Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism / 中华医学杂志(英文版)

Background@#The transcription factor paired box 8 (PAX8) was associated with type 2 congenital non-goitrous hypothyroidism (CHNG2), a clinical phenotype of congenital hypothyroidism (CH). Though studied in a few regions with different ethnicities, the incidence of PAX8 mutations varied, even among Chinese cohorts in different regions. This study aimed to identify and characterize PAX8 mutations and explore the prevalence of its mutations in another cohort of CH.@*Methods@#The 105 unrelated Chinese patients with CH were collected from four major hospitals. Exomes of the 105 samples were sequenced by Hiseq 2000 platform to identify mutations of PAX8 on genomic DNAs extracted from peripheral blood samples. Luciferase reporter assays were used to assess the effects of mutations on the transcription of thyroid peroxidase (TPO).@*Results@#Three PAX8 mutations in four subjects were identified in 105 samples. One variant, rs189229644, was detected in two subjects, and categorized as uncertain significance. The other two missense mutations (275T>C/Ile92Thr and 398G>A/Arg133Gln) were not detected in three large-scale genotyping projects, namely 1000 Genome Project, Exome Aggregation Consortium and GO Exome Sequencing Project. Functional studies for the two mutations revealed that they could impair the transcription ability of PAX8 on one of its target genes, TPO. Therefore, the two mutations were causative for the pathogenesis of CHNG2. After combining the studies of PAX8 mutations, an average frequency of 1.74% (21/1209) could be obtained in Chinese patients with CH.@*Conclusion@#The study specifically demonstrates the role of two mutations in impairing the transcription ability of PAX8, which should be considered as pathogenic variants for CH.

Novel non-synonymous mutations of PAX8 in a cohort of Chinese with congenital hypothyroidism / 中华医学杂志(英文版)

BACKGROUND@#The transcription factor paired box 8 (PAX8) was associated with type 2 congenital non-goitrous hypothyroidism (CHNG2), a clinical phenotype of congenital hypothyroidism (CH). Though studied in a few regions with different ethnicities, the incidence of PAX8 mutations varied, even among Chinese cohorts in different regions. This study aimed to identify and characterize PAX8 mutations and explore the prevalence of its mutations in another cohort of CH.@*METHODS@#The 105 unrelated Chinese patients with CH were collected from four major hospitals. Exomes of the 105 samples were sequenced by Hiseq 2000 platform to identify mutations of PAX8 on genomic DNAs extracted from peripheral blood samples. Luciferase reporter assays were used to assess the effects of mutations on the transcription of thyroid peroxidase (TPO).@*RESULTS@#Three PAX8 mutations in four subjects were identified in 105 samples. One variant, rs189229644, was detected in two subjects, and categorized as uncertain significance. The other two missense mutations (275T>C/Ile92Thr and 398G>A/Arg133Gln) were not detected in three large-scale genotyping projects, namely 1000 Genome Project, Exome Aggregation Consortium and GO Exome Sequencing Project. Functional studies for the two mutations revealed that they could impair the transcription ability of PAX8 on one of its target genes, TPO. Therefore, the two mutations were causative for the pathogenesis of CHNG2. After combining the studies of PAX8 mutations, an average frequency of 1.74% (21/1209) could be obtained in Chinese patients with CH.@*CONCLUSION@#The study specifically demonstrates the role of two mutations in impairing the transcription ability of PAX8, which should be considered as pathogenic variants for CH.

Effect of long-term alcohol consumption on morning blood pressure surge and its association with left ventricular hypertrophy in male hypertension patients / 第二军医大学学报

Objective To explore the effect of long-term alcohol consumption on morning blood pressure surge (MBPS) and its association with left ventricular hypertrophy (LVH) in males with hypertension. Methods According to the findings of our questionnaire survey, 199 male patients with hypertension were divided into non-drinking, giving up drinking and mild, moderate and heavy drinking groups. The fasting plasma glucose (FPG), serum total cholesterol (TC), triglycerides (TG), high density lipoprotein (HDL), low density lipoprotein (LDL), heart rate (HR) and body mass index (BMI) were examined in all patients. The 24-hour ambulatory blood pressure monitoring and echocardiography were performed and the left ventricular mass index (LVMI) were calculated. The data were analyzed by using SPSS 10.0 software. Results The FPG, TC, TG, HDL,LDL HR, BMI and other parameters had no significant differences among the 5 groups (P>0. 05). The levels of 24- hour mean systolic blood pressure(24h SBP), daytime mean systolic blood pressure (dSBP) and nighttime mean systolic blood pressure(nSBP) in the non-drinking, giving up drinking and mild drinking groups were significantly lower than those in the moderate and heavy drinking groups (P0. 05). The average daily alcohol consumption was positively correlated with MBPS value andLVMI in the moderate and heavy drinking groups (P<0. 05). Conclusion Long-term moderate and heavy drinking can affect the circadian rhythm of blood pressure, and aggravate MBPS and LVH in males with hypertension. The MBPS and degree of LVH increase with the increase in alcohol consumption.

Clinical study on Bevacizumab for macular edema induced by retinal vein occlusion / 国际眼科杂志(Guoji Yanke Zazhi)

To evaluate the safety and efficacy of intravitreal bevacizumab injection in patients with macular edema (ME) induced by retinal vein occlusion (RVO). ● METHODS: The records of patients treated with intravitreal injection of 1. 75mg bevacizumab for ME induced by RVO were retrospectively reviewed. All patients were evaluated by complete ophthalmic examination, optical coherence tomography ( OCT) and fundus fluorescein angiography ( FFA ), etc. Best corrected visual acuity (BCVA), intraocular pressure, the change of lens and vitreous, central foveal thickness (CFT) were observed at 1, 2, 3, 6mo after treatment and compared with before treatment. Repeated treatment with intravitreous bevacizumab occurred if there were signs of persistent or recurrent exudation. All the cases were followed up at least 6mo. An intravitreal injection of bevacizumab (1. 75mg) was given at 6wk intervals. ●RESULTS: Fifty patients (56 eyes) with the average of (57±18. 56) years old were included. The mean baseline of BCVA, CFT were (logMAR0. 82±0. 63), (626. 5±178. 0)μm respectively. Although there was no significant decrease in mean CFT at 1wk after injection, the mean BCVA had significant improvement. Followed up at mean 10. 26 ± 5. 87mo, BCVA, CFT showed significant improvements over baseline values. The statistics of CFT at 1, 2, 3mo after injection were significant differences compared with before injection in each of the three groups. CFT at 1, 3, 12mo after injection were (365. 11±23. 212) μ m, (333. 42± 35. 526) μ m, (267. 6 ± 116. 8) μ m, which had a significant difference ( P 0. 05). OCT image showed that after injection macular retinal thickness was becoming thinner. FFA showed that after injection macular fluorescein leakage decreased. BCVA was improved by at least two lines in 48 eyes (86%),remained stable in 8 eyes (14%) at the last visit. A total of 112 injections were performed and the average number of injections was 1. 96 in the group. About 50% of reinjections gained at least two lines of vision improvement at 1wk following the retreatment. There was no serious complications during the treatment. ●CONCLUSlON: lntravitreal injection of bevacizumab can improve visual acuity (VA) of RVO (CRVO and BRVO) in patients with ME, relieve ME, reduce the leakage of CNV, and repeated treatment is better. But a prolonged treatment effect needs further observation. There are no serious ocular and systemic complications occurred in our study.

Research progress of the diagnosis and treatment for retinal vein occlusion / 国际眼科杂志(Guoji Yanke Zazhi)

Retinal vein occlusion ( RVO ) is a common vascular disease of the retina and is one of the main reasons for blindness. ln recent years, there have been some new understanding about the diagnosis and treatment of the disease, especially some new researches about treatment,for example ,in the therapy of the intravitreal injection of triamcinolone acetonide and anti-VEGFs as well as dexamethasone implant ( Ozurdex ) . This article will make a brief summarization of the progress about the diagnosis and treatment of RVO.

Clinical observation of bevacizumab (avastin) for treating age - related macular degeneration / 国际眼科杂志(Guoji Yanke Zazhi)

AIM: To evaluate the safety and efficacy of intravitreal bevacizumab ( avastin ) injection in patients with exudative age related macular degeneration ( AMD) . METHODS: The records of patients treated with intravitreal injection of 1. 75mg bevacizumab for AMD were retrospectively reviewed. All patients were evaluated by complete ophthalmic examination, optical coherence tomography and fundus fluorescein and/or indocyanine green angiography. Observation was made on the best corrected visual acuity ( BCVA) , intraocular pressure, and the changes of lens, vitreous, central retinal thickness (CFT) and total macular volume (TMV), at 1d, 3d, 7d, 1mo and 6mo after the treatment and then compared with those of pre - operation. Repeated treatment with intravitreous bevacizumab occurred if there were signs of persistent or recurrent exudation. And all cases were followed up at least 6mo. An intravitreal injection of bevacizumab (1. 75mg) was given once every 6wk. RESULTS:All 50 eyes of 48 patients with the average of 58±20. 46 years old were included. The mean baseline of BCVA and CFT were 0. 82±0. 53, and 364. 97±151. 83μm respectively. Although there was no significant decrease in mean CFT and TMV one week after the injection, the mean BCVA had significant improvement. At the last visit of 9. 7mo follow - up, BCVA, CRT and TMV showed significant improvements over baseline values. BCVA was improved by at least two lines in 32 eyes (64%),remained stabilization in 18 eyes (36%) at the last visit. A total of 98 injections were performed and the average number of injections was 1. 98 for each eye in the group. About 50%of re - injections gained at least two lines of vision improvement one week postoperatively. There were no serious adverse events during the treatment. CONCLUSION: Intravitreal bevacizumab ( avastin ) injection for managing CNV due to age-related macular degeneration is safe and few side effects. Intravitreal avastin associated with improvement in visual acuity ( VA ) , which can reduce macular edema and choroidal neovascularization leakage. But a prolonged treatment effect needs further observation.

Construction of a yeast two-hybrid cDNA library from the human testis / 中华男科学杂志

<p><b>OBJECTIVE</b>To construct a human testis cDNA library for yeast two-hybrid screening.</p><p><b>METHODS</b>Human normal testis mRNA was purified from total RNA, and ds cDNA was synthesized and amplified using primers SMART III and CDS III oligo (dT) as the base of recombination. The purified PCR products and linearized plasmid pGADT7-Rec were co-transformed into the competent yeast Y187 and recombined by yeast homologous recombinase in the yeast cells to form an active cyclic plasmid. All the clones growing on the SD/-Leu plates were harvested to constitute a human testis cDNA library.</p><p><b>RESULTS</b>We constructed a human testis cDNA library with high multiplication and adequate capacity, from which 2.0 x 10(6) recombinants were obtained. The amplified PCR fragments were between 0.3 kb and 4.0 kb in length.</p><p><b>CONCLUSION</b>The yeast two-hybrid cDNA library of human testis was successfully constructed by the Clontech SMART method, which has prepared a ground for further studies on the molecular mechanism of spermatogenesis.</p>

Screening PIAS2-interacting proteins in the mouse using the yeast two-hybrid system / 中华男科学杂志

<p><b>OBJECTIVE</b>To screen and identify PIAS2-interacting proteins from the mouse spermatogonial cDNA library using the yeast two-hybrid system, and to investigate the action mechanism of PIAS2 in spermatogenesis.</p><p><b>METHODS</b>With pGBKT7-PIAS2 as a bait plasmid, the positive clones interacting with pGBKT7-PIAS2 were screened from the mouse spermatogonial cDNA library, the inserted fragments were sequenced and underwent bioinformatic analysis, and their interaction was verified using the yeast two-hybrid system.</p><p><b>RESULTS</b>Through screening, sequencing, homology analysis and yeast two-hybrid verification, we obtained 8 different candidate proteins interacting with PIAS2, including Cyfip2, Psmb3, Nmel, nischarin, Ints10, Nsun5, Gnb211 and Ndufaf3.</p><p><b>CONCLUSION</b>Eight different genes were successfully obtained using the yeast two-hybrid system, and their encoding proteins interacted with PIAS2, which might be related with male fertility regulation. Our findings have offered some new clues to the action mechanism of PIAS2 in spermatogenesis.</p>

Inhibition of connective tissue growth factor overexpression decreases growth of hepatocellular carcinoma cells in vitro and in vivo / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>We have previously found that connective tissue growth factor (CTGF) is highly expressed in a rat model of liver cancer. Here, we examined expression of CTGF in human hepatocellular carcinoma (HCC) cells and its effect on cell growth.</p><p><b>METHODS</b>Real-time PCR was used to observe expression of CTGF in human HCC cell lines HepG2, SMMC-7721, MHCC-97H and LO2. siRNA for the CTGF gene was designed, synthesized and cloned into a Plk0.1-GFP-SP6 vector to construct a lentivirus-mediated shRNA/CTGF. CTGF mRNA and protein expression in HepG2 cells treated by CTGF-specific shRNA was evaluated by real-time PCR and Western blotting. 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide (MTT) assay was utilized to evaluate the growth effect, and a colony formation assay was used for observing clonogenic growth. In vivo, tumor cell proliferation was evaluated in a nude mouse model of xenotransplantation. Statistical significance was determined by t test for comparison between two groups, or analysis of variance (ANOVA) for multiple groups.</p><p><b>RESULTS</b>Immunohistochemical staining of CTGF was seen in 35 of 40 HCC samples (87.5%). CTGF was overexpressed 5-fold in 20 HCC tissues, compared with surrounding non-tumor liver tissue. CTGF mRNA level was 5 - 8-fold higher in HepG2, SMMC-7721 and MHCC-97H than in LO2 cells. This indicated that the inhibition rate of cell growth was 43% after knockdown of CTGF expression (P < 0.05). Soft agar colony formation assay showed that siRNA mediated knockdown of CTGF inhibited colony formation in soft agar of HepG2 cells (P < 0.05). The volume of tumors from CTGF-shRNA-expressing cells only accounted for 35% of the tumors from the scrambled control-infected HepG2 cells (P < 0.05).</p><p><b>CONCLUSIONS</b>CTGF was overexpressed in human HCC cells and downregulation of CTGF inhibited HCC growth in vitro and in vivo. Knockdown of CTGF may be a potential therapeutic strategy for treatment of HCC.</p>

Asymmetric dimethylarginine upregulates the expression of ACAT-1 in THP-1 macrophage-derived foam cells / 南方医科大学学报

<p><b>OBJECTIVE</b>To investigate the effects of asymmetric dimethylarginine (ADMA) on ACAT-1 expression and cholesterol content in THP-1-derived macrophages and foam cells.</p><p><b>METHODS</b>THP-1 cells were induced to differentiate into macrophages and further into foam cells. The macrophages and foam cells were exposed to different concentrations (0, 3.75, 7.5, 15, and 30 µmol/L) of ADMA for varying time lengths (6, 12, and 24 h), and the changes in ACAT-1 mRNA and protein levels in the cells were measured with RT-PCR and Western blotting. The cellular cholesterol content was measured with enzyme-linked colorimetry assay.</p><p><b>RESULTS</b>In THP-1-derived macrophages and foam cells, the expression levels of ACAT-1 mRNA and protein and cellular cholesterol content increased significantly in response to ADMA treatment in a time- and concentration-dependent manner.</p><p><b>CONCLUSION</b>ADMA may play an important role in inducing foam cell formation from macrophages. ACAT-1 inhibition targeting the macrophages and foam cells may serve as a potential therapeutic target in the treatment of atherosclerosis.</p>

Drug-resistance of Pseudomonas aeruginosa Isolated from Patients in Hospital / 中华医院感染学杂志

OBJECTIVE To investigate the change of antibiotics resistance of the Pseudomonas aeruginosa isolated from patients′s sputum in our hospital from Jan 2006 to Dec 2008,and offer basis for prevention of clinical infection and the reasonable use of drugs.METHODS The culture,identification and sensitivity to antibiotics of P.aeruginosa from the clinical sputum specimens were analyzed using USA VITEK-32 system.RESULTS Totally 196 strains of P.aeruginosa were isolated and characterized during the three years.The rates of resistance to cefoperazone/sulbactam were 18.37%,piperacillin/tazobactam 16.84%,netilmicin 17.35%,trimethoprim/sulfamesoxazole 100.00%,ampicillin 99.49%,cefazolin 99.49%,cefotetan 88.78%,and to ceftriaxone were 79.08%.The resistance rate to cephalosporins showed rising tendency.But the resistance rate to ?-lactam antibiotics showed deereasing tendency.CONCLUSIONS P.aeruginosa has single and multi-resistance to antibiotics seriously,but sensitive to ?-lactam antibiotics and aminoglycosides.Using antibiotics reasonably based on bacteria identification and sensitivity test is the best way to reduce the resistance of the pathogens.

Bacterial Distribution and Drug Resistance in Patients in Intensive Care Unit / 中华医院感染学杂志

OBJECTIVE To investigate the bacterial distribution and drug resistance in patients in intensive care unit(ICU) and provide theoretical bases for rational usage of antibiotics.METHODS The distribution and drug resistance of 372 strains isolated from patients in ICU collected from Jul 2007 to Jun 2008 were investigated and studied retrospectively.RESULTS Among them,the Gram-negative bacilli covered 59.14 %,the Gram-positive cocci 28.49%,and the fungi covered 12.37%.Pseudomonas aeruginosa,Klebsiella,Stenotrophomonas maltophilia and Ancinetobacter were the main Gram-negative bacilli.Staphylococcus aureus,coagulation-negative Staphylococcus and Enterococcus were the main Gram-positive cocci.The resistance rate of P.aeruginosa,S.maltophilia and Acinetobacter to imipenem was over 10%,and the S.maltophilia was 96.7%,the resistance rate of three main Gram-positive cocci to vancomycin and teicoplanin was zero,and the isolated bacteria showed serious multidrug-resistance.CONCLUSIONS Periodic monitoring should be done to learn the drug resistance and bacterial distribution in ICU in order to rationally use antibiotics to avoid the generation of new drug resistant strains and control the infection of patients in ICU.

Nuclear expression of S100A4 is associated with lymph node metastasis in gastric carcinoma / 中华胃肠外科杂志

<p><b>OBJECTIVE</b>To investigate the intracellular localization of S100A4 in gastric carcinoma cells and the relationship between S100A4 expression status and lymph node metastasis of gastric carcinoma.</p><p><b>METHODS</b>Western blotting analysis was performed to locate the expression of S100A4 protein in sub-fraction components of frozen tissues. S100A4 protein expression was also determined by immunohistochemical method in 131 samples of gastric cancer and 20 samples of matched metastatic lymph nodes.</p><p><b>RESULTS</b>Thirty-two of 131 (24.4%) gastric carcinoma showed positive S100A4 nuclear expression and 50/131 (38.2%) carcinoma showed positive cytoplasmic expression. In 32 samples with positive S100A4 nuclear expression, 30 (93.8%) carcinomas had positive lymph node metastases. S100A4 nuclear expression level was higher in gastric carcinoma with lymph node metastasis (29.1%) than that without lymph node metastasis (7.1%) (P=0.016).</p><p><b>CONCLUSION</b>Nuclear expression of S100A4 is associated with lymph node metastasis of gastric carcinoma.</p>

Observation on Therapeutic Efficacy of Western Medicine in Combination with Traditional Chinese Medicine for Treating Viralmyocarditis / 医学研究杂志

Objective To observe the therapeut ic efficacy of compound salviae m ilt io rrh igae inject ion and ast ragalus inject ion on viralmyocardit is.Methods 36 viralmyocardit patient' s were randomly divided into two groups :The control group was treated with Potassium Aspaytate and Magnesium Aspartate Injection 30ml+Insulin 8U added to 5% glucose solution 500ml and ATP 20mg+CoA 100 U+Vit C 500mg added to 10% glucose solution 30 ml for intravenous drip once daily;plus Chinese herbal medicine were taken orally in treatment group.Results The effective rates were 89.5% and 76.4% in treatment group and control group respectively.There was obvious difference between 2 groups(P

Study on the pretreatment of the series of HPD macroporous adsorption resin / 中国中药杂志

<p><b>OBJECTIVE</b>To develop a method for the pretreatment of the series of HPD macroporous adsorption resin (MAR).</p><p><b>METHOD</b>The effect of 2% NaOH to pretreatment of the series of HPD MAR was studied by gas chromatography and UV spectrometery.</p><p><b>RESULT</b>The eluting effect by ethanol was better after the MAR was marinated and eluted by 2% NaOH.</p><p><b>CONCLUSION</b>The pretreatment of the series of HPD MAR was: after marinated and eluted by 2% NaOH, the series of HPD MAR were eluted by ethanol at 2 BV x h(-1) at 60 degrees C for 3-4 bed volumes (BV). At then the UV absorbance of eluate was 0.2-0.5. Benzene was not detected and the other residues less than 10 mg x L(-1) in eluted-MAR by GC. And the MARs match to the standard of medicine.</p>

The Effect of Ginkgo on Interleukin4(IL-4) and Interleukin5(IL-5) in Serum of Asthmatic mice / 中国医师杂志

Objective To observe the effect of Ginkgo on IL-4,IL-5 in serum of asthmatic mice. Methods 40 mouse were randomly divided into three groups(control group, sensitization group, and therapeutic group). The mouse asthmatic models were established by sensitizing with aerosolized ovalbumin(OVA). IL-4,IL-5 in serum in 16 sensitization mouse and 8 control mouse were measured by ELISA, respectively. We injected 0.15ml Ginkgo solution in the abdominal cavity of 16 therapeutic mouse before the episode of asthma. After that, they were challenged with aerosolized OVA and IL-4,IL-5 in serum were measured by ELISA. Results The levels of IL-4,IL-5 in serum in control group were (12.965?2.450)pg/ml, (13.398?4.460)pg/ml, respectively, (16.889?4.835)pg/ml, (19.471?7.207)pg/ml in sensitization, (13.695?4.068)pg/ml, (14.774?5.749)pg/ml in therapeutic group. In the sensitization group, the levels of IL-4,IL-5 in serum were higher than those of the control group( P

Design of double ultrasound pulse transmitting and receiving circuits used in ultrasound thermometry / 中国医疗器械杂志

This paper introduces double ultrasound pulse transmitting and receiving circuits used in ultrasound thermometry. Using the circuits, double ultrasound pulses could be made synchronously to satisfy the requirements of ultrasound thermometry, and the weak ultrasound echo signals are received successfully. The crux experiment waveform offered shows that the circuits have high reliability.

The result of rehabilitation nursing of the patients with total hip replacement / 中国康复医学杂志

Objective:To understand the effect and significance of rehabilitation nursing of the patients with total hip replacement. Method:In view of the rehabilitation nursing procedure, functional training before and after the operation were performed in 34 cases with total hip replacement. Result:21 cases made completely recovery; 9 cases complete independent living ;3 cases almost independent living; l case partial dependent, and no complications. Conclusion: Scientific rehabilitation nursing plan can decrease the incidence rate of complications after the operation and promotes functional recover to patients with total hip replacement.