Meckel-Gruber syndrome is a rare,fatal disease.The rate of natal morbidity worldwide is from 1/140 000 to 1/13 250.With the development of ultrasound and molecular diagnosis technology,especially the emergence of the third generation of in vitro fertilization (IVF) and prenatal genetic diagnosis (PGD),it is possible for the genetic carriers to solve the fertility problems.In this review,the recent insight of Meckel-Gruber syndrome diagnostic criteria,possible pathogenesis and differential diagnosis of other diseases were discussed.Through the introduction of the disease,it is hoped to improve clinical understanding of the disease and remind the clinicians pay more attention to rare genetic disorders.It is helpful to improve the ability of the clinical diagnosis of the disease and other rare genetic disorders,and provide eugenic counseling and clinical guidance to the affected families.

Objective To study the out come of coblation arytenoidectomy combined with true and false pos-terior cordectomy for treatment of bilateral vocal cord paralysis (BVFP) .Methods The group included 17 patients (8 incomplete BVFP and 9 complete BVFP) .All the patients had waited more than 6 months before surgery with no spontaneous recovery .The patients underwent arytenoidectomy combined with true and false posterior cordecto-my using coblation under video suspension laryngoscope .Electric fibrolaryngoscope was performed before and after operation to evaluate the size of the glottis .The patients'voices were recorded before and after operation and evalua-ted by 3 laryngologists through GRBAS .Results Preoperational laryngoscope showed that in the incomplete BVFP ,the vocal folds were close to the middle line with limited abduction .In the complete BVFP ,the vocal folds failed in adduction and abduction and the size of the glottis was 2 -3mm .3 of the patients had underwent tracheotomy . Post operational electric fibrolaryngoscope showed proximate triangulate breathing space which was more than 4mm in the posterior glottis .The patients were followed up 6 to 44months .15 of the 17 were allowed for decannulation . One patient among them underwent posterior cordectomy and arytenoidectomy on the contralateral side respectively after the first operation because of dyspnea owing to scar diathesis .Two patients bunged up the canula but did not de-cannulate .Among them one was a 8-year old boy diagnosed as congenital heart disease .One was thyroid cancer with stiff neck due to radiology .The only postoperative complication was the appearance of granulations in the operation region in 2 patients ,which were disappeared spontaneously .Quality of the voice improved in 2 patients ,unchanged in 10 and worsened in 5 .Conclusion This study demonstrates that arytenoidectomy associated with posterior cord-ectomy is a satisfactory surgical treatment of bilateral vocal fold paralysis because it leads to a considerable and stable enlargement of the breathing space and preserved the voice quality .

Objective To evaluate the effectiveness of multiple quantitative fluorescence PCR ( QF-PCR) as a rapid technique for prenatal diagnosis of common chromosome aneuploidies , in order to optimize the prenatal diagnosis and shorten the period of diagnosis.Methods Totally 731 amniotic fluid samples of pregnant subjects ,who were referred to the Women′s Hospital School of Medicine Zhejiang University during August 2013 and September 2015, were analyzed with conventional karyotype and the QF-PCR technique by short tandem repeat(STR) markers to detect chromosomes 13,18,21,X and Y aneuploidies.There were 558 samples detected by single blind method , 173 samples detected by double blind method.Results All of the 731 amniotic fluid samples were tested in this study by QF-PCR and the results were compared to the conventional cytogenetic analysis results of the same sample.Totally 558 samples with single blind method detected 5 trisomy 21, 2 trisomy 18, 1 trisomy 13, 1(45,X), 1(47,XXY), 1(47,XYY), 1(47,XXX) and 1(69,XXX), 173 samples with double blind method detected 1 trisomy 21 and 1 trisomy 18.The rapid QF-PCR assay was successful to detect all aneuploidies involving chromosomes 21, 18, 13, X and Y in prenatal diagnosis , which were verified by chromosome karyotype analysis.The results of QF-PCR method were compared with the results of chromosome karyotype analysis , the positive rate was 15/16, the negative rate was 100%(715/715).Non chimeric chromosome abnormality detection rate was 15/15.Conclusions The multiple QF-PCR was a reliable method of detecting common chromosome aneuploidies for rapid prenatal diagnosis.As an important supplement of karyotype analysis , it was of great significance to optimize and improve the prenatal diagnosis system , and might provide more appropriate diagnostic methods for pregnant women.

Objective To observe the efficacy and safety of Shuxuetong injection with edaravone in treatment of acute cerebral infarction.Methods 70 patients of acute cerebral infarction were ramdonly divided into two groups:treatment group was done with Shuxuetong injection and edaravone,and the control group was treated by xiangdan.Two groups were treated with routine therapy.ESS and ADL content change in two groups were assessed at different point before treatment and two weeks after treatment.Results The scores of ESS of two groups increased after treatment(P

OBJECTIVE To investigate the influence of short hairpin RNA targeting human telomerase reverse transcriptase(hTERT)on inhibition of telomerase activity and on expression of protein c-myc in nasopharyngeal carcinoma cells. METHODS Plasmid shRNA1 containing fluorescein gene and hTERT cDNA sequences were synthesized. Cells were transfected with plasmid shRNA1. The cell viability was examined using the MTT assay. The activity of telomerase was tested by polymerase chain reaction telomeric repeat amplification protocol- enzyme-linked immunosorbent assay (PCR-TRAP- ELISA),protein c-myc expression was tested by western blot. RESULTS It was observed that treatment with pshRNA1 in the presence of a valid transfection reagent could significantly reduce telomerase activity and the expression of protein of c-myc. CONCLUSION Inhibition of telomerase activity or expression of hTERT mRNA in nasopharyngeal carcinoma cells could inhibit cells proliferation and reduce the expression of protein of c-myc.

BACKGROUND: It is indistinct that whether ketamine can exert antinociceptive effect througb influencing the transmission of nocuous information in spinal cord; Nitric oxide (NO) in spinal cord participates mainly in the formation and development of hyperalgesia, and it can also induce Fos protein expression. It is still controversal whether it contributes to the transmission and mediation of ketamine to pain signal.OBJECTIVE: To observe the response to formalin stimulation in spinal cord of the rats and the effect of ketamine.DESIGN: Balanced randomized animal trial.SETTING: Department of Anesthesiology, Affiliated Hospital of Xuzhou Medical College; Jiangsu Provincial Key Laboratory of Anesthesiology.MATERIALS: This trial was carried out in the Jiangsu Provincial Key Laboratory of Anesthesiology, Xuzhou Medical College from January to March 2000. Totally 30 Sprague-Dawley rats were chosen and balanced randomized into 6 groups: formalin group (n=6), formalin + ketamine group (n=6), ketamine +formalin group (n=6), ketamine group (n=6), formalin+normal saline group (n=3) and normal saline group (n=3). The gender ratio was the same in each group.METHODS: Formalin group:The rats were stimulated for one hour by subcutaneous injection of 0.05 volume fraction of 200 μL in the center of palm of unilateral fore-claw. Formalin +ketamine group: The rats were stimulated for 10 minutes by formalin, then for one hour by intraperitoneal injection of 100 rg/kg ketamine. Ketamine + formalin group: The rats were injected with ketamine for 10 minutes, then with formalin for one hour. Ketamine group: the same dosage of ketamine was intraperitoneally injected into the rats for one hour. Formalin + normal saline group: The rats were stimulated for 10 minutes by formalin, then intraperitoneally given 10 mL/kg normal saline for one hour. Normal saline group: the same volume of normal saline was intraperitoneally injected into the rats for one hour.MAIN OUTCOME MEASURES: ① Behavioral performance of the rats in each group. ② Spinal sections were chosen, and stained with c-fos genetic immunohistochemical and NADPH-d histochemical methods. The changes of the number of Fos-like immuno-positive neurons (FLI) and FLI/nitric oxide synthase (NOS) double-labeled neurons in the 4-layer sections (layer Ⅰ -Ⅱ ,layer Ⅲ-Ⅳ ,layerⅤ-Ⅵ ,layer Ⅶ-X )of spinal dorsal horn of the rats were observed.RESULTS: All the thirty rats entered the stage of result analysis. ① Behavioral changes: The rats of formalin group and formalin+ normal salinegroup had apparent pain response; Several minutes after injection with ketamine, righting reflex disappeared and did not recover at perfusion period.Prolonged sleep was found without obvious pain response performance. ② FLI neuron expression: A lot of FLI positive neurons were found in the spinal dorsal horn of injec tion side of the rats in the formalin group and formalin+ normal saline group, and they distributed principally in the layer Ⅰ - Ⅱ of spinal dorsal horn.The distribution in the ketamine + formalin group and formalin + ketamine group was basically similar to that in the formalin group and formalin + normal saline group, but positive neuron counts were significantly reduced (P ＜ 0.01). ③ The expression of FLI/NOS double-labeled neurons: The number of double-labeled neurons in the spinal dorsal horn layer Ⅰ - Ⅱ of the rats in the ketamine+ formalin group and formalin+ ketamine group were significantly less than that in the formalin group and formalin+normal saline group [(1±1), (1±1), (7±3), (8±3),P ＜ 0.01].CONCLUSION: Some neurons of ipsilateral corresponding spinal segments participate in the transmission and mediation of pain signal. Ketamine can suppress the activities of these neurons and exert antinociceptive effect. The antinococeptive function of ketamine may be caused by the activity depression of the NOS-positive neurons in spinal cord.

[Objective] To construct a database for the genetic polymorphism of 18 STR loci (D8S1179, D21S11, D7S820, CSFIPO, D3S1358, TH01, D13S317, D16S539, D2S1338, D19S433, VWA, TPOX, D18S51, D5S818, FGA, PentaE, PentaD, SE33) in Hart population from Zhejiang province. To investigate the application of 18 STR loci in the field of paternity testing and prenatal diagnosis. [Methods] Fluorescent dye labeling multiplex STR-PCR, capillary electrophoresis and DNA sequencer GeneScan were adopted in genotyping 598 unrelated samples collected from Han population in Zhejiang province. 18-STR database was established and analyzed. Population comparison was conducted between Han population in Zhejiang province and 8 other population. 15-STR and 18-STR identification system were compared in 497 paternity testing cases. [Results] We observed the distribution of 18 STR loci in Han population meet Hardy-Weinberge equilibrium and was different from other 8 population (X~2 test, P>0.05). Statistical results showed that the heterozygosis (He) ranged from 0.630 to 0.942. The combined power of discrimination was>0.9999999999. Compared with 15-STR identification system, higher paternity index scores and higher exclusion rate were obtained with 18-STR identification system in dual-case paternity test and mutation identification. One trisomy 21 fetus was found in a prenatal paternity test case which had two characteristic genotypes in 2 STR loci of D21S11 and Penta D. [Conclusions] The 18 loci were relatively highly genetic polymorphic in Zhejiang Han population and could be used for paternity testing. Some STR loci could be used in prenatal diagnosis for aneuploidy.

It is imperative for hospital administrators to make unremitting efforts to control medical quality, the most important aspect of hospital management. The authors give an account of the specific plans and measures for setting up the framework of whole process control of medical quality and put forward some suggestions for dealing with the results of medical quality control and assessment. They also sum up their experience as follows: ①attention by the leading group constitutes the fundamental guarantee of medical quality improvement; ②social supervision may spur medical workers to take initiatives in standardizing their medical behavior; ③making full use of the results of assessment is the key to quality control.

Objective To evaluate the safety and therapeutic effect of covered expandable metallic stent placement combined with interventional chemotherapy in treating malignant esophago-tracheal fistulae. Methods A total of 60 patients with esophago-tracheal fistula were enrolled in this study. The patients were randomly divided into control group (n=28) and study group (n=32). Patients of the control group were treated with covered stent implantation only, while patients of the study group were treated with combination use of covered stent implantation and interventional chemotherapy. All the patients were followed up regularly, the short-term and long-term results were determined, and the effect rate, median survival time and complications were statistically analyzed. Results Among the 60 patients, successful obstruction of the fistula was obtained in 58 with a success rate of 96.7%. The median survival time of the 58 patients was 5.8 months. The median survival time of the control group and the study group was 3.6 months and 8.7 months respectively, the difference between the two groups was statistically significant (P<0.05). The one-month, 3-month and 6-month effect rates were 78.1%, 68.8% and 62.5% respectively. The incidence of esophageal stent re-stenosis in the study group was much lower than that in the control group. Conclusion The combination use of covered stent implantation and interventional chemotherapy can effectively improve the median survival time of patients with malignant esophago-tracheal fistula, and reduce the occurrence of stent-related complications. Therefore, covered expandable metallic stent placement combined with interventional chemotherapy is an effective and safe treatment for malignant esophago-tracheal fistulae.

Objective To evaluate the distribution of fetal abnormal chromosome karyotype in mid-pregnancy and analyse the possible misdiagnosis risks of molecular techniques in clinical prenatal diagnosis.Methods Fetal karyotype ( fetal cell collected from amniotic fluid ) in Prenatal Diagnosis Center of Zhejiang Province between 2001 and 2010 were retrospectively analyzed on distribution according to 7 different referral indication:positive screening for trisomy 21, trisomy 18, advanced maternal age , abnormal history of pregnancies , abnormal family history , fetal structural abnormalities and others.The combination of trisomy 21, trisomy 18 and trisomy 13 ( T21/18/13 Group) and the aneuploidies of chromosome 21, 18, 13, X, Y (21/18/13/X/Y Group) were further analyzed based on the current molecular target detection range.Results There were 462 cases out of 12 481 with chromosomal abnormality (3.60%, 462/12 841), with 215 cases of high risk (detection rate 1.67%, 215/12 841) and 247 cases of low risk (detection rate 1.92%, 247/12 841).Under different indications , the detection rate on abnormal chromosome of high risk (high-risk CA) is different,“abnormal fetal ultrasound” is the highest(27.27%,24/88).Among the high-risk CA, T21/18/13 Group accounted for 72.56%(156/215), while the 21/18/13/X/Y Group accounted for 94.88%(204/215).For the 7 regular indications , the high-risk CA distribute different;Except the T21/18/13 Group and 21/18/13/X/Y Group, the rates of other abnormal chromosome karyotype in the high risk CA were 0.28%( 2/719 )-12.5%( 11/88 ) and 0.06%( 4/6 915 )-1.14%( 1/88 ) according to different indication, respectively.Conclusions The distribution of abnormal karyotype were different under different referral indication;the detection power and possible misdiagnosis risks were varied under different indication for each molecular technique.It was suggested that doctors should select suitable molecular technique according to different clinical indications and each molecular method has its own limitations .