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 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.

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.

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.

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

BACKGROUNDAliskiren 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.

METHODSFollowing 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.

RESULTSEight 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).

CONCLUSIONSThe 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.

Adult ; Amides ; therapeutic use ; Antihypertensive Agents ; therapeutic use ; Female ; Fumarates ; therapeutic use ; Humans ; Hypertension ; drug therapy ; physiopathology ; Male ; Middle Aged ; Ramipril ; therapeutic use ; Vascular Stiffness ; drug effects

BACKGROUNDCatestatin, a chromogranin A-derived peptide, is a potent antagonist of nicotine-evoked catecholamine release. We know that catecholamine plays an important role in cardiovascular remodeling induced by hypertension, therefore we hypothesized that catestatin would affect target-organ structure during hypertension.

METHODSTwelve spontaneously hypertensive rats (SHRs) were randomized to SHR control group and catestatin group, the normal control group was comprised of six healthy Wistar-Kyoto rats of the same age. Tail-cuff blood pressure and pulse rate were obtained at weeks 1, 4 and 8. At the end of the eight-week period, the heart, abdominal aorta and left kidney were excised and weighed, VG staining was done and the intima-media thickness of vessels and the collagen volume fraction were assessed by an image acquisition and analysis system. The proliferating cell nuclear antigen (PCNA) was observed by immunohistochemistry, and real time reverse transcription-polymerase chain reaction (RT-PCR) was used to detect the mRNA levels of proliferative genes including cyclin A, ki67 and PCNA in the abdominal aorta.

RESULTSAll the parameters in SHR observed in the present study increased significantly compared to Wistar Kyoto rats (P < 0.01). With intervention with catestatin, the systolic blood pressure decreased slightly but it was not significantly different from the SHR control, the cardiac mass index and left ventricular mass index both decreased significant ly, the collagen volume fraction decreased by nearly 30% in the heart, by 25% in vessels and by 10% in the kidney, and the intima-media thickness and expression of proliferative genes, including cyclin A, ki67 and PCNA, in the abdominal aorta also decreased significant ly.

CONCLUSIONSThe present study indicated that catestatin could ameliorate proliferating changes of heart, kidney and vessels during hypertension, especially to the deposition of interstitial collagen. Blood pressure was not the main factor to mediate this effect, which suggested that catestatin could become a novel protective factor for hypertensive target organs.

Animals ; Aorta, Abdominal ; drug effects ; pathology ; Blood Pressure ; Cell Proliferation ; drug effects ; Chromogranin A ; pharmacology ; Heart Rate ; drug effects ; Hypertension ; drug therapy ; pathology ; physiopathology ; Kidney ; drug effects ; pathology ; Male ; Peptide Fragments ; pharmacology ; Rats ; Rats, Inbred SHR ; Rats, Inbred WKY

In clinical practice, we have found that cognitive impairment frequently occurs in chronic obstructive pulmonary disease (COPD) patients, but little is known about its pathophysiological mechanism. Given that brain-derived neurotrophic factor (BDNF) is affected by many factors such as smoking, infection, hypoperfusion and hypoxia, the present study was to explore the expression of BDNF in COPD rats. The rat COPD model was established by passive smoking and intratracheal instillation of lipopolysaccharide (LPS). Rats with the same age and gender ratios were divided into 4 groups: the control group (n = 6), the smoking group (n = 6), the LPS group (n = 6) and the smoking + LPS group (n = 6, COPD model). Level of BDNF in serum was measured by ELISA. And the expression of BDNF in the hippocampus was assessed using the immunohistochemistry and image analysis. The results showed that BDNF in the hippocampus and serum significantly increased in the smoking, LPS and smoking + LPS groups, compared to that in the control group. However, the expression of BDNF was less in the smoking + LPS group than that in the smoking or LPS group both in the hippocampus and serum. In conclusion, the expression of BDNF in the hippocampus and serum is highly increased in the COPD group. Smoking and intratracheal instillation of LPS induce the increase of BDNF level in the hippocampus and serum.
Animals ; Brain-Derived Neurotrophic Factor ; blood ; metabolism ; Disease Models, Animal ; Female ; Hippocampus ; metabolism ; Lipopolysaccharides ; Male ; Pulmonary Disease, Chronic Obstructive ; chemically induced ; metabolism ; physiopathology ; Rats ; Rats, Sprague-Dawley ; Tobacco Smoke Pollution