Identification of a novel MLC1 mutation in a Chinese patient affected with megalencephalic leukoencephalopathy with subcortical cysts / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To detect potential mutation of MLC1 gene in a child affected with megalencephalic leukoencephalopathy with subcortical cysts (MLC).</p><p><b>METHODS</b>Clinical symptoms of the patient were retrieved. Peripheral blood DNA samples from the patient, her parents and healthy controls were collected. Potential mutation of the MLC1 gene was detected by polymerase chain reaction and Sanger sequencing.</p><p><b>RESULTS</b>The patient presented with severe motor developmental delay and a giant skull. Magnetic resonance scan showed diffuse white matter swelling in bilateral hemispheres. DNA sequencing identified a novel homozygous c.177-c.180delC mutation of the MLC1 gene. The parents of the patient both carried a heterozygous mutation c.177-c.180delC but had a normal phenotype.</p><p><b>CONCLUSION</b>A novel MLC1 mutation c.177-c.180delC has been identified in a patient with MLC. The mutation is presumably disease-causing and has derived from parents who are both carriers.</p>

Comparison among different concentrations of nonionic iodinated contrast media in hysterosalpingography / 实用放射学杂志

Objective To compare the image quality and adverse effects among different concentrations of nonionic iodinated con-trast media in hysterosalpingography (HSG).Methods 99 female infertile patients were recruited in this study for HSG and were averagely divided into Group A,B and C.The application of contrast media were as follows:iomeprol injection(400 mg I/mL)for Group A,iopamidol injection (370mg I/mL)for Group B,iohexol injection(300 mg I/mL)for Group C.The image quality was in-dependently evaluated by two doctors using a 3-point scale (1 -3 score)and adverse effects were recorded.Results (1 )Scores of image quality:all images met diagnostic desire with (2.55±0.5 1)score in Group A,(2.42±0.50)score in Group B,(2.21±0.42) score in Group C.There were statistically significant differences among goups(H =7.790,P =0.022).Kappa values were 0.693 in Group A,0.687 in Group B,0.672 in Group C.(2)Adverse effects:4 cases in Group A(12.12%),3 cases in Group B(9.09%), 2 cases in Group C(6.06%),which showed no statistically significant differences(χ2 = 0.733,P =0.693).Conclusion The three kinds of concentrations of nonionic iodinated contrast media can all be applied in HSG.The higher of iodinated concentration,the better of image contrast.

Study on correlations between CT perfusion parameters and tumor angiogenesis of cervical cancer / 生物医学工程学杂志

This study was aimed to analyze the correlation between CT perfusion parameters, e. g. perfusion (PF), blood volume (BV), peak enhancement image (PEI), time to peak (TTP), and the microvessel density (MVD) of cervical cancer. CT perfusion scans were carried out in 31 patients with cervical cancer. After their surgical resections, we obtained 31 cases of cervical cancer specimens, and 15 cases of adjacent normal cervical specimens as control group, then these 46 specimens were used in MVD detection through immunohistochemical CD34 staining. The MVDs of the tumor group were significantly higher than those in the control group, and the former seems to increase with the clinical stages with a positive correlation. The PF and PEI values have positive correlations with corresponding MVD values. The PF value of squamous carcinoma group has correlation with corresponding MVD value. The PF and PEI values of poorly differentiated group have correlations with corresponding MVD values. The PF, PEI and BV values of II-III stage group are positively correlated with corresponding MVD values. The PF value of lymph metastasis or non-lymph metastasis group both have correlations with corresponding MVD values. We found that CT perfusion parameters were positively correlated with corresponding MVD values in cervical cancer. Our results suggest that CT perfusion is a new method which could reflect tumor angiogenesis, histological malignant grade, invasion, and clinical stage. It will help us determine the tumor staging and prognosis.

A comparison of the effectiveness of five types of hemostatic surgeries for intractable postpartum haemorrhage and the factors of failed hemostasis / 中华妇产科杂志

ObjectiveTo study the different clinical effects of using 5 kinds of hemostatic surgeries to manage the intractable postpartum hemorrhage and analyse the risk factors of failed hemostasis.Methods From Jan.2007 to Jul.2011,96 patients with intractable postpartum hemorrhage were studied retrospectively and grouped by the first step surgical treatment.The hemostatic surgeries included uterine tamponade (tamponadegroup ), pelvicbloodvessels ligation(ligationgroup), pelvical arterial embolization (embolization group), uterine compression sutures (sutures group)and uterine compression sutures combining tamponade (combined group).The intraoperative and postoperation datum were compared among groups,so dose the treatment outcomes.Multivariate analysis were used for failed hemostasis.Results( 1 ) The blood loss of 96 patients ranged from 1200 to 9100 ml,and 71 patients had a succeed hemoatasis after employing these surgeries and 25 failed.(2) The blood loss before hemostasis surgeries in tamponade group and embolization group was statisically greater than in sutures group ( P ＜ 0.05 ).Blood loss during the hemostasis surgeries in ligation group was statistically greater than in embolization and sutures groups ( P ＜0.05).The operating time of embolization group was statistically shorter than ligation group,sutures group and the combined group (P ＜ 0.05 ).(3) Fine of 96 patients had uterine atony and 43 had a successful hemostasis with the success rate about 78％.Forty-six had placenta previa and 39 success with success rate 85％.Thirty-three had placenta accrete and 13 of which succeed in hemostasis with success rate about 39％.In patients with uterine atony and placenta previa,the difference of hemostasis rate in groups had no statistically significant ( P ＞ 0.05 ).In patients with placenta accrete,the hemostasis rate in embolization group was higher than in others groups (P ＜ 0.01 ). (4) The multivariate analysis found that scar uterus,placenta accrete and coagulation defects were the risk factors of failed hemotasis.The OR value respectively was 2.9 (95 ％ CI:1.1 - 7.6 ),17.9 ( 95 ％ CI:5.6 - 56.3 ) and 16.2 ( 95 ％ CI:3.2 - 83.5 ).Embolization had some extent of protective effection ( OR =0.9,95 ％ CI:0.8 - 0.9 ).Conclusions ( 1 ) Five kinds of hemostatic surgeries were all effective.Though the success rate among groups did show statistical difference,pelvical arterial embolization has the comparative advantage of shorter operating time,less operating blood loss and higher success rate in placenta accrete.(2) Since scar uterus,placenta accrete and coagulation defects were the risk factors of failed hemostasis,sufficient preparation should be made for patients with these risk factors and the hemostatic surgeries should be choosed individually.

Comparative study between right ventricular septal pacing and right ventricular apical pacing / 中国医师进修杂志

Objective To explore the feasibility and safety of right ventricular septal pacing with active fixation electrodes.Methods This was a randomized and control clinical trial.Patients implanted with pacemaker were randomly divided into two groups.One group underwent the right ventrieular high septal pacing with the active fixation electrodes(RVS group),and the other group underwent the right ventricular apical pacing with the passive fixation electrodes(control group).The parameter was recorded in two groups in and after operation and compared accordingly.Results (1)There were no significant differences in the procedure time between two groups[averaged(59.6±3.2)and(60.2±3.7)minutes respectively].But the time of exposing X-ray was significant longer in RVS group.(2)There was no significant difference in acute implanting measurement,except perioperative and postoperative threshold 1 month in RVS group was higher than that in control group(P＜0.05 or＜0.01).After 3 months,there was no significant difference.(3)Impedance decreased significantly in 1 month and 3 months in RVS group[P＜0.01 or＜0.05).(4)There was no difference in R-wave sensing between two groups.(5)After 100%pacing,the mean QRS duration Was shorter in RVS group,but the difference was not significant.(6)Operations in two groups came off smoothly and there were no complications.Conclusion It is feasible and secure to pace from RVS with active fixation electrodes.