Objective:To examine mitochondrial DNA mutations in mitochondrial encephalomyopathy.Methods:Three cases of mitochondrial encephalomyopathy were examined by HE staining,histochemical staining methods and electron microscopy.The mutations in mitochondrial genome were studied by polymerase chain reaction /restriction enzyme digestion. Results: The three cases were diagnosed as mitochondrial encephalomyopathy.The examinations revealed that patient 1 and 2 had a heteroplasmic A3243G mutation in tRNA~(leu) gene,and patient 3 had a heteroplasmic A8344G mutation in tRNA~(lys) gene.Conclusion:tRNA gene mutations of mtDNA might be one of the etiologies of mitochondrial encephalomyopathy.

Objective Two autosomal recessive forms of muscular dystrophy:LGMD2B and Miyoshi myopathy may be indused by dysferlin gene mutation.The purpose of this study was to define molecular defects in dysferlin gene in a family with Miyoshi myopathy.Methods mRNA from peripheral blood in a Chinese Miyoshi myopathy pedigree was amplified by RT-PCR and the mutation was determined by sequencing the amplified products.Results The results of sequencing revealed a novel homozygous mutation,a 6429delG,on exon 53 of the dysferlin gene for the patients.Conclusion The 6429delG mutation in the dysferlin gene of patients creates a frameshift mutation which induces a stop codon at 2035 on exon 54 and the premature dysferlin contributes to the Miyoshi myopathy in the Chinese pedigree.

Objective To explore the relationship between Lp (a)level and age,gender in Nanjing area.Methods 8 442 ser-um specimens from examination individuals were collected in the First Affiliated Hospital of Nanjing Medical University in 2014.Lp (a)was measured by immune turbidimetry method.All the subjects were divided into six groups:15~29,30~44, 45~59,60~69,70~79 and ≥80 years old.SPSS21.0 software was used to carry out statistics.Results The Lp(a)level in female [134±197 mg/L (M±QR,the same below)]was higher than that in male significantly (U =8 355 137,P <0.001). LP (a)levels from people of different sex correlated with the age weakly (r =0.154,P <0.001),and increased with age groups.Lp(a)of six groups in male were 106.5± 151.0,119.0± 170.0,128.0± 179.0,159.0±206.0,145.0±200.0 and 162.0± 190.0 mg/L respectively.The difference was statistically significant between between 1 and 2 groups,2 and 3 groups,3 and 4 groups,theU value were 645 152.5,1 006 572.0,197 595.0 respectively;P all<0.05.The difference was not statistically significant between 4 and 5 groups,5 and 6 groups,3 and 4 groups,theU value were 59 127.0 and 15 959.5 respectively,P >0.05.Lp(a)of six groups in female were 128.0 ± 194.0,128.0 ± 187.0,139.0 ± 207.0,157.0 ± 228.0, 173.5±227.0 and 150.0±201.0 mg/L.The difference was statistically significant between 2 and 3 groups,theU value was 641 147,P =0.006,respectively.The difference was not statistically significant between 1 and 2 groups,3 and 4 groups,4 and 5 groups,5 and 6 groups,theU value were 783 676,92 442.5,16 069.5 and 3 038,respectively;P all>0.05.Conclusion Lp (a)level in healthy population in Nanjing area is related to gender and age groups,it is necessary to establish different reference ranges.

Objective To evaluate differences of serum bone gamma-carboxyglutamic-acid-containing protein (BGP)levels be-tween different gender in the middle-aged and elder population and the correlation between serum BGP and osteoporosis,as well as the correlation between BGP and other bone metabolic markers.Methods The study population consisted of 270 health care middle-aged and elder people,who were excluded malignancy and chronic diseases,during 2011 January to Au-gust.Of all the Recipients,101 cases were male,aged 50 to 89 years,with a median age of 68 years old,female 169 cases, aged 50 to 89 years,with a median age of 64 years.Bone density were measured by absorptiometry and was evaluated by the T index values.Serum BGP,25-hydroxyvitamin D,calcium and phosphorus were measured by different assays systems.The different level of BGP between genders was also analyzed by Mann-Whitney test.Correlation between BGP and serum calci-um,phosphorus,25-hydroxyvitamin D,osteoporosis risk index were analyzed Spearman rank correlation analysis.Results T value,BGP,25-hydroxy vitamin D,calcium and phosphorus levels range of 270 cases were-3.5~-0.7 (median-1.6 ng/ml),3.59~264.90 ng/ml (median 12.84 ng/ml),4.0~34.0 ng/ml (media 10.5 ng/ml),1.79~2.69 mmol/L (median 2.36 ng/ml),0.43~2.89 mmol/L (median 1.12 ng/ml),respectively.BGP levels in the female groups were significantly higher than the male groups.Serum concentration of BGP was positively correlated with serum phosphorus,but the serum BGP with calcium,25-hydroxy vitamin D,age and osteoporosis risk indices were not correlated.Conclusion In the elder groups,female BGP levels were significantly higher than male,the gender factor should be considered in the clinical applica-tion of BGP.Since BGP and osteoporosis risk index T had positive correlation,those two tests can be combined to evaluate osteoporosis.

Objective To study the course of different cervical nerve segments and their related intervertebral foramen’s size so as to increase safety and decrease complications in microinvasive surgery for cervical syndrome. Methods Fifteen human cervical specimens (30 sides) were anatomically observed for the course, branches and distribution of cervical nerves. Results The diameter of intervertebral foramen ranges from 0.54 to 0.65 cm, and increases gradually from top to bottom. The vertical diameter and anteroposterior diameter between C4, C5 and C6 vertebrae are smaller, and those between C3 and C7 are larger, but the diameter line of nerve root in intervertebral foramen from up to down gradually increases. The anteversion angle between nerve root and spine cord on horizontal plane is from 15? to 19?, within a small variation, while the declination angle on coronal plane gradually decreases from C3 to C7. There exist plenty of anastomosis branches among the cervical dorsal rami. Conclusion In the range of 0.6 cm around articular process at the entrance of intervertebral foramen, it is the narrowest part, the removal of which may alleviate the pressure on nerve root and benefit spinal stability. Because of the general existence of anastomosis branches of cervical nerve, the symptoms of cervical syndrome are not completely consistent to innervation. The intervertebral foramen between C4, C5, C6 is relatively small and the diameter line of nerve root is comparatively large, so the nerve root at C4, C5, C6 is most likely to be pressed.

Objective: To develop a reporter gene system based on transient transfections with a NF-?B responsive reporter gene to detect the bioactivity of IL-1? and IL-1 receptor antagonist.Methods: NF-?B reporter and Dual-Luciferase assays were applied to measure the bioactivity of IL-1? and IL-1 receptor antagonist in mouse EL4 cells(some subclones of EL4 cells expressed high level of IL-1 receptor on cell surface).pNF-?B-luc and pRL-TK, used as an internal control,were co-transfected into EL4 cells and then the IL-1? was added.Results: The results indicated that IL-1? was able to induce the expression of this luciferase,which could be blocked by IL-1 receptor antagonist. The optimal dose of IL-1? was 5(?g/L) in Dual-Luciferase assay,whose bioactivity can be effectively inhibited by IL-1ra at 50 ?g/L.Conclusion: We have established a new method to detect the bioactivity of IL-1? and IL-1 receptor antagonist,which can give repeatable results.

Objective To evaluate the association between parameters of heart rate turbulence (HRT) and the severity of the coronary arteries disease. Methods 60 patients with unstable angina pectoris (UAP) who under-went angiographic examination and 40 healthy controls were chosen. HRT including turbulence onset (TO), turbu-lence slope (TS) and turbulence dynamicity (TD) were determined by 24 h ambulatory electrocardiogram(Hoher) in all the patients. The value of above indices were compared between UAP group and control group,and between subgroups of UAP. The correlation of HRT with the severity of coronary arteries diseases was analyzed. Results The levels of TO and TD in patients with UAP were significantly higher than those in controls [(1.18±0.88) % vs lower TS (P<0.05) and higher TD (P<0.05 ) than those in patients with coronary single vessel lesion. The same -0.296, P<0.05 ) and coronary artery stenosis score (r=-0.372, P<0.05 ) ; TD was positively correlated with number of abnormal coronary artery (r=0.353, P<0.01 ) and coronary artery stenosis score (r=0.510, P < 0.05). Conclusion . HRT is impaired in patients with UAP,especially the changes of TS and TD is signflcant,and is correlated with the severity of coronary arteries disease. TD is not influenced by premature ventricualr contractionheart rate so the combinatoin of TD and TS might be used as objective index in predicting the severity of the coronary arteries disease.

Objective To investigate the effects of hemolysis on glycated albumin (GA) determined by ketoamine oxidase method and its correction.Methods GA concentration and hemolytic parameter(optical density,A) in non-hemolytic serum and different degree hemolytic serum samples were measured.The impact of hemolysis on GA and the relationship between hemolysis and GA were analysed.A formula was developed to correct the interference of hemolysis on GA measurement using regressive Multiple analysis.Results Compared with non-hemolytic serum,hemolysis resulted in the significantly decreased concentrations of GA detected by ketoamine oxidase method(P ＜ 0.01),which were significantly associated with the degree of hemolysis (R2 =0.943 4).Y and Z represented GA concentration of non-hemolytic serum and different degree hemolytic serum,while X represented optical density of hemolytic parameter.Formulas for GA measurement were presented:Y =2.468X + Z-0.015 73,GA concentrations of hemolytic samples can be reverted to the values without statistical difference from the GA concentration in corresponding non-hemolytic samples.The bias of corrected GA was less than 10％.Conclusion Our results indicate that the level of GA measured through ketoamine oxidase method is negatively affected by hemolysis.The formula of mathematical correction of GA results in hemolytic samples should be suitable for the requirements of clinical laboratory.

OBJECTIVE: To report the current situation of dialysis and transplantation in Foshan City. METHODS: A total of 18 hospitals performed dialysis filled the registration forms, which comprised situations of hospital, staff establishment, blood purification developing, blood purification equipments, hemodialysis patients, peritoneal dialysis patients, and acute renal failure patients. The registration time was form the beginning to ending of 2007, and the information was statistical analyzed.RESULTS: Totally 18 hospitals in Foshan district performed hemodialysis and 6 of them offered peritoneal dialysis simultaneously. There were 155 hemodialysis machines, 6 CRRT machines, and 15 dialyser reuse devices. Totally 1 718 patients received dialysis in 2007 year, including 93.60% hemodialysis patients and 6.40% peritoneal dialysis patients. Until the end of 2007, 1011 patients were received dialysis treatment, including 90.60% hemodialysis and 9.40% peritoneal dialysis. Glomerulonephritis (47.1%) was still the first primary disease of dialysis, then diabetic nephropathy (28%), third arteriosclerosis nephropathy (9.7%), fourth obstructive nephropathy (3.2%). Totally 743 hemodialysis patients stopped treating for reasons of death, improvement or recovery, changed to peritoneal dialysis, kidney transplantation, transfer, economics and lost follow-up, accounted for 20.3%, 20.1%, 7.2%, 4.1%, 21.5%, 20.2% and 6.6%, respectively. Cerebrovascular disease, cardiovascular disease, infection, dystrophy, synthetic factors and other were the main reasons for death, which accounted for 16.6%, 28%, 17.2%, 3.2%, 18.4% and 16.6%. A total of 16 patients stopped peritoneal dialysis for death (68.7%), improvement or recovery (18.7%), changed to hemodialysis (7.1%), or lost follow-up (6.3%). The causes of death were cerebrovascular disease (21.4%), cardiovascular disease (7.1%), infection (28.6%) and others (42.9%).CONCLUSION: There are 18 hospitals can perform dialysis treatment in Foshan district. Glomerulonephritis, diabetic nephropathy, arteriosclerosis nephropathy and obstructive nephropathy are the first four primary diseases of dialysis. Cerebrovascular disease and infection are the main causes of death.