Objective To study the molecular pathogenesis of non -syndromic deafness in a Chinese family . Methods Clinical materials and DNA sample were obtained from the non -syndromic family with autosomal reces‐sive deafness .The exons and the flanking splicing sites of GJB2 and SLC26A4 were tested in all family members by PCR and direct sequencing .Results There were four deafness patients in the family ,and three of them had the same clinical phenotypes ,including prelingual profound sensorineural hearing loss and enlarged vestibular ,while the re‐mained one only presented to be prelingual profound sensorineural hearing loss without malformation of temporal bone .One type of GJB2 mutation and 3 different types of SLC26A4 mutations were identified in the family .The proband(Ⅲ -1) ,her sister(Ⅲ -2) ,her mother(Ⅱ -4) and her father(Ⅱ -3) carried different biallelic mutations which were SLC26A4 c .919 -2A > G/p .H723R ,p .Q413R/c .919 -2A > G ,p .Q413R/p .H723R and GJB2 c . 235delC/c .235delC ,respectively .Conclusion Different from most reported deafness families with the same molecu‐lar etiology in each one ,interestingly ,the pathogenies were different among all affected members in this family . They were caused by different biallelic mutations of SLC26A4 or GJB2 .

Objective:To identify the function of the 5′-flank upstream regulation region of human CD226 gene.Methods:The upstream regulation region of CD226 was cloned by PCR and ligated into pGL3 vector. Then the vector was transfected into Jurkat cell and luciferase activity was detected after 48 h culture.Results:CD226 gene may have two promoters, P1 and P2,which were located at the region of -843--319 bp and +1-+181 bp respectively, and PMA can up-regulate P1 while down-regulate P2. Both P1 and P2 can be up-regulated by A23187, especially P2.Conclusion:CD226 gene may have two promoters, and PMA and A23187 can regulate CD226 promoter activity in the similar pattern of protein level.

BACKGROUND:Conventional prosthetic vessel replacement has been gradually replaced by endovascular covered stent graft exclusion in the treatment of abdominal aortic aneurysm (AAA).However,whether it has advantages over conventional prosthetic vessel replacement in clinical curative effects and biocempatibility produced in the implantation of new type of biomaterials remains unclear.OBJECTIVE:To compare the curative effects and complications of endovascular covered stent graft exclusion and prosthetic vessel replacement in the treatment of AAA.DESIGN: A controlled observation analysis.SETTING: Department of Vascular Surgery,Wuhan nion Hospital.PARTICIPANTS: Forty-two patients with AAA (renal artery not involved) who received the treatment in the Department of Vascular Surgery,Union Hospital,Tongji Medical College,Huazhong University of Science and Technology between September 2001 and July 2006,were recruited in this study.They were all confirmed by CT angiography (CTA) and other examinations.According to the selected operative way,patients were allocated into interventional therapy group (n =17) and conventional therapy group (n =25).In the interventional therapy group,the patients,including 16 males and 1 female,were averaged (68±10)years old,and their mean tumor diameter was (6.4±1.3) cm.In the conventional therapy group,the patients,including 23 males and 2 females,were averaged (64±9) years,and their mean tumor diameter was (6.2±1.1) cm.Significant difference did not exist in the baseline material between two groups (P ＞ 0.05).This study was approved by the Hospital Ethics Committee.Written informed consents were obtained from all the patients.METHODS:In the interventional therapy group,patients underwent ndovascular covered stent graft exclusion by an interventional means.After being generally anesthetized,patients were dissected at unilateral femoral artery.Under the perspective condition,a covered stent graft was placed at a proper position with a forwarder,and then it was released and expanded.Following the position and xpansion of a covered stent being examined by CTA,femoral artery was anastomosed and incision was closed.If arteria iliaca was involved,then another covered stent was implanted from contralateral femoral artery and connected to stem.In the conventional therapy group,patients underwent prosthetic vessel replacement by a conventional means.Postoperatively,patients in the two groups all received anti-inflammation,anti-coagulation and other symptomatic and supportive treatments necessarily.MAIN OUTCOME MEASURES:① Postoperative complications of patients in two groups.② Recovery was observed by B-ultrasonography and CTA examination 1,3,6 and 12 months after operation.③ Follow-up of biocompatibility of biomaterials and host during 1 year postoperatively.RESULTS:Forty-two patients participated in the finial analysis.①Patients who exhibited pulmonary infection and renal function deterioration in the interventional therapy group were fewer than those in the conventional therapy group (P ＜0.05).② In the interventional therapy group,patients with covered-stent graft displacement,aortic injury and hematoma formed at the puncture point of femoral artery were not found.In the conventional therapy group,one patient died of acute large-area myocardial infarction at the 6th week postoperatively,and patients,who suffered from stomal leakage,prosthetic vessel thrombogenesis and infection,etc.,were not found.③ Neither obvious inflammatory reactions in the peripheral tissue of prosthetic vessel nor thrombogenesis in the prosthetic vessel was found in patients of two groups.It was demonstrated that both covered stent graft and prosthetic vessel had good biocompatibility.CONCLUSION:Endovascular covered stent graft exclusion can treat AAA due to its less surgical trauma,rapid postoperative recovery,good biocompatibility and other advantages.

0.05).This study was approved by the Hospital Ethics Committee.Written informed consents were obtained from all the patients.METHODS:In the interventional therapy group,patients underwent endovascular covered stent graft exclusion by an interventional means.After being generally anesthetized,patients were dissected at unilateral femoral artery.Under the perspective condition,a covered stent graft was placed at a proper position with a forwarder,and then it was released and expanded.Following the position and expansion of a covered stent being examined by CTA,femoral artery was anastomosed and incision was closed.If arteria iliaca was involved,then another covered stent was implanted from contralateral femoral artery and connected to stem.In the conventional therapy group,patients underwent prosthetic vessel replacement by a conventional means.Postoperatively,patients in the two groups all received anti-inflammation,anti-coagulation and other symptomatic and supportive treatments necessarily.MAIN OUTCOME MEASURES:① Postoperative complications of patients in two groups.② Recovery was observed by B-ultrasonography and CTA examination 1,3,6 and 12 months after operation.③ Follow-up of biocompatibility of biomaterials and host during 1 year postoperatively.RESULTS:Forty-two patients participated in the finial analysis.①Patients who exhibited pulmonary infection and renal function deterioration in the interventional therapy group were fewer than those in the conventional therapy group(P

Objective To Investigate the disorder of colonic epithelium apoptosis and proliferation as well as its role of the epithelial barrier break down in ulcerative colitis(UC). Methods Fifty biopsy specimens were obtained endoscopically from 35 patients of UC and 15 controls respectively.The specimens were used for diagnosis of UC and investigation of epithelium proliferation an d apoptosis by IHC with markers of ki－ 67 and M30 respectively. Results Apopto sis index(marked by M30) and ratio of apoptosis to proliferation increased obvio usly in UC compared with the controls(P0.05);Disorder of epithelium apoptosis an d proliferation take place in UC.Apoptosis cells were found not only at luminal surface but also at the base of crypt;however,proliferation cells may extend to superior part of the crypt. Conclusion Unlimited and premature apoptosis as wel l as disorder of apoptosis to proliferation is maybe one of the causes which lea ding to breakdown of the epithelial barrier function i n UC.

Objective To investigate the serum superoxide dismutase( SOD) ,malondialdehyde ( MDA) , and nitric oxide( NO) level in generalized anxiety disorder ( GAD) patients for exploring the importance of oxida?tive stress in etiology of GAD. Methods 42 cases of first episode patients with GAD ( GAD group) and 42 cases of health ( control group) matched with age and gender were included . Serum levels of SOD,MDA ,and NO were tested to analyze for a control study.Results GAD patients had significantly higher levels of SOD,MAD and NO than health controls ((858.09±137.32)×102 U/L vs (745.40±119.19) ×102 U/L;(10.92±3.42)mmol/L vs (7.52±2.32)mmol/L;(74.32±12.34) μmol/L vs(65.22±14.29) μmol/L), t=4.036,5.368,3.297;P=0.000, 0.000,0.003) . A positive relationship between SOD and total score of Hamilton Anxiety Scale( HAMA ) ,psychotic anxiety factor of HAMA,or somatic anxiety factor of HAMA was found in GAD group ( r=0.331,0.370,0.318;P=0.029,0.016,0.040).The level of MAD correlated with total score or psychotic anxiety factor of HAMA( r=0.311, 0.320;P=0.042,0.039).Conclusion It is suggested that the dysfunction of oxidative stress may play a role in pathogenesis of generalized anxiety disorder.

19.6),normal group(BMI=14.2～19.6)and underheight group(BMI

Objective To observe the changes of bone mineral density (BMD) in young boys and girls from 6-19 years old in Beijing area. Methods 1 139 healthy young boys and girls undergoing whole body scanning with dual energy X-ray bone densitometer were divided into different groups according to sex and age. Results There were no significant difference in body height, weight, BMD and bone mineral contents (BMC) between boys and girls from 6 to 10 years old. The annual growth rates of body height, BMD, and BMC were the fastest in girls from 6 to 14 and boys from 6 to 16 years old, respectively. Thereafter, the annual growth rates of body height, BMD, and BMC didn't significantly increase in boys and girls. There were two fast-growth periods in BMD growth stage, being at 11 and 14 years old in girls, and at 12 and 15 years old in boys. The total body BMD was significantly correlated with the height in girls under 12 years (P

Objective To observe the changes of bone mineral density (BMD) of boys and girls from 12 to14 years old in the urban areas and the suburbs of Beijing.Methods 613 middle school students were divided into the city group and the suburbs group, and whole body scanning was performed with dual energy X-ray bone densitometer.Results The values of BMD of the boys and girls in the urban areas were significantly higher than that in the suburbs (P

Adult ; Aggressive Periodontitis ; diagnosis ; diagnostic imaging ; therapy ; Combined Modality Therapy ; Dental Scaling ; Female ; Humans ; Orthodontics, Corrective ; Radiography ; Tooth Loss ; diagnosis ; diagnostic imaging ; therapy