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1.
J Neurol ; 2024 Jul 09.
Article in English | MEDLINE | ID: mdl-38981871

ABSTRACT

BACKGROUND: Anti leucine-rich, glioma inactivated 1 (LGI1) antibody-associated autoimmune encephalitis (AE) is the second most common AE, where the trafficking and recycling of the pathogenic immunoglobulin (IgG) can be controlled by the neonatal crystallizable fragment receptor (FcRn), making the latter as a candidate therapeutic target. Efgartigimod is an antagonist of FcRn, its ability to increase the degradation of IgGs and improve the health and quality of life of patients. ADAPT trail indicated its rapid efficacy and safety on myasthenia gravis. However, there is currently no case reported using efgartigimod for the treatment of anti-LGI1-associated AE. CASE DESCRIPTION: The patient presented with five episodes of generalized tonic-clonic seizures in the past 2 weeks. The patient had no abnormal signs on magnetic resonance imaging. Electroencephalogram examinations showed an increase in bilateral symmetric or asymmetric slow activity, without any clear epileptic waves. The cerebrospinal fluid (CSF) examination results indicated a slight increase in protein (47 mg/dL). The anti-LGI1 antibody titer in serum was 1:100 and that in CSF was 1:3.2. The treatment with intravenous methylprednisolone 1000 mg once a day combined with levetiracetam tablets failed to completely control the patient's seizures. Thus, 10 mg/kg efgartigimod was administered intravenously once a week for 2 weeks. After 2 weeks of treatment, serum levels of anti-LGI1 antibody and IgG decreased and the patient's epilepsy did not recur in the next 3 months. CONCLUSIONS: This is the first case report of using efgartigimod to treat anti-LGI1-associated AE. The combination of efgartigimod and methylprednisolone resulted in favorable outcomes, indicating that this is an optional treatment plan.

2.
Reprod Sci ; 29(9): 2536-2545, 2022 09.
Article in English | MEDLINE | ID: mdl-34773203

ABSTRACT

Rec ent studies have suggested a closer association between angiotensin-converting enzyme (ACE) gene polymorphisms and polycystic ovary syndrome (PCOS) risk, but the results were inconsistent. We conducted this meta-analysis to explore the precise associations between ACE gene I/D polymorphism and PCOS risk. Online electronic databases (PubMed, Embase, SCI index, CNKI, and Wanfang) were searched. Odds ratios (ORs) with 95% confidence interval (CIs) were calculated to assess the association between ACE gene I/D polymorphism and PCOS risk. In addition, heterogeneity, accumulative/sensitivity analysis, and publication bias were conducted to check the statistical power. Overall, 12 published case-control studies with 2248 patients and 1759 controls were included according to the criteria. Significant increased risk was found for PCOS susceptibility with I/D mutation (D vs. I: OR = 1.62, 95%CI = 1.24-2.11, P < 0.01, I2 = 86.1%; DD vs. II: OR = 2.10, 95%CI = 1.35-3.27, P < 0.01, I2 = 79.8%; ID + DD vs. II: OR = 1.57, 95%CI = 1.06-2.32, P = 0.02, I2 = 79.3%; DD vs. II + ID: OR = 1.91, 95%CI = 1.39-2.65, P < 0.01, I2 = 79.1%). Furthermore, some similar associations were also observed in subgroups. In summary, the current evidences indicated that ACE gene I/D polymorphism plays an important role in PCOS development, both in Asian and Caucasian descendants.


Subject(s)
Angiotensins , Polycystic Ovary Syndrome , Angiotensins/genetics , Female , Genetic Predisposition to Disease , Humans , Peptidyl-Dipeptidase A/genetics , Polycystic Ovary Syndrome/genetics , Polymorphism, Genetic
3.
J Stroke Cerebrovasc Dis ; 30(10): 106045, 2021 Oct.
Article in English | MEDLINE | ID: mdl-34418671

ABSTRACT

BACKGROUND: Matrix metalloproteinase 10 (MMP-10) has a close relationship with carotid atherosclerosis (CAS) and cerebral infarction. The MMP-10 rs17435959 polymorphism causes a leucine to valine transition at codon 4 in exon 1 of the MMP-10 gene and may have functional effects. OBJECTIVES: To investigate the relationship between the MMP-10 rs17435959 polymorphism and the formation and stability of CAS plaques. MATERIALS AND METHODS: The present case-control study contains 738 visitors who came to our health examination center for the first time. According to the carotid ultrasound examinations, visitors were classified into the vulnerable plaque group (41-86 years old, 141 male, 105 female), the stable plaque group (41-86 years old, 141 male, 105 female) and the no plaque group (41-85 years old, 141 male, 105 female). All visitors in the three groups were sex- and- age-matched, and cardiovascular and cerebrovascular diseases were absent. The polymorphism was genotyped by real-time polymerase chain reaction- restriction. RESULTS: Compared to the GG genotype, the frequency of the CC and CG genotypes was significantly more common in the vulnerable plaque group than in the no plaque group (18.7% vs. 7.7%, unadjusted P = 0.002). Moreover, compared to the G allele, the frequency of the C allele was significantly more common in the vulnerable plaque group than in the no plaque group (10.4% vs. 3.9%, unadjusted P = 0.000) and in the vulnerable plaque group than in the stable plaque group (10.4% vs. 5.1%, unadjusted P = 0.008). Binary logistic regression showed that the CC and CG genotype was independent risk factor for the formation (P = 0.019, OR = 1.961, 95% CI [1.117, 3.444]) and vulnerability (P = 0.035, OR = 1.842, 95% CI [1.045, 3.247]) of CAS plaques. Moreover, individuals who have the C allele showed a higher level of fibrinogen, which was an independent risk factor for the formation of CAS plaques (P = 0.000, OR = 2.425, 95% CI [1.475, 3.985]). CONCLUSIONS: The rs17435959 polymorphism was associated with the formation and vulnerability of CAS plaques. Individuals who had variant-type MMP-10 showed higher levels of fibrinogen, which promoted the formation of CAS plaques.


Subject(s)
Carotid Artery Diseases/genetics , Matrix Metalloproteinase 10/genetics , Plaque, Atherosclerotic , Polymorphism, Single Nucleotide , Adult , Aged , Aged, 80 and over , Carotid Artery Diseases/diagnostic imaging , Carotid Artery Diseases/enzymology , Case-Control Studies , Female , Fibrinogen/analysis , Gene Frequency , Genetic Association Studies , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Phenotype , Prognosis , Risk Assessment , Risk Factors , Rupture, Spontaneous
4.
Int J Clin Exp Med ; 7(7): 1684-91, 2014.
Article in English | MEDLINE | ID: mdl-25126165

ABSTRACT

BACKGROUND: Celastrol may have an anti-atherosclerosis effect. This study aimed to investigate if celastrol had an anti-AS effect using a rabbit experimental carotid atherosclerosis model. METHODS: Forty male Japanese white rabbits were divided into the sham group (normal diet), the model group (high fat diet), the group treated with celastrol (high fat diet) and the group treated with atorvastatin (high fat diet) randomly. The rabbits fed a high fat diet underwent balloon injury of the right common carotid artery and were treated with dimethyl sulfoxide (DMSO) (the model group, 3.5 ml/kg/d), celastrol and its dissolvent DMSO (the celastrol group, 1 mg/kg/d and 3.5 ml/kg/d) and atorvastatin and its dissolvent DMSO (the atorvastatin group, 2.5 mg/kg/d and 3.5 ml/kg/d) for 12 weeks by gavage. RESULTS: The ratio of the plaque area and the arterial wall cross-section area in the celastrol group was significantly less than the model group (P < 0.001), and there was no significant difference compared with the atorvastatin group. The serum level of LDL-C of the celastrol group was significantly lower than the model group (P = 0.014), and there was no significant difference compared with the atorvastatin group. The expression of VEGF in the celastrol group was significantly less compared with the model group (P = 0.014), whereas the expression of VEGF in the atorvastatin group and the model group showed no significant differences. CONCLUSION: Our findings suggest that celastrol effectively reduced the plaque ratio, decreased the serum levels of LDL and downregulated the expression of VEGF, suggesting an anti-AS effect of celastrol.

5.
Biomed Rep ; 2(3): 378-383, 2014 May.
Article in English | MEDLINE | ID: mdl-24748978

ABSTRACT

A number of published studies investigated the association between interleukin-1α (IL-1α) -899 (+4845) C→T polymorphism and susceptibility to aggressive periodontitis (AgP). However, the results from different studies are controversial. This study was conducted to further investigate the association between IL-1α -899 (+4845) C→T polymorphism and AgP using a meta-analysis. A search was conducted through PubMed up to May 1, 2013 and a total of 19 relevant case-control studies were identified. The results of this meta-analysis demonstrated that IL-1α -899 (+4845) C→T polymorphism is not associated with susceptibility to AgP under allele T vs. C [odds ratio (OR)=1.00, 95% confidence interval (CI): 0.88-1.14, P=0.98; I2=28.86%] or allele A vs. C comparison (OR=0.99, 95% CI: 0.85-1.14, P=0.85; I2=33.66%). The subgroup analyses based on ethnicity, source of controls and Hardy-Weinberg equilibrium (HWE) also revealed no such association. There existed a weak publication bias (Egger's test P=0.02). In conclusion, based on the currently available evidence, there is no association between IL-1α -899 (+4845) C→T polymorphism and susceptibility to AgP.

6.
Scand J Clin Lab Invest ; 74(3): 248-53, 2014 Apr.
Article in English | MEDLINE | ID: mdl-24472034

ABSTRACT

BACKGROUND: MMP 14 is expressed in atherosclerotic plaques and potentially plays an important role in the development of vulnerable carotid plaques. MMP 14 gene polymorphisms can influence the bioactivity or expression of MMP 14. OBJECTIVE: The aim of this study was to investigate the association between MMP 14 position + 7096 T > C (NM_004995.2:c.855T> C, rs2236307) polymorphism and vulnerable carotid plaque formation. METHODS: 1370 patients with ischemic cerebral infarctions were enrolled and divided into three groups according to their carotid ultrasound examination: No plaque group (n = 346), stable plaque group (n = 695) and vulnerable plaque group (n = 329). The traditional atherosclerosis risk factors were recorded, and the MMP 14 polymorphism were genotyped by Applied Biosystems 7300 Real-Time PCR System using the TaqMan assay. RESULTS: In the multiple logistic regression analysis done among the sub-groups, compared to no carotid plaque group, individuals with the MMP 14 position + 7096 TC+ CC genotype showed a significantly (p = 0.009) lower risk for vulnerable plaque (AOR = 0.675; 95% CI, 0.568-0.922) formation compared with subjects of the TT genotype; however, no relation between TC+ CC genotype and stable carotid plaque was observed (p > 0.125). Age was a risk factor for both stable plaque (p = 0.000; AOR = 3.732; 95% CI: 2.496-5.58) and vulnerable plaque formation (p = 0.001; AOR = 2.234; 95% CI: 1.387-3.597). Meanwhile, fibrinogen (> 4.0 g/L) was a risk factor for stable plaque (p = 0.004; AOR = 2.313; 95% CI: 1.308-4.091). CONCLUSIONS: The MMP 14 position + 7096 TC+ CC genotype might lower the risk of vulnerable carotid plaque formation. Fibrinogen (> 4.0 g/L) was a risk factor for stable plaque.


Subject(s)
Atherosclerosis/genetics , Cerebral Infarction/genetics , Matrix Metalloproteinase 14/genetics , Plaque, Atherosclerotic/genetics , Polymorphism, Genetic , Age Factors , Aged , Asian People , Atherosclerosis/blood , Atherosclerosis/diagnosis , Atherosclerosis/ethnology , Biomarkers/blood , Carotid Arteries/metabolism , Carotid Arteries/pathology , Cerebral Infarction/blood , Cerebral Infarction/diagnosis , Cerebral Infarction/ethnology , Female , Fibrinogen/metabolism , Gene Expression , Genetic Predisposition to Disease , Humans , Male , Middle Aged , Plaque, Atherosclerotic/blood , Plaque, Atherosclerotic/diagnosis , Plaque, Atherosclerotic/ethnology , Risk Factors
7.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 30(6): 711-5, 2013 Dec.
Article in Chinese | MEDLINE | ID: mdl-24327153

ABSTRACT

OBJECTIVE: To assess the association between 2 single nucleotide polymorphisms (SNPs) located in exonic regions of matrix metalloproteinase-10 (MMP-10) gene and instability of carotid plaques in a Han Chinese population. METHODS: Five hundred and eighty-five patients were divided into carotid vulnerable plaque group (n=206) and stable plaque group (n=379) based on results of carotid B-mode ultrasonography. The SNPs were genotyped by real-time polymerase chain reaction using an ABI 7300 TaqMan platform. RESULTS: The distribution of rs17435959 between the two groups was significantly different at both genotypic (GC+CC vs. GG, P=0.006, OR=2.012) and allelic levels (C vs. G, P=0.001,OR=2.160). Above differences have remained significant with binary logistic regression analysis (P=0.007, OR=2.022; P=0.002, OR=2.104). The minor allele frequency of rs17293607 was 0.56%. CONCLUSION: Above findings suggested that rs17435959 of the MMP-10 gene is associated with carotid vulnerable plaque in ethnic Chinese Hans. The C allele may be a susceptible predictor for carotid vulnerable plaque.


Subject(s)
Matrix Metalloproteinase 10/genetics , Plaque, Atherosclerotic/genetics , Aged , Aged, 80 and over , Asian People/genetics , Female , Genetic Predisposition to Disease , Genotype , Humans , Male , Middle Aged , Plaque, Atherosclerotic/enzymology , Polymorphism, Single Nucleotide
8.
Int J Clin Exp Med ; 6(7): 567-75, 2013.
Article in English | MEDLINE | ID: mdl-23936596

ABSTRACT

BACKGROUND: Matrix metalloproteinase 10 (MMP10) plays an important role in ischemic stroke and has a close relationship with some stroke risk factors. The aim of this study was to investigate the relationship between two single nucleotide polymorphisms (SNP) in the exon regions of the MMP10 gene and atherothrombotic cerebral infarction risk. METHODS: Five hundred and thirty-seven hospital-based patients who had suffered first atherothrombotic cerebral infarction and 580 unrelated healthy controls were enrolled. Demographic and clinical features of the subjects were recorded, and two polymorphisms, rs17435959 (G>C), rs17293607 (C>T) were chosen to be genotyped by real-time polymerase chain reaction-restriction TaqMan probes using the ABI 7300 TaqMan platform. RESULTS: There were several clinical parameters, such as blood pressure, fasting blood glucose, total cholesterol, homocysteine, as well as carotid plaque and smoking, but not average age and sex ratios that showed significant differences between patients and control subjects. For rs17435959, there was no significant difference between the ischemic stroke group and the healthy control group in genotype frequency (OR=1.295, P=0.187, 95% CI (0.882-1.899)) or allele frequency (OR=1.267, P=0.202, 95% CI (0.881-1.823)). Moreover, in smoking, none smoking, having carotid plaque, no carotid plaque, male or female subtypes, there was significant difference between patients and control subjects in genotype frequencies or allele frequencies. The minor allele frequency of rs17293607 was 0.92%, prohibiting further study of this allele. CONCLUSIONS: These findings suggest that the rs17435959 SNP may not associated with atherothrombotic cerebral infarction risk. We also found that rs17293607 is not polymorphic in our study population.

9.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi ; 29(1): 60-3, 2012 Feb.
Article in Chinese | MEDLINE | ID: mdl-22311494

ABSTRACT

OBJECTIVE: To investigate the association between a -799C/T polymorphism in the promotor region of matrix metalloproteinase-8 (MMP-8) gene and instability of carotid plaque in Chinese Han population. METHODS: A total of 451 acute infarction patients from the Department of Neurology of Taizhou Hospital were divided into carotid vulnerable plaque group and carotid stable plaque group according to the results of carotid B-mode ultrasonography. Serum MMP -8 level was measured by the means of enzyme-linked immunosorbent assay (ELISA). At the same time, the MMP-8 -799C/T polymorphism was determined by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. RESULTS: Serum level of MMP-8 in the carotid vulnerable plaque group was higher than that in the carotid stable plaque group (t= 2.894, P= 0.004). The genotype distribution of -799C/T polymorphism between the two groups was significantly different (Chi-square = 13.65, P= 0.000). Serum level of MMP-8 in patients with TT genotype was higher than that in patients with CC genotype (t= 3.141, P= 0.001). CONCLUSION: The present study suggested that serum level of MMP-8 and the -799C/T polymorphism of MMP-8 gene are associated with carotid vulnerable plaque in Chinese Han population, and the T allele may be a predictor for the susceptibility of carotid vulnerable plaque.


Subject(s)
Matrix Metalloproteinase 8/genetics , Plaque, Atherosclerotic/genetics , Aged , Base Sequence , Female , Genotype , Humans , Male , Molecular Sequence Data , Plaque, Atherosclerotic/enzymology , Plaque, Atherosclerotic/pathology , Polymorphism, Genetic , Promoter Regions, Genetic
10.
Vasc Med ; 16(1): 13-8, 2011 Feb.
Article in English | MEDLINE | ID: mdl-21471148

ABSTRACT

The aim of the current study was to explore the possible association of the polymorphism of C(-735)T in MMP-2 with the vulnerable plaque risk in ultrasound-confirmed carotid atherosclerosis cases. Serum MMP-2 levels were measured to investigate the relationship between the MMP-2 level and the genetic variability. The MMP-2 polymorphism was detected by PCR-RFLP in the 243 cases with stable plaque and 221 cases with vulnerable plaque. Serum MMP-2 levels were measured with ELISA. The results showed that MMP-2 was significantly higher in the cases with vulnerable plaque than in the cases with stable plaque. A statistical difference was found between the genotype distributions in the vulnerable plaque cases and that in the stable cases. T-allele frequency was also found to be over-represented in the stable plaque cases than in the vulnerable plaque cases, which might partially explain the observed difference in the serum MMP-2 levels in the different plaque cases. The current results also suggested that MMP-2 was a risk factor in the cases with vulnerable plaques, whereas TT genotype and T allele might be protective factors in the cases with vulnerable plaques.


Subject(s)
Asian People/genetics , Carotid Artery Diseases/genetics , Genetic Predisposition to Disease , Matrix Metalloproteinase 2/genetics , Plaque, Atherosclerotic/genetics , Polymorphism, Single Nucleotide/genetics , Aged , Carotid Artery Diseases/ethnology , Carotid Artery Diseases/physiopathology , China , Female , Genotype , Hemodynamics , Humans , Male , Matrix Metalloproteinase 2/metabolism , Plaque, Atherosclerotic/ethnology , Plaque, Atherosclerotic/physiopathology , Polymorphism, Restriction Fragment Length
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