Safety and efficacy of anisodamine on prevention of contrast induced nephropathy in patients with acute coronary syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Previous studies have proved the renal protective effects of anisodamine in patients with septic shock. The aim of this study was to investigate anisodamine for the prevention of contrast induced nephropathy (CIN) in patients with acute coronary syndrome (ACS).</p><p><b>METHODS</b>Consecutive ACS patients undergoing elective percutaneous coronary intervention (PCI) were randomly assigned to one of two groups: patients in the anisodamine group (ANI group) were assigned to receive intravenous infusions of anisodamine by an adjusted-dose (0.1 - 0.2 µg × kg(-1)× min(-1)) from the PCI procedure to 24 hours after PCI, and the control group (CON group) received 0.9% isotonic saline of the same volume. All patients were hydrated for 6 to 12 hours before and 12 hours after PCI. Blood samples were taken on the day of PCI and at 24, 48 and 72 hours after PCI to measure the serum creatinine (SCr).</p><p><b>RESULTS</b>A total of 177 patients were involved in the study, 88 in the ANI group and 89 in the CON group. In both groups, the SCr concentrations significantly increased after PCI, with the peak value occurring at 48 hours. At 72 hours, the SCr concentration in the ANI group retuned to the baseline level (P > 0.05), but the SCr concentration in CON group was still higher than baseline level (P < 0.01). The SCr concentrations at 48 and 72 hours after PCI were much lower in the ANI group than those in the CON group (both P < 0.01). The estimated glomerular filtration rate (eGFR) significantly decreased after PCI, the lowest value occurred at 48 hours. In the ANI group, the eGFR at 72 hours was similar to the baseline level. In the CON group, the eGFR failed to return to baseline at 72 hours (P < 0.01). The eGFR at 24, 48 and 72 hours after PCI were higher in the ANI group (all P < 0.05). The incidence of CIN in the ANI group was lower than that in the CON group within 72 hours after PCI (P < 0.05). The results of multiple Logistic regression proved that both diabetes and left ventricular ejection fraction (LVEF) were independent predictors of CIN, and treatment with anisodamine was an independent preventive factor of CIN (OR 0.369 and 95%CI 0.171 to 0.794, P = 0.011). No serious side effects were found in the ANI group.</p><p><b>CONCLUSION</b>Intravenous infusion of anisodamine during and after elective PCI may safely prevent the occurrence of CIN in ACS patients.</p>

Effect of dexmedetomidine on stress responses during extubation in patients undergoing uvulopalatopharyngoplasty / 中华耳鼻咽喉头颈外科杂志

<p><b>OBJECTIVE</b>To observe the effect of dexmedetomidine hydrochloride on stress responses during extubation in patients undergoing uvulopalatopharyngoplasty (UPPP).</p><p><b>METHODS</b>Eighty-six scheduled for UPPP under general anesthesia were randomly divided into dexmedetomidine group (group D, n = 50) and control group (group C, n = 36). All patients were transported into post anesthesia care unit (PACU) after surgery and maintained sedation and analgesia by infusing propofol and sufentanil. Patients in group D were administrated dexmedetomidine 0.5 µg/kg, group C were administrated equivalent volume of normal saline. Both groups were treated with mechanical ventilation 6 - 24 h before extubation. Recovery time, the dosage of sedative and analgesic drugs and side effects were recorded.</p><p><b>RESULTS</b>There were no significant differences between two groups in recovery time (P > 0.05). The dosage of propofol and sufentanil in group D were respectively (785 ± 65) mg, (176 ± 10) µg, significantly less than that in group C (950 ± 101) mg, (209 ± 14) µg (P < 0.05). side effects in group D were significantly less than that in group C (P < 0.01).</p><p><b>CONCLUSIONS</b>Dexmedetomidine hydrochloride could efficiently restrain the stress response around tracheal extubation, reduce postoperative complications in patients undergoing UPPP.</p>

Prediction of contrast-induced nephropathy in diabetics undergoing elective percutaneous coronary intervention: role of the ratio of contrast medium volume to estimated glomerular filtration rate / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Diabetic patients undergoing percutaneous coronary intervention (PCI) have a higher incidence of contrast-induced nephropathy (CIN) than nondiabetic patients, and no pharmacological approach has been demonstrated to offer consistent protection. Therefore, identifying individuals who are at increased risk becomes essential. This study was designed to assess the predictive role of the ratio of contrast medium volume to estimated glomerular filtration rate (CMV/eGFR) in diabetic patients undergoing elective PCI who developed CIN.</p><p><b>METHODS</b>We retrospectively investigated clinical factors associated with the development of CIN in 114 diabetic patients who had undergone elective PCI. The risk factors for CIN included age, gender, body mass index (BMI), left ventricular ejection fraction (LVEF), hemoglobin (Hb), fasting plasma glucose (FPG), hemoglobin A1c (HbA1c), volume of contrast medium, basic levels of serum creatinine (Scr), the number of treated vessels and the number of stents used. We conducted a stepwise regression analysis to evaluate the predictive role of these risk factors in the incidence of CIN.</p><p><b>RESULTS</b>The incidence of CIN was 18.4% (21/114). There were no significant differences in age, gender, BMI, LVEF, Hb, FPG, HbA1c, and incidence of hypertension and number of acute myocardial infarction (AMI) in patients between the CIN (n = 21) and the non-CIN (n = 93) groups. However, the eGFR was significantly lower ((72.0 ± 12.5) ml·min(-1)·1.73 m(-2) vs. (82.0 ± 16.5) ml·min(-1)·1.7 m(-2), P = 0.010), and the basic serum creatinine level ((1.07 ± 0.12) mg/dl vs. (0.97 ± 0.19) mg/dl P = 0.014) was significantly higher in the CIN group. In addition, the volume of contrast medium was significantly larger ((253 ± 75) ml vs. (211 ± 71) ml, P = 0.017) and the CMV/eGFR ratio was significantly greater (3.64 ± 1.26 vs. 2.70 ± 1.11, P = 0.001) in the CIN group. Stepwise regression analysis showed that the CMV/eGFR ratio was a significant independent predictor for the development of CIN (P = 0.001). At a cut-off point of > 3.1, the CMV/eGFR ratio exhibited 71% sensitivity and 70% specificity for detecting CIN.</p><p><b>CONCLUSION</b>The CMV/eGFR ratio could be a valuable predictor of CIN for diabetic patients after elective PCI. At a cut-off point of > 3.1, the CMV/eGFR ratio was an optimal predictor for the incidence of CIN.</p>

The effect of Valsartan and Captopril for the improvement of left ventricular systolic function after acute anterior myocardial infarction / 中华核医学杂志

Objective To compare the therapeutic effect of angiotensin Ⅱ antagonist (Valsartan)and angiotension-converting enzyme inhibitor (Captopril) for the improvement of left ventricular systolic function(LVSF) after acute myocardial infarction (AMI) at anterior wall. Methods A total of 75 patients with initial AMI at anterior wall were enlisted in the study. Patients were divided randomly into three groups: control group (n = 15), Captopril treated (n =30), and Valsartan treated (n =30). At 1 week and 28 weeks post AMI, the LVSF and left ventricular regional ejection fraction (LrEF) were measured by equilibrium radionuclide angiography (ERNA). The t-test was used to compare the dada. Results ( 1 ) At 28 weeks, left ventricular ejection fraction (LVEF) and left ventricular peak ejection rate (LPER) in Valsartan treated group were significantly increased as compared with those of control: ( 59.4 ± 8.6 ) % vs (44.9 ± 8.4)%, t = 3.87, P ＜ 0.01 for LVEF; (3.89 ± 1.01 ) end-diastolic volume (EDV)/s vs (2.84 ±1.05) EDV/s, t= 4.16, P ＜ 0.01 for LPER). The left ventricular time to peak ejection rate (LTPER) in Valsartan treated group was significantly decreased ( ( 116 ± 16 )ms vs ( 137 ±20) ms, t =2.16, P ＜ 0.05 ) as compared with control. (2)Compared with 1-week, 28-week Valsartan treated group had a significant increase inLrEF2, LrEF4, LrEF5, LrEF6: (71.6±18.8)% vs (57.0±11.4)%, t=2.11, P＜0.05;(78.1 ±16.8)% vs (68.9±21.0)%, t =2.06, P＜0.05; (70.5±16.9)% vs (59.9 ±23.4)%, t=1.99, P ＜ 0.05; and (58.1 ± 9.0) % vs (46.0 ± 18.9) %, t = 2.43, P ＜ 0.05, respectively. Conclusions Valsartan and Captopril are effective for the improvement of LVEF after AMI at anterior wall. The effects of the two drugs are similar.

Intensive cholesterol lowering with statin improves the outcomes of percutaneous coronary intervention in patients with acute coronary syndrome / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>The incidence of no reflow phenomenon limits the clinical outcomes of percutaneous coronary intervention (PCI). This randomized controlled study was designed to evaluate the immediate protective effects of intensive statin pretreatment on myocardial perfusion and myocardial ischemic injury during PCI.</p><p><b>METHODS</b>Altogether 228 patients with acute coronary syndrome (ACS) were randomly assigned to standard statin group (SS group, n = 115) and intensive statin group (IS group, n = 113). Patients in the SS group received 20 mg simvastatin and patients in the IS group received 80 mg simvastatin for 7 days before PCI. Thrombolysis in myocardial infarction (TIMI) flow grade (TFG), corrected TIMI frame count (CTFC) and TIMI myocardial perfusion grade (TMPG) of the intervened vessel were recorded before and after stent deployment. Creatine kinase (CK) isoenzyme MB, troponin I and plasma level of high sensitive-C reactive protein (hs-CRP), P-selectin and intercellular adhesion molecule (ICAM) were measured before and 24 hours after the procedure.</p><p><b>RESULTS</b>The TFG after stent deployment was significantly improved with less TIMI 0-1 and more TIMI 3 blood flow in the IS group than in the SS group (all P < 0.05). Patients with no reflow phenomenon were less in the IS group (P < 0.001). The CTFC was lower in the IS group than in the SS group (P < 0.001). TMPG was also improved in the IS group than in the SS group (P = 0.001). Although PCI caused a significant increase in CK-MB 24 hours after the procedure, the elevated CK-MB value was lower in the IS group than in the SS group (18.74 +/- 8.41 vs 21.78 +/- 10.64, P = 0.018). Similar changes were also found in troponin I (0.99 +/- 1.07 in the IS group vs 1.47 +/- 1.54 in the SS group, P = 0.006). CK-MB elevation occurred in 27.8% (32/115) of the patients in the SS group vs 15.9% (18/113) in the IS group (P = 0.030). Myocardial necrosis was detected in 4.4% (5/115) of the patients in the SS group, whereas 0.9% (1/113) in the IS group (P = 0.341). But no myocardial infarction was found. Similarly, the patients with increased level of troponin I were much more in the SS group (36.5%, 42/115) than in the IS group (19.5%, 22/113) (P = 0.04). Among them, myocardial necrosis was detected in 13.0% (15/115) of the patients in the SS group, while 4.4% (5/113) in the IS group (P = 0.021). Myocardial infarction was found in 4.4% (5/115) of the patients in the SS group and 0.9% (1/113) in the IS group (P = 0.213).</p><p><b>CONCLUSIONS</b>Intensive statin pretreatment for 7 days before PCI can further improve myocardial blood perfusion, protect the myocardium from ischemic injury. These effects are associated with the lowered levels of hs-CRP, P-selectin and ICAM.</p>

Effect of tirofiban plus clopidogrel and aspirin on primary percutaneous coronary intervention via transradial approach in patients with acute myocardial infarction / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Aspirin and clopidogrel can improve myocardial reperfusion and alleviate myocardial injury during percutaneous coronary intervention (PCI). Whether the addition of intravenous tirofiban during this procedure produces further benefit has not been clarified in ST segment elevation myocardial infarction (STEMI) patients. We evaluated this on STEMI patients who underwent primary PCI (p-PCI) via transradial artery approach.</p><p><b>METHODS</b>Consecutive patients were randomized into tirofiban group (n=72) or placebo group (n=78). Angiographic analysis included initial and final thrombolysis in myocardial infarction (TIMI) flow grade (TFG), corrected TIMI frame count (CTFC) and TIMI myocardial perfusion grade (TMPG) of the thrombotic vessel. Platelet aggregation rate (PAR), creatine phosphokinase (CPK), CPK isoenzyme MB (CPK-MB) and troponin I levels were measured and TIMI definitions were used to assess bleeding complications. Left ventricular performance parameters were investigated with equilibrium radionuclide ventriculography. Major adverse cardiac events (MACE) were followed up for 6 months.</p><p><b>RESULTS</b>The cases of TFG 0 and 1 before PCI, TFG 0 when first crossing of guide wire were less, and the cases of TFG 3 after PCI was more in tirofiban group than those in placebo group. The final CTFC was fewer and the incidence of no reflow phenomenon was lower, as well the percentage of final TFG 3 was higher in tirofiban group than those in placebo group (all P<0.05). Mean peak CPK-MB was significantly lower, while the left ventricular performance parameters 1 week after PCI were much more improved in tirofiban group than those in the placebo group. PAR was significantly decreased shortly after tirofiban infusion. The incidence of 6-month MACE in tirofiban group was obviously lower than that in the placebo group. No statistical difference was noted between the two groups with regard to bleeding complications.</p><p><b>CONCLUSIONS</b>Intravenous tirofiban infusion, in addition to aspirin and clopidogrel in STEMI patients with p-PCI via transradial artery access, can quickly inhibit platelet aggregation, loosen occlusive thrombus, improve myocardial reperfusion and reduce incidence of MACE with few complications of vessel access and bleeding.</p>

Influence of intracoronary administration of anisodamine on no-reflow, ventricular function and systolic synchrony in acute myocardial infarction patients undergoing percutaneous coronary intervention / 中华心血管病杂志

<p><b>OBJECTIVE</b>To evaluate the influence of intracoronary administration of anisodamine on myocardial blush grade (MBG) and left ventricular regional and global systolic function and synchrony in the acute myocardial infarction (AMI) patients with no-reflow phenomenon post percutaneous coronary intervention (PCI).</p><p><b>METHODS</b>Forty-seven AMI patients who underwent PCI within 12 hours of onset and MBG was 0 - 1 were randomized to receive standard therapy [group B, n = 23, 18 males, mean age (62.72 +/- 11.48) years] or standard therapy plus intracoronary administration of anisodamine [200 microg/ml, group A, n = 24, 18 males, mean age (64.23 +/- 12.27) years]. The left ventriculography (LVG) was performed immediately and 6 months after PCI to measure the ventricular volume, LVEDP and wall motion score (WMS). Equilibrium radionuclide angiography (ERNA) was performed 1 week and 6 months after PCI to determine the parameters of left ventricular regional, global systolic function and systolic synchrony. Incidence of major adverse cardiac events (MACE) during the follow-up was analyzed.</p><p><b>RESULTS</b>Anisodamine [(2530 +/- 340) microg/person)] was well tolerated by patients. The MBG remained unchanged in group B and significantly increased from grade 0.74 +/- 0.32 to grade 2.33 +/- 0.28 10 min after anisodamine injection in group B. Six months post PCI, LVESVI [(40.53 +/- 8.12) ml/m(2) vs. (50.32 +/- 8.26) ml/m(2)], LVEDVI [(80.13 +/- 9.74) ml/m(2) vs. (87.17 +/- 10.25) ml/m(2)], WMS [(8.24 +/- 1.31) vs. (10.23 +/- 1.82)] and LVEDP [(13.36 +/- 4.21) vs. (16.38 +/- 3.21) mm Hg, 1 mm Hg = 0.133 kPa] were significantly lower in group A compared with that in group B (all P < 0.05) while LVEF [(44.02 +/- 5.86)% vs. (38.52 +/- 5.18)%], PER [(1.86 +/- 0.09) EDV/s vs. (1.61 +/- 0.09) EDV/s] and PFR [(2.19 +/- 0.32) EDV/s vs. (1.78 +/- 0.17) EDV/s] measured by ERNA were significantly increased in group A compared with that in group B (all P < 0.05). (2) LrEF(2)-LrEF(8) in group A were higher by 13.96%, 25.02%, 30.36%, 22.86%, 27.67%, 22.07% and 18.71% respectively compared with that in group B. (3) Phase analysis showed that the left ventricular systolic synchrony parameters PS [(46.04 +/- 8.93) degrees vs. (53.19 +/- 162) degrees ], FWHM [(23.02 +/- 6.27) degrees vs. (25.02 +/- 5.31) degrees ] and PSD [(7.92 +/- 4.12) degrees vs. (11.76 +/- 4.11) degrees ] were also significantly lower in group A than that in group B (all P < 0.05). (4) During the 6 months of follow-up, the incidence of MACE in group A was significantly lower than that in group B (P < 0.05).</p><p><b>CONCLUSION</b>Intracoronary administration of anisodamine is safe and could partly attenuate the no-reflow phenomenon, improve the left ventricular systolic function and synchrony and reduce the incidence of MACE in patients with no-reflow phenomenon post AMI-PCI.</p>

Effect of intracoronary administration of anisodamine on slow reflow phenomenon following primary percutaneous coronary intervention in patients with acute myocardial infarction / 中华医学杂志(英文版)

<p><b>BACKGROUND</b>Many basic and clinical studies have proved that anisodamine can produce significant effect on relieving microvascular spasm, improving and dredging the coronary microcirculation. It may be beneficial to the improvement of slow-reflow phenomenon (SRP) following percutaneous coronary intervention (PCI) for acute myocardial infarction (AMI). So we investigated the effect of intracoronary administration of anisodamine on SRP of infarct related artery (IRA) following primary PCI in patients with ST segment elevated acute myocardial infarction (STEAMI).</p><p><b>METHODS</b>Twenty-one patients with SRP from a total of 148 STEAMI patients accepted primary PCI were enrolled into this study from September 2004 to December 2005. When SRP happened, nitroglycerin (200 microg) was "bolus" injected firstly into IRA to exclude the spasm of epicardial artery and identify SRP as well as a baseline and self-control agent following PCI. Ten minutes later, 1000 microg of anisodamine was injected into IRA with SRP at 200 microg/s, while the coronary angiography (CAG) was taken before and at 1st, 3rd and 10th minute after administration of nitroglycerin or anisodamine, respectively. The corrected TIMI frame count (cTFC), TIMI myocardial perfusion grade (TMPG) and the diameter of IRA were calculated and analyzed by Gibson's TIMI frame count method using quantitative computer angiography (QCA) system to evaluate the influence of anisodamine on coronary flow and vessel lumen. In the meantime the invasive hemodynamic parameters of intracoronary and systemic artery (systolic, diastolic and mean pressure) and electrocardiogram (ECG) were measured and monitored. The changes of ventricular performance parameters and the adverse reaction were evaluated and followed-up at 1 month post-PCI.</p><p><b>RESULTS</b>No significant changes in cTFCs and TMPGs were found at 1st, 3rd and 10th minute after intracoronary administration of nitroglycerin as compared with the baseline control (P > 0.05). cTFCs were decreased by 58.3%, 56.2%, and 54.6%, respectively (P < 0.001), and TMPGs were increased from 1.13 +/- 0.21 grade to 2.03 +/- 0.32, 2.65 +/- 0.45 and 2.51 +/- 0.57 grades (P < 0.05) at 1st, 3rd and 10th minute after intracoronary administration of anisodamine as compared with those after intracoronary administration of nitroglycerine, respectively. The average coronary blood flow of TIMI grade was improved from 1.76 +/- 0.43 to 2.71 +/- 0.46 (P < 0.05) while the diameter of middle segment in re-patented coronary artery was slightly increased from (3.20 +/- 0.40) mm to (3.40 +/- 0.50) mm at the 3rd minute after intracoronary administration of anisodamine (P > 0.05) as compared with those of nitroglycerine control. The systolic, diastolic and mean pressures of intracoronary artery after intracoronary administration of anisodamine increased from 115 to 123, 75 to 84, 88 to 95 mmHg (P < 0.05), respectively, along with the rise of heart rate from 68 to 84 beats per minute (P < 0.05). There were no significant changes in intervals of PR, QT and QRS (P > 0.05) and no any severe fast arrhythmia after intracoronary administration of anisodamine. The ventricular performance parameters were significantly improved and no major adverse cardiovascular events (MACE) were found during follow-up at 1 month post-PCI.</p><p><b>CONCLUSIONS</b>Intracoronary administration of 1000 microg anisodamine is effictive in reversing SRP following PCI in STEAMI patients, especially it is suitable for SRP patients with bradycardia or hypotension.</p>

Acute hemodynamic effects of intravenous recombinant human brain natriuretic peptide in patients with acute myocardial infarction complicated with heart failure / 中华心血管病杂志

<p><b>OBJECTIVE</b>To compare the acute hemodynamic effects and safety of intravenous injection of recombinant human brain natriuretic peptide (rhBNP) versus intravenous nitroglycerin (NIT) in acute myocardial infarction (AMI) patients with heart failure.</p><p><b>METHODS</b>On top of standard therapy, 42 consecutive patients who suffered from anterior wall AMI with heart failure [pulmonary capillary wedge pressure (PCWP) > 16 mm Hg] within 12 to 24 hours from the onset of chest pain were randomized into rhBNP group (n = 21, 1.5 microg/kg bolus intravenous injection followed by 0.0075 microg.kg(-1).mn(-1) for the first 3 hours and 0.015-0.03 microg.kg(-1).mn(-1) infusion for following 21 hours) and NIT group (n = 21, 10 to 100 microg/mn intravenous infusion for 24 hours). The hemodynamic parameters were monitored by Swan-Ganz catheter at baseline, during drug infusion and 6 hours post infusion withdraw; total urine output was also obtained. The major adverse cardiac events (MACE) were observed up to 1 week after drug infusions.</p><p><b>RESULTS</b>Central venous pressure and systolic blood pressure remained unchanged after rhBNP or NIT infusion. Compared to baseline level, PCWP was significantly reduced by 48.9% (P < 0.01) at 30 minutes after rhBNP infusion and this effect remained up to 6 hours post infusion withdraw; PCWP reduced by 28.7% (P < 0.05) at 2 hours after NIT infusion and this effect remained to 6 hours before infusion withdraw. Cardiac index (CI) was increased by 27.1% (P < 0.05) at 1 hour after rhBNP infusion and remained till 6 hours post infusion withdraw; CI was significantly increased at 3 hour after NIT infusion and this effect disappeared after infusion withdraw. The PCWP and CI values were significantly higher in rhBNP group than that of NIT group at 30 minutes and 2 hours (P < 0.05). Heart rate was significantly reduced at 30 minutes (95.3 +/- 7.4 vs. 118.0 +/- 8.2 bpm, P < 0.05) and at 2 hour (92.8 +/- 6.8 vs. 109.2 +/- 7.6 bpm, P < 0.05) in rhBNP and NIT group, respectively and heart rate remained reduced during the whole infusion period in both groups. The total urine output for 30 hours in rhBNP group (1870 +/- 535 ml) tended to be higher than that in NIT group (1538 +/- 620 ml, P > 0.05). There was no symptomatic hypotension or other adverse events during drug infusion in both groups and MACE up to 1 week post drug infusion was also similar between the two groups.</p><p><b>CONCLUSION</b>Intravenous injection of rhBNP results in more rapid and long-lasting hemodynamic improvements than that of NIT in AMI patients with heart failure and it is also feasible and safe for clinic use in AMI patients with heart failure.</p>

Clinical features and the mutation of Leber's hereditary optic neuropathy in Chinese patients / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To analyze the mutation of Leber's hereditary optic neuropathy (LHON) and the clinical features in Chinese patients.</p><p><b>METHODS</b>The primary mtDNA mutations (3460A, 11778A and 14484C) of 156 patients (110 probands and 46 maternal relatives with LHON) were detected by mutation-specific priming polymerase chain reaction, heteroduplex-single strand conformation polymorphism polymerase chain reaction, restriction fragment length polymorphisms and measurement of DNA sequence. The clinical features were analyzed by retrospective study.</p><p><b>RESULTS</b>The 11778A mutation was found in 100 probands (90.9%), the 3460A mutation was found in 2 (1.8%), and the 14484C was found in 8 (7.3%) of the 110 probands. The visual acuity at onset of the disease was 0.01 or worse in 44 (17.6%) of 250 eyes with the 11778A mutation, but in none of 79 eyes with the 14484C mutation. The visual acuity was 0.1 or better in 76 (29.6%) of 250 eyes with the 11778A mutation, but in 49 (87.3%) of 56 eyes with the 14484C mutation. And 6.8% of 250 eyes with the 11778A mutation recovered a mean final visual acuity of 0.03, whereas 50% of 56 eyes with the 14484C mutation recovered a mean final visual acuity of 0.8.</p><p><b>CONCLUSION</b>In Chinese LHON patients the 11778A, 14484C primary mutations are common. The clinical features are associated with the site of primary mutation. The visual acuity at onset of the disease and the visual recovery of the eyes with 14484C mutation were better than the eyes with the 11778A mutation.</p>

The SNPs analysis of encoding sequence of interacting factor gene in Chinese population / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To screen the variations of TG interacting factor(TGIF) gene in encoding sequence in Chinese high myopia patients and normal controls and to analyze the SNPs of TGIF gene encoding sequence in Chinese population.</p><p><b>METHODS</b>Genomic DNA was collected from 204 probands with high myopia and 112 unrelated persons without high myopia. The coding sequences of TGIF gene in 316 subjects were analyzed by using exon-by-exon PCR heteroduplex-SSCP analysis and sequencing.</p><p><b>RESULTS</b>There were 3 types of SNP and one single nucleotide mutation in the coding sequence of TGIF gene: IVS-2 nt350 G --> T(36/204), codon140 CCA --> CCG; Pro140Pro codon163 CCG --> CTG;Pro163Leu and codon126 GTG --> GCG; Val126Ala(1/204). The SNPs of codon140 CCA --> CCG and codon163 CCG --> CTG were composed of 3 alleles and 5 genotypes in Chinese population which abide by Hardy-Weinberg law.</p><p><b>CONCLUSION</b>There was no evidence to prove that mutations in the TGIF gene are responsible for the high myopia in Chinese. Three SNPs of coding sequence TGIF gene in Chinese population abide by Hardy-Weinberg law.</p>