from southern China.@*METHODS@#The 23 autosomal STR loci among 331 unrelated healthy Han Chinese from southern China were genotyped with fluorescent multiplex amplification and capillary electrophoresis. Genetic parameters were subjected to statistical analysis.@*RESULTS@#In total 265 alleles and 890 genotypes were detected for the 23 STR loci. The numbers of alleles were 5-22, allelic frequency was 0.0015-0.5483, heterozygosity was 0.5891-0.9124, power of discrimination was 0.7818-0.9831, polymorphic information content was 0.5425-0.9031, probability of exclusion for trio-paternity testing was 0.2780-0.8208, and probability of exclusion for duo-paternity testing was 0.193-0.693. The combined power of discrimination was over 0.999 999 999 999 99, the combined probability of exclusion for trio-paternity identification was 0.999 999 999 729 813, and the combined probability of exclusion for duo-paternity identification was 0.999 999 207 508 474, respectively. The 23 STR loci showed no significant deviation from Hardy-Weinberg disequilibrium after Bonferroni correction (P> 0.05).@*CONCLUSION@#The 23 autosomal STR loci were highly polymorphic among ethnic Han Chinese from southern China, which showed a high efficiency for paternity testing, personal identification and population genetics.

Detection of IL-35-expressing monocytes in mice infected with BCG and its clinical significance / 中国免疫学杂志

Objective:To detect IL-35 in mononuclear cells of peripheral blood and lung tissue with BCG infected mouse,and to analyze its effect on the tuberculosis immune mechanism and pathology.Methods: Mycobacterium tuberculosis infecting animal model was made by BCG injection in wild type C57BL/6 mouse.Then,mice were sacrificed in different time points.The peripheral blood and lung tissue were isolated.The bacterial load and histopathological analysis in lung tissue were performed,and the expression of IL-35 subunits P35 and EBI3 in monocytes were detected by flow cytometry.Furthermore,the correlation of IL-35-expressing monocytes with the load of bacterium was analyzed.Results:The expression of P35 and EBI3 in monocytes in peripheral blood and lung tissue of BCG-infected mice was significantly higher than that of the control group,and the peripheral blood of the experimental group was significantly increased at 4 weeks after infection.The expression of EBI3 in lung tissue diaplayed significant rising trend.The correlation analysis showed that the P35 expression was positively correlated with the expression of EBI3 in monocyte,and the IL-35-ex-pressing monocyte in lung tissue was negatively correlated with the load of bacteria.The IL-35-expressing monocyte in peripheral blood and lungs increased significantly at 2-week and 4-week,while it increased in lung tissue at 8 week,significantly.Conclusion: BCG-infects mouse monocytes with high expression of IL-35,it may participate in anti-tuberculosis immune regulation.

A qualitative study of caregivers of patients with esophageal cancer on nutritional care / 中国实用护理杂志

Objective To understand caregivers concerning on the nutritional status of patients with esophageal cancer after operation and to provide reference for esophageal cancer patients with postoperative rehabilitation guidance, to help nurses providing targeted health education for esophageal cancer patients. Methods A phenomenological approach was used to conduct unstructured interviews with 8 caregivers of patients with esophageal cancer in the cancer hospital.Data Data were analyzed by Colaizzi's phenomenological procedure. Results Through reading, analysis, reflection, classification and extraction,there were 3 themes: lacking of esophageal cancer related nutrition knowledge, but the belief of active acquisition is strong and behavior compliance is poor. Caregivers are positive about dietary nutrition;Caregivers have poor compliance and professionalism on behavior of dietetic care. Conclusions Doctors and nurses need to carry out elaborate diet instruction for caregivers of patients with esophageal cancer, to meet their nutritional knowledge needs, to provide a variety of effective and authoritative counseling channels, and to supervise their care behavior and promote patients rehabilitation as soon as possible.

Clinical features and prognostic analysis of 36 children with relapsed acute lymphoblastic leukemia / 中华实用儿科临床杂志

Objective To study the clinical features and prognostic analysis of 36 children with relapsed acute lymphoblastic leukemia(ALL)treated with the ALL 2006 protocol.Methods The data of 308 children who were new-ly diagnosed as ALL at the Department of Pediatric Hematology,Tongji Hospital,Tongji Medical College,Huazhong Uni-versity of Science Technology treated with the ALL 2006 protocol between January 2007 and December 2012 were col-lected,and the clinical features and prognosis of 36 children with relapsed ALL were retrospectively analyzed.The date included initial treatment time,age,gender,immunophenotyping,the white blood cell count,the risk classification,the chromosome,the fusion gene(29 kinds of fusion genes including MLL rearrangement,BCR/ABL,E2A/PBX1,TEL/AML1)in relapsed patients with ALL on the initial diagnosis and recurrence time,recurrence site,as well as whether to get second complete remission(CR2),follow-up time,follow-up deadline condition.Results After treatment with ALL 2006 protocol,the recurrence rate was 11.7%(36/308 cases);the 3 years overall survival rate was(38.0 ± 9.0)%.The recurrence happened almost in the very early stage,about 75.0%(27/36 cases),and the recurrence rate of the early stage and the late stage patients was 16.7%(16/36 cases)and 8.3%(3/36 cases),respectively.The re-lapsed sites were mainly in the bone marrow alone(66.7%,24/36 cases),and the extramedullary recurrence and the combination of bone marrow with extramedullary recurrence was 16.7%(6/36 cases).The 3-year OS was(16.4 ± 8.0)% and(80.0 ± 18.0)% for those relapsed in the very early stage and early stage,respectively(P=0.002).The 3-year OS of the high-risk,medium-risk relapsed patients were(21.0 ± 11.0)%,(51.9 ± 16.0)% and(64.3 ± 21.0)%(P=0.022).Conclusions After the treatment with ALL 2006 protocol,the patients with recurrence were almost at the very early stage.The relapsed sites were mainly in bone marrow alone.The factor associated with survival time of children with relapsed ALL is the relapse at the very early stage.

Study on phenotypic screening and molecular genetics of rare blood type Jk(a-b-) in donors of Fujian province / 临床检验杂志

Objective To investigate the frequency of Jk(a-b-) phenotype of Kidd blood type system in blood donors of Fujian province and its genetic characteristics.Methods The Jk (a-b-) phenotype in the blood samples obtained from 180 626 donors were screened by using urea lysis assay and the suspected Jk(a-b-) pbenotype individuals were confirmed using conventional serological method.The genomic DNA covering the sequence from exon 1 to exon 11 of JK gene and respective flanking area(50-150 bp),as well as the promoter were amplified by polymerase chain reaction,and the products of PCR were directly sequenced.The genotypes of 7 SNPs of JK gene in the blood samples from 200 blood donors of Fujian province were detected by SNaPshot assay.Results Of 180 626 blood donors,15 cases with Jk(a-b-) phenotype were identified.The genomic analysis for the 15 cases revealed the four recessive JK-null alleles,i.e.,JK*B(IVS5-1G＞A),JK*B(896G＞A),JK*A(130G＞A,220A ＞G) and JK* B(130G ＞A,956C ＞ T) were observed with frequency of 66.67％,23.33％,6.67％ and 3.33％,respectively.SNaPshot results showed the frequency of JK * B (IVS5-1 G ＞ A) was 0.75 ％ and G130A was the common polymorphism.No A220G,C222T,C956T and G896A mutation was found in the 200 blood donors.Conclusion The frequency of Jk (a-b-) blood type in the donors of Fujian population was estimated about 0.008％.JK * B(IVS5-1G ＞ A) and JK * B(896G ＞ A) alleles may be the predominate circulating genes in Fujian population with Jk (a-b-) phenotype.Direct DNA sequencing revealed a novel allele leading to JK-null,SLC14A1 130A,220G.