OBJECTIVE: To study mutations in the GJB2 gene in Kazak patients with nonsyndromic hearing impairment from Xinjiang. METHOD: One hundred and ninety-three cases of Kazak from the Xinjiang region, including 97 cases of hearing loss and 96 cases of normal people, were performed mutational analysis of the GJB2 coding region by PCR-direct sequencing. RESULT: Eight kinds of mutation were found in the encoding region of hearing impairment group:12 cases of 35 delG homozygous, 5 cases of 79G>A homozygous, 8 cases of 79G>A heterozygous, 1 case of 79G>A heterozygous and 608T>C heterozygous, 5 cases of 79G>A heterozygous and 341A>G heterozygous, 4 cases of 235 delC heterozygous, 2 cases of 341A>G heterozygous, 1 case of 439T>G heterozygous, 1 cases of 457G> A heterozygous, 2 cases of 521G>A homozygous. Four kinds of mutations found in the normal group were confirmed as common polymorphic mutation. CONCLUSION The study suggests that the GJB2 gene mutation of the Kazak deaf population in Xinjiang has ethnic and regional characteristics. There is a rather high carrier frequency of GJB2 mutation of Kazak patients in Xinjiang. In this study the 35 delG mutation is a common mutation of Kazak patients.
Adolescent ; Adult ; Child ; Child, Preschool ; China ; Connexin 26 ; Connexins ; genetics ; Deafness ; genetics ; Ethnic Groups ; genetics ; Humans ; Infant ; Mutation ; Young Adult

Acid Phosphatase ; metabolism ; Animals ; Fatigue ; physiopathology ; Glucuronidase ; metabolism ; Male ; Mitochondria, Heart ; metabolism ; pathology ; physiology ; Mitochondrial Membrane Transport Proteins ; physiology ; Motor Activity ; physiology ; Physical Exertion ; physiology ; Random Allocation ; Rats ; Rats, Sprague-Dawley

Adult ; Female ; Granular Cell Tumor ; Humans ; Nasal Septum ; pathology ; Nose Neoplasms

Objective:To analyze the biomechanical stress distribution on the sagittal fractured of the mandibular condyle(SFMC) fixed by double plates in 3 different ways.Methods:The fixation finite element models with double straight plates(SS),one straight and one L-form plates(SL),and double L-form plates(LL)were established.The biomechanical stresses on condyle were calculated with finite element analysis.Results:In the model of SS fixation the maximum equivalent stress (MES),maximum total displacement (MTD)and maximum total corner(MTC)of condylar stump were 525.475 MPa,0.902 2 mm and 0.260 1°;MES,MTD,and MTC on fractured free-end were 4.425 MPa,0.882 7 mm and 0.019 9°,respectively.In the model of SL fixation MES,MTD and MTC on condylar stump were 1 135 MPa,0.9367 mm and 0.126 1°;MES,MTD and MTC on fractured free-end were 2.656 MPa,0.887 1 mm and 0.016 9°,respectively.In the model of LL fixation MES,MTD and MTC on condylar stump were 2 208 MPa,0.923 8 mm and 0.172 2°;MES,MTD and MTC on fractured free-end were 14.66 8 MPa,0.876 6 mm and 0.018 1°,respectively.Conclusion:Double L plates fixation is a proper way for SFMC.

ObjectiveTo investigate the effects of nitric oxide synthase (NOS) genetic transfection on the intimal hyperplasia of venous autografts. MethodsThe external jugular veins were autografted into abdominal aorta arteries in 20 Wistar rats, which were divided evenly into experimental or control groups. The transplanted veins of experimental group were immersed in the adenovirus-mediated eNOS gene solution for 15 minutes just before anastomosis. The transplanted vascular samples were taken out 2 weeks after operation. The intimal thickness(IH), degree of restenosis(DR), expression of PCNA and NOS mRNA were determined with histology and transcription polymerase chain reaction (PCR). ResultsThe IH, DR and PCNA decreased, while the expression of eNOS mRNA increased comparing with control group(P<0.01). ConclusionTransfection of NOS gene can inhibit the intimal hyperplasia of venous autografts.

OBJECTIVETo explore the intervention effect and the possibly mechanism of the glutamine (Gln) on the opening change of the permeability transition pore (PTP) in the myocardial mitochondrial membrane under the overtraining state.

METHODS30 SD rats were randomly divided into 3 groups (n = 10): control group (CG group), overtraining group (OG group) and supplementary (Gln) + overtraining group group). Spectrophotometry was used to test the openness of the permeability transition pore in the myocardial mitochondrial membrane. Electrochemistry was used to test the malondialdehyde (MDA) and the glutathione (GSH) content and the phospholipase A2 (PLA2) activity.

RESULTSOG group compared with the GOG group, the absorbance (A0) and the absorbance change (Delta A) were decreased significantly (P < 0.05). Rh123 fluorescence (F0) intensity was significantly increased (P < 0.05). Rhodamine123 (Rh123) fluorescence change (delta F) was significantly decreased (P < 0.05). Compared with the GOG, the mitochondrial GSH was significantly decreased (P < 0.05), the PLA2 activity and the content of MDA were significantly increased (P <0.05).

CONCLUSIONOvertraining could lead to opening increase of permeability transition pore in the myocardial mitochondrial membrane, after overtraining, the production of the reactive oxygen species (ROS) and PLA2 activity were increased, GSH content was decreased. But added exogenous Gln had a significant intervention effect for these changes.

Animals ; Glutamine ; pharmacology ; Glutathione ; metabolism ; Male ; Mitochondria, Heart ; drug effects ; physiology ; Mitochondrial Membrane Transport Proteins ; metabolism ; Mitochondrial Membranes ; drug effects ; physiology ; Myocardium ; metabolism ; Permeability ; Rats ; Rats, Sprague-Dawley ; Reactive Oxygen Species ; metabolism

Objective To investigate the difference between the blood pressure readings between sitting and supine position,and to study the factors that associated with the sitting-supine blood pressure difference in patient with diabetes.Methods We measured the sitting blood pressure first then followed by the supine pressure in 356 diabetic patients,using a standard mercury sphygmomanometer.Patient's body weight,height and blood glucose levels were also measured.Results SBP and DBP were significantly higher in the supine position than in sitting position in diabetic patients(by 3.5?7.6/1.5?4.9 mm Hg,P

Objective To explore the changes of Sema3A and it′s receptor Npl in temporal lobe epilepsy(TLE)rat brain and the roles in epileptogenesis mechanism.Methods TLE model was established with male healthy SD rats,in which mossy fiber sprouting(MFS)was verified using Neo-Timm staining method.Sema3A mRNA,Npl mRNA and protein was respectively analyzed by immunohistochemistry and in situ hybridization in the entorhinal cortex(EC)or dentate gyrus(DG)at different time after LiCL-PILO induced TLE.Results There were Mossy fiber sprouting(7d:0.70?0.42,15d:1.50?0.52,30 d:2.20 ?0.41,60 d:2.50?0.51)in DG inner molecular layer(IML)of TLE rat compared with those of controls (P

0.05).After treatment,in neuromus- cular electric stimulation therapy group and ice-massage therapy group,SSA scores and degrade of SaO_2 were improved. There was significant difference between before and after treatment(P

Animals ; Calcium ; metabolism ; Cell Line ; Cricetinae ; Cricetulus ; Dose-Response Relationship, Drug ; Fibroblasts ; drug effects ; metabolism ; Vehicle Emissions