Your browser doesn't support javascript.
loading
Show: 20 | 50 | 100
Results 1 - 16 de 16
Filter
1.
China Journal of Orthopaedics and Traumatology ; (12): 191-194, 2021.
Article in Chinese | WPRIM | ID: wpr-879395

ABSTRACT

Femorotibial mechanical axis (FTMA) is one of important factors influencing clinical effect after total knee arthroplasty (TKA). It is generally believed that the range of lower limb alignment after TKA is controlled within neutral FTMA ± 3 °, which has more advantages in improving joint function, prolonging prosthesis survival rate and reducing revision rate, and obtain better clinical results. Therefore, neutral FTMA is also considered to be the gold standard for TKA. However, with the application of computer-assisted surgery and other technologies, the alignment of FTMA is more accurate than before, but the clinical effect after surgery has not significantly improved. Some scholars have begun to question the necessity of neutral alignment of FTMA, and proposed alignment methods such as kinematics and retained residual deformity, which could achieve better clinical effects. In recent years, it has been reported that FTMA might not be the most important factor influencing postoperative clinical effects, and it is suggested that the arrangement and measurement of lower limbs and the effects on adjacent joint functions could affect clinical effect after TKA. The paper reviews neutral FTMA alignment is still an important factor for success of TKA. After a thorough evaluation according to the patient's condition, it should be appropriately applied in the case of neutral FTMA alignment; the operator should explore other factors which affect clinical outcome after TKA, and improve it to achieve the best therapeutic effect.


Subject(s)
Humans , Arthroplasty, Replacement, Knee , Biomechanical Phenomena , Knee Joint/surgery , Knee Prosthesis , Lower Extremity , Osteoarthritis, Knee/surgery , Prosthesis Failure , Surgery, Computer-Assisted
2.
China Journal of Orthopaedics and Traumatology ; (12): 1186-1190, 2021.
Article in Chinese | WPRIM | ID: wpr-921947

ABSTRACT

Knee osteoarthritis-associated bone marrow edema-like lesions (KOA-BMLs) is a common MRI imaging feature, which is mainly manifested as abnormal bone marrow hyperintensity in subchondral bone on T2 imaging. The formation of KOA-BMLs may be related to the abnormality of lower limb force line and subchondral bone perfusion, and related histopathological studies showed that the remodeling of bone and bone marrow in these damaged areas was abnormally increased. In KOA patients, the size of BMLs can fluctuate or even disappear in a relatively short period of time, and was closely related to pain, subchondral bone cyst formation, and the progression of KOA. However, the current treatment methods for KOA-BMLs are limited, and there is no uniform guideline or expert consensus, mainly includingmedication, physical therapy and surgical treatment. This article reviews the research progress of the disease characteristics and treatment of KOA-BMLs in order to provide guidance for the clinical diagnosis and treatment of KOA-BMLs.


Subject(s)
Humans , Bone Marrow/diagnostic imaging , Bone Marrow Diseases/diagnostic imaging , Edema/diagnostic imaging , Knee Joint , Magnetic Resonance Imaging , Osteoarthritis, Knee/diagnostic imaging
3.
Chinese Journal of Traumatology ; (6): 229-234, 2017.
Article in English | WPRIM | ID: wpr-330402

ABSTRACT

<p><b>PURPOSE</b>To compare the efficacy and safety of open reduction and internal fixation through ilioinguinal approach and Stoppa approach for the treatment of displaced acetabular fractures.</p><p><b>METHODS</b>Case-controlled trials (CCTs) published from January 2010 to August 2015 that compared the ilioinguinal approach and Stoppa approach in the management of displaced acetabular fractures were retrieved from the databases of Cochrane Library, Pubmed, CNKI, and so on. Methodological quality of the trials was critically assessed. Statistical software RevMan 5.0 was used for data analysis.</p><p><b>RESULTS</b>Eight articles were included in the meta-analysis. Through comparing the efficacy and safety of ilioinguinal approach and Stoppa approach in the treatment of displaced acetabular fracture, statistical significance was found in the average operation time [WMD = 68.29, 95% CI (10.52, 126.05), p < 0.05] and the median intraoperative blood loss [WMD = 142.26, 95% CI (9.30, 275.23), p < 0.05]. However, there existed no statistical significance in the fracture end reset satisfaction rate [RR = 0.63, 95% CI (0.17, 2.37), p > 0.05], the early complications rate [RR = 0.89, 95% CI (0.33, 2.40), p > 0.05], the late complications rate [RR = 0.91, 95% CI (0.27, 3.01), p > 0.05], and Harris hip score good function rate [RR = 0.52, 95% CI (0.25, 1.10), p > 0.05].</p><p><b>CONCLUSION</b>Though both techniques can obtain satisfactory clinical functions in the treatment of displaced acetabular fractures, Stoppa approach is superior to the ilioinguinal approach in terms of operation time and intraoperative blood loss.</p>

4.
Chinese Journal of Traumatology ; (6): 347-351, 2017.
Article in English | WPRIM | ID: wpr-330382

ABSTRACT

<p><b>PURPOSE</b>To compare the efficacy of quadratus femoris muscle pedicle bone flap transplantation combined with hollow compression screw fixation versus AO hollow compression screw fixation in the treatment of femoral neck fracture for Chinese young and middle-aged patients.</p><p><b>METHODS</b>Case-controlled studies (CCTs) were used to compare the two operative methods in the treatment of femoral neck fractures. Data were retrieved from the Cochrane Library, Pubmed Database, CNKI, Chinese Biomedical Database. Wanfang Data published during the period of January 2005 to December 2014. Methodological quality of the trials was critically assessed, and relevant data were extracted. Statistical Software Revman 5.0 was used for data-analysis.</p><p><b>RESULTS</b>Eight articles were included in the meta-analysis. The results showed that there was statistical significance in the rate of fracture healing [OR = 5.43, 95% CI (2.89, 10.20), p < 0.05], the rate of good function of hip joint [OR = 5.12, 95% CI (3.21, 8.17), p < 0.05], the rate of femoral head necrosis [OR = 4.21, 95% CI (2.02, 8.76), p < 0.05], the time of fracture healing [WMD = -46.85, 95% CI (-65.13, -28.56), p < 0.05] between the two groups.</p><p><b>CONCLUSIONS</b>For the treatment of femoral neck fractures, the transplantation of quadratus femoris muscle pedicle bone flap combined with hollow compression screw; fixation is superior to the AO hollow compression screw fixation in terms of the rate; of fracture healing, the rate of good function of hip joint, the rate of femoral head; necrosis and the time of fracture healing.</p>

5.
Chinese Journal of Traumatology ; (6): 362-367, 2016.
Article in English | WPRIM | ID: wpr-235708

ABSTRACT

<p><b>PURPOSE</b>To compare the efficacy of percutaneous poking reduction and fixationwith open reduction and fixation in the treatment of displaced calcaneal fractures.</p><p><b>METHODS</b>Reports of studies using case-controlled trials (CCT) to compare the percutaneous poking reduction and fixation with the open reduction and fixation in the management of calcaneal fractures were retrieved from the Cochrane Library, PubMed Database, CNKI, Chinese Biomedical Database, Wanfang Data (from January of 2005 to August of 2015). Methodological quality of the trials was critically assessed, and relevant data were extracted. Statistical software Revman 5.0 was used for data-analysis.</p><p><b>RESULTS</b>Fifteen articles were included in the meta-analysis. Comparison of the efficacy of percutaneous poking reduction and fixation with open reduction and fixation in the treatment of calcaneal fractures revealed statistical significance in the incidence of complications after operation [RR = 0.32, 95% CI (0.20, 0.5), p < 0.05]. However, there were neither statistical significance in the degrees of recovery for calcaneal Bohler angle [WMD = -1.65, 95% CI (-3.43, 0.14), p > 0.05] and calcaneal Gissane angle [WMD = -3.21, 95% CI (-6.75, 0.33), p > 0.05], nor statistical significance in the rate of good foot function after operation [RR= 0.95, 95% CI (0.90, 1.00), p > 0.05].</p><p><b>CONCLUSION</b>For the treatment of calcaneal fractures, percutaneous poking reduction and fixation is su- perior to open reduction and fixation in terms of the incidence of postoperative complications. But both techniques can obtain satisfactory clinical function.</p>


Subject(s)
Humans , Calcaneus , Wounds and Injuries , General Surgery , Fracture Fixation, Internal , Methods , Fractures, Bone , General Surgery , Open Fracture Reduction , Methods , Postoperative Complications , Epidemiology , Publication Bias
6.
Acta Pharmaceutica Sinica ; (12): 627-631, 2014.
Article in Chinese | WPRIM | ID: wpr-245036

ABSTRACT

Syl948 is a synthesized selective S1P1 agonist with novel structure. HTRF-IP1 test indicated that Syl948-P, the active form of Syl948 in vitro, has strong activity against S1P1 (EC50: 83 +/- 16 nmol x L(-1)), but its effect on S1P3 was very weak (EC50: 1 026 +/- 90 nmol x L(-1)). In SD rats, oral administration of Syl948 10 mg x kg(-1) significantly decreased the peripheral blood lymphocytes (PBL), with the maximal PBL inhibition rate of 63%, which was as similar as equal dose of fingolimod (FTY720). Oral administration of Syl948 10 mg x kg(-1) had no effect on heart rate of SD rats, which was better than FTY720. Daily oral administration with Syl948 (2 or 4 mg x kg(-1)) significantly prolonged the survival time of the allografts of skin slice on mice. In summary, the above results demonstrated that Syl948 has great selectivity in vitro and good activity in vivo, which indicated its potential use as an anti-rejection drug in skin transplantation.


Subject(s)
Animals , Mice , Rats , Fingolimod Hydrochloride , Graft Survival , Immunosuppressive Agents , Pharmacology , Lymphocytes , Propylene Glycols , Pharmacology , Receptors, Lysosphingolipid , Skin Transplantation , Sphingosine , Pharmacology , Transplantation, Homologous
7.
Acta Pharmaceutica Sinica ; (12): 896-904, 2014.
Article in Chinese | WPRIM | ID: wpr-244997

ABSTRACT

A novel series of fingolimod analogues containing diphenyl ether moiety were designed and synthesized based on the modification of immunosuppressive agent fingolimod used in the treatment of multiple sclerosis. Compounds were evaluated in vivo for lymphopenic activity and heart rate affection. Most compounds showed moderate lymphopenic activity. It is worth noting that compounds 6c, 6d and 14c-14e showed considerable immunosuppressive activities comparable to fingolimod. And compound 14e had no effect on heart rate.


Subject(s)
Animals , Fingolimod Hydrochloride , Pharmacology , Heart Rate , Immunosuppressive Agents , Chemistry , Lymphopenia , Pathology , Phenyl Ethers , Chemistry , Structure-Activity Relationship
8.
Acta Pharmaceutica Sinica ; (12): 7-17, 2012.
Article in Chinese | WPRIM | ID: wpr-323087

ABSTRACT

Sphingosine-1-phosphate (S1P) is a lysophospholipid signaling molecule that regulates important biological functions in both intracellular and extracellular compartments. It interacts with five G protein-coupled receptors subtypes (S1PR(1-5)) to generate multiple downstream signaling. Activation of S1PR1 has been validated to be involved in the process of immune modulation. Fingolimod (FTY720), the novel S1PR1 agonist, has been approved for the treatment of multiple sclerosis in clinical trials. The study towards discovery of selective S1PR1 agonists has become hot spot for immunological diseases. This article summarized the research progress of S1PR1 agonists, emphasizing their structure types, structure-activity relationship and direction of development.


Subject(s)
Animals , Humans , Fingolimod Hydrochloride , Immunosuppressive Agents , Pharmacology , Therapeutic Uses , Lysophospholipids , Physiology , Multiple Sclerosis , Drug Therapy , Propylene Glycols , Pharmacology , Therapeutic Uses , Receptors, Lysosphingolipid , Classification , Metabolism , Physiology , Sphingosine , Pharmacology , Physiology , Therapeutic Uses , Structure-Activity Relationship
9.
Chinese Medical Journal ; (24): 1498-1503, 2011.
Article in English | WPRIM | ID: wpr-353956

ABSTRACT

<p><b>BACKGROUND</b>Tumor necrosis factor-induced protein 3 (TNFAIP3) gene has been shown important in cardiac remodeling. The aim of the present study was to investigate whether the variants of TNFAIP3 gene are associated with left ventricular hypertrophy (LVH) in hypertensive patients.</p><p><b>METHODS</b>Four representatives of all the other single nucleotide polymorphisms (SNPs) in TNFAIP3 gene were tested for association with hypertrophy in two independent hypertensive populations (n = 2120 and n = 324).</p><p><b>RESULTS</b>We found that only the tag SNP (rs5029939) was consistently lower in the hypertensives with cardiac hypertrophy than in those without cardiac hypertrophy in the two study populations, indicating a protective effect on LVH (odds ratio (OR) (95% confidence interval (CI)) 0.58 (0.358 - 0.863), P = 0.035; OR (95%CI) = 0.477 (0.225 - 0.815), P < 0.05, respectively). Multiple regression analyses confirmed that the patients with G allele of rs5029939 had less thickness in inter-ventricular septum, left ventricular posterior wall, relative wall thickness and left ventricular mass index than did those with CC allele in the hypertensive patients in both study populations (all P < 0.01).</p><p><b>CONCLUSION</b>These findings indicate that the SNP (rs5029939) in the TNFAIP3 gene may serve as a novel protective genetic marker for the development of LVH in patients with hypertension.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Cross-Sectional Studies , DNA-Binding Proteins , Echocardiography , Genetic Predisposition to Disease , Genotype , Hypertension , Genetics , Hypertrophy, Left Ventricular , Genetics , Intracellular Signaling Peptides and Proteins , Genetics , Nuclear Proteins , Genetics , Phenotype , Polymorphism, Single Nucleotide , Genetics , Tumor Necrosis Factor alpha-Induced Protein 3
10.
Acta Pharmaceutica Sinica ; (12): 12-18, 2011.
Article in Chinese | WPRIM | ID: wpr-353336

ABSTRACT

Due to the complicated pathogenesis of cardiac arrhythmia, the safe and effective therapeutic strategies for cardiac arrhythmia remain an urgent medical problems in the recent years. In this paper, we introduced the research practice of anti-arrhythmic agents targeting on potassium ion channel. The research progress of anti-arrhythmic agents in up-to-date literatures were also reviewed and prospected.


Subject(s)
Animals , Humans , Amiodarone , Chemistry , Pharmacology , Therapeutic Uses , Anti-Arrhythmia Agents , Chemistry , Pharmacology , Therapeutic Uses , Arrhythmias, Cardiac , Drug Therapy , Hydantoins , Imidazolidines , Chemistry , Pharmacology , Therapeutic Uses , Molecular Structure , Piperazines , Chemistry , Pharmacology , Therapeutic Uses , Potassium Channel Blockers , Pharmacology , Therapeutic Uses , Potassium Channels
11.
Chinese Journal of Cardiology ; (12): 228-232, 2011.
Article in Chinese | WPRIM | ID: wpr-244017

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the clinical features in Chinese patients with apical hypertrophic cardiomyopathy (AHCM) and typical hypertrophic cardiomyopathy (HCM).</p><p><b>METHODS</b>This retrospective analysis included 160 patients hospitalized in Fuwai hospital. Patients were divided into three groups: apical hypertrophic cardiomyopathy (AHCM, n = 41) group, non-obstructive typical hypertrophic cardiomyopathy group [NOHCM, LVOT < 30 mm Hg (1 mm Hg = 0.133 kPa) at rest, n = 52] and obstructive typical hypertrophic cardiomyopathy (OHCM, LVOT ≥ 30 mm Hg at rest, n = 67). Clinical features, diagnosis, therapy, and plasma levels of biomarkers of these three groups were analyzed.</p><p><b>RESULTS</b>(1) The age at disease onset was older in AHCM group than in OHCM group [(49.9 ± 13.6) years vs. (41.4 ± 14.6) years, P < 0.01]. Exertional dyspnea appeared more often in HCM patients than in AHCM patients, NT-proBNP level was significantly lower in AHCM patients than in OHCM patients (P = 0.001). Plasma CK-MB, LDH, TnI and MYO levels were similar among the three groups. (2) Thirty-three AHCM patients were first hospitalized for suspected coronary heart disease (CHD) and CHD was excluded in 18 cases (43.9%). (3) The frequency of giant negative T waves (depth ≥ 10 mm) on ECG was 43.9%, 13.5% and 4.4% (P < 0.01) in AHCM, NOHCM and OHCM respectively. Half of AHCM patients showed left ventricular high voltage on ECG. (4) Cardiac magnetic resonance imaging is superior to echocardiography on correctly diagnosing AHCM.</p><p><b>CONCLUSION</b>AHCM patients differ from typical OHCM patients in clinical characteristics. There were significant differences on echocardiography and electrocardiography features among three groups. Cardiac magnetic resonance imaging and giant negative T waves on ECG are helpful for the diagnosis of AHCM.</p>


Subject(s)
Adult , Aged , Female , Humans , Male , Middle Aged , Asian People , Cardiomyopathy, Hypertrophic , Classification , Diagnosis , Echocardiography , Electrocardiography , Magnetic Resonance Imaging , Retrospective Studies
12.
Chinese Medical Journal ; (24): 188-192, 2010.
Article in English | WPRIM | ID: wpr-266002

ABSTRACT

<p><b>BACKGROUND</b>Hypertrophic cardiomyopathy (HCM) is a primary autosomal dominant inheritant myocardial disease with heterogeneity in clinical manifestations, natural history and prognosis. Even carrying an identical gene mutation among family members, a variety of clinical phenotypes have been found in patients with HCM. Modifier genes may contribute to the diversity. The plasma levels of atrial natriuretic peptides (ANP) were found previously to be elevated in HCM. Our studies suggested that ANP gene promoter polymorphism is associated with left ventricular hypertrophy in hypertension. The present study aimed to determine whether the two SNPs in the ANP gene are associated with HCM.</p><p><b>METHODS</b>We determined the relationships between the ANP gene polymorphism and HCM in 262 HCM patients and 614 age- and sex-matched healthy individuals. All of the subjects were genotyped for -A2843G and A188G polymorphisms.</p><p><b>RESULTS</b>The genotype frequency in the -A2843G and A188G polymorphisms of the ANP gene was not significantly different between the HCM patients and controls. The -A2843G and A188G polymorphisms were also not associated with clinical phenotype in cardiomyopathy patients.</p><p><b>CONCLUSIONS</b>The polymorphisms of the ANP gene are not associated with increasing risk of HCM or clinical phenotypes. The variations of the ANP gene may not serve as a genetic modifier for the development of HCM.</p>


Subject(s)
Adolescent , Adult , Aged , Aged, 80 and over , Female , Humans , Male , Middle Aged , Young Adult , Atrial Natriuretic Factor , Genetics , Cardiomyopathy, Hypertrophic , Genetics , Case-Control Studies , Echocardiography , Genotype , Linkage Disequilibrium , Phenotype , Polymorphism, Genetic , Genetics
13.
Chinese Medical Journal ; (24): 2652-2656, 2009.
Article in English | WPRIM | ID: wpr-307846

ABSTRACT

<p><b>BACKGROUND</b>The use of doxorubicin (DOX) is limited by its dose-dependent cardiotoxicity. Reactive oxygen species (ROSs) play an important role in the pathological process of DOX-induced cardiotoxicity. The aim of this study was to evaluate the protective effect of chrysoeriol, a flavone compound, against DOX-induced apoptosis and death in H9c2 cells and to find out its preliminary mechanism.</p><p><b>METHODS</b>We used 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyl-2H-tetrazolium bromide (MTT) assay, Hoechst33258 staining and measurement of lactate dehydrogenase (LDH) release to evaluate the protective effect of chrysoeriol against DOX-induced apoptosis and death in H9c2 cells. To find out the mechanism of this protective effect, we observed the immunofluorescence of intracellular ROS and measured the activities of malondialdehyde (MDA), superoxide dismutase (SOD) and glutathione peroxidase (GPx). Furthermore, we evaluated the effect of chrysoeriol on the antitumor activity of DOX in HeLa cells with MTT assay.</p><p><b>RESULTS</b>The results of MTT assay, Hoechst 33258 staining and measurement of LDH release showed that chrysoeriol significantly reduced doxorubicin-induced apoptosis and cell death. Chrysoeriol at a dose of 20 microg/ml notably reduced intracellular ROS, decreased the concentration of MDA in the supernatant of DOX-treated H9c2 cells and increased SOD and GPx activities to their normal levels. Further study showed that the addition of chrysoeriol did not affect the antitumor activity of DOX.</p><p><b>CONCLUSION</b>Chrysoeriol could potentially serve as a novel cardioprotective agent against DOX-induced cardiotoxicity without affecting the antitumor activity of DOX.</p>


Subject(s)
Animals , Humans , Rats , Antibiotics, Antineoplastic , Pharmacology , Cell Line , Cell Survival , Doxorubicin , Pharmacology , Flavones , Flavonoids , Chemistry , Pharmacology , Glutathione Peroxidase , Metabolism , HeLa Cells , Heart , L-Lactate Dehydrogenase , Metabolism , Molecular Structure , Myocytes, Cardiac , Reactive Oxygen Species , Metabolism , Superoxide Dismutase , Metabolism
14.
China Journal of Chinese Materia Medica ; (24): 1968-1971, 2008.
Article in Chinese | WPRIM | ID: wpr-252161

ABSTRACT

<p><b>OBJECTIVE</b>To establish a sensitive and specific HPLC fingerprint for the quality controlling of total flavonoids of Folium Apocyni Veneti.</p><p><b>METHOD</b>HPlC analysis was performed on a Kromasil C18 column (4.6 mm x 250 mm, 5 microm) with the mixture of solvent A [acetonitrile-phosphoric acid (95:5)] and solvent B (0.05% phosphoric acid) in gradient mode at a flow rate of 1.0 mL x min(-1). The detection wavelength was set at 360 nm. The column temperature was set at 25 degrees C and the injection volume was 20 microL.</p><p><b>RESULT</b>The chromatographic fingerprint of total flavonoids was established which showed 17 characteristic peaks from 7 patches of total flavonoids products. The similarity from different patches was 0.95-1.00 analyzed by the software of 'Computer-aided Similarity Evaluation' and showed high similitude in peak numbers and the retention time. Moreover, comparison of the HPLC profiles of the total flavonoids with the corresponding Folium Apocyni Veneti leaves indicated that they were closely related to each other.</p><p><b>CONCLUSION</b>The chromatographic fingerprint of the total flavonoids with high specificity and can be used to control its quality and assure the homogenicity for each patch of the total flavonoids.</p>


Subject(s)
Apocynum , Chemistry , Chromatography, High Pressure Liquid , Methods , Drugs, Chinese Herbal , Chemistry , Flavonoids , Chemistry , Reproducibility of Results
15.
Chinese Journal of Cardiology ; (12): 1059-1062, 2008.
Article in Chinese | WPRIM | ID: wpr-294809

ABSTRACT

<p><b>OBJECTIVE</b>To reveal genotype-phenotype correlation of disease-causing gene mutations in Chinese hypertrophic cardiomyopathy (HCM) pedigree.</p><p><b>METHODS</b>Peripheral venous blood samples were collected from two Chinese HCM families and 120 healthy subjects were recruited as normal control. The full encoding exons and flanking sequences of the cardiac troponin T gene (TNNT2), beta-myosin heavy chain gene (MYH7) and myosin binding protein C gene (MYBPC3) were amplified with the polymerase chain reaction method, DNA sequencing was used to detect the mutation.</p><p><b>RESULTS</b>In ZZJ family, mutation G12101A was identified in exon 21 of MYBPC3 gene in 4 family members [the arginine (R) converted to histidine (H)]. In this pedigree, three out of eight family members were diagnosed as HCM and with a penetrance of 75%. In FHL family, mutation G15391A was identified in exon 23 of MYH7 gene in 3 family members [the glutamic acid (E) converted to lysine (K)]. In this pedigree, three out of six family members were diagnosed as HCM and with a penetrance of 100%. Echocardiography showed obstruction of left ventricular outflow tract in two out of the three HCM patients.</p><p><b>CONCLUSIONS</b>Our results showed that the G12101A mutation of MYBPC3 gene is the causal mutation of familial HCM with mild phenotype. The G15391A mutation of MYH7 gene is the causal mutation of familial HCM with malignant phenotype and a penetrance of 100%. Screening mutations in the MYH7 gene should be viewed as a reasonable procedure in obstructive HCM patients.</p>


Subject(s)
Female , Humans , Male , Asian People , Genetics , Cardiac Myosins , Genetics , Cardiomyopathy, Hypertrophic, Familial , Ethnology , Genetics , Carrier Proteins , Genetics , DNA Mutational Analysis , Exons , Gene Frequency , Genotype , Mutation , Myosin Heavy Chains , Genetics , Pedigree , Phenotype , Troponin T , Genetics
16.
Chinese Journal of Cardiology ; (12): 875-879, 2005.
Article in Chinese | WPRIM | ID: wpr-253050

ABSTRACT

<p><b>OBJECTIVE</b>To examine the function of the novel mutation E82K in LMNA gene identified in a Chinese family infected by dilated cardiomyopathy.</p><p><b>METHODS</b>(1) One Chinese family infected by dilated cardiomyopathy was chosen for the study. Exons 1-12 of the LMNA gene were screened with both PCR method and the cycle sequencing of the PCR products. (2) cDNA of the E82K mutation or wild type of LMNA gene was transfected into HEK293 cells and the apoptosis of the cells was detected after treatment with 0.8 mmol/L H2O2.</p><p><b>RESULTS</b>(1) A new mutation E82K in LMNA gene was identified in this dilated cardiomyopathy family. (2) Apoptosis was more in the HEK293 cells transfected with E82K mutation than those with empty vector or wild type LMNA gene.</p><p><b>CONCLUSIONS</b>The missense mutation E82K in LMNA gene changed the polar of the amino acid. It showed a malignant phenotype of severe clinical symptoms, early onset, poor survival prognosis and might be associated with atrioventricular conduction block (II degrees-III degrees), suggesting that the E82K mutation in LMNA gene may be a candidate for nosogenesis of dilated cardiomyopathy.</p>


Subject(s)
Humans , Amino Acid Sequence , Cardiomyopathy, Dilated , Genetics , Cell Line , Exons , Lamin Type A , Genetics , Molecular Sequence Data , Mutation, Missense , Pedigree
SELECTION OF CITATIONS
SEARCH DETAIL