Objective To explore the analysis of the relationship of the serum levels of focal adhe-sion kinase(FAK)and fatty acid-binding protein 4(FABP4)with myocardial injury and cardiac function in elderly patients with acute myocardial infarction(AMI).Methods A total of 211 AMI patients admitted to our hospital from January 2020 to April 2023 were enrolled and assigned into the AMI group,while another 60 healthy volunteers who took routine physical examinations in our hospital during the same period served as the control group.The serum FAK and FABP4 lev-els were compared between the two groups.Multivariate logistic regression analysis was employed to identify influencing factors associated with AMI,and ROC curve was plotted to assess the pre-dictive efficacy of the serum FAK and FABP4 levels for AMI in the elderly population.Pearson correlation analysis was conducted to explore the relationship between serum FAK and FABP4 levels and myocardial injury as well as cardiac function.Results The AMI group exhibited signifi-cantly elevated serum FAK,FABP4,CK-MB,cTnⅠ and CK levels,and larger LVESD and LVEDD,but lower LVEF when compared with the control group(P＜0.05,P＜0.01).For the AMI patients,the serum FAK and FABP4 levels were positively correlated with CK-MB,cTnⅠ and CK levels,as well as LVESD and LVEDD,and negatively with LVEF(P＜0.05).Multivariate logistic regression analysis revealed that both serum levels of FAK(OR=2.872,95％CI:2.230-3.698,P=0.000)and FABP4(OR=2.667,95％CI:1.713-4.154,P=0.000)were influencing factors for AMI.ROC analysis indicated that the cut-off value of FAK level for diagnosing AMI was 25.60 pg/L,with an AUC value of 0.801(95％CI:0.750-0.852).Similarly,the cut-off value of FABP4 in the diagnosis was 23.22 pg/L,with an AUC value of 0.760(95％CI:0.707-0.812).Combined FAK and FABP4 levels yielded,with an AUC value of 0.899(95％CI:0.839-0.918).Conclusion Serum FAK and FABP4 levels are abnormally high in the elderly patients with AMI,which is closely related to myocardial injury and cardiac function.The two indicators alone or in combination can effectively predict the occurrence of AMI.

Lamin B1 (LMNB1) is highly expressed in liver cancer tissues, and its influence and mechanism on the proliferation of hepatocellular carcinoma cells were explored by knocking down the expression of the protein. In liver cancer cells, siRNAs were used to knock down LMNB1. Knockdown effects were detected by Western blotting. Changes in telomerase activity were detected by telomeric repeat amplification protocol assay (TRAP) experiments. Telomere length changes were detected by quantitative real-time polymerase chain reaction (qPCR). CCK8, cloning formation, transwell and wound healing were performed to detect changes in its growth, invasion and migration capabilities. The lentiviral system was used to construct HepG2 cells that steadily knocked down LMNB1. Then the changes of telomere length and telomerase activity were detected, and the cell aging status was detected by SA-β-gal senescence staining. The effects of tumorigenesis were detected by nude mouse subcutaneous tumorigenesis experiments, subsequent histification staining of tumors, SA-β-gal senescence staining, fluorescence in situ hybridization (FISH) for telomere analysis and other experiments. Finally, the method of biogenesis analysis was used to find the expression of LMNB1 in clinical liver cancer tissues, and its relationship with clinical stages and patient survival. Knockdown of LMNB1 in HepG2 and Hep3B cells significantly reduced telomerase activity, cell proliferation, migration and invasion abilities. Experiments in cells and tumor formation in nude mice had demonstrated that stable knockdown of LMNB1 reduced telomerase activity, shortened telomere length, senesced cells, reduced cell tumorigenicity and KI-67 expression. Bioinformatics analysis showed that LMNB1 was highly expressed in liver cancer tissues and correlated with tumor stage and patient survival. In conclusion, LMNB1 is overexpressed in liver cancer cells, and it is expected to become an indicator for evaluating the clinical prognosis of liver cancer patients and a target for precise treatment.
Animals ; Mice ; Telomerase/metabolism* ; Carcinoma, Hepatocellular/genetics* ; Liver Neoplasms/genetics* ; Telomere Shortening ; In Situ Hybridization, Fluorescence ; Mice, Nude ; Telomere/pathology* ; Carcinogenesis

OBJECTIVE: To summarize the genetic characteristics of 671 Chinese pedigrees affected with Duchenne/Becker muscular dystrophy (DMD/BMD). METHODS: Clinical data of the pedigrees were collected. Multiplex PCR, multiple ligation dependent probe amplification (MLPA), next generation sequencing (NGS), Sanger sequencing and long read sequencing were used to detect the variant of DMD gene in the probands and their mothers, and prenatal diagnosis was provided for high risk pregnant women. RESULTS: Among 178 pedigrees analyzed by multiplex PCR, 44 variants of the DMD gene were detected, with the genetic diagnosis attained in 110 pedigrees. Among 493 pedigrees analyzed by MLPA in combination with NGS or Sanger sequencing, 294 pathogenic/possible pathogenic variants were identified, among which 45 were unreported previously, and the genetic diagnosis attained in 484 pedigrees. Structural variants of the DMD gene were identified in two pedigrees by long-read sequencing. Among 444 probands, 341 have inherited the DMD gene variant from their mothers (76.8%). Among 390 women with a high-risk, 339 have opted to have natural pregnancy and 51 chose preimplantation genetic testing for monogenetic disease (PGT-M). The detection rate of neonatal patients and carriers following natural pregnancy was significantly higher than that for PGT-M. CONCLUSION Combined application of MLPA, NGS, Sanger sequencing and long-read sequencing is an effective strategy to detect DMD/BMD. PGT-M can effectively reduce the risk of fetuses. Above finding has expanded the spectrum of DMD gene variants and provided a basis for reproductive intervention for pregnancies with a high risk for DMD/BMD.
China ; Dystrophin/genetics* ; Exons ; Female ; Genetic Testing ; Humans ; Infant, Newborn ; Multiplex Polymerase Chain Reaction ; Muscular Dystrophy, Duchenne/genetics* ; Mutation ; Pedigree ; Pregnancy ; Prenatal Diagnosis

OBJECTIVES: Our previous study has verified that high level of SET and MYND domain-containing protein 2 (SMYD2) plays an important role in acquiring aggressive ability for liver cancer cells in hepatocellular carcinoma. MiR-200b as a tumor suppressor gene involves in a variety of cancers. This study aims to investigate the correlation between miR-200b and SMYD2 in hepatocellular carcinoma and the underlying mechanism. METHODS: Firstly, the levels of SMYD2 and miR-200b in hepatocellular carcinoma tissues and matched adjacent non-tumor liver tissues were tested with real-time reverse transcription-polymerase chain reaction (RT-PCR) and Western blotting. Secondly, we evaluated the interaction between miR-200b and SMYD2 using dual-luciferase reporter assay. Thirdly, we elucidated the effect of miR-200b on SMYD2 and its downstream targets p53/CyclinE1. Finally, we silenced SMYD2 in hepatocellular carcinoma cell lines to investigate its effect on tumor proliferation and cell cycle progression, and further confirmed the correlation among SMYD2 and p53/CyclinE1. RESULTS: Compared with the matched adjacent non-tumor liver tissues, miR-200b was obviously decreased, and SMYD2 was significantly increased in hepatocellular carcinoma (both P<0.05). Spearman's rank correlation revealed that miR-200b expression was negatively correlated with SMYD2 (P<0.01). Computer algorithm and dual-luciferase reporter assay revealed that miR-200b directly targeted and suppressed SMYD2 in HEK 293T cells. The down-regulated miR-200b expression promoted hepatoma cell proliferation (P<0.05) and increased SMYD2 expression(P<0.01), while the up-regulated expression of miR-200b had an opposite effect. The knockdown of SMYD2 suppressed the proliferation of MHCC-97L cells (P<0.01), down-regulated CyclinE1, and up-regulated p53 expression (both P<0.05). CONCLUSIONS MiR-200b is involved in hepatocellular carcinoma progression via targeting SMYD2 and regulating SMYD2/p53/CyclinE1 signaling pathway and may be used as a potential target for hepatocellular carcinoma treatment.
Humans ; Carcinoma, Hepatocellular/pathology* ; Tumor Suppressor Protein p53/metabolism* ; MicroRNAs/metabolism* ; Cell Line, Tumor ; Signal Transduction ; Liver Neoplasms/pathology* ; Cell Proliferation/genetics* ; Histone-Lysine N-Methyltransferase/metabolism*

OBJECTIVE: To analyze the (CGG)n repeats of FMR1 gene among patients with unexplained mental retardation. METHODS: For 201 patients with unexplained mental retardation, the (CGG)n repeats of the FMR1 gene were analyzed by PCR and FragilEase RESULTS: For the 201 patients with unexplained mental retardation, 15 were identified with full mutations of the FMR1 gene. The prevalence of fragile X syndrome (FXS) in patients with unexplained mental retardation was determined as 7.5% (15/201). Prenatal diagnosis was provided for 6 pregnant women with pre- or full mutations. Analysis revealed that women with mental retardation and full FMR1 mutations exhibited a skewed XCI pattern with primary expression of the X chromosome carrying the mutant allele. CONCLUSION FXS has a high incidence among patients with unexplained mental retardation. Analysis of FMR1 gene (CGG)n repeats in patients with unexplained mental retardation can facilitate genetic counseling and prenatal diagnosis for their families. FMR1 gene (CGG)n repeats screening should be recommended for patients with unexplained mental retardation.
Female ; Fragile X Mental Retardation Protein/genetics* ; Fragile X Syndrome/genetics* ; Humans ; Intellectual Disability/genetics* ; Mutation ; Pregnancy ; Prenatal Diagnosis

Objective:To analyze the correlation of serum homocysteine(Hcy)levels with hematoma absorption and cognitive function in elderly patients with cerebral hemorrhage.Methods:Clinical data of 80 elderly patients with cerebral hemorrhage admitted to our hospital from January 2017 to July 2019 were retrospectively analyzed.According to serum levels of Hcy(normal range: <15 μmol/L), 21 patients with serum Hcy<15 μmol/L were included in Group A, and 59 patients with Hcy≥15 μmol/L were included in Group B. General data(gender, age, hypertension, diabetes, bleeding part, bleeding volume, etc.), hematoma absorption and cognitive function were recorded and compared between the two groups.The correlation of serum Hcy levels with hematoma absorption and cognitive function in elderly patients with cerebral hemorrhage was analyzed by using Spearman correlation analysis.Results:There was no statistical difference in gender, age, hypertension, diabetes, bleeding location and bleeding volume between the two groups.The speed of hematoma absorption and scores of Montreal Cognitive Assessment(MoCA)were higher in Group A than in Group B[(0.4±0.1)ml/d vs.(0.3±0.1)ml/d, (19.6±4.6)points vs.(16.3±3.3)points, t=3.935 and 3.532, both P=0.000]. Spearman correlation analysis showed that serum Hcy level was negatively correlated with hematoma absorption and cognitive function in elderly patients with cerebral hemorrhage( r=-0.372 and-0.311, P=0.000 and 0.005), indicating that hematoma absorption and cognitive function were worse with the higher serum Hcy levels in elderly patients with cerebral hemorrhage. Conclusions:Serum Hcy levels change in elderly patients with cerebral hemorrhage.As serum Hcy levels increase, the risk for adverse events such as slow hematoma absorption and unsatisfactory improvement in cognitive function in patients increases accordingly.Serum Hcy levels play an important role in the occurrence and development of diseases in elderly patients with cerebral hemorrhage and can be used to evaluate the condition and prognosis of patients with cerebral hemorrhage.

Hypoxia-inducible factor-α ( HIF-1α) is a regulatory protein in human body, which is closely related to the occurrence and development of cervical cancer. HIF-1α is an important factor affecting the radiosensitivity of cervical cancer. Many genes and proteins are involved in the regulation of radiosensitivity by HIF-1α. These genes and proteins are directly or indirectly affecting the efficacy of radiotherapy for cervical cancer. A lot of research is under way. This review summarizes the recent advances in genes and proteins associated with HIF-1α affecting radiosensitivity in cervical cancer.

Objective To investigate the complications of deep brain stimulation (DBS) internal pulse generator (IPG) replacement procedures and discuss the reasons,preventive measures and treatments.Methods From 2012 to 2016,285 procedures (according to the number of replacement IPG) were performed for 211 patients in our hospital.Among them,178 patients were with Parkinson's disease,29 patients were with dystonia,3 patients were with tic disorder,and one with essential tremor.Thirty-two patients previously used Medtronic replaced with local DBS with brand of PINC and Sceneray,and the other 179 patients remained the use of Medtronic brand.Furthermore,36 patients got extension cable reimplantation along with IPG replacements.Results Replacement surgeries were divided into 3 types:IPG replacement in situ;bilateral side single-channel IPG was replaced by double-channel IPG or double-channel IPG was replaced by bilateral single-channel IPG;extended cables and IPG replacement were carried out simultaneously.The follow up period was from one to 6 years for these 211 patients,and 15 got surgical-and hardware-related complications:6 with sack hemorrhage,2 with skin erosion,one with IPG rejection,3 with adaptor fracture,and 3 with impedance abnormality were recorded;no infection was noted.Twenty-six patients got significant improvement after new IPG replacement.Conclusions DBS IPG replacement operations is a regular surgery with certain safety.Personalized surgical procedures,rigorous intraoperative operation and correct postoperative management can effectively reduce and prevent the complications of IPG replacement surgery.

Objective:To observe the role of lamividine and silymarin preventing and curing liver fibrosisrelevant factors induced by alcohol drinking in hepatitis B virus (HBV) transgenic mice (Tg mice).Methods:Forty HBV-Tg BALB/C mice with 1.3 copy were randomly divided into 4 groups:a control group,a model group,a lamivudine group and a silymarin group.Tg mice in control group were treated with normal saline via intragastric administration;Tg-mice in the model group were treated with 50％ alcohol (5 mL/kg) once a day via intragastric administration;while Tg-mice in lamivudine group and silymarin group were treated with alcohol (5 mL/kg) plus laminvudine (100 mg/kg) and silymarin (200 mg/kg) once a day via intragastric administration respectively.All groups were raised for 10 weeks.The levels of HBV-DNA copy number,ALT,AST in serum,the degree of inflammation,the degree of fibrosis,the mRNA expression levels of TGF-β 1,Smad3,Smad7 and connective tissue growth factor (CTGF),and the protein expression levels of TGF-β1,CTGF and α-SMA in liver tissue were detected.All the images were scanned with electronic computer and the data were analyzed with SPSS13.0 software.Results:Compared with the control group,liver injury were significantly aggravated,while HBVDNA copies,mRNA levels ofTGF-β1,Smad3,Smad7 and CTGF as well as the protein levels of TGF-β1,CTGF and α-SMA were significantly increased (P＜0.05).Compared with the model group,liver injury were significantly attenuated in silymarine group and lamivudine group,while mRNA levels of TGF-β 1,Smad3 and CTGF as well as the protein levels of TGF-β1,CTGF and α-SMA were significantly decreased;mRNA level of Smad7 was further increased (P＜0.05);the levels of ALT and AST in serum were decreased in the silymarine group (P＜0.05).Conclusion:Lamivudine and silymarin relieve the histological damage in the liver of alcohol-fed Tg mice.The mechanisms for the beneficial effects of lamivudine or silymarin might be related to inhibiting the expression of TGF-β 1,Smad3 and CTGF,modulating the expression of Smads and suppressing the activation of HSC.

OBJECTIVE: To investigate the associations between chronic kidney disease (CKD) and body mass index (BMI), waist circumference(WC), waist-to-height ratio (WheiR) in Chinese adults.
 METHODS: A total of 26 655 participants, who voluntarily attended annual health examination at the Health Management Center in the Third Xiangya Hospital of Central South University from June 2013 to February 2014, were enrolled for this study. Logistic regression and receiver operating characteristic (ROC) curve analysis were performed.
 RESULTS: The prevalence rate of CKD was 9.6% and 3.1% in male and female subjects, respectively. Multivariate logistic regression analysis showed that BMI, WC and WheiR were independent risk factors for CKD in diabetic male and hypertensive male subjects (P<0.01). However, no association between these obesity indices and CKD was found in women after multivariate adjustment. In diabetic male subjects, when BMI≥28.7 kg/m(2), WC=90.7 cm and WheiR=0.56, the sensitivity and specificity prediction for CKD was 24.8%, 58.5%, 45.5% and 83.3%, 54.4%, 69.6%, respectively. In hypertensive male subjects, when the optimum cut-off points for BMI, WC and WheiR were ≥
27.0 kg/m(2), 91.2 cm and 0.54, the sensibility prediction for CKD were 41.0%, 47.0% and 50.1%, respectively, while the specificity prediction were 68.0%, 63.0% and 61.4%, respectively. The area under the ROC curve of BMI, WC, WheiR for CKD prediction were 0.56, 0.57, 0.59 in diabetic male subjects and 0.54, 0.56, 0.57 in hypertensive male subjects, respectively.
 CONCLUSION BMI, WC and WheiR are associated with the increased risk for CKD in diabetic or hypertensive male subjects. However, the value for these obesity indices is limited in screening CKD.
Adult ; Asian Continental Ancestry Group ; Body Mass Index ; Cross-Sectional Studies ; Diabetes Mellitus ; epidemiology ; Female ; Humans ; Hypertension ; epidemiology ; Logistic Models ; Male ; Multivariate Analysis ; Obesity ; epidemiology ; Prevalence ; ROC Curve ; Renal Insufficiency, Chronic ; diagnosis ; epidemiology ; Risk Factors ; Waist Circumference ; Waist-Height Ratio