Adolescent ; Adult ; Antithrombin III Deficiency ; genetics ; Antithrombins ; Female ; Humans ; Male ; Mutation ; Pedigree ; Phenotype

Objective To explore the changes and clinical significance of prothrombin time(PT),activated partial thromboplastin time(APTT),thrombin time(TT),fibrinogen time(FGB)and platelet(PLT)on Kawasaki disease(KD)in children with acute and convalescent 10 d,which aimed at early diagnosis,prediction and prognosis of coronary artery lesions.Methods Thirty-eight cases who were diagnosed KD were selected as KD group,30 cases age-matched acute respiratory infections in children with fever as fever group,moreover,30 cases of a class of elective surgery preoperative children admitted to surgical departments were put as control group.The plasma PT,APTT,TT,FGB,PLT of all cases and plasma APTT,FGB,PLT in recovery 10 d in children with KD disease were detected,and then the results were compared between the 3 groups;and the results of APTT,FGB,PLT in KD children with acute and convalescent 10 d to coronary artery dilatation groups or not were compared.Results 1.APTT prolonged and FGB,PLT increased in KD children with acute stage,which had a significant difference compared with other groups(Pa0.05).2.When comparing the results of APTT,FGB,PLT in KD children with acute and convalescent 10 d,the difference was significant(Pa

Objective:To understand clinical characteristics, treatment effects and prognosis of children with methylmalonic acidemia (MMA) presented with hemolytic uremic syndrome(HUS).Methods:The medical records of children with MMA were collected in Beijing Children′s Hospital, Capital Medical University from January 2012 to January 2019, the clinical manifestations, laboratory, imaging material, inspection results, renal pathological, gene analysis, treatment effect, and prognosis of MMA children with renal damage were analyzed, and were followed-up for 1-7 years.Results:Thirty cases were diagnosed as MMA with secondary renal damage.Eight cases(26.67%) showed as MMA-HUS.Age was from 1 month and 14 days to 12 years and 10 months old.There were 4 males and 4 females.The concentration of urine methylmalonic acid increased by 10-62 times.All were combined with hyperhomocysteine(HCY). The level of serum methylmalonic acid(1.5-11.8 mg/L), propylene carnitine(6.33-9.77 μmol/L)and the ratio of propylene /ethylene carnitine (0.24-0.29)were increased.Manifested as the mental and physical development retardation, anemia, jaundice, renal dysfunction, platelet reduction, hematuria, proteinuria in 8 cases, hypertension in 6 cases, frequent vomiting and convulsions in 2 cases.Two cases had a positive family history.Renal pathology showed that mesangial cells and mesangial matrix proliferation broadening, electron dense deposits no mesangial area, renal tubular epithelial cell swelling degeneration, immunofluorescence was negative.Two cases were genetically analyzed. One case was a CblC type MMACHC compound heterozygous mutation[c.80A>G(p.Q27R); c.217C>T(p.R73X)] and CblX type HCFC1 heterozygous mutation [c.3757G>A(p.R1253C)] double mutation; 1 case was a CblC type MMACHC compound heterozygous mutation[c.365A>T(p.H122L); c.609 G>A(p.W203X)]. Children diagnosed were treated with vitamin B 12, etc.Four cases of children gave up.The others, after treatment, were improved. Conclusions:MMA-HUS might be associated with multiple organ failure.Early diagnosis was the key, timely treatment could effectively control the disease, improve the prognosis.It should be followed up for ever.

Objective To evaluate the image quality,diagnosis accuracy and dose reduction of split-bolus CT urography (CTU) with low voltage scan and sinogram affirmed iterative reconstruction (SAFIRE).Methods A total of 80 cases of consecutive patients with confirmed or suspected urinary system disease needed CTU examination were divided into two groups (control group and test group) by using random number table.In control group,convention scan (120 kV) with one time injection was used.But low voltage scan (80 kV) with SAFIRE algorithm and split-bolus injection (SBI) was used in experiment group.The radiation dose,image quality and diagnosis accuracy were compared.Results A total of 77 cases completed CTU examination successfully in the two groups,including 39 cases in control group and 38 cases in test group.The effective dose reduced from (26.68 ± 4.07) in control group to (3.93 ± 0.85) mSv in test group (t =-33.78,P ＜ 0.05).Subjective image quality score was (4.49 ± 0.79) in control group and (4.39 ± 1.53) in test group,with no significantly statistical difference (Z =2.71,P ＞ 0.05).Signal-to-noise ratio (SNR) of objective image quality in test group was higher than that in control group (127.3±15.9 vs.109.6 ± 13.2,t =4.49,P＜0.05).But there was no significantly statistical difference in contrast-to-noise ratio (CNR) between control group(100.8 ± 12.9)and test group (109.0 ± 14.4,P ＞ 0.05).For diagnosis accuracy,no statistical difference were found between two groups(84.62％ and 81.58％,P ＞ 0.05).Conclusions The combination of low voltage scan with SAFIRE algorithm and split-bolus injection CTU could reduce the radiation dose significantly,but the objective image quality,CNR (except SNR) of subjective image quality and diagnosis accuracy were all unaffected obviously.

Objective To investigate the expression of FHIT gene in the 60Co gamma-ray irradiated human lymphocytoblast(AHH-1) cell and the bystander effect cell,and to explore the function of FHIT gene in the bystander effect of ionizing radiation.Method Preparation of bystander effect cell model:after irradiated with different dose of 60Co gamma-ray(0,2,5 Gy),the directly irradiated AHH-1 ceils were collected immediately by centfifugation and co-cultivated with non-irradiated cells in Transwell.forming the bystander effect group P1.In addition,some culture media supernatant of direcfly irradiated cells were transfefred to the non- irradiated cells culture medium,forming the group P2.Then cells were collected at 0,6,12,and 24 h after irradiation and the total RNA and protein were extracted.RT-PcR and Western blot were performed to determine the FHIT mRNA and protein level.respectively.Flow cytometry assay and cell counting were conducted to detect the alteration of cell cycle and cell proliferation,respectively at 0,24 h after irradiation.Results The mRNA level of FHIT gene among control cells,directly irradiated cells and bystander cells showed no obvious difference. while the FHIT protein level of the directly irradiated ceils and bystander cells was siguificandy down-regulated compared with the control cells(F=102.45,P<0.001).Moreover,the directly irradiated cells and bystander cells showed significant G2 phase arrest and obviously inhibited the proliferation ability.Conclusions 2 and 5 Gy of 60Co γ-ray irradiated AHH-1 cells can result in down regulation of the FHIT protein expression,which suggests that FHIT gene is involved in the process of bvstander effect induced by irradiation.

Background Aliskiren is a novel blood pressure-lowering agent acting as an oral direct renin inhibitor.The aim of this study was to assess the effect of aliskiren on arterial stiffness,compared with that of ramipril in mild to moderate essential hypertensive patients.Methods Following a two week placebo run-in period,patients with a mean sitting diastolic blood pressure (ms-DBP) ＞95 and ＜110 mmHg (1 mmHg=0.133 kPa),and a mean sitting systolic blood pressure (ms-SBP) ＜180 mmHg were randomly allocated to treatment with aliskiren (150 mg/d,n=20) or ramipril (5 mg/d,n=20) for eight weeks.Blood pressure,plasma renin activity,and the brachial-ankle pulse wave velocity (ba-PWV) were measured before and after eight weeks of treatment.Results Eight weeks of treatment significantly decreased systolic blood pressure and diastolic blood pressure in both the aliskiren group and ramipril group.The hypotensive effect did not differ between the two groups.Plasma renin activity decreased after aliskiren treatment and increased after ramipril treatment.There was no significant difference in baseline ba-PWV between the aliskiren and ramipril groups (P=-0.892).The ba-PWV was significantly reduced in both the aliskiren group (1535 (1405-1666) vs.1464 (1360-1506) cm/s) (P ＜0.01) and the ramipril group (1544 (1433-1673) vs.1447 (1327-1549) cm/s) (P ＜0.01).No statistically significant difference was found in the decline of ba-PWV between the two groups (P=0.766).Conclusions The current study revealed that aliskiren (150 mg/d) could ameliorate arterial stiffness and its effect was similar to ramipril (5 mg/d) in mild to moderate hypertensive patients,indicating that in addition to lowering blood pressure,aliskiren had beneficial effect on vascular protection.

Objective To study the expression of Livin,a novel inhibitor of apoptosis protein(IAP)family member in children with acute lymphocytic leukemia(ALL).Methods Livin protein of 40 cases myeloid tissue of children with ALL and 20 cases that of non-leukemia children were assayed by streptomycin avidin-biotin-peroxidase complex staining immunohistochemical method in order to analyze the relationship between Livin protein expression and development of ALL.Results The positive rates of Livin protein expression was 40% in 40 cases ALL,but in control group,the positive rates of Livin protein expression was 5%.The difference of 2 groups was significant(P

Objective To study the expression of novel inhibitor of apoptosis protein(IAP) family member livin gene and its two isoforms(livin ? and livin ?) in brain tissue of children with gliomas.Methods Livin ? and Livin ? mRNA were detected by real time fluorescent quantitative reverse transcription polymerase chain reaction(RT-PCR) in brain tissue of 30 children with gliomas and 12 healthy children.Result The positive rate of Livin mRNA expression was 83.3%(25/30 cases)in 30 cases of children with gliomas,the positive rate of Livin mRNA was only 8.3%(1/12 case) in normal brain tissue,there was significant difference in 2 groups(P

Objective: To explore the relationship between atrial MMP-9 with its inhibitor (TIMP-1), anti-apoptosis gene (BCL-2) with apoptosis gene (BAX) and the aging with atrial remodeling in experimental dog model during atrial ifbrillation (AF), in order to better deal with the aging caused AF.
Methods: The experimental dogs were divided into 4 groups: ①Adult with sinus rhythm (ASR) group, ②Elder with sinus rhythm (ESR) group and③Adult with AF (AAF) group,④Elder with AF (EAF) group. n=7 in each group. Chronic AF model was induced by rapid and persistent atrial pacing. The mRNA and protein expressions of MMP-9, TIMP-1 and BCL-2, BAX were measured by real time quantitative RT-PCR and Western blot analysis. The cellular ultra structural remodeling was examined by optical/electron microscopy, and the apoptosis index was determined by TUNEL method,
Results: Compared with adult dogs, the elder dogs showed obviously increased expressions of MMP-9, BAX, and decreased expressions of TIMP-1, BCL-2, all P<0.05. Compared with SR gods, the AF dogs presented up-regulated expressions
of MMP-9, BAX, all P<0.05, and down-regulated expressions of TIMP-1, BCL-2, all P<0.05, such changes were most obvious in elder AF dogs. Accompanying with the aging and AF, the degree of atrial ifbrosis, cellular ultra structure and the apoptosis index were changed with the statistic meaning.
Conclusion: The abnormal expressions of MMP-9/TIMP-1 and BCL-2/BAX might be one of the molecular mechanisms for aging caused AF in experimental dog model.

Analyzing the function of gene sets is a critical step in interpreting the results of high-throughput experiments in systems biology. A variety of enrichment analysis tools have been developed in recent years, but most output a long list of significantly enriched terms that are often redundant, making it difficult to extract the most meaningful functions. In this paper, we present GOMA, a novel enrichment analysis method based on the new concept of enriched functional Gene Ontology (GO) modules. With this method, we systematically revealed functional GO modules, i.e., groups of functionally similar GO terms, via an optimization model and then ranked them by enrichment scores. Our new method simplifies enrichment analysis results by reducing redundancy, thereby preventing inconsistent enrichment results among functionally similar terms and providing more biologically meaningful results.
Algorithms ; Breast Neoplasms ; genetics ; Computational Biology ; methods ; Databases, Genetic ; Female ; Gene Expression Profiling ; Gene Ontology ; Gene Regulatory Networks ; Humans ; Oligonucleotide Array Sequence Analysis ; methods