Objective To investigate the clinical manifestations,treatment and prognosis of reversible posterior leukoencephalopathy syndrome (RPLS) after acute lymphoblastic leukemia chemotherapy.Methods The clinical and imaging data of one case with acute lymphoblastic leukemia were analyzed and literatures were reviewed.Results The main clinical presentation of the patient included abdominal distension,repeated fever with fatigue.Depend on the results of the blood routine test and bone marrow relative examinations,the patient was diagnosed as acute lymphoblastic leukemia pro-B cell high risk group.After the induction therapy and consolidation chemotherapy,hypertension and neurological symptoms were appeared.Combined with the imaging examination,it was diagnosed as RPLS.Recieved active treatment,the patient recovered completely,and the imaging test was improved rapidly.Conclusion The causes of RPLS are variety,and its clinical manifestations and imaging test are non-specific.RPLS has a favorable prognosis.The correct diagnosis and treatment are the key points.

Objective:To compare the expression and biological activity of glucosyl transferases (GTFs)of Streptococcus mutans (S.mutans)under normal outside environment between high temperature requirment serine proteinase A(HtrA)-deficient strains and high virulent strains isolated from children with high cario-susceptibility.Methods:The HtrA-deficient strains and high virulent strains of S.mutans were obtained by preliminary study.The strains were reanimated and incubated in BHI medium to exponential phase at tenth hour.The expression of gtfB,gtfC and gtfD were detected by real-time RT-PCR.The biological activity of the GTFs were detected by entong sulfuric acid method and Western Blot.Results:The expression of gtfs and GTFs in the HtrA-deficient strains was higher than those of high virulent strains,but the biological activity of the GTFs was lower.Conclusion:The HtrA gene plays an important regulatory role in the process of the GTFs expression of S.mutans isolated from children with high cario-susceptibility.

Objective To investigate the clinical and pathological characteristics of normotensive pheochromocytomas ( NP) . Methods This retrospective study included 97 patients with a pathological diagnosis of pheochromocytoma at the Drum Tower Hospital Affiliated to Nanjing University Medical School during January 2004 to December 2013. All available clinical, biochemical, and radiological records were reviewed in these patients who were then categorized into hypertensive pheochromocytomas (HP) (n=64) and NP (n=33) groups. 97 cases of Adrenal Gland Scale Score of pheochromocytoma were examined, including tissue microscopic pathology assessment, ki67 and phenylethanolamine-N-methyltransferase ( PNMT ) immunohistochemistry and catecholamine type. Biochemical examinations of 95 subjects with primary hypertension ( PH) were recorded for comparative study. Results The patients with NP showed lower proportion of clinical triad than HP, inapparent metabolic disorders, and lower urinary catecholamine levels than HP, but showed higher results than primary hypertension. The weight of tumor was positively correlated with 24 hour urinary norepinephrine level in patients with HP(Y=1. 376+0. 653X,R2=0. 118, P=0. 028), but not in patients with NP;and the size or diameter of the tumor was negatively correlated with PNMT immunohistochemistry in patients with NP(Y=0. 940-0. 356X, R2=0. 494, P=0. 005), but not in patients with HP, indicating that NP may be misdiagnosed clinically. Conclusion Patients with NP have distinct clinical, biochemical, and pathological phenotypes; the phenotypic changes are closely related with the expression levels of catecholamine pathway products during the occurrence and development of the tumors.

Objective:To establish the technique for real-time fluorescence quantitative reverse transcription polymerase chain reaction(FQ-PCR)by DNA melting curve analysis for detecting the CDR3 shewing of TCR alpha gene repertoire in human peripheral blood.Methods:Total RNA of peripheral blood mononuclear cell(PBMC)from 4 healthy donors and 2 patients with lymphomatous leukemia were transcripted reversely into cDNA.The cDNA of 32 TRAV gene family CDR3 was amplified by FQ-PCR.Analysis of the monoclonal/oligoclonal/polyclonal CDR3 spectratyping with DNA melting curve.Results:The FQ-PCR products of 32 TRAV family CDR3 were showedas a blur land at the predicted of products size in healthy donors and parts of TRAV family CDR3 products disappeared in patients on 1.5% agarose gel by Gold-View staining.The 32 TRAV family CDR3 were showed with different frequencies by relative fluorescence quantitative in healthy donors and the patients.The CDR3 spetratyping for 32 TRAV families was showed as polyclonal peak(Gaussian distribution)in healthy donors but showed as different monoclonal/oligoclonal/polyclonal peak in the patients with lymphomatous leukemia with DNA melting curve analysis(we called "melting curve spectratyping of CDR3")Conclusion:The study suggests that the technique of "FQ-PCR with DNA melting curve analysis be convenience and celerity for detecting the CDR3 skewing of TCR alpha gene repertoire in human peripheral blood.

Objective To investigate whether the Serum Ig is help to choose the optimal treatment in patients with immune thrombocytopenia(ITP) .Methods 128 ITP patients were collected for 3 years .All of ITP patients were treated with the step-style protocol including glucocorticoid(CsA)lombied IVIG ,Ciclosporin A and TPO receptor agonist lombied rituximab .The treatment re-sponse were evaluated according the comparison between the two groups namely ≤IgG ,IGM ,IgA median and > median groups . Results There was no relationship between the bleeding and IgA 、IgM、IgG level .Low IgM level was associated with first line treatment resistance and showed the response to CsA and TPO receptor agonist lombied rituximab .High IgA level was associated with the resistance of first line and CsA treatment ,but showed no response to TPO receptor agonist lombied rituximab .Conclusion Serum Ig level is helpful for the choice of optimal treatment strategies in adult IT P patients .

Objective To investigate the relationship of HSP27 expression with treatment response ,remission rate ,prognosis in multiple myeloma(MM) patients .Methods Eighty‐six patients with MM first diagnosis and 27 relapse cases were collected re‐spectively .Control was defined as non‐hematological malignance .The MM patients divided into first diagnosis ,relapse conventional chemotherapy group and bortezomib group .HSP27 expression and protein level were measured on pre‐and post 1 ,2 and 3 treatment circles .Results The tendency of HSP expression and protein level:relapse‐MM patients> first‐diagnosis MM patients> control . HSP27 expression and level in Ⅲ phase was higher than those in Ⅱ phase for first‐diagnosis MM patients .Bortizomib‐containing chemotherapy protocol showed more effectively decrease on HSP27 than chemotherapy treatment only .At post‐1 treatment circle , HSP27<1 showed higher survival rate than HSP27>1 and delayed the relapse time .Conclusion BMMNC‐HSP27 expression and protein level is associated with staging ,treatment response and prognosis in MM patients .

Objective:To explore the effects of curcumin on the biological characteristics and expressions of NF-κB pathway-related proteins in glucocorticoid-resistant acute lymphoblastic leukemia (ALL) cell line Jurkat.Methods:The drug-resistant ALL cell line Jurkat was selected, and 1 μmol/L dexamethasone was used as the optimal concentration for drug resistance of Jurkat cells, and the cells were passaged and cultured. The cells were divided into 10, 25 and 50 μmol/L curcumin groups, as well as 50 μmol/L pyrrolidinedithiocarbamate (PDTC) group, and control group (equal volume of culture medium without drug was added). The cells in each group were cultured for 72 h, and the cell morphology was observed under an inverted microscope. The CCK-8 method was used to detect the proliferation ability of Jurkat cells, flow cytometry was used to detect the apoptosis ability and cell cycle of Jurkat cells, real-time fluorescence quantitative polymerase chain reaction (qRT-PCR) was used to detect the relative expressions of NF-κB p65, NF-κB p50, IκBα, and A20 mRNA, and Western blotting was used to detect the expressions of NF-κB p65, NF-κB p50, IκBα, caspase-8, caspase-3, bcl-2, and A20 proteins.Results:Jurkat cells were treated with 10, 25, 50 μmol/L curcumin and 50 μmol/L PDTC for 72 h. In the control group, the cell membranes were basically intact, the size was uniform, the cell was round and transparent, and the cell nucleus had uniform fluorescence; a large number of deformed cells and cell fragments were observed in curcumin groups with different concentrations and 50 μmol/L PDTC group, with concentrated and fragmented nuclei and obvious apoptosis. After treating Jurkat cells with different concentrations of curcumin and 50 μmol/L PDTC for 24, 48 and 72 h, respectively, the cell proliferation inhibition rates in curcumin groups with different concentrations and PDTC group were higher than those in the control group (all P < 0.01). The apoptosis rates at 72 h in the control group, 10 μmol/L curcumin group, 25 μmol/L curcumin group, 50 μmol/L curcumin group, and 50 μmol/L PDTC group were (4.9±0.1)%, (99.2±0.1)%, (99.9±0)%, (100.0±0)%, and (100.0±0)%, respectively, and the difference was statistically significant ( F = 2 876 604.40, P < 0.001); compared with the control group, the apoptosis rates in curcumin groups with different concentrations and 50 μmol/L PDTC group were higher, and the differences were statistically significant (all P < 0.01). Compared with the control group, the proportions of S-phase and G 2-phase cells were lower and the proportion of G 1-phase cells was higher in curcumin groups with different concentrations and 50 μmol/L PDTC group at 72 h, and the differences were statistically significant (all P < 0.01). Compared with the control group, the protein and mRNA expressions of NF-κB p65 and NF-κB p50 in curcumin groups with different concentrations and 50 μmol/L PDTC group were lower (all P < 0.01), while the protein expressions of IκBα, caspase-8 and caspase-3 were higher (all P < 0.01), the protein expression of bcl-2 was lower ( P < 0.01), and the protein and mRNA expressions of A20 were higher (both P < 0.01). Conclusions:Curcumin can effectively reverse glucocorticoid resistance and promote apoptosis in Jurkat cells, which may be related to the influence of curcumin on NF-κB pathway-related proteins.

Objective To compare and analyze the efficacy and risks of percutaneous CT/ultrasound-guided bipolar radiofrequency ablation(RFA)under local anesthesia with robotic-assisted laparoscopic partial nephrectomy(RAPN)for the treatment of sporadic small renal mass.Methods A retrospective study was conducted on 93 consecutive patients with T1a stage small renal mass during Mar.2019 and Oct.2021.Among them,51 underwent RAPN,and 42 underwent RFA.General information,tumor characteristics,perioperative and follow-up data were collected and statistically analyzed.Results There were no significant differences in general information and tumor characteristics between the two groups(P＞0.05).The operation time[(96.0±20.0)min vs.(113.5±24.1)min,P＜0.001],hospital stay[(3.5±0.8)day vs.(6.9±1.8)day,P＜0.001],and hospital costs[(2.4±0.7)ten thousand yuan vs.(6.6±0.4)ten thousand yuan,P＜0.001]were significantly decreased in the RFA group than in the RAPN group.There were no significant differences in the incidence of perioperative complications and long-term disease-free survival rate between the two groups(P＞0.05).However,the difference between one-year postoperative estimated glomerular filtration rate(eGFR)and preoperative eGFR was significantly lower in the RFA group than in the RAPN group[-2.3(-4.7-1.3)mL/(min·1.73 m2)vs.-5.0(-9.1 2.8)mL/(min·1.73 m2),P=0.003],and the reduction of one-year postoperative creatinine and preoperative creatinine was slightly lower in the RFA group than in the RAPN group[4.0(-0.2-5.5)μmol/L vs.4.5(1.8-9.2)μmol/L,P=0.122].Conclusion RFA can achieve comparable disease-free survival rate as RAPN in the treatment of T1a renal tumor,and can effectively preserve renal function,reduce medical costs,save medical resources,and lower the incidence of perioperative complications.

OBJECTIVE: To assess the value of copy number variation analysis based on next generation sequencing (CNV-seq) in prenatal diagnosis for women at advanced maternal age. METHODS: A prospective analysis was carried out for women who underwent amniocentesis at 18~36 weeks of gestation for fetal CNV-seq for advanced maternal age. RESULTS: For 1461 unrelated Chinese women with a singleton pregnancy, CNV-seq was performed for all samples successfully. The proportion of chromosomal abnormalities was 2.3% (34/1461), of which 44.12% were submicroscopic copy number variations (<5 Mb). CONCLUSION Pregnant women at an advanced maternal age should be informed for not only common trisomies but all pathogenic chromosomal aberrations. NGS was a sensitive and accurate approach for detecting CNVs.
Chromosome Aberrations ; Chromosome Disorders ; DNA Copy Number Variations ; Female ; Humans ; Maternal Age ; Pregnancy ; Prenatal Diagnosis ; Prospective Studies

OBJECTIVETo analyze the outcome of chromosomal microarray analysis (CMA) in prenatal diagnosis for fetal abnormalities detected by ultrasonography.

METHODSAmniotic fluid samples from 477 pregnancies with abnormal ultrasound findings but without common aneuploidies were detected by CMA with Affymetrix CytoScan 750K arrays. The results were analyzed with ChAS v3.0 software.

RESULTSAmong the 477 samples, 24 (5.03%) were detected with pathogenic copy number variations (pCNVs) by CMA. Six (9.68%) among 62 cases with structural fetal abnormalities in multiple organ systems were detected with pCNVs, 11 (7.48%) among 147 cases with a single structural anomaly were detected with pCNVs, and 7 (2.61%) among 268 cases with a soft marker were detected with pCNVs.

CONCLUSIONCMA has offered a clear advantage over conventional karyotyping for the detection of fetal chromosomal abnormalities, and can provide an effective diagnostic tool for those with one or more structural abnormalities detected by ultrasound.

Adolescent ; Chromosome Aberrations ; Chromosome Disorders ; diagnosis ; embryology ; genetics ; DNA Copy Number Variations ; Female ; Fetal Diseases ; diagnosis ; diagnostic imaging ; genetics ; Fetus ; diagnostic imaging ; Humans ; Karyotyping ; Male ; Microarray Analysis ; methods ; Pregnancy ; Prenatal Diagnosis ; Ultrasonography, Prenatal ; methods ; Young Adult