Objective To localize the gene of a Chinese autosomal-dominant non-syndrome deafness (DFNA) family by linkage analysis. Methods Pedigree was drawn after genetic investigation. All family members were checked up, and detail audiology examination proceeded (including pure tone audiometer, acoustic immittance measurement, auditory brainstem response). Vestibular function was evaluated. At first, the similarity of the family's locus linkage with the known DFNA loci should be excluded, and then whole genome scan was carried out. Results Deafness gene of this family was localized at 2q13-q14.2. A maximum LOD score of 3.22 (?=0.00) was obtained with the microsatellite marker D2S363. Haplotype analysis placed the novel locus within a 8.4cM region interval defined by markers D2S1888 and 2S2224. DNA sequencing of coding regions and exon/intron boundaries of a candidate gene PAX8 in this interval did not reveal disease-causing mutation in this family. Conclusion A novel DFNA locus was defined in a Chinese Neimeng family.

Objective To study the effects of health management on blood pressure and lifestyle of hypertensive outpatients.Methods A total of 319 hypertensive outpatients were randomly assigned to the control group (n =160) or the health management group (n =159).Pharmacologic therapy was given to the control group,while in the health management group,intensive health management combined with pharmacologic therapy was conducted.Blood pressure,height,body weight (BW),total cholesterol (TC),and fasting blood glucose (FBG) of the participants were measured and compared at baseline and 12 months.Results There were no significant differences of clinical characteristics between two groups at baseline.After 12 months' intervention,more significant decrease of systolic blood pressure and diastolic blood pressure was found in the health management group (t values were 2.701 and 2.306,respectively;both P ＜ 0.05).There were statistically significant differences of body mass index (BMI) and serum TC levels between the control and the health management group (t values were 2.111 and 2.227,respectively ;P ＜ 0.05).After the intervention,two groups showed no significant difference in current cigarette smoking (x2=2.787,P ＞ 0.05).The participants in the health management group showed improved physical exercises,diet,and adherence to treatment at the end of the observation (x2 values were 59.459,52.018,6.321 and 5.392,respectively; all P ＜ 0.05).Conclusion Compared with pharmacologic therapy,health management combined with pharmacologic therapy could significantly improve clinical parameters and life style of hypertensive patients.

Objective　To investigate the diagnosis and treatment of acute rejection of orthotopic liver transplantation (OLT). Methods　From July 1999 to April 2000, two piggyback liver transplantations were performed on two patients with Wilson's disease. Results　Cyclosporine A, azathioprine and methylprednisolone were the baseline immunosuppression management. Acute rejection occured 5 times in the 2 patients. The correct diagnosis was obtained through clinical inspection, liver function test and biopsy. The rejections were controlled by intensive steriod therapy plus OKT3 or FK506. Conclusions　Clinical inspection and liver function test can suggest the episode of acute rejection in time. Hepatic biopsy is the key point for diagnosis of acute rejecton, Reasonable use of immunosppression is critical for the treatment.

ObjectiveTo study the effects of health management on elderly patients with metabolic syndrome and lower extremity arterial disease.Methods A total of 118 metabolic syndrome( MS ) patients with ankle-brachial index (ABI) ＜ 0.9 and no intermittent claudication were randomly assigned to the control group( n =60,receiving pharmacologic therapy ) or health management group ( n =58,receiving intensive health management + pharmacologic therapy).Blood pressure,ABI,total cholesterol (TC),and fasting blood glucose(FBS) were tested before and 12 after the intervention.Results Clinical data were comparable between the two groups at baseline.After 12-months' intervention,systolic blood pressure(SBP) and FBS in both groups were significantly decreased,especially in the health management group[SBP:(141 ± 10)mm Hg(1 mm Hg=0.133 kPa) vs(146±11) mm Hg,t =2.581,P=0.011; FBS:(5.32 ±1.33) mmol/L vs ( 5.92 ± 1.61 ) mmol/L,t =2.231,P =0.028].TC ( 5.51 ± 0.51 ) mmol/L vs ( 5.11 ± 0.49 ) mmol/L,(t=4.307,P=0.000) and ABI(0.77 ±0.17 vs 0.84 ±0.19,t=2.091,P=0.039) of the health management group were significantly improved at 12 months.Patients in the health management group also showed higher SF-36 scores than those in the control group( physical functioning:72.2 ± 12.4 vs 65.2 ±20.1,t =2.268,P =0.025 ; emotion:73.9 ± 18.0 vs 65.6 ± 21.1,t =2.295,P =0.023 ; mental health:63.9 ± 13.3vs 58.3 ± 12.5,t =2.358,P =0.020 ).Conclusion Compared with medication,health management and pharmacologic therapy could significantly improve clinical parameters and quality of life of elderly MS patients combined with peripheral arterial disease.

Objective To investigate the plasma 8-iso-prostaglandin F2α(8-iso-PGF2α and the serum C-re-active protein(CRP) levels in patients with obstructive sleep apnea-hypopnea syndrome(OSAHS) with and without hypertension(OSAHS + HT),and to explore the changes of pathophysiology in patients with OSAHS and the patho-genesis of OSAHS + HT. Methods All observed subjects were divided into 3 groups: control group (n=20),OS-AHS group(n=19),OSAHS + HT group (n=21). Plasma 8-iso-PGF2αand serum CRP concentrations levels were measured by ELISA and were compared. Results The plasma 8-iso-PGF2αand serum CRP levels,were higher in OSAHS patients than those in control subjects [(11.08±3.26)μg/L vs (7.49±2.10)μg/L,P<0.01;(1.75±0.82) mg/L vs (0.52±0.26 ) mg/L,P<0.01],and were higher in OSAHS + HT group than those in control group [14.84±3.43)μG/L vs(11.08±3.26)μg/L,P<0.01 ;(3.13±1.06)mg/L vs(1.75±0.82)mg/L,P<0.01]. Conclusions Oxidative stress and inflammation in OSAHS patients are increased,which are involved in the devel-opment of OSAHS associated hypertension.

Objective To investigate the incidence, diagnosis and treatment of complications after endoscopic retrograde cholangiopancreatography (ERCP), and to explore the ways of prevention. Methods Clinical data of 930 subjects, in which 510 were older than 60, with cholangiopancreatic diseases who underwent ERCP in the past 2 years were retrospectively analyzed. Results Success rate of ERCP was 96.34% (896/930),and the postoperative complication incidence was 7.85% (73/930). Of all the complications, there were 42 cases of acute pancreatitis, among which 1 was accompanied with biliary tract infection, 4 cases of duodenum perforation, 6 delayed hemorrhage, 2 cardiac dilacerations bleeding, and 19 biliary tract infection (5 combined with infectious shock). All subjects with complications were cured except for 2 deaths. Conclusion ERCP is a safe and effective method for elderly patients. However, due to decreased organ functions and other underlying diseases, complications after ERCP in elderly patients are usually difficult to manage. The key factors in prevention of complications after ERCP includes in obedience to indications, improvement in procedure skills, treatment of accompanied diseases before and after ERCP, and active management of complications.

AIM: To study the effect of calcium sensing receptor (CaSR) on icariin (ICA) induced mouse embryonic stem cells ( mESCs) to differentiate into cardiomyocytes in vitro.METHODS:mESCs were cultured to embry-oid bodies ( EBs) by direct suspension method and the differentiation of EBs into cardiomyocytes was induced by ICA.The expression of cardiac specific proteinsα-actinin and cardiac troponin-I ( cTnI) was analyzed by Western blot and immuno-fluorescence.The differentiation rate was determined by flow cytometry.The ultrastructure of the derived cardiomyocytes was further characterized by transmission electron microscopy.The expression of cardiac-specific transcription factors Nkx2.5 and GATA-4,as well as CaSR was detected by Western blot.RESULTS: After induction with ICA, the positive characteristics of myocardial cells appeared in the EBs cultured for 2 d.The expression of cardiac-specific sarcomeric pro-tein actinin (α-actinin) and cTnI showed an overall upward trend by Western blot in different phases of ICA induced differ-entiation.The expression of CaSR, Nkx2.5 and GATA-4 was the highest at an early stage of ICA-induced differentiation. Neomycin (an activator of CaSR) up-regulated CaSR, NKx2.5 and GATA-4 expression in the EBs at early stage of ICA-in-duced differentiation, all of which were reversed by NPS2390 ( an inhibitor of CaSR) .CONCLUSION:CaSR is function-ally expressed in mESC-derived cardiomyocytes, and activation of CaSR is involved in the differentiation of mESCs into car-diomyocytes by facilitating the expression of NKx2.5 and GATA-4.

AIM: Ischemic post-conditioning ( PC) plays an important role in cardioprotection from ischemia /reperfusion ( I/R) injury in the young heart but not in the aging hearts .The physiological and pathological roles of hydrogen sulfide ( H2 S) in the regulation of cardio-vascular functions have been recognized .Whether H2 S is involved in the recovery of PC-induced cardioprotection in the aging hearts is unclear.METHOD:The male Wistar young rats (3-month-old), the aging rats (24-month-old), primary cultured cardiomyocytes and the aging cardiomyocytes induced by D-galactose suffered from I/R (or H/R) and PC.RESULTS:I/R (or H/R) decreased H2S production rate and cystathionine γ-lyase (CSE) expression, aggravated cardiomyocyte damage , apoptosis, myocardial infarct size and oxidative stress, reduced cardiac function, increased the levels of Bcl-2, cleaved caspase-3 and caspase-9 mRNA and proteins, promo-ted the release of cytochrome c and mPTP opening, down-regulated the phosphorylation of ERK 1/2, PI3K, Akt and GSK-3βand mito-chondrial membrane potential , up-regulated the phosphorylation of IκBα, NF-κB, JNK2 and STAT3, and inhibited PKC-ε transloca-tion and mitochondrial ATP-sensitive K channels (mitoKATP) in isolated young and aging hearts as well as normal and aging cardiomyo-cytes.PC suppressed myocardial I/R injury in the young heart but not in the aging hearts .Supply of NaHS not only increased PC-in-duced cardioprotection in the young hearts and cardiomyocytes , but also attenuated I/R injury and significantly recovered the cardiopro-tective role of PC in the aging hearts and cardiomyocytes .CONCLUSION:The exogenous H 2 S restores PC-induced cardioprotection through inhibiting oxidative stress via the down-regulation of NF-κB and JAK2-STAT3 pathways and mPTP opening by the up-regulation of ERK1/2-GSK-3β, PI3K-Akt-GSK-3βand PKC-ε-mitoKATP pathways in the aging hearts and cardiomyocytes .These findings provide a novel potential target for the treatment of aging ischemic cardiomyopathy .

Objective To study the effects of health management on cardiovascular events in the elderly patients with hypertension. Methods A total of 182 elderly patients with hypertension were randomly assigned to the control group (n = 61 ), pharmacologic therapy group (n = 61 ) or health management group ( n = 60). Serum biomarkers, brachial-ankle pulse wave velocity ( baPWV ), and blood pressure were tested at baseline and after intervention. Results There were no differences between the 2 groups in clinical characteristics at baseline. The average following-up period was (21 ± 7 ) months. The improvement of systolic blood pressure ( t = 3.915, P = 0. 000 ), pulse pressure ( t = 3. 966, P = 0. 000), and baPWV ( t = 3. 093, P = 0. 002) in the health management group was more significant than the control group;the systolic blood pressure ( t = 2. 008, P= 0. 046 ) was bitterly improved than the pharmacologic therapy group. The accumulative survival rate of the health management group (96. 7% ) was higher than the control group (83.6%; x2 =5. 921 ,P =0. 015) ,similar to the pharmacologic therapy group (93.3%; x2 =2. 821,P=0.091 ). Decreased systolic blood pressure, diastolic blood pressure, pulse pressure and baPWV were protective factors. After adjusted by age and gender,the improvement of systolic blood pressure was found to be an independent protective factors ( RR = 0. 75, P ＜ 0. 05 ). Conclusion Health management in elderly patients with hypertension could more significantly reduce the risk of cardiovascular diseases.

Objective To evaluate the effectiveness and safety of needle-knife fistulotomy (NKF)for difficult cannulation during endoscopic retrograde cholangiopancreatography (ERCP). Methods Data of patients, who received NKF on the back of major papilla when bile duct could not be accessed by conventional cannulation and/or other pre-cut methods during ERCP, were retrospectively reviewed. The success rate of deep cannulation and its complications were observed and analyzed. Results NKF was performed in 108patients due to difficult cannulation, which succeeded in 97 (91.2%) in access to the bile duct and failed in 11 patients with malignant biliary strictures. The failure rate in patients with distal malignant obstruction was higher (25. 8%, 8/31) than those with proximal lesions (5.3%, 3/57) (P = 0. 014, χ2 = 5. 983).Post-ERCP pancreatitis occurred in 5 cases (4. 6%), with the incidence significantly higher in NKF-failure group (18. 2%, 2/11) than that in NKF-suocess group (3.1% ,3/97) (P = 0. 006, χ2 = 7.418). Intestinal perforation occurred in 1 patient and cholangitis developed in 4 others, which all recovered after conservative managements. Conclusion NKF for difficult cannulations in ERCP is safe and effective, especially in hands of experienced operators, but cannulation success rate is relatively low in distal malignant biliary obstruction.