Objective To study the gene mutation and clinical characteristic of hereditary spinocerebellar ataxia type 7 (SCA7).Methods The SCA7 (CAG) trinucleotide repeat mutations were detected by polymerase chain reaction(PCR) and polyacrylamide gel electrophoresis technique in 24 patients with autosomal dominant SCA from 15 families, 20 sporadic SCA patients and 41 normal persons from the same family and 30 healthy persons from different family,the abnormal allele fragments were sequenced by ABI 373 DNA sequencing machine.Results 24 patients with SCA had CAG repeat numbers of SCA 7 allele from 9~18.Normal alleles of SCA 7 had CAG repeat number from 9 to 19. One sporadic SCA patient had one abnormal SCA 7 allele with the CAG repeat expanded to 63 repeats, being confirmed by DNA sequencing.Conclusion CAG expansions were pathogenic cause of SCA 7. The technique of gene mutation detection could provide an effective way for the prediction of asymptomatic and genetic counseling,which was a basis for gene typing.

Background and purpose:Zhongshan City is one of the areas with the highest NPC incidence worldwide and nationwide. Although its incidence rate had been analyzed thoroughly, but its mortality rate was not studied further until now. This study was to explore NPC mortality status in Zhongshan City from 1970 to 2010, and to provide scientiifc information for its control and prevention.Methods:NPC death data in Zhongshan City from 1970 to 2010 came from Zhongshan Cancer Registry Ofifce. Such indices as its death number, crude rate, age standardized rate (ASR) and truncated rate etc were calculated and analyzed. Results:There were 5 267 NPC death cases in Zhongshan City from 1970 to 2010, its crude world ASR and truncated rates were 11.03/105, 12.34/105 and 29.31/105 respectively. Its world ASRs increased before 1999 but no statistical signiifcance (P=0.64) and decreased thereafter with obvious statistical signiifcance (P=0.001). But overall, there were a decreasing trend for its ASRs (P=0.001) from 1970 to 2010 in Zhongshan City. Moreover, NPC mortality rate in male was remarkably higher than in female, the death peak age was 55-59 age group, and the different age groups were with different trends fro 1970 to 2010. Conclusion:Although with declining trend from 1970 to 2010, NPC mortality rate in Zhongshan City was at high level worldwide. It suggested that NPC control and prevention should be enhanced.

Objective To investigate the effect of laparoscopic varicocele high ligation on the semen parameters of patients with unilateral varicocele associated infertility.Methods A total of 56 cases of unilateral varicocele with infertility treated in our hospital from March 2014 to March 2016 were recruited into this study,who were all recepted laparoscopic high ligation.The content of lactic dehydrogenase isoenzyme X(LDH-X),semen fragmentation rate(DFI) and other seminal plasma were observed and compared before surgery and 3 months after surgery.Results The ratio of LDH-X in seminal plasma and whole sperm,DFI and LDH-X of seminal plasma before laparoscopic varicocele high ligation were significant higher than those after surgery,LDH-X of whole sperm was lower than that after surgery,the differences were significant(P<0.05).Sperm concentration,sperm motility,survivability of sperm,and sperm forward progression percentage before laparoscopic varicocele high ligation were significant lower than those after surgery.Conclusion The quality of semen,the content of LDH-X and sperm DNA integrity of unilateral varicocele with infertility could be improved by laparoscopic high ligation of the internal cord vein.

BACKGROUND: Using color Doppler ultrasonography, renal graft size, appearance, structure, and blood flow distribution can be observed. Through the use of blood flow display technique, blood flow perfusion of renal graft can be accurately observed to assist diagnosis and differential diagnosis of complications following renal transplantation. OBJECTIVE: To observe the hemodynamic characteristics during different periods of acute renal transplant rejection, summarize its specific manifestations through analyzing different reaction of two dimensional and color Doppler flow imaging (CDFI) during renal transplantation in order to get valuable index on acute rejection of renal transplantation.DESIGN, TIME AND SETTING: Comparative observation was performed at the Jinan University and First Hospital of Shenzhen University between January 2003 and January 2007.PARTICIPANTS: A total of 299 patients undergoing renal transplantation were divided into normal allograft group (n=236) and acute rejection group (n=63) according to renal allograft function.METHODS: The systolic peak flow rate, end-diastolic flow rate, mean flow rate, pulsatility index and resistance index of main renal artery and arcuate artery in patients of two groups were compared. MAIN OUTCOME MEASURES: Renal allograft arterial inner diameter and hemodynamics of two groups.RESULTS: Compared with normal allograft group, the blood flow perfusion was reduced at acute rejection, which could not reach cortex margin, blood velocity was decreased at the diastolic phase, pulsatility index and resistance index were increased (P < 0.05). CONCLUSION: Color Doppler ultrasound, as a convenient, economical and noninvasive technique, provides the reliable evidences for the renal artery pulsatility index and resistance index in clinic, and also is valuable for the acute rejection early diagnosis of renal allograft.

Objective To evaluate the efficacy and toxicity of the combination of gemcitabine and cisplatin in the treatment of patients with advanced non-small cell lung cancer (NSCLC). Methods A total of 30 cases of non-small cell lung cancer (stages Ⅲ and Ⅳ) were treated with gemcitabine (1 200 mg/m 2, iv infusion, at 1 and 8 d) and cisplatin (100 mg/m 2, iv infusion, at 1 d or cisplatin at 30 mg/m 2, iv infusion, at 1 and 8 d). The administration course was 28 d. Results An objective response was obtained in 46.67% of patients (2 complete and 12 partial responses), whereas 11 patients had no change and 5 patients were progressive. The response rate was 52.38% in patients with no prior chemotherapy and the response rate of 33.33% was achieved in patients who had been given prior treatment. There was significant difference between the two groups (P

Objective To study the mechanism of multicellular drug resistance of pulmonary adenocarcinoma cell line A549 mediated by cell-cell adhesion. Methods We compared the sensitivity of monolayer cells (MCs) to adriamycin (ADM) with that of multicellular spheroids (MCSs) which was employed as a three dimensional cell culture model. Transmission electron microscopy was applied to observe the cellular ultrastructure. Bcl-2, Bcl-xL, and Bax expression levels were detected by flow cytometry and indirect immunofluorescent staining. Results Compared with MCs, MCSs had more than two layers of cells, more extensive and compact cell adhesion, and inlay junctions were found within them. MCSs were more resistant to ADM. At the same time, Bcl-2 and Bcl-xL expressions in MCSs were much higher. After treatment with ADM, expressions Bcl-2 and Bcl-xL increased markedly in MCSs. Conclusion MCSs could simulate the solid tumors in vivo and has multicellular drug resistance mediated by cell-cell adhesion. The possible mechanisms may be associated with the upregulation of Bcl-2 and Bcl-xL.

Objective To explore an optimal model of three dimensional in vitro cell culture for simulating solid tumors in vivo . Methods The model of three dimensional cell culture was constructed under the conditions of inhibiting the cell wall attachment and stirring the medium. Multicellular spheroids (MCS) were cultured using microcarriers (CutiSpher). Drug sensitivity of monolayer cells (MC) and MCS was tested by MTT staining and cytometry, respectively. Ultrastructures of the MC and MCS were observed by transmission electron microscopy. Results Cells in three dimensional cell culture model without microcarriers were compacted into mass at 4 d while cells in MCS were found to attach to the microcarriers at 0.5 h. MCS had more than two layers of cells growing within it at 5 d. Compared with MC, MCS was more resistant to the anticancer drug, and had more plenty of organell and microvilli with more extensive and compact cell adhesion. Conclusion MCS has strong developmental properties and can simulate the cell cell interactions in vivo , especially cell adhesion, which may contribute to the drug resistance of MCS.

Objective 　Determination of Wilson disease gene mRNA expression in human fibroblast cell strain (Me32aT22/2L) by reverse transcription-polymerase chain reaction (RT-PCR). Methods　Using lipofection reagent, the plasmid vector carrying the Wilson disease gene (pRc/CMV-WD) was transferred into Me32aT22/2L cultured in serum free complement medium. RT-PCR was used to determine WD mRNA expression in Me32aT22/2L. Results　 Wilson disease gene expression was detected in Me32aT22/2L, while no specific signals were detected in untransfected fibroblast. Conclusions　It demonstrated that Me32aT22/2L strain could express the Wilson disease gene, suggesting that Wilson disease gene transfer might develop a new approach to study Wilson disease.

Objective To analyze corpus uteri epidemiology in selected cancer registering areas of China during 2003-2007,and to provide scientific information for its prevention and control in China.Methods The incident and mortality data of corpus uteri cancer in 32 cancer registering areas of China with better quality during 2003-2007,which were selected according to the criteria of and provided by National Center for Cancer Registration,were analyzed.Results There were 8850 new cases and 1559 death cases of corpus uteri cancer,which accounted for 2.96％ ( 8 850/299 306 ) of all female new cancer cases and 0.94％ ( 1 559/166 305) of all female cancer death cases,respectively.Corpus uteri cancer was the 9th most common cancer for all new female cancer cases which world age adjusted incidence rates was 5.04/105,and 19th most common cancer for all female cancer death cases which world age adjusted mortality rate was 0.83/105 in 32 selected cancer registering areas of China during 2003-2007.Zhongshan city,Guangzhou city in Guangdong province and Beijing were the areas with the highest incidence rates in which were 14.51/105,8.51/105 and 6.69/105,respectively.Zhongshan city in Guangdong province,Dafeng city in Jiangsu province and Feicheng city in Shandong province were the areas with the highest mortality rates,in which were 4.03/105,3.19/10s and 1.65/105 respectively during 2003-2007.There were increasing trends for its incidence rates in above 32 areas during 2003-2007,its world age adjusted incidence rates increased from 3.94/105 in 2003 to 5.56/105 in 2007 ( P =0.026 ),while its urban world age adjusted incidence rates increased from 4.57/105 in 2003 to 6.18/105 in 2007 (P =0.038),and rural rates increased from 1.74/105 in 2003 to 3.01/105 in 2007 ( P =0.013 ),and the results showed that urban areas obviously higher than rural areas ( P ＜ 0.01 ).Although there was a slow increasing trend for its world age adjusted mortality rates in above 32 areas during 2003-2007 which increased from 0.64/105 in 2003 to 0.87/105 in 2007 ( P =0.214 ),and from 0.66/105 in 2003 to 0.88/105 in 2007 in urban areas ( P =0.340 ),and from 0.57/105 in 2003 to 0.83/105 in 2007 in rural areas( P =0.070),while increasing trends without statistical significance.But mortality rates in urban areas were obviously higher than those of rural areas (P ＜0.01 ).Conclusions Although the world standardized incidence and mortality rates of corpus uteri cancer were at low level worldwide,there were increasing trends for its incidence rates during 2003-2007 in the 32 selected cancer registering areas of China.Moreover,its incidence and mortality rates were at high level worldwide in some areas such as Zhongshan city of Guangdong province and Dafeng city of Jiangsu province during the period,in which suggested that its prevention and control should be enhanced.

Objective To identify the risk factors for early postoperative cognitive dysfunction (POCD) in the elderly patients undergoing spinal surgery.Methods One hundred and fifty ASA Ⅱ or Ⅲ patients,aged ≥65 yr,undergoing elective spinal surgery under general anesthesia,were studied.Venous blood samples were taken at 1 day before operation and 7 days after operation to determine the concentration of serum S-100B protein.Cognitive function was assessed by Mini-Mental State Examination (MMSE) at 1 day before operation and 7 days after operation.The patients were diagnosed as having POCD if MMSEpre-MMSEpost ≥ 3.The patients were divided into POCD group and non-POCD group.Age,body weight,sex,education,type of operations,complications,preoperative TCM syndrome type,MMSE score at 1 day before operation and 7 days after operation,duration of operation,emergence time,and intraoperative blood loss,cardiovascular events,and amount of fluid infused per hour were recorded.The risk factors for POCD were analyzed using multivariate logistic regression analysis.Results Thirty-eight patients developed early POCD (25.3％).The resuhs of logistic regression analysis showed that age ≥ 70 yr,elementary education or below,duration of operation ≥5 b,and the number of hypotension occurred during operation≥3 were the risk factors for early POCD.Conclusion Age≥70 yr,elementary education or below,duration of operation ≥ 5 h,and the number of hypotension occurred during operation ≥ 3 are the risk factors for early POCD in the elderly patients undergoing spinal surgery.