scholarly journals Genetic Association Analysis Between RNF213 Common Variants and Symptomatic Intracranial Atherosclerotic Stenosis in a Chinese Population

2021 ◽  
Author(s):  
Xi Li ◽  
Junyan Wang ◽  
Xiaoqing Zhou ◽  
Fang Yu ◽  
Xianjing Feng ◽  
...  
Keyword(s):  
Chinese Population ◽  
Rare Variants ◽  
Control Group ◽  
Common Mutation ◽  
Common Variants ◽  
Asian Populations ◽  
Intracranial Atherosclerotic Stenosis ◽  
Atherosclerotic Stenosis ◽  
Chi Squared ◽  
The Common

Abstract Background: RNF213 is the gene involved in symptomatic intracranial atherosclerotic stenosis (sICAS). The rare variants of this gene have a significant association with the clinical phenotype of the disease in the East Asian populations. However, the association between the common variants of RNF213 and sICAS has remained unclear. This study investigated the possible association between the common variants of RNF213 and sICAS in the Chinese population. Result: A total of 39 common variants of the RNF213 gene were detected. The chi-squared test revealed two sites (rs8082521 and rs55996424) at which the genotype frequency and the allele frequency were significantly different between the sICAS group and the healthy control group (P-value < 0.05). The haplotype analysis demonstrated that rs55996424 does not have haploids with the other nine SNPs, including rs8082521. Conclusion: The T allele of the RNF213 common mutation rs55996424 increases the risk of sICAS. Compared to females, males are more likely to carry the pathogenic allele.

scholarly journals Intravenous Tirofiban Infusion After Angioplasty and Stenting in Intracranial Atherosclerotic Stenosis-Related Stroke

Stroke ◽  
2021 ◽  
Vol 52 (5) ◽  
pp. 1601-1608
Author(s):  
Byung Hyun Baek ◽  
Woong Yoon ◽  
Yun Young Lee ◽  
Seul Kee Kim ◽  
Joon-Tae Kim ◽  
...  
Keyword(s):  
Intravenous Infusion ◽  
Large Vessel ◽  
Control Group ◽  
Large Vessel Occlusion ◽  
Vessel Occlusion ◽  
Good Outcome ◽  
Intracranial Atherosclerotic Stenosis ◽  
Atherosclerotic Stenosis ◽  
Case Series Study ◽  
Increased Risk

Background and Purpose: This study aimed to investigate the effectiveness and safety of intravenous infusion of tirofiban after emergent angioplasty with or without stenting in patients with intracranial atherosclerotic stenosis-related large-vessel occlusion stroke. Methods: We performed a retrospective case series study of 98 patients who underwent thrombectomy followed by angioplasty with or without stenting to treat intracranial atherosclerotic stenosis-related large-vessel occlusion. Patients were divided into 2 groups: those who received continuous intravenous infusion of tirofiban for 12 hours after procedure (intravenous tirofiban group, n=30) and those who did not receive postprocedural intravenous tirofiban (control group, n=68). The following treatment outcomes in the 2 groups were compared: early reocclusion of treated arteries on computed tomography angiography, parenchymal hematoma, symptomatic hemorrhage, and 90-day functional outcome. Results: Early reocclusion occurred in 18 patients (18.4%). The rate of early reocclusion was significantly lower in the intravenous tirofiban group than in the control group (3.3% versus 25%, P <0.001). The rates of parenchymal hematoma, symptomatic hemorrhage, 90-day good outcome, and mortality were not significantly different between the 2 groups. In multivariate logistic analysis, the only independent predictor of early reocclusion was no use of intravenous tirofiban (odds ratio, 9.212 [95% CI, 1.155–73.495], P =0.036). A good outcome (90-day modified Rankin Scale score of 0–2) was significantly less frequent in patients with early reocclusion than in those without it (16.7% versus 72.5%, P <0.001). Conclusions: The use of intravenous tirofiban for 12 hours was associated with decreased risk of early reocclusion of treated arteries, with no increased risk of hemorrhage after emergent angioplasty, with or without stenting, in patients with intracranial atherosclerotic stenosis-related large-vessel occlusion stroke. Early reocclusion was associated with a poor outcome in such cases.

scholarly journals Genetic Analysis of the ZNF804A Gene in Mexican Patients With Schizophrenia, Schizoaffective Disorder and Bipolar Disorder 

2021 ◽  
Author(s):  
LUCIA MUNCH ANGUIANO ◽  
Beatriz Camarena ◽  
Jesica Nieto-Quinto ◽  
Patricia de la Torre ◽  
Juan Pedro Laclette ◽  
...  
Keyword(s):  
Bipolar Disorder ◽  
Sequence Analysis ◽  
Schizoaffective Disorder ◽  
Rare Variants ◽  
Pleiotropic Effect ◽  
Control Group ◽  
Common Variants ◽  
Risk Variants ◽  
Sanger Sequence ◽  
Mexican Patients

Abstract Background: Evidence suggests that Schizophrenia (SCZ), Schizoaffective Disorder (SAD) and Bipolar Disorder (BPD) share genetic risk variants. ZNF804A gene has been associated with these disorders in different populations. The aim was to analyze the rs1344706 SNP and identify common and rare variants in a targeted region of the ZNF804A gene in SCZ, BPD and SAD Mexican patients compared with a control group.Methods: We genotyped the rs1344706 in 228 Mexican patients diagnosed with SCZ, SAD and BPD, and 295 controls. An additional sample of 167 patients and 170 controls was analyzed to identify rare and common variants using the Sanger-sequence analysis of a targeted region of ZNF804A gene. Results: We replicated the association between the rs1344706 and SCZ, SAD and BPD. In the sequence analysis, we did not identify rare variants; however, we identified three common variants: rs3046266, rs1366842 and rs12477430. A comparison of the three identified variants between SCZ, SAD and BPD did not show statistical differences. Conclusions: Our findings support the evidence suggesting that ZNF804A gene is involved in the etiology of SZC, SAD and BPD. Future studies are needed to identify the pleiotropic effect of this gene in psychiatric disorders.

Periprocedural risk and long-term outcome of intracranial angioplasty based on a single-centre experience

VASA ◽  
2013 ◽  
Vol 42 (4) ◽  
pp. 264-274
Author(s):  
Dagmar Krajíčková ◽  
Antonín Krajina ◽  
Miroslav Lojík ◽  
Martina Mulačová ◽  
Martin Vališ
Keyword(s):  
Death Rate ◽  
Long Term Outcomes ◽  
Single Centre ◽  
Intracranial Atherosclerotic Stenosis ◽  
Atherosclerotic Stenosis ◽  
Angioplasty And Stenting ◽  
Aggressive Medical Management ◽  
Stroke Death

Background: Intracranial atherosclerotic stenosis is a major cause of stroke and yet there are currently no proven effective treatments for it. The SAMMPRIS trial, comparing aggressive medical management alone with aggressive medical management combined with intracranial angioplasty and stenting, was prematurely halted when an unexpectedly high rate of periprocedural events was found in the endovascular arm. The goal of our study is to report the immediate and long-term outcomes of patients with ≥ 70 % symptomatic intracranial atherosclerotic stenosis treated with balloon angioplasty and stent placement in a single centre. Patients and methods: This is a retrospective review of 37 consecutive patients with 42 procedures of ballon angioplasty and stenting for intracranial atherosclerotic stenosis (≥ 70 % stenosis) treated between 1999 and 2012. Technical success (residual stenosis ≤ 50 %), periprocedural success (no vascular complications within 72 hours), and long-term outcomes are reported. Results: Technical and periprocedural success was achieved in 90.5 % of patients. The within 72 hours periprocedural stroke/death rate was 7.1 % (4.8 % intracranial haemorrhage), and the 30-day stroke/death rate was 9.5 %. Thirty patients (81 %) had clinical follow-up at ≥ 6 months. During follow-up, 5 patients developed 6 ischemic events; 5 of them (17 %) were ipsilateral. The restenosis rate was 27 %, and the retreatment rate was 12 %. Conclusions: Our outcomes of the balloon angioplasty/stent placement for intracranial atherosclerotic stenosis are better than those in the SAMMPRIS study and compare favourably with those in large registries and observational studies.

Motives of espionage against ones own country in the light of idiographic studies

2011 ◽  
Vol 42 (1) ◽  
pp. 1-4 ◽  
Author(s):  
Sebastian Michalak
Keyword(s):  
Common Sense ◽  
Control Group ◽  
Common Denominator ◽  
Methodological Problems ◽  
The Common

Motives of espionage against ones own country in the light of idiographic studies The money is perceived as the common denominator among people who have spied against their own country. This assumption is common sense and appears to be self-evident truth. But do we have any hard evidences to prove the validity of such a statement? What method could be applied to determine it? This article is a review of the motives behind one's resorting to spying activity which is a complex and multifarious process. I decided to present only the phenomenon of spying for another country. The studies on the motives behind taking up spying activity are idiographic in character. One of the basic methodological problems to be faced by the researchers of this problem is an inaccessibility of a control group.

Symptomatic and asymptomatic intracranial atherosclerotic stenosis: 3 years’ prospective study

2020 ◽  
Vol 267 (6) ◽  
pp. 1687-1698 ◽  
Author(s):  
Urs Fischer ◽  
Kety Hsieh-Meister ◽  
Frauke Kellner-Weldon ◽  
Aikaterini Galimanis ◽  
Xin Yan ◽  
...  
Keyword(s):  
Prospective Study ◽  
Intracranial Atherosclerotic Stenosis ◽  
Atherosclerotic Stenosis

scholarly journals PARP1 rs1136410 Val762Ala contributes to an increased risk of overall cancer in the East Asian population: a meta-analysis

2021 ◽  
Vol 49 (3) ◽  
pp. 030006052199295
Author(s):  
Yijuan Xin ◽  
Liu Yang ◽  
Mingquan Su ◽  
Xiaoli Cheng ◽  
Lin Zhu ◽  
...  
Keyword(s):  
Cancer Risk ◽  
Odds Ratio ◽  
Chinese Population ◽  
Meta Analysis ◽  
Asian Population ◽  
Cancer Type ◽  
East Asians ◽  
Asian Populations ◽  
Increased Risk ◽  
Meta Analyses

Objectives To investigate the association between poly(ADP-ribose) polymerase 1 ( PARP1) rs1136410 Val762Ala and cancer risk in Asian populations, as published findings remain controversial. Methods The PubMed and EMBASE databases were searched, and references of identified studies and reviews were screened, to find relevant studies. Meta-analyses were performed to evaluate the association between PARP1 rs1136410 Val762Ala and cancer risk, reported as odds ratio (OR) and 95% confidence interval (CI). Results A total of 24 studies with 8 926 cases and 15 295 controls were included. Overall, a significant association was found between PARP1 rs1136410 Val762Ala and cancer risk in East Asians (homozygous: OR 1.19, 95% CI 1.06, 1.35; heterozygous: OR 1.10, 95% CI 1.04, 1.17; recessive: OR 1.13, 95% CI 1.02, 1.25; dominant: OR 1.13, 95% CI 1.06, 1.19; and allele comparison: OR 1.09, 95% CI 1.03, 1.15). Stratification analyses by race and cancer type revealed similar results for gastric cancer among the Chinese population. Conclusion The findings suggest that PARP1 rs1136410 Val762Ala may be significantly associated with an increased cancer risk in Asians, particularly the Chinese population.

scholarly journals Frequency-Following Response (FFR) in Military Pilots

2020 ◽  
Author(s):  
Graziela Maria Martins-Moreira ◽  
Alessandra Spada Durante
Keyword(s):  
Pure Tone Audiometry ◽  
Control Group ◽  
Study Group ◽  
Aircraft Accidents ◽  
Frequency Following Response ◽  
Significant Difference ◽  
Qualitative Variables ◽  
Chi Squared ◽  
The Right ◽  
Military Pilots

Abstract Introduction Good hearing in pilots, including central auditory skills, is critical for flight safety and the prevention of aircraft accidents. Pure tone audiometry alone may not be enough to assess hearing in the members of this population who, in addition to high noise levels, routinely face speech recognition tasks in non-ideal conditions. Objective To characterize the frequency-following response (FFR) of a group of military pilots compared with a control group. Methods Twenty military pilots in the Study Group and 20 non-pilot military personnel, not exposed to noise in their work, in the Control Group, all with normal hearing, aged between 30 and 40 years old, completed a questionnaire to assess their hearing habits, and their FFRs were measured with a /da/ syllable (duration 40 milliseconds, speed 10.9/s), at 80 dB NA in the right ear. All procedures were approved by the ethical committee of the institution. Statistical analysis was performed using the t-Student or Mann-Whitney tests for quantitative variables, and the Fisher or chi-squared tests for qualitative variables, and a value of p < 0.05 was considered to be statistically significant. Results There was no significant difference between the groups regarding auditory habits. In the FFR, wave amplitudes A (p = 0.01) and C (p = 0.04) were significantly lower in the Study Group. Conclusion Working as a military pilot can be a crucial factor in determining an individual's typical FFR pattern, demonstrated in the present study by statistically significant reductions in the amplitudes of the A and C waves.

Common variants in IL17F gene contributed to the risk of hip osteoarthritis susceptibility in Han Chinese population

2020 ◽  
Vol 23 (8) ◽  
pp. 1050-1056
Author(s):  
Tianyun Zhao ◽  
Chi Ma ◽  
Wei Wang ◽  
Bin Zhao ◽  
Baopin Xie ◽  
...  
Keyword(s):  
Chinese Population ◽  
Hip Osteoarthritis ◽  
Han Chinese ◽  
Common Variants ◽  
Han Chinese Population

scholarly journals Role of CASP7 polymorphisms in noise-induced hearing loss risk in Han Chinese population

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Yanmei Ruan ◽  
Jinwei Zhang ◽  
Shiqi Mai ◽  
Wenfeng Zeng ◽  
Lili Huang ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Chinese Population ◽  
Conditional Logistic Regression ◽  
Han Chinese ◽  
Control Group ◽  
Environment Interaction ◽  
Noise Induced Hearing Loss ◽  
Han Chinese Population ◽  
Hearing Thresholds ◽  
Increased Risk

AbstractGenetic factors and gene-environment interaction may play an important role in the development of noise induced hearing loss (NIHL). 191 cases and 191 controls were selected by case–control study. Among them, case groups were screened from workers exposed to noise in binaural high-frequency hearing thresholds greater than 25 dB (A). Workers with hearing thresholds ≤ 25 dB (A) in any binaural frequency band were selected to the control group, based on matching factors such as age, exposure time to noise, and operating position. The blood samples from two groups of workers were subjected to DNA extraction and SNP sequencing of CASP3 and CASP7 genes using the polymerase chain reaction ligase detection reaction method. Conditional logistic regression correction was used to analyze the genetic variation associated with susceptibility to NIHL. There was an association between rs2227310 and rs4353229 of the CASP7 gene and the risk of NIHL. Compared with the GG genotype, the CC genotype of rs2227310 reduced the risk of NIHL. Compared with CC genotype, the TT genotype of rs4353229 reduced the risk of NIHL. Workers carrying the rs2227310GG and rs4353229CC genotype had an increased risk of NIHL compared to workers without any high-risk genotype. There were additive interaction and multiplication interaction between CASP7rs2227310 and CNE, and the same interaction between CASP7rs4353229 and CNE. The interaction between the CASP7 gene and CNE significantly increased the risk of NIHL. The genetic polymorphisms of CASP7rs2227310GG and CASP7rs4353229CC were associated with an increased risk of NIHL in Han Chinese population and have the potential to act as biomarkers for noise-exposed workers.

scholarly journals Glutathione S-transferase Omega 2 DD genotype is associated with an increased risk of sporadic amyotrophic lateral sclerosis in Chinese men

2021 ◽  
Vol 49 (7) ◽  
pp. 030006052110332
Author(s):  
Zhiliang Fan ◽  
Hong Jiang ◽  
Xueqin Song ◽  
Yansu Guo ◽  
Xinying Tian
Keyword(s):  
Amyotrophic Lateral Sclerosis ◽  
Healthy Subjects ◽  
Chinese Population ◽  
Sporadic Amyotrophic Lateral Sclerosis ◽  
Glutathione S Transferase ◽  
Genotype Frequencies ◽  
Sporadic Als ◽  
Increased Risk ◽  
Chi Squared ◽  
Lateral Sclerosis

Objective To investigate whether GSTA1, GSTO2, and GSTZ1 are relevant to an increased risk of amyotrophic lateral sclerosis (ALS) in a Chinese population. Methods In this study, 143 sporadic ALS (sALS) patients (83 men, 60 women) and 210 age- and sex-matched healthy subjects were enrolled. Blood samples were collected by venipuncture. Genomic DNA was isolated by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) according to the manufacturer’s instructions. The potential associations between ALS and GSTA1, GSTO2, and GSTZ1 polymorphisms were estimated using chi-squared analysis and unconditional logistic regression. Results The D allele and genotype frequencies of GSTO2 were increased in sALS patients compared with healthy subjects, indicating that the GSTO2 DD genotype was associated with an increased risk of sALS (odds ratio [OR] = 3.294, 95% confidence interval [CI] = 1.039–10.448). However, a significant association between the DD genotype and the risk of sALS was evident in men only (OR = 7.167, 95% CI = 1.381–37.202). Conclusion This study revealed that the D allele and genotype frequencies of GSTO2 were increased in sALS patients. The GSTO2 DD genotype was associated with an increased risk of sALS in men in a Chinese population.

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