OBJECTIVE: Investigate common deafness gene mutations in patients with severe and profound non-syndromic hearing loss in Liaoning in order to understand their hereditary etiologies and characteristics at the molecular level. METHOD: Peripheral blood samples were obtained and the DNA templates were extracted from 128 non-syndromic hearing loss patients who are sporadic in clinics. The deafness gene chip was applied to detect hot-spot deafness gene mutations including GJB2, GJB3, SLC26A4 and mitochondrial 12S rRNA. Deafness etiology questionnaires, pure tone audiometry, auditory brainstem response, tympanometry and temporal bone CT were also applied. RESULT: Various types of gene locus mutations were seen in 52 of the 128 patients (40.6%); (1) GJB2 gene mutations (n=22) included c. 235 del C homozygous mutation (n=10), c. 235 del C heterozygous mutation (n=5); c. 176_191 del 16 heterozygous mutation (n=l); c 35 del G heterozygous mutation (n=l); c. 235 del C/c. 299_300 del AT mutation (n=l), c. 235 del C/c. 176_191 del 16 mutation (n=l), c. 35 del G/c. 176_191 del 16 mutation (n=l); c. 299_300 del AT/c. 919-2 A>G mutation (n=l), c. 235 del C/c. 919-2 A>G mutation (n=l). (2) SLC26A4 gene mutations (n=30) included c. 919-2 A>G homozygous mutation (n=6), c. 919-2 A>G heterozygous mutation (n=17), c. 2168 A>G homozygous mutation (n=l), c. 2168 A>G heterozygous mutation (n=2), c. 2168 A>G/c. 919-2 A>G mutation (n=2), c. 919-2 A>G/GJB2 c. 235 del C mutation (n=2); (3) No GJB3 and mitochondrial 12S rRNA mutation. Genetic deafness was confirmed at the gene level in 24 cases (18.8%) and 28 patients (21.9%) were diagnosed as carriers of genetic deafness gene mutations. CONCLUSION Genetic deafness occupies a large population in deaf community in Liaoning. Molecular genetic screening for these mutations and genetic counseling are effective methods to prevent the occurrence of hereditary hearing loss and provide theoretical guidance.
Adolescent ; Child ; Child, Preschool ; China ; Connexins ; DNA Mutational Analysis ; Deafness ; genetics ; Female ; Genetic Testing ; Humans ; Infant ; Male ; Mutation

The antioxidant activity of lycopene is highest among the current carotenoids.Recently the researches on lycopene are focused on ingredient of functional foods in the world.The fermentation production of lycopene by Streptomyces rimosus was reported first time in China.The determination methods,such as spectrophotometric method and HPLC were constructed.Using a stain Fc of Streptomyces rimosus as a original strain,a high-yield lycopene producing mutant strain Fc' was selected after UV mutation.The lycopene yield of the strain is 2.5 times higher than the original strain Fc.The optimal fermentation conditions were determined by flask experiments,and the lycopene yield of strain Fc' reached 230mg/L in flask under the optimal fermentation condition,meanwhile the Streptomyces rimosus strain could produce purer lycopene without adding any blocking agents in its fermentation process.This results lay a good foundation for lycopene commercial production by fermentation using Streptomyces rimosus.

Objective To investigate the chronic angio-complications of diabetes mellitus(DM)and impared glucosetolerance(IGT)patients were diagnosticated newly.Methods 46 patients with diabetes mellitus and 97 pa- tients of impared glucosetolerance were chosen in the study,and 35 patients were chosen as normal glucose tlerance group.Some biochemical criterion,carotid artery intima-media thickness and plaque condition were measure.Results The group of IGT contract coronary heart disease is 62.9 %,cetebrovascular disease is 20.6%,carotid artery atheromatosis is 50.5 %,the group of DM contract coronary heart disease is 65.2%,cerbrovascular disease is 26,1%,carotid artery atheromatosis is 69.6%,it have statistics significance compared with control group(P

Objective To discuss the methods of selecting different shapes occluder and to evaluate the feasibility,safety and efficacy of them in transcatheter closures of congenital ventricular septal defect (VSD) in children.Methods Transcatheter closures were performed in 226 children with congenital VSD,age ranging from 2 to 14 years(mean 5.62 years) under the guidance of transthoracic echocardiography(TTE) and fluoroscopy.There were 14 patients with intracristal VSD,209 patients with perimembranous VSD and 3 patients with muscular VSD.Left ventriculography and transthoracic echocardiography were performed repeatedly after the procedure to assess the effect of occlusion.The echocardiography and electrocardiography were scheduled before discharge,1,6 and 12 months for the follow-up.Results The occluders were deployed successfully in 211 patients.The successful rate was 93.4%.Thin waist shape occluders,were deployed in 7 patients;equal side shape occluders,were deployed in 191 patients;eccentric shape occluders were deployed in 12 patients,and muscular defect occluders were deployed in 1 patient.There were no complications encountered during or after closure.Conclusions It is very important in transcatheter closure of congenital in children to select different shape occluder according to pathologic characteristics.In general,equal side shape occluder is suita-ble for a large number of defect and it is easy for deployment.In some conditions,the other shape occluder may be necessary.

Objective To observe the effect of meisoindigo on co-culture leukemic cells and bone marrow stromal cells.Methods Bone marrow stromal cells were cultured using bone marrow mononuclear cells from patients with leukemia,and built the co-culture leukemic cells and bone marrow stromal cells.Trypan-blue-exclusion test detected the proliferation of leukemic cells.The expression levels of membrane CXCR4 on leukemic cells were assessed by flow cytometric analysis.Results Bone marrow stromal cell of leukemia could inhibit leukemic cells proliferation,leukemic cells could be promoted their growth when exposed to low concentration (5 μmol/L) of meisoindigo.Abnormal high expression of CXCR4 in leukemic cells,and meisoindigo could markedly inhibit the expression of CXCR4 in HL-60 and del leukemic cells.Expression of CXCR4 in leukemic cells can up-regulated by bone marrow stromal cells from patients with leukemia.Conclusion Meisoindigo can down regulate expression of CXCR4 in leukeimic cells to antileukemic cells.

Objective To explore the correlation between plasma asymmetric dimethylarginin(ADMA) and essential hyper‐tention(EH) by comparing the difference of plasma asymmetric dimethylarginine levels between Kazak and Han patients with EH in Xinjiang .Methods 91 Kazak and 112 Han patients with EH were selected .81 Kazak and 110 Han healthy people were selected as healthy control groups .The plasma ADMA levels in EH groups and the control groups were measured by using the reverse phase‐high performance liquid chromatography (RP‐HPLC) .Meanwhile the liver function ,renal function ,blood lipids ,blood glucose and fructosamine were measured .Results Kazak and Han patients with EH had higher levels of plasma ADMA than the control groups (P<0 .01);there was a positive correlation between the plasma ADMA and blood pressure levels of EH patients in two na‐tionalities(r=0 .715 ,P<0 .01 for Kazak ;r=0 .645 ,P<0 .01 for Han) .Conclusion Both Kazak and Han patients with EH have higher levels of ADMA than the respective healthy control group in Xinjiang .The correlation between the plasma levels of ADMA and EH existed ,which indicate that ADMA might be involved in the occurrence and development of EH .

Objectives By measuring left ventricular diastolic function and arterial stiffness,this study aims to probe into the effect of diabetes mellitus(DM) on left ventricular diastolic function and arterial stiffness,and evaluate the correlation between left ventricular diastolic funotion and arterial stiffness.Methods Seventy-six inpatients were enrolled.According to their coronary angiography,OGTF test results and past history of DM,patients were divided into controlled,CHD(coronary heart disease with no DM),and CHD+DM groups.Through invasive hemodynamic monitoring during left ventricular angiography,left ventricular end-diastolic pressure(LVEDP)and tan index were collected.Carotid-femoral pulse wave velocity(c-f PWV),reflected wave augmentation index (AIx@75) and other data reflecting the degree of arterial stiffness were collected bedside with non-invasive means.SPSS 18.0 was used for statistical analysis.Results No significant difference was found between groups for LVEDP,tau index,and AIx@75.In terms of c-f PMV,The CHD+DM group(8.79±1.59)cm/s differed significantly from the CHD group (7.43±1.42)cm/s and the controlled group(6.83±1.14)cm/s.No correlations were found between c-f PMV and LVEDP or tau index.A positive correlation was found between AIx@75 and tau index.Conclusions Compared with the controlled group and CHD patients with no DM,CHD+DM patients show worse arterial stiffness with no difference in ventricular diastolic function.There is a positive correlation between arterial stiffness and diastolic dysfunction.

Objective:To observe the pathological changes of VX2 implanted breast cancer ablated by high intensity focused ultrasound (HIFU) in rabbits. Methods:Thirty-six rabbits implanted VX2 breast carcinoma were randomly divided into treatment group (n=24) and control group (n=12) two weeks after implantation. HIFU ablation was performed in the treatment group guided by ultrasound B. The pathological changes were observed under light microscope after hematoxylin-eosin staining and then observed under electron microscope. The activity of succinate dehydrogenase (SDH) was measured. Proliferating cell nuclear antigen (PCNA) was determined by immunohistochemistry. Results:Histopathologic observation found that the morphological features and nucleus karyotypes of tumor cells had no significant changes, but vacuole-like structure appeared in cytoplasm. Typical coagulation necrosis of tumor cells were observed under electron microscope. SDH activity detection showed that tumor cells were inactivated. The expressions of PCNA was positive in control group and negative in treatment group. Conclusion:Electron microscopy, enzyme property test, and immunohistochemistry verified that VX2 implanted breast cancer cells were dead after HIFU ablation in rabbits.

Objective To study the relationship between self-esteem and childhood abuse, life events among male violent adolescent. Methods According to the modified overt aggression scale, juvenile delinquents were divided into violent group (n = 128 )and nonviolent group (n = 118 ). All the participants were investigated by Self-Esteem Scale (SES), Childhood Trauma Questionnaire-28 Item Short Form (CTQ-SF) and Adolescent SelfRating Life Events (ASLEC) and conducted correlation and regression analysis. Results ①Violent group had lower self-esteem scores ( 22.73 ± 3.30 ) than the nonviolent group ( 23.81 ± 3.30, P ＜ 0.05 ). Violent group had higher scores in physical abuse, sexual abuse, total life events, interpersonal relationship, punishment, and other (8.30 ±4.07, 7.23 ±2.26, 54.48 ±18.60, 10.09 ±3.84, 14.43 ±5.87, 4.93 ±3.15, 9.93 ±3.64), compared to the nonviolent group (7.27 ± 3.27, 6.60 ± 2.09, 45.40 ± 18.45, 8.42 ± 4.13, 11.07 ± 5.75, 3.66 ±2.81, 7.84 ±3.66, P＜0. 05). ②The self-esteem was significantly negative correlated with the childhood abuse and life events( r= -0. 143 ～ -0. 358, P＜ 0.01 ) among violent male adolescents. ③The physical abuse and punishment had significant prediction function of 15.6% on self-esteem. Conclusions Violent adolescents have low self-esteem, which is closely related to childhood abuse and adolescent life events.

ificantly lower than in both middle and low group(P＜0.05).Conclusion TP may improve the antioxidant ability of experimental aging mice.