Objective To investigate the change of peripheral blood CD4+CD25+ regulatory T cells (Tr) in patients with idiopathic thrombocytopenic purpura (ITP), and to analyze its role in the pathogenesis of ITP.Methods Anticoagulated venous blood was collected from ITP patients (ITP group,n=35) and healthy controls (healthy control group,n=35). T lymphocytes were isolated and purified with human CD3+ T cell enrichment columm. The percentage of peripheral blood CD4+CD25+ regulatory T cells was detected by immunofluorescence staining (PE-anti-CD4 monoclone antibody and FITC-CD25 monoclone antibody) and bicolor flow cytometry by CD25/CD4 gating.Results The number and constituent ratio of CD4+CD25+T cell were significantly lower in ITP group than those of healthy control group (P<0.05).Conclusion There is peripheral blood celluar immunological function disorder in ITP patients, and decrease of CD4+CD25+ T cell population may be involved in the pathogenesis of ITP.

Objective To evaluate the value of echocardiography on the diagnosis of arrhythmogenic right ventricular cardiomyopathy (ARVC),and to improve the diagnositic accuracy of ARVC by echocardiography.Methods According to the 2010 European Heart Association guideline,twenty-one patients with ARVC were diagnosed from September 2003 to June 2014.The patients were divided into four groups (confirmed,suspiciously diagnosis,miss diagonisis,misdiagnosis) and the echocardiographic features were retrospectively analyzed including the right ventricular (RV) movement,the diameter of RV outflow tract (RVOTd),fractional area change of RV (RVFAC),the severity of tricuspid regurgitation (TR) and peak pulmonary artery systolic pressure (PASP).Results Of 21 patients,15 (71.4％) were confirmed by echocardiography,which had the typical ARVC echocardiographic features including the hypokinetic,akinetic or aneurysm of RV,dilation of RVOTd [mean RVOTd (40 ± 3)mm],and RV FAC＜33 ％ [mean (21 ± 7)％].TR were noticed in all the 15 patients but the PASP were normal [mean (27 ± 9)mmHg,1 mmHg =0.133 kPa].Three (14.3％) were suspiciously diagnosed which had the RV wall hypoakinetic,1 with pure RVOTd dilation and 2 with RV and RVOTd dilation,all 3 patients had mild TR,33％＜RVFAC ≤40％ and PASP were in normal range.Two patients had normal echocardiography which was miss diagnosed,one patient was misdiagnosed as dilated cardiomyopathy.Conclusions The different stages of ARVC patients had different echocardiographic features,the patients were easily diagnosed when the ARVC patients in RV failure stage.But for the early and late stage,the diagnosis should combine the clinical manifestation and other imaging facilities to avoid miss diagnosis and misdiagnosis.

As a physical method, electromagnetic therapy has been widely used in clinical treatment of various human diseases. In this paper, a total of 123 research papers related to the clinical application of electromagnetic therapy were retrieved from the Chinese Journal Full-text Database also known as China National Knowledge Infrastructure (CNKI), WANFANG Database, Chinese Science and Technology Journal Database (CSTJ), PubMed, Europe PMC, etc. All papers were analyzed and evaluated, and 58 effective articles were selected. The clinical application and therapeutic effects of electromagnetic therapy on several diseases were reviewed, including hypertension, diabetes, insomnia, depression and osteoporosis. The categories of commonly used electromagnetic therapy were sorted out and summarized, including magnetization at acupoints, pulsed electromagnetic fields, gyromagnetic, repetitive transcranial magnetic stimulation, and wearing magnetic items. The results show that electromagnetic therapy has a wide range of applications and small side effects, it has significant effects on some medical diseases, neurological diseases, and orthopedic diseases.

Objective To summarize the characteristics of two‐dimensional ( 2D ) ultrasound , spatiotemporal imaging correlation ( ST IC ) and vascular casting of fetal inferior vena cava ( IVC ) malformations ,analyze the clinical characteristics and the prognosis of fetal IVC malformations ,and explore the early diagnostic value of fetal echocardiography for fetal IVC malformations . Methods Sixty‐one cases of fetal IVC malformation diagnosed by fetal echocardiography in Beijing Anzhen Hospital M aternal Fetal M edical Consultation Center were retrospectively analyzed . T he clinical data ,echocardiographic features , genetic testing information and prognosis were summarized . Results ① In the 61 cases of IVC malformation ,there were 51 cases of absence of IVC ,46 cases of absence of liver segment ,5 cases of absence of left IVC hepatic segment ,9 cases of left IVC ( including 5 cases of left IVC and absence of IVC hepatic segment) ,5 cases of double IVC ,and 1 case of right hepatic vein reflux . ② Ten fetuses of the 61 fetuses were simple IVC deformity without any other malformations . O ther venous malformations included 7 cases of absence of right superior vena cava and persistent left superior venacava , 2 cases of absence of venous catheters ,and 3 cases of persistent right umbilical vein ,2 cases were merged alone ; 49 cases were merged with intracardiac structural malformations and arrhythmia . ③ T hirty‐eight pregnant women underwent Down′s screening or non‐invasive DNA ,all of which were at low risk .Four cases underwent amniocentesis , and no obviously abnormality was found . Sixteen cases underwent autopsy and genome sequencing after induced labor , one was single gene abnormalities ( ZFPM 2 classical mutation ) . ④ STIC images were collected in 20 cases ,and 19 cases were clearly visualized . ⑤Vascular cast was made to show the shape of blood vessel more clearly and stereoscopically in 4 cases of absent hepatic segment of IVC . ⑥Eleven fetuses were born and confirmed from the results of postnatal ultrasound ,w ho were healthy in follow‐up ; 16 fetuses were induced labor ; 33 fetuses were losed during follow‐up ; 1 fetus died after birth ( arrhythmia ) . Conclusions Fetal echocardiography combined with STIC technology can clearly diagnose the anomalies of IVC . Vascular casting can provide stereoscopic and visual manifestations of the anomalies of IVC . The prognosis of simple anomalies of IVC is good .

Objective:To investigate the value of post left atrium space index (PLASI) in the diagnosis of fetal isolated total anomalous pulmonary venous connection (TAPVC).Methods:Twenty-six cases of fetal isolated TAPVC were retrospectively analyzed as the TAPVC group and 243 normal fetuses were selected as the control group from October 2012 to April 2019 in the Consultation Center of Maternal-Fetus Medicine in Fetal Heart Disease in Beijing An Zhen Hospital. The width of the PLAS and the diameter of the descending aorta were measured in the four chamber view, and then the PLAS index (PLASI) (the width of the PLAS/the diameter of the descending aorta) was calculated. The relationships between the width of PLAS, the diameter of descending aorta and the PLASI and gestational age were analyzed. The difference of the PLASI between isolated TAPVC group and control group was analyzed, and ROC curve was used to analyze the sensitivity and specificity in identifying the isolated TAPVC fetuses and normal fetuses.Results:In the 243 normal fetuses in control group, both the width of the PLAS and the diameter of the descending aorta increased with gestational age ( r s=0.362, 0.648, P<0.05). There was no statistically significant correlation between the PLASI and gestational age ( r s=-0.065, P>0.05). The PLAS and the PLASI in isolated TAPVC group were all significantly higher than those in control group ( t=26.31, 34.90, P<0.01). Based on the ROC curve analysis, when the cutoff value was set to 3.6 mm, the sensitivity and specificity of PLAS in identifying isolated TAPVC and normal fetuses were 97.5% and 100%, respectively. When the cutoff value was set to 1.1, the sensitivity and specificity of PLASI in identifying isolated TAPVC and normal fetuses were 100% and 100%, respectively. Conclusions:The PLASI is a sensitive parameter in identifying the isolated TAPVC, which is helpful for the rapid screening of the isolated TAPVC.

OBJECTIVE: To detect fusion gene with pathological significance in a patient with refractory and relapsed acute B cell lymphoblastic leukemia (B-ALL) and to explore its laboratory and clinical characteristics. METHODS: Transcriptome sequencing was used to detect potential fusion transcripts. Other laboratory results and clinical data of the patient were also analyzed. RESULTS: The patient was found to harbor TCF3 exon 17-ZNF384 exon 7 in-frame fusion transcript. The minimal residual disease (MRD) has remained positive after multiple chemotherapy protocols including CD19-, CD22- targeted chimeric antigen receptor T cells immunotherapy. The patient eventually achieved complete remission and sustained MRD negativity after allogeneic hemopoietic stem cell transplantation (allo-HSCT). CONCLUSION Transcriptome sequencing can effectively detect potential fusion genes with clinical significance in leukemia. TCF3-ZNF384 positive B-ALL has unique laboratory and clinical characteristics, may not well respond to chemotherapy and immunotherapy, and is more likely to relapse. Timely allo-HSCT treatment may help such patients to achieve long-term disease-free survival. TCF3-ZNF384 positive B-ALL is not uncommon in pediatric patients but has not been effectively identified.
B-Lymphocytes ; Basic Helix-Loop-Helix Transcription Factors/genetics* ; Child ; Hematopoietic Stem Cell Transplantation ; Humans ; Laboratories ; Precursor Cell Lymphoblastic Leukemia-Lymphoma/therapy* ; Trans-Activators/genetics* ; Transcriptome

Objective:To investigate the molecular genetic and clinical characteristics of MEF2D-BCL9 fusion gene-positive acute B-cell lymphoblastic leukemia (B-ALL), and to provide the reference for the diagnosis and treatment of the disease.Methods:The medical record and experimental examination data of a 18-year-old female MEF2D-BCL9 fusion gene-positive B-ALL patient were retrospectively analyzed. The clinical manifestations and biological characteristics of MEF2D-BCL9 fusion gene-positive B-ALL were summarized.Results:This 18-year-old female patient was treated in a local hospital in December 2018 and was diagnosed as B-ALL. She achieved complete remission after chemotherapy and recurred at 6 months after the initial onset, and then she was admitted to Hebei Yanda Ludaopei Hospital in the 9 months after the initial onset.MEF2D-BCL9 fusion gene was detected through RNA-sequencing (RNA-seq) and verified by using polymerase chain reaction and Sanger sequencing. Bone marrow cell morphology was similar to mature B cells with vacuoles but without characteristic chromosome karyotype abnormalities. The patient achieved remission after VLD regimen chemotherapy, chimeric antigen receptor T-cell (CAR-T) therapy and bridged to allogeneic hematopoietic stem cell transplantation (allo-HSCT). She has maintained complete remission for 2 years at the last follow-up in February 2022.Conclusions:MEF2D-BCL9 fusion gene-positive B-ALL is characterized with high risk, early relapse and poor prognosis. These patients may benefit from CAR-T and allo-HSCT. It further emphasizes the importance of taking MEF2D-BCL9 fusion gene into the detection or identification by using RNA-seq, particularly for those newly diagnosed B-ALL patients in children and adolescents with specific bone marrow morphology.

This retrospective analysis aimed to investigate the mutation profile of 16 common mutated genes in de novo acute myeloid leukemia (AML) patients. A total of 259 patients who were diagnosed of de novo AML were enrolled in this study. Mutation profiling of 16 candidate genes were performed in bone marrow samples by using Sanger sequencing.We identified at least 1 mutation in 199 of the 259 samples (76.8%), and 2 or more mutations in 31.7% of samples. FLT3-ITD was the most common mutated gene (16.2%, 42/259), followed by CEBPA (15.1%, 39/259), NRAS (14.7%, 38/259), and NPM1 (13.5%, 35/259). Concurrence was observed in 97.1% of the NPM1 mutated cases and in 29.6% of the double mutated CEBPA cases. Distinct patterns of co-occurrence were observed for different hotspot mutations within the IDH2 gene: R140 mutations were associated with NPM1 and/or FLT3-ITD mutations, whereas R172 mutations co-occurred with DNMT3A mutations only. Concurrence was also observed in 86.6% of epigenetic regulation genes, most of which co-occurred with NPM1 mutations. The results showed certain rules in the mutation profiling and concurrence of AML patients, which was related to the function classification of genes. Defining the mutation spectrum and mutation pattern of AML will contribute to the comprehensive assessment of patients and identification of new therapeutic targets.
Adolescent ; Adult ; Aged ; CCAAT-Enhancer-Binding Proteins ; genetics ; Child ; Child, Preschool ; China ; DNA Mutational Analysis ; Female ; GTP Phosphohydrolases ; genetics ; Gene Expression Profiling ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Kaplan-Meier Estimate ; Leukemia, Myeloid, Acute ; genetics ; Male ; Membrane Proteins ; genetics ; Middle Aged ; Mutation ; Nuclear Proteins ; genetics ; Phenotype ; Retrospective Studies ; Young Adult ; fms-Like Tyrosine Kinase 3 ; genetics