2.Clinical features of mtDNA A3243G mutation in adult patients
Sheng YAO ; Ri-Liang ZHENG ; Hong-Yan BI ; Zhao-Xia WANG ; Yun YUAN ;
Chinese Journal of Neurology 2000;0(04):-
Objective To analysis the clinical manifestations of mtDNA A3243G mutation in adulthood.Methods The clinical features were investigated in 36 cases (28 patients from 5 families with the mutation and 8 sporadic cases),in whom mtDNA A3243G mutation was confirmed genetically in 23 cases (15 cases from 5 mutation families and 8 sporadic cases).Cranium radiology was performed in 14 cases.Muscal biopsies were performed in l0 cases.Results Among 28 cases in the 5 family,there were 9 cases (32.1%) with stroke like episodes,17 cases (60.7%) with diabetic mellitus and 16 cases (57.1%) with deafness.Such symptoms usually combined with each other and rarely existed alone. Cardiomyopathy and renal failure were uncommon.In the 23 cases with mtDNA A3243G mutation,14 cases (61.0%) had mitochondria] myopathy,encephalopathy,lactic acidosis,and stroke-like episodes (MELAS),mostly presenting cognitive abnormalities,dysarthria or aphasia and headache,3 cases (13.0%) were asymptomatic carriers,2 cases (8.7%) had autonomic dysfunction,2 cases (8.7%) had diabetic mellitus with or without nerve deafness,1 case (4.3%) had diabetic mellitus with infertilitas and cardiomyopathy,respectively.Cranial radiological images revealed the changes more commonly in the temporal and occipital lobes and less frequently in the frontal lobes.Ragged red fibers were confirmed in 9 of 10 cases with muscle biopsies.The proportion of mutant mtDNA A3243C was not significantly different between MEALS (28.75%?13.69%) and non-MELAS (25.08%?11.54%).Conclusions mtDNA A3243G mutation mainly results in the lesions in the central nerve system,pancreatic island and acoustic nerve in adulthood.Heart and kidney are less frequently involved.Cognitive abnormalities,aphasia and headache are the major symptoms of adult MELAS.Families have with more than 1 patient with diabetic mellitus and deafness,indicating that the mutation is other than MELAS mutation.We should pay more attention to the non-MELAS symptoms in the families with mtDNA A3243G mutation.
3.Analysis of 287 patients with aortic dissection: General characteristics, outcomes and risk factors in a single center.
Guofu, HU ; Bi, JIN ; Hong, ZHENG ; Chuanshan, LAI ; Chenxi, OUYANG ; Yin, XIA ; Yiping, DANG ; Yiqing, LI
Journal of Huazhong University of Science and Technology (Medical Sciences) 2011;31(1):107-13
The general characteristics, outcomes and risk factors of the patients with aortic dissection (AD) were evaluated in a single medical center. From January 2002 to December 2008, 284 patients with AD were treated and followed-up at our institution, including 105 cases of type A AD and 179 cases of type B AD. The patients in each type were divided into three groups according to management: medical treatment group (A or B), open surgery group (A or B), and stent-graft group (A or B). The characteristics and follow-up outcomes were compared between the groups or subgroups. The results showed that there was significant difference in the prognosis for type A AD between medical treatment group and open surgery group, but there was no significant difference in the prognosis for type B AD between medical treatment group and stent-graft group. Independent risk factors of follow-up mortality for patients with type A AD included a history of atherosclerosis (HR, 3.807; 95% confidence interval [CI], 1.489 to 7.611; P=0.003), in-hospital hypotension/shock (HR, 4.687; 95% CI, 1.846 to 11.900; P=0.001), in-hospital myocardial ischemia or infarction (HR, 3.734; 95% CI, 1.613 to 8.643; P=0.002), pleural effusion (HR, 2.210; 95% CI, 1.080 to 4.521; P=0.030), branch vessel involvement (HR, 2.747; 95% CI, 1.202 to 6.278; P=0.016) and surgical treatment (HR, 0.177; 95% CI, 0.063 to 0.502; P=0.001). And there were insignificant independent predictors for mortality of the patients with type B AD. It was concluded that there were significant differences in characteristics and one year mortality between type A AD and type B AD, but after one year, there was no significant difference in the mortality and complications of them. There were several discordant risk factors of AD, such as female gender, age, thrombus, abrupt onset of pain that were considered as the risk factors in some papers. And there was no definite risk factor of mortality in this study in the patients with type B AD.
4.The therapeutic effects of low frequency ultrasound enhanced thrombolysis on acute cerebral infarction in rats
Jian-Zhong BI ; Hong-Xia YANG ; Zhao-Hong XIE ; Zheng-Yu ZHU ; Xiao-Yun WANG ; Zhen LIU ;
Chinese Journal of Physical Medicine and Rehabilitation 2003;0(12):-
Objective To observe the therapeutic effects of low frequency ultrasound enhanced thrombolysis (LFUET) on acute cerebral infarction (ACI) in rats.Methods The ACI animal models were established by injec- ting auto-thrombus into the rats' left middle cerebral arteries.They were then treated with urokinase,and received transcranial LFUET treatment at the same time.Nervous system functioning was assessed using NSS,and infarct vol- umes (IVs) were measured through tetrazolium chloride (TTC) staining.Results The NSS scores in the large- dose urokinase group (LDU group),the ultrasound plus small-dose urokinase group (USMU group) and in the in- farct group (Ⅰgroup) at 24 h after treatment were significantly lower than those before treatment.IVs in the two treat- ment groups are lower than those in theⅠgroup,but there was no significant difference between the LDU group and USMU group volumes.Conclusion LFUET can accelerate the recovery of nervous system function in rats after ACI,minimize IVs,and reduce the required dosage of urokinase.
5.Determination of calycosin-7-O-beta-D-glucopyranoside in radix astragali by HPLC.
Chun-xia LUO ; Ping-chuan LIN ; Li-hua GU ; Tao WU ; Da-zheng WU ; Zheng-tao WANG ; Zhi-bi HU
China Journal of Chinese Materia Medica 2003;28(7):603-606
OBJECTIVETO establish a RP-HPLC method for the determination of calycosin-7-O-beta-D-glucopyranoside in Radix Astragali, and to analyse the calycosin-7-O-beta-D-glucopyranoside content of ten samples of Radix Astragali, collected from different regions.
METHODA Polaris C18(250 mm x 4.6 mm, 5 microns) column was used and a mixture of methanol-water (30:70) was used as the mobile phase at a flow rate of 1.0 mL.min-1. The column temperature was 25 degrees C and the UV detection wavelength was 254 nm.
RESULTThe calibration curve was in good linearity over the range of 0.0106-2.12 micrograms with the regression equation Y = 3035. 97 X - 14.85(r = 0.9999). The average recovery was 95.8% (n = 5, RSD = 1.3%).
CONCLUSIONThe method is simple, quick, sensitive and reproducible. In all of the samples, the calycosin-7-O-beta-D-glucopyranoside contents differ markedly.
Astragalus membranaceus ; chemistry ; classification ; China ; Chromatography, High Pressure Liquid ; Ecosystem ; Glucosides ; analysis ; Isoflavones ; analysis ; Plant Roots ; chemistry ; Plants, Medicinal ; chemistry ; Quality Control ; Species Specificity
6.Application of HLAMatchmaker analysis eplets mismatch of renal transplant matching.
Xing ZHANG ; Xiao-Dong PAN ; Hui-Ying XU ; Cun-Zao WU ; Yong CAI ; Peng XIA ; Shao-Ling ZHENG ; Yi-Rong YANG ; Bi-Cheng CHEN
Chinese Journal of Applied Physiology 2014;30(3):237-241
OBJECTIVEEplets mismatch based on HLAMatchmaker software evaluates the clinical application of kidney transplantation.
METHODSIn 239 cases of renal transplant,merits of methods of the traditional HLA six antigen matcheing criteria, cross reaction groups standard and Eplets mismatch based on HLAMatchmaker standard were compared respectively.
RESULTSThe number of mismatchs with three methods in 239 cases, were grouped according to low-high mismatchs. The results revealed that HLAMatchmaker algorithm could significantly increase the number of low mismatchs group 54 (22.6%), compared with the HIA group 19(7.9%) and CREGs group 32 (13.4%). The comparison was discovered statistical significance among the three groups (P<0.001), so the comparison between each group was.
CONCLUSIONHLAMachmaker of donor-recipients matching, is a more efficient, time-saving and high sensitivity matching solution to allograft renal transplantation.
Adolescent ; Adult ; Aged ; Female ; Histocompatibility Testing ; methods ; Humans ; Kidney Transplantation ; Male ; Middle Aged ; Software ; Transplantation, Homologous ; Young Adult
7.The changes in the mRNA levels of calcium regulatory proteins in ischemia/reperfusion rat ventricles.
Xia ZHENG ; Jian SUN ; Shen-Jiang HU ; Zao-Hui ZHU ; Guo-Zhong WANG ; Jiang LI ; Bi-Qi ZHANG
Chinese Journal of Applied Physiology 2006;22(2):142-146
AIMTo investigate the changes in the expression of four kinds of calcium regulatory proteins mRNA on the isolated ischemia/ reperfusion (IR) hearts.
METHODSThe rat hearts were divided into two groups: control group and IR group which received 45 min exposure to Krebs-Henseleit solution after 15 min zero-flow global ischemia. The indexes of left ventricular function, such as LVDP, +dp/dt(max), -dp/dt(max), and an arrhythmia scoring system were compared between the two groups. The messenger ribonucleic acid (mRNA) amount of sarcoplasmic reticulum (SR) Ca2+ ATPase (SERCA), phospholamban (PLB), inositol 1,4,5-trisphosphate receptor2 (IP3R2) and ryanodine receptor2 (RyR2) was measured by reverse transcription-polymerase chain reaction (RT-PCR) and normalized to the mRNA levels of beta-actin.
RESULTSIn the IR group, LVDP, +dp/dt(max) and -dp/dt(min) of the isolated hearts were depressed and the high rate of arrhythmias occurred during reperfusion. The levels of SERCA, IP3R2, RyR2 mRNA were lower in the IR isolated hearts group than those in the control group, while there was no difference in the level of phospholamban.
CONCLUSIONThese data suggest that myocardial ischemia/reperfusion can induce the depression of cardiac performance and an increased risk of arrhythmias, concomitant with the decrease in SERCA, IP3R2, RyR2 mRNA steady state levels.
Animals ; Myocardial Reperfusion Injury ; metabolism ; Myocardium ; metabolism ; RNA, Messenger ; genetics ; Rats ; Rats, Sprague-Dawley ; Sarcoplasmic Reticulum Calcium-Transporting ATPases ; genetics ; metabolism
8.Short-Term Outcomes and Safety of Computed Tomography-Guided Percutaneous Microwave Ablation of Solitary Adrenal Metastasis from Lung Cancer: A Multi-Center Retrospective Study.
Min MEN ; Xin YE ; Weijun FAN ; Kaixian ZHANG ; Jingwang BI ; Xia YANG ; Aimin ZHENG ; Guanghui HUANG ; Zhigang WEI
Korean Journal of Radiology 2016;17(6):864-873
OBJECTIVE: To retrospectively evaluate the short-term outcomes and safety of computed tomography (CT)-guided percutaneous microwave ablation (MWA) of solitary adrenal metastasis from lung cancer. MATERIALS AND METHODS: From May 2010 to April 2014, 31 patients with unilateral adrenal metastasis from lung cancer who were treated with CT-guided percutaneous MWA were enrolled. This study was conducted with approval from local Institutional Review Board. Clinical outcomes and complications of MWA were assessed. RESULTS: Their tumors ranged from 1.5 to 5.4 cm in diameter. After a median follow-up period of 11.1 months, primary efficacy rate was 90.3% (28/31). Local tumor progression was detected in 7 (22.6%) of 31 cases. Their median overall survival time was 12 months. The 1-year overall survival rate was 44.3%. Median local tumor progression-free survival time was 9 months. Local tumor progression-free survival rate was 77.4%. Of 36 MWA sessions, two (5.6%) had major complications (hypertensive crisis). CONCLUSION: CT-guided percutaneous MWA may be fairly safe and effective for treating solitary adrenal metastasis from lung cancer.
Disease-Free Survival
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Ethics Committees, Research
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Follow-Up Studies
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Humans
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Lung Neoplasms*
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Lung*
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Microwaves*
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Neoplasm Metastasis*
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Retrospective Studies*
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Survival Rate
9.Analysis of an hereditary protein C deficiency pedigree with compound heterozygous gene mutations.
Li-hong YANG ; Li-qing ZHU ; Xia-oli YANG ; Ming-shan WANG ; Jia LI ; Bi-cheng CHEN ; Yan-hui JIN ; Zhuo ZHANG ; Fang-xiu ZHENG
Chinese Journal of Medical Genetics 2012;29(5):515-518
OBJECTIVETo analyze genetic mutations and explore its molecular pathogenesis for an hereditary protein C (PC) deficiency pedigree.
METHODSThe pedigree has included 15 individuals from 4 generations. Plasma levels of PC activity (PC:A), PC antigen (PC:Ag) and other coagulant parameters were determined for members of the family. The 9 exons and intron-exon boundaries of protein C gene (PROC) of the proband were amplified with PCR and analyzed with direct sequencing. Detected mutations were confirmed with reverse sequencing. Corresponding PCR fragments from the family members were also directly sequenced.
RESULTSPlasma PC:A and PC:Ag for the proband was 26% and 18.60%, respectively, both being lower than normal references. Seven members from the pedigree also had lower PC:A, six had lower PC:Ag. A compound heterozygous missense mutation, including a T to G transition at position 6128 of exon 7, which results in Phe139Val, and a G to C transition at position 8478 in exon 9, which results in Asp255His, were identified in the proband. The paternal grandma, father and two aunts were heterozygous for g.6128 T to G, whilst the mother, the second uncle, sister and son were heterozygous for g.8478 G to C. There were lower PC:A in family members with g.8478 G to C.
CONCLUSIONThe proband had inherited two independent mutations of the PROC gene including g.6128 T to G in exon 7 and g.8478 G to C in exon 9 from her father and mother, respectively. The resulting compound heterozygous mutation has caused a serious hereditary protein C deficiency.
Humans ; Mutation ; Pedigree ; Protein C ; genetics ; Protein C Deficiency ; genetics
10.Evaluation of the efficacy and prognostic factors for colorectal liver metastases treated with transcatheter arterial chemoembolization.
Tao YE ; Yao-hui WANG ; Jing-lin XIA ; Bi-wei YANG ; Yi CHEN ; Ning-ling GE ; Yu-hong GAN ; Yan-hong WANG ; Zheng-gang REN
Chinese Journal of Oncology 2012;34(9):706-709
OBJECTIVEThe aim of this study was to evaluate the therapeutic efficacy and to determine the prognostic factors of TACE in patients with colorectal liver metastases (CRLM).
METHODSThe clinical data of 183 patients with unresectable CRLM treated with TACE from Jan. 2002 to Dec. 2008 were retrospectively reviewed. Log-rank method was used for univariate analysis and Cox proportional hazard model was used for multivariate analysis of the prognostic factors.
RESULTSThe median survival time was 22 months, and the 0.5-, 1-, 2-, 3-, 5-year survival rates were 93.9%, 81.1%, 39.8%, 18.2%, and 3.9%, respectively. Multivariate analysis showed that tumor involved more than one lobe of the liver, and elevated CEA and CA19-9 levels were independent risk factors for the overall survival (P < 0.01). Females, more times of TACE, combination with regional therapy and received phase II resection were related with a good survival (P < 0.01) in CRLM patients after TACE treatment.
CONCLUSIONSTranscatheter arterial chemoembolization is an effective therapy for unresectable colorectal liver metastases. Patients with tumor spread more than one lobe of the liver, high CEA and CA19-9 levels are independent poor prognostic factors. Females, patients received more times of TACE, combined with regional therapy and received phase II resection may have a good survival.
Adult ; Aged ; Aged, 80 and over ; Antigens, Tumor-Associated, Carbohydrate ; blood ; Carcinoembryonic Antigen ; blood ; Chemoembolization, Therapeutic ; Colonic Neoplasms ; pathology ; Female ; Fluorouracil ; administration & dosage ; Follow-Up Studies ; Humans ; Iodized Oil ; administration & dosage ; Liver Neoplasms ; blood ; secondary ; surgery ; therapy ; Male ; Middle Aged ; Mitomycin ; administration & dosage ; Organoplatinum Compounds ; administration & dosage ; Proportional Hazards Models ; Rectal Neoplasms ; pathology ; Retrospective Studies ; Survival Rate