Value of lymphocyte subsets in assessing the prognosis of adult hemophagocytic syndrome / 中华检验医学杂志

Objective:To explore the prognostic value of lymphocyte subsets in adult hemophagocytic syndrome (HPS).Methods:A total of 172 adult HPS patients diagnosed in 8 medical centers from January 2013 to August 2020 were selected for the study, of whom 87 were male (50.6%, 87/172), and 85 were female (49.4%, 85/172), with 68 survivors and 104 deaths. The clinical data were summarized, and variables such as lymphocyte subsets, immunoglobulin characteristics and fibrinogen were retrospectively analyzed, and the correlation between the mentioned variables and patient prognosis was analyzed. The optimal cut-off values of continuous variables were calculated by MaxStat, and the prognostic factors of HPS patients were screened based on the Cox proportional hazard regression model.Results:The median age of HPS patients was 56 (42, 66) years old, and the 5-year cumulative survival rate was 37.4% (37.4/100). The median age, platelet and albumin were 48 (27, 63) years, 84×10 9/L and 32.3 g/L in the survival group, and 59 years, 45.5×10 9/L, and 27.3 g/L in the death group, respectively. The differences between the two groups was statistically significant ( Z=?3.368, P=0.001; Z=?3.156, P=0.002; Z=?3.431, P=0.001). Patients with differentiated cluster 8+(CD8+)<11.1%, CD3+<64.9%, CD4+>51%, and CD4/CD8 ratio>2.18 had poor prognosis (χ 2=7.498, P=0.023; χ 2=4.169, P=0.041; χ 2=4.316, P=0.038; χ 2=9.372, P=0.002). Multivariable analysis showed that CD4/CD8 ratio, age, fibrinogen and hemoglobin were independent prognostic factors in HPS patients ( HR=2.435, P=0.027; HR=5.790, P<0.001; HR=0.432, P=0.018; HR=0.427, P=0.018). Conclusion:Peripheral blood lymphocyte subsets can be used to evaluate the prognosis of patients with HPS; CD4/CD8 ratio, age, fibrinogen, and hemoglobin are independent prognostic factors in HPS patients.

Effect of dietary intake before fasting on physiological distribution of 18F-FDG PET/CT imaging / 中华核医学与分子影像杂志

Objective:To explore the effect of dietary intake before fasting on the physiological distribution of 18F-FDG PET/CT, and to improve the 18F-FDG PET/CT image quality. Methods:From August 2019 to May 2020, questionnaire of dietary intake before fasting of 118 patients (73 males, 45 females; age (58.4±13.4) years) who performed PET/CT imaging in Zhongshan Hospital, Fudan University were retrospectively analyzed. The total dietary energy intake, the nutrient intake and energy supply ratio of the three energy source nutrients, the type of raw materials and the texture of diet were included. The SUV max and SUV mean of the liver, mediastinal blood pool and hip muscles were measured. Single-factor and multi-factors linear regression analyses were used to analyze data. Results:The fasting blood glucose of 118 subjects was (5.36±1.01) mmol/L. The texture of diet before fasting were general diet, semiliquid diet and liquid diet, which were 42 (35.59%), 72 (61.02%) and 4 (3.39%) subjects, respectively. The energy supply ratios of carbohydrate, protein and fat were (55.46±18.27)%, (16.70±7.38)% and (27.72±14.53)%, respectively. The results of multi-factors regression analysis indicted that protein energy ratio was an independent factor influencing SUV max ( β=0.005, P=0.031) and SUV mean ( β=0.003, P=0.042) of the hip muscles, and the texture of diet was an independent factor influencing SUV max ( β=0.126, P=0.030) and SUV mean ( β=0.197, P=0.002) of mediastinal blood pool. Conclusions:The dietary intake before fasting has significant effect on the imaging quality of 18F-FDG. The protein energy ratio is an independent factor influencing SUV max and SUV mean of the hip muscles. The texture of diet is an independent factor influencing SUV max and SUV mean of mediastinal blood pool.

A qualitative study on the information behavior motivation experience of pregnant women with gestational diabetes / 中国实用护理杂志

Objective:To explore the information behavior motivation of pregnant women with gestational diabetes and provide a basis for constructing an information behavior demand assessment system and health education strategies.Methods:Using the purpose sampling method, from December 2019 to February 2020, semi-structured interviews were conducted on 9 pregnant women with gestational diabetes and 11 pregnant women with gestational diabetes who were hospitalized in the obstetric outpatient department of our hospital, and used Colaizzi's 7-step analysis Methods classify and analyze the data, and extract themes.Results:The analysis extracted 6 themes, namely, information support in the whole process, information expectations, self-care information needs, information credibility, information judgment ability, and behavior change motivation.Conclusion:According to the motivation of information behavior change of pregnant women with gestational diabetes, appropriate educational methods are adopted to stimulate their effective information behavior practice, and targeted nursing care is provided for continuous health education needs.

Genotype and phenotype studies on fetuses of 22q11.2 deletion syndrome / 中华医学遗传学杂志

OBJECTIVE@#To study the genotype and phenotype of fetuses with 22q11.2 microdeletion and other abnormalities such as cardiac malformation and cleft palate.@*METHODS@#Fetal ultrasound was carried out at 12 weeks to 20 to 24 weeks of gestation. After excluding the chromosomal karyotype abnormality, single nucleotide polymorphism (SNP) array was used to detect copy number variations of 5 fetuses with heart development abnormality or other structural abnormalities. The fetus with 22q11.2 microdeletion and its parents were also subjected to multiplex ligation-dependent probe amplification (MLPA) assay.@*RESULTS@#SNP array analysis showed that the 5 fetuses had all carried a 2.27-3.02 Mb deletion of the 22q11.2 region. MLPA assay confirmed that LCR22-A-B was involved in all cases, and that all deletions were de novo in origin.@*CONCLUSION@#It is of great significance to exclude 22q11.2 microdeletions in fetuses with cardiac malformations. The deletion regions of these fetuses are similar but different, and the phenotypic difference is related to their genotypes.

Genetic analysis and prenatal diagnosis of a phenylketonuria pedigree / 中华检验医学杂志

Objective To provide genetic counselling for a pregnant with phenylketonuria(PKU) family history.To provide prenatal diagnosis for the pregnant of the pedigree,followed by identifying of the pathogenic mutation of the proband and the genotype of the other family members.Methods Sanger sequencing was performed to detect the phenylalanine hydroxylase(PAH)gene pathogenic mutation of the patient.Both sequencing and haplotype of the short tandem repeats(STR)site in intron 3 were analyzed for the fetus, whose mother was the aunt of the patient.Results Compound heterozygote mutation of PAH gene,IVS4-1G>A /c.770G>T was identified for the proband,which inherited from his father and mother respectively.The aunt of the patient was a carrier of the IVS 4-1G>A heterozygote mutation,whose husband was identified c.827T>A heterozygote mutation.Prenatal diagnosis disclosed that the fetus inherited the paternal c.827T >A mutation, and the haplotype of the PAH gene was different from the patient. Conclusion According to the counselling of autosomal recessive disorder,for the partner of a carrier,it is suggested that mutation detection should be performed to exclude the possibility of being a carrier too, and then the risk of the offspring can be evaluated precisely.(Chin J Lab Med,2018,41:312-315)

Genetic and prenatal diagnosis of a pedigree affected with type 3 von Willebrand disease / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To provide genetic and prenatal analysis for a pedigree affected with type 3 von Willebrand disease.</p><p><b>METHODS</b>Next generation sequencing and Sanger sequencing of the VWF gene were carried out for the pedigree. Suscepted pathogenic mutation was verified among other members of the pedigree and 100 healthy controls. Prenatal diagnosis was performed on amniotic cells derived from the fetus.</p><p><b>RESULTS</b>A homozygous mutation c.7287+1G>A of the VWF gene was detected in the patient, which was predicted by bioinformatic analysis as a pathological splice site mutation. The parents and sister of the patient have all carried the same mutation. The mutation was not detected among the 100 healthy controls. Prenatal diagnosis confirmed that the fetus did not inherit the same mutation.</p><p><b>CONCLUSION</b>A novel mutation of the VWF gene was discovered, which correlated with the phenotype of the patient. Based on the discovery, prenatal diagnosis was provided for a fetus during subsequent pregnancy.</p>

Professional psychological quality education in the training of clinical medicine postgraduates / 中华医学教育探索杂志

In the context of the combination of education for clinical medicine graduates and standardized training of resident doctors,the professional psychological quality of clinical medical postgraduates is confronted with a test.The professional psychological quality education is not only related to the professional development of medical graduate studlents,but also to the realization of the goal of training talents in medical colleges,even to the people's life and health.Medical institutions and relevant teaching hospitals can,through strengthening the psychological education system,promote the occupation education,carry out rich and colorful educational activities,strengthen employment guidance,and improve the security policy to improve the medical personnel quality,and promote the comprehensive reform of the medical and health education.

Clinical study on the alteration of Th17 cells in patients with chronic myeloid leukemia / 肿瘤研究与临床

Objective To investigate the role of Th17 cells in chronic myeloid leukemia (CML) pathogenesis. Methods 33 CML patients [15 newly diagnosed (ND)- and 18 chronic-phase (CP)- CML patients] and 15 healthy controls were enrolled. The percentage of Th17 cells in the peripheral blood (PB) of CML and controls were evaluated by flow cytometry. RORC mRNA expressions were examined by real-time quantitative reverse transcription-polymerase chain reaction (RT-PCR). The levels of IL-17 in PB of CML and controls were measured by enzyme-linked immunoadsorbent assay (ELISA). The relationships between Th17 cells and clinical characteristics in CML were analyzed. Results The percentage of Th17 cells in PB of ND-CML patients [(0.71±0.41) %] was significantly lower than that of CP-CML patients [(4.08±0.74) %, P<0.05] and healthy controls [(3.18±1.32) %, P<0.05]. The mRNA level of RORC in PB of ND-CML patients (0.043 3±0.040 5) was significantly decreased compared with that in CP-CML patients (0.086 1±0.052 3, P<0.05) and healthy controls (0.091 0±0.058 4, P<0.05). The levels of IL-17 in PB of ND-CML patients [(1.43±0.22) pg/ml] and CP-CML patients [(1.36±0.19) pg/ml] were slightly higher than that of healthy controls [(1.23±0.14) pg/ml, P< 0.05]. The percentage of Th17 cells had significantly negative correlations with white blood cell counts in PB or bcr-abl (IS). Conclusion Th17 cells may play an important role in CML pathogenesis, which has potential implication for immunotherapy of this malignancy.

Genotype and phenotype analysis of two patients with Williams syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To perform genetic analysis for two patients with supravalvular aortic stenosis and unusual facial features.</p><p><b>METHODS</b>Cytogenetic and molecular genetic methods including chromosome karyotyping, multiplex ligation-dependent probe amplification (MLPA) and single nucleotide polymorphism array (SNP-array) were performed to detect potential mutation in the patients.</p><p><b>RESULTS</b>No abnormal karyotype was detected in either patient. Deletions in 7q11.23 region (1.36 Mb and 1.73 Mb, respectively) were discovered by SNP-array for the two patients. In both patients, de novo heterozygous deletion of ELN and LIMK1 genes was confirmed by MLPA analysis.</p><p><b>CONCLUSION</b>The genotypes of the two patients were identified by molecular genetic analysis, which has facilitated interpretation of the phenotypes of these patient. According to the deletion mutation, prenatal diagnosis for the family could be performed in the future.</p>

JAK2 V617F mutation burden and its clinical implications in 415 patients with myeloproliferative neoplasm / 中华血液学杂志

<p><b>OBJECTIVE</b>To detect JAK2 V617F mutation burden and its clinical implications in patients with myeloproliferative neoplasm (MPN).</p><p><b>METHODS</b>JAK2 V617F mutation burden were detected by using MGB Taqman probes and its clinical significance were retrospectively studied in 415 MPN patients.</p><p><b>RESULTS</b>JAK2 V617F was found in 56.9% of all patients [83.5% in polycythemia vera (PV), 55.9% in essential thrombocythemia (ET), 41.9% in primary myelofibrosis (PMF) and 64.7% in MPN-unclassifiable)]. The majority of patients carried heterozygous JAK2 V617F mutation and homozygote was found only in 12 cases (4 in PV, 4 in MPN-U, 2 in PMF, 1 in ET, and 1 in chronic neutrophilic leukemia). Most patients (68.8%) were lower mutation burden (mutation burden<50%), but PV had the highest burden, the moderate burden in PMF and the least in ET. The patient's age and WBC count were significantly correlated with higher mutation burden in PV. WBC count was significantly related to higher mutation burden in ET. WBC count, Hb level and the platelet count were significantly related to higher mutation burden in PMF.</p><p><b>CONCLUSION</b>The mutation burden of JAK2 V617F from high to low was PV, ET and PMF. The majority of JAK2 V617F mutation was heterozygous. JAK2 V617F mutation burden was positively correlated with age, WBC, Hb and platelet counts.</p>

Genotype and phenotype study of two patients with 22q11.2 deletion syndrome / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To carry out genetic analysis for two patients affected with congenital heart disease, developmental delay with or without cleft palate.</p><p><b>METHODS</b>Cytogenetic and molecular genetic methods including karyotyping, fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA) and single nucleotide polymorphisms array (SNP-array) were employed to detect potential mutations. For parents of both patients, MLPA was used to analyze whether they were carrier of the deletion.</p><p><b>RESULTS</b>For neither patient, no abnormality was detected upon karyotype analysis. However, FISH analysis has indicated the presence of 22q11.2 deletion. SNP-array analysis has confirmed that both patients have carried a 2.5 Mb deletion in the 22q11.2 region. MLPA analysis suggested none of the parents has carried the same deletion.</p><p><b>CONCLUSION</b>Although the phenotypes of our patients were not identical, they were both diagnosed as 22q11.2 deletion syndrome by multiple methods. The deletions in both cases were de novo in nature. Precise delineation of the genotype can facilitate better understanding of the patients' phenotype.</p>

Hypoxia regulates osteopontin expression of mature dendritic cells via adenosine 2 receptor / 中华微生物学和免疫学杂志

Objective To investigate the mechanism of hypoxia regulate osteopontin (OPN) secreting by mature dendritic cells (mDCs). Methods CD14 + cells were enriched using anti-CD14 immunomagnetic beads, for inducing to mDCs, CD14 + cells were cultured with GM-CSF and IL-4 in hypoxia or normoxiain vitro. Concentration of OPN and TGF-β1 in supernatant were detected by sandwich ELISA, OPN mRNA detected by RT-PCR. Approach regulating function of A2 R in expressing of OPN by mDCs by using NECA (surrogate of adenosine), A2R agonist (CGS21680), A2R antagonist (SCH58261) and investigate role of TGF-β1 in this process by using rhTGF-β1 and anti-TGF-β1 Ab. Results Hypoxia inreased the level of OPN and OPN mRNA in mDCs, and this effect could be reversed by A2 R antagonist. Under normoxia,both NECA and A2R agonist (CGS21680) could upregulate the level of OPN and OPN mRNA in mDCs significantly, but this positive effect could be reversed by A2 R antagonist. A2 R played a role in regulating TGF-β1, and confirmed TGF-β1 involved in regulation of OPN by using rhTGF-β1 and anti-TGF-β1 Ab. Conclusion High adenosine induce the generation of TGF-β1 through the A2R on mDCs, and then TGF-β1 raise the OPN secreting by mDCs.

Expression of interleukin-18 and interleuldn-18 receptor a chain of the peripheral white blood cells in immune thrombocytopeula / 中华内科杂志

Objective To detect the expression of interleukin (IL)-18 of the peripheral blood cells and IL-18 receptor α chain(IL-18Rα) on the surface of CD_3~+ cells in patients newly diagnosed as immune thrombocytopenia (ITP) before medication and to explore the roles of IL-18 and IL-18Rα in the development of ITP. Methods Eighteen out-patients or inpatients with acute ITP accepting treatment in Qilu Hospital were enrolled in this study and 15 matching healthy subjects were taken as control. Plasma IL-18 level was detected with enzyme linked immunosorbent assay (ELISA), the expression of IL-18Rα on CD_3~+ lymphocytes and total lymphoeytes were measured with flow cytometry; T-bet and GATA-3 mRNA were measured with reverse transcriptase polymcrase chain reaction (RT-PCR). Results The expression of IL-18 in acute ITP plasma was (468. 57 ± 141.62) ng/L and IL-18Rα on the surface of CD_3~+ cells and lymphocytes were (8.50 ±3. 16)% and (9. 16±2.98)% respectively. The levels of IL-18 and IL-18Rα were increased in active ITP patients as compared with those in the controls (P <0. 05). The levels of IL-18 mRNA (0. 12 ±0. 02) and T-bet mRNA (0. 07 ±0. 02) were significantly increased in patients with active ITP as compared with those in the controls (P <0.05), while GATA-3 mRNA (0.0039±0.0014) were significantly decreased in patients with active ITP (P < 0. 05). The balance between T-bet and GATA-3 was significantly disturbed in ITP. Conclusions Through the variation of the levels of gene and protein, our study showed that IL-18 and IL-18Rα might upregulate the expression of Th1-cytokines in ITP patients. It is also suggested that IL-18 has potential association with the development of ITP. Especially, it may provide a new treatment method for ITP by regulating the ratio of T-bet and GATA-3 and resuming the balance of Th1/ Th2.

The effects of paeonol on inhibiting the proliferation of human colorectal cancer cell line HT-29 and its molecule mechanism / 中国药理学通报

Aim To investigate the effects of paeonol(Pae)in inhibiting the proliferation of HT-29 cell and probe into the possible molecule mechanism by quantitative and qualitative assay.Methods The inhibited rate and apoptotic rate of HT-29 cells were measured quantitatively by MTT assay.We were trying to find out the possible mechanism through the morphologic observation on paeonol-processed HT-29 cell line by TUNEL assay and immunocytochenical method.Results Pae,in the concentration of 0.024～1.504 ?mol?L~(-1),inhibited the proliferation of HT-29 cells in vitro,which showed obvious concentration-effect relationship;The inhibited rate of HT-29 cells was also increased when Pae(0.024～1.504 ?mol?L~(-1))was treated for 24,48,72 and 96 h,which showed obvious time-effect relationship.After treated with the concentration of 1.504 ?mol?L~(-1),the apoptotic rate of HT-29 cells significantly increased,which showed significant difference compared with control;We examined all the experimental groups by flow cytometry,which showed that sub-G_1 peak appeared before G_1 period and the cells in S period increased,while the cells in G_1、G_2 period decreased,the apoptotic rate of HT-29 cells gradually increased along with the increasing of paeonol concentration.The apoptotic rate in experimental groups vs control has significant difference(P

Effects of Notch and its ligands on the differentiation of 32D cell / 中华血液学杂志

<p><b>OBJECTIVE</b>To explore the mechanism of Notch signaling transduction system and its effects on hematopoietic system.</p><p><b>METHODS</b>Notch ligands transfected CHO cells were added into Notch1 and Notch2 transfected CHO cells, which were transiently transfected with reporter gene TP1. PGL-100 was used as substrate to test the interaction between Notch and Notch ligands. CHO, Jagged2-CHO and Delta 4-CHO cells were seeded in the petri dish containing G-CSF, and then Notch 1-32D cells were added in it to observe the differentiation of Notch1-32D cell after incubation and staining.</p><p><b>RESULTS</b>All of the five Notch ligands binding to Notch1 could induce TP1 activity, it increased significantly the Jagged2-CHO, Delta 4-CHO1-4 and Delta 4-CHO1-5 cells. For Notch2, the TP1 activity induced by the five ligands in these cells was much higher than that of CHO. At the presence of G-CSF, Notch1-32D could differentiate to mature granulocyte. Jagged2 could inhibit G-CSF induced Notch1-32D cell differentiation, but Delta 4 could not.</p><p><b>CONCLUSION</b>Jagged2 and Delta 4 are the ligands of Notch1. Jagged2 can inhibit G-CSF induced Notch1-32D cell differentiation, but Delta 4 can not.</p>

The study of mouse lymphoma cell EL4 transfected with mB7-2 gene / 中国免疫学杂志

Objective:To assess the potential of mouse immune-costimulating signal B7-2 in inducing immune effect.Methods:(1)The specific mB7-2cDNA fragment from LPS-stimulated mouse splenocytes was obtained by reverse transcription and polymerase chain reaction.The obtained fragment was inserted to pLXSN plasmid.Then the plasmid pLXSN-mB7-2 was packaged into PA317 cells;(2)The EL4/mB7-2 was obtained by infecting the EL4 by the concentrated virus particles produced by PA317/mB7-2;(3)In vitro,the secretion of IL-2 of EL4/mB7-2 stimulated-lymphocytes was detected by using mixed lymphocytes culture.Results:pLXSN-mB7-2 and transgenetic EL4/mB7-2 cells were obained successfully.IL-2 production in 24h in the supernatant stimulated by EL4/mB7-2 was much higher than wild EL4 cells.Conclusion:EL4/mB7-2 can activated T cell to produce IL-2.This research lay foundation for the research of the function of immune-costimulating signal in the tumor immunity and treatment,the mechanism of autoimmune disease and organ transplantation.