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Article ; Online: Neuronal intranuclear inclusion disease with cortical involvement in left hemisphere: a case report.

Wu, Xiao-Ju / Jiang, Yi-Ying / Chen, Li-Jie / Zhou, Guo-Qiu / Mo, Dong-Can / Liu, Liu-Yu / Li, Jian-Li / Li, Xiao-Ling / Tang, Yu-Lan / Luo, Man

Wiener klinische Wochenschrift

2023 Volume 136, Issue 1-2, Page(s) 67–72

Abstract: Background: Neuronal intranuclear inclusion disease (NIID) is a rare highly heterogeneous disease. In this paper, we present a case of NIID featured in cortical involvement in left hemisphere of brain and the imaging changes in the process of the ... ...

Abstract	Background: Neuronal intranuclear inclusion disease (NIID) is a rare highly heterogeneous disease. In this paper, we present a case of NIID featured in cortical involvement in left hemisphere of brain and the imaging changes in the process of the disease. Case presentation: A 57-year-old female was hospitalized due to recurrent attacks of headache with cognitive impairment and tremor for 2 years. The symptoms of headache episodes were reversible. The characteristic radiologic change was high intensity signal involving the grey matter-white matter junction on the brain diffusion-weighted imaging (DWI), which existed in the frontal lobe and then extended backwards. Atypical features on fluid-attenuated inversion recovery (FLAIR) sequences showing small patchy high signals in the cerebellar vermis. High signals and edema were detected on FLAIR images along the cortex of the left occipito-parieto-temporal lobes, expanding and gradually shrinking in the follow-up visit. Besides, cerebral atrophy and bilateral symmetrical leukoencephalopathy were also detected. Skin biopsy and genetic testing confirmed the diagnosis of NIID. Conclusion: Except for typical radiological change strongly suggesting NIID, it is also necessary to notice the insidious symptoms of NIID combining with some atypical imaging features to make an early diagnosis. Skin biopsies or genetic testing should be carried out early in patients with highly suspected NIID.
MeSH term(s)	Female ; Humans ; Middle Aged ; Neurodegenerative Diseases/complications ; Neurodegenerative Diseases/diagnosis ; Neurodegenerative Diseases/pathology ; Magnetic Resonance Imaging ; Diffusion Magnetic Resonance Imaging ; Headache
Language	English
Publishing date	2023-06-30
Publishing country	Austria
Document type	Case Reports ; Journal Article
ZDB-ID	200462-8
ISSN	1613-7671 ; 0043-5325 ; 0300-5178
ISSN (online)	1613-7671
ISSN	0043-5325 ; 0300-5178
DOI	10.1007/s00508-023-02232-1
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Zs.A 902: Show issues

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Article ; Online: Angiotensin-Converting Enzyme Insertion/Deletion Polymorphism and the Risk of Leukoaraiosis in a South Chinese Han Population: A Case-Control Study.

Mo, Dong-Can / Wu, Xiao-Ju / Li, Xiao-Ling / Liu, Liu-Yu / Jiang, Yi-Ying / Zhou, Guo-Qiu / Chen, Li-Jie / Li, Jiao-Xing / Luo, Man

Biochemical genetics

2023

Abstract: Leukoaraiosis (LA) appears as white matter hyperintensities on T2-weighted brain magnetic resonance imaging scans. Age and hypertension are considered the primary risk factors for LA, but its pathogenesis remains uncertain. This study aims to investigate ...

Abstract	Leukoaraiosis (LA) appears as white matter hyperintensities on T2-weighted brain magnetic resonance imaging scans. Age and hypertension are considered the primary risk factors for LA, but its pathogenesis remains uncertain. This study aims to investigate the correlation between the angiotensin-converting enzyme (ACE) insertion/deletion (I/D) polymorphism and LA. A total of 140 patients with LA and 136 neuroimaging alteration-free controls were recruited in a case-control study. ACE I/D polymorphism was determined using the polymerase chain reaction method. The allele and genotype distributions of the ACE I/D polymorphism were significantly different between subjects with and without LA. Significant difference was observed in the genotypic distribution between LA patients and controls for recessive and additive models. A statistically significant association remained apparent after adjusting for potential risk factors (D/D vs. I/D + I/I: adjusted OR 3.251, 95% CI 1.185-8.918; D/D vs. I/I: adjusted OR 3.277, 95% CI 1.187-9.047). Our results indicate that the D/D genotype and D allele are important risk factors for LA. Future studies with larger populations are needed to validate our results.
Language	English
Publishing date	2023-11-01
Publishing country	United States
Document type	Journal Article
ZDB-ID	2168-4
ISSN	1573-4927 ; 0006-2928
ISSN (online)	1573-4927
ISSN	0006-2928
DOI	10.1007/s10528-023-10505-7
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Zs.A 578: Show issues

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Article: Association between polymorphisms in ABO gene and stroke patients with small artery occlusion in southern Chinese Han population

Jiang, Yi-ying / Li, Jian-li / Liu, Liu-yu / Zhou, Guo-qiu / Mo, Dong-can / Jiang, Dong-dong / Luo, Man

Gene. 2021 Feb. 15, v. 769

2021

Abstract: The purpose of this study was to investigate associations between two single nucleotide polymorphisms (SNPs) rs505922 and rs532436 in ABO gene and the risk of small artery occlusion stroke (SAO) in southern Chinese Han population.Our case-control study ... ...

Abstract	The purpose of this study was to investigate associations between two single nucleotide polymorphisms (SNPs) rs505922 and rs532436 in ABO gene and the risk of small artery occlusion stroke (SAO) in southern Chinese Han population.Our case-control study comprising 121 patients with SAO and 136 controls. All participants were Han population of southern China. IS sub-type was defined on the basis of the TOAST criteria. SAO was strictly diagnosed after a systematic physical examination and neuroimaging via MRI. Genotype analysis was conducted by the snapshot technique.The distribution of rs532436 genotype between these two groups showed a statistically significant difference (P = 0.048) while that of rs505922 genotype showed no significant difference (P = 0.572). SNP rs532436 was significantly associated with SAO in overdominant model (GA vs. GG + AA) after adjusting for age, hypertension history, diabetes history and cigarette smoking (adjusted OR = 2.03, 95% CI: 1.14–3.62, P = 0.016). However, under all genetic models, the rs505922 polymorphism failed to show association with SAO.The resultsindicate that rs532436 polymorphism in ABO gene may have association with SAO in southern Chinese Han population.
Keywords	Chinese people ; age ; case-control studies ; clinical examination ; diabetes ; genes ; genetic models ; genotype ; history ; hypertension ; patients ; polymorphism ; population ; risk ; single nucleotide polymorphism ; smoking (habit) ; stroke ; China
Language	English
Dates of publication	2021-0215
Publishing place	Elsevier B.V.
Document type	Article
Note	NAL-light
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2020.145211
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Article ; Online: Efficacy and Safety Assessment of Rivaroxaban for the Treatment of Cerebral Venous Sinus Thrombosis in a Chinese Population.

Jiang, Yi-Ying / Chen, Li-Jie / Wu, Xiao-Ju / Zhou, Guo-Qiu / Mo, Dong-Can / Li, Xiao-Ling / Liu, Liu-Yu / Li, Jian-Li / Luo, Man

Clinical and applied thrombosis/hemostasis : official journal of the International Academy of Clinical and Applied Thrombosis/Hemostasis

2022 Volume 28, Page(s) 10760296221144038

Abstract: We aimed to investigate the efficacy and safety of rivaroxaban for acute and long-term management of cerebral venous sinus thrombosis (CVST). This study reviewed CVST-diagnosed patients admitted to the First Affiliated Hospital of Guangxi Medical ... ...

Abstract	We aimed to investigate the efficacy and safety of rivaroxaban for acute and long-term management of cerebral venous sinus thrombosis (CVST). This study reviewed CVST-diagnosed patients admitted to the First Affiliated Hospital of Guangxi Medical University from January 2015 to December 2020. The primary outcome was a composite of recurrent thrombosis or major bleeding events. The secondary efficacy outcomes included a disease recovery time (DRT) presenting the time from admission to the endpoint as recovery (the modified Rankin scale [mRS] score [0-1]) within 30 and 90 days, and length of hospital stay (LHS). Patients treated with rivaroxaban (38) and warfarin (45) were enrolled in the final analysis. The primary outcome had no significant difference (5.3% vs 11.1%,
Language	English
Publishing date	2022-12-11
Publishing country	United States
Document type	Journal Article
ZDB-ID	1237357-6
ISSN	1938-2723 ; 1076-0296
ISSN (online)	1938-2723
ISSN	1076-0296
DOI	10.1177/10760296221144038
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Article ; Online: Association between polymorphisms in ABO gene and stroke patients with small artery occlusion in southern Chinese Han population.

Jiang, Yi-Ying / Li, Jian-Li / Liu, Liu-Yu / Zhou, Guo-Qiu / Mo, Dong-Can / Jiang, Dong-Dong / Luo, Man

Gene

2020 Volume 769, Page(s) 145211

Abstract: Objective: The purpose of this study was to investigate associations between two single nucleotide polymorphisms (SNPs) rs505922 and rs532436 in ABO gene and the risk of small artery occlusion stroke (SAO) in southern Chinese Han population.: Methods!# ...

Abstract	Objective: The purpose of this study was to investigate associations between two single nucleotide polymorphisms (SNPs) rs505922 and rs532436 in ABO gene and the risk of small artery occlusion stroke (SAO) in southern Chinese Han population. Methods: Our case-control study comprising 121 patients with SAO and 136 controls. All participants were Han population of southern China. IS sub-type was defined on the basis of the TOAST criteria. SAO was strictly diagnosed after a systematic physical examination and neuroimaging via MRI. Genotype analysis was conducted by the snapshot technique. Results: The distribution of rs532436 genotype between these two groups showed a statistically significant difference (P = 0.048) while that of rs505922 genotype showed no significant difference (P = 0.572). SNP rs532436 was significantly associated with SAO in overdominant model (GA vs. GG + AA) after adjusting for age, hypertension history, diabetes history and cigarette smoking (adjusted OR = 2.03, 95% CI: 1.14-3.62, P = 0.016). However, under all genetic models, the rs505922 polymorphism failed to show association with SAO. Conclusion: The resultsindicate that rs532436 polymorphism in ABO gene may have association with SAO in southern Chinese Han population.
MeSH term(s)	ABO Blood-Group System/genetics ; Aged ; Arterial Occlusive Diseases/genetics ; Case-Control Studies ; China ; Ethnic Groups ; Female ; Galactosyltransferases/genetics ; Genome-Wide Association Study ; Heterozygote ; Humans ; Male ; Middle Aged ; Polymorphism, Single Nucleotide ; Stroke/genetics
Chemical Substances	ABO Blood-Group System ; ABO protein, human (EC 2.4.1.-) ; Galactosyltransferases (EC 2.4.1.-)
Language	English
Publishing date	2020-10-11
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	391792-7
ISSN	1879-0038 ; 0378-1119
ISSN (online)	1879-0038
ISSN	0378-1119
DOI	10.1016/j.gene.2020.145211
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Zs.A 1357: Show issues

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Article: Associations between SNP83 of phosphodiesterase 4D gene and carotid atherosclerosis in a southern Chinese Han population: a case–control study

Liu, Liu-yu / Mo, Dong-can / Li, Jian-li / Jiang, Yi-ying / Zhou, Guo-qiu / Jiang, Dong-dong / Chen, Li-jie / Wu, Xiao-ju / Li, Jiao-xing / Luo, Man

Mammalian genome. 2021 Apr., v. 32, no. 2

2021

Abstract: Atherosclerosis was an important pathophysiological basis of atherothrombotic stroke, and phosphodiesterase 4D (PDE4D) polymorphism (SNP83/rs966221) was reported to be associated with the susceptibility to atherothrombotic stroke. Aim of the present ... ...

Abstract	Atherosclerosis was an important pathophysiological basis of atherothrombotic stroke, and phosphodiesterase 4D (PDE4D) polymorphism (SNP83/rs966221) was reported to be associated with the susceptibility to atherothrombotic stroke. Aim of the present study was to explore the potential association between SNP83 and carotid atherosclerosis (CAS). 204 southern Chinese Han participants were divided into two groups according to the carotid intima-media thickness (IMT) of the carotid artery: CAS group (carotid IMT ≥ 1.0 mm) and non-CAS group (carotid IMT < 1.0 mm). Carotid IMT was measured by color Doppler ultrasound. The PDE4D SNP83 polymorphism was determined by SNaPshot technique. Our study found that SNP83 was associated significantly with CAS susceptibility under the dominant, overdominant and codominant models. After adjusting for age, gender, low-density lipoprotein cholesterol, Hemoglobin A1c, cigarette smoking, hypertension history, and diabetes mellitus history, the association still remained significant (dominant model: crude OR = 2.373, 95% CI: 1.268–4.442, P = 0.007; adjusted OR = 3.129, 95% CI: 1.104–8.866, P = 0.032; overdominant model: crude OR = 1.968, 95% CI: 1.043–3.714, P = 0.037; adjusted OR = 2.854, 95% CI: 1.005–8.108, P = 0.049; codominant: crude OR = 2.102, 95% CI: 1.110–3.979, P = 0.023; adjusted OR = 2.984, 95% CI: 1.047–8.502, P = 0.041). Carotid IMT of carriers with CT + CC genotypes was higher than carriers with TT genotype (P = 0.016). Our results indicated that the SNP83/rs966221 located on PDE4D gene was significantly associated between CAS susceptibility and carotid IMT independently of conventional risk factors in a southern Chinese Han population.
Keywords	Chinese people ; atherosclerosis ; carotid arteries ; case-control studies ; cigarettes ; color ; diabetes mellitus ; gender ; genes ; genotype ; glycohemoglobin ; hypertension ; low density lipoprotein cholesterol ; mammals ; models ; stroke ; ultrasonography
Language	English
Dates of publication	2021-04
Size	p. 115-122.
Publishing place	Springer US
Document type	Article
Note	NAL-AP-2-clean
ZDB-ID	1058547-3
ISSN	1432-1777 ; 0938-8990
ISSN (online)	1432-1777
ISSN	0938-8990
DOI	10.1007/s00335-021-09857-5
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Zs.A 3489: Show issues

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Article ; Online: Associations between SNP83 of phosphodiesterase 4D gene and carotid atherosclerosis in a southern Chinese Han population: a case-control study.

Liu, Liu-Yu / Mo, Dong-Can / Li, Jian-Li / Jiang, Yi-Ying / Zhou, Guo-Qiu / Jiang, Dong-Dong / Chen, Li-Jie / Wu, Xiao-Ju / Li, Jiao-Xing / Luo, Man

Mammalian genome : official journal of the International Mammalian Genome Society

2021 Volume 32, Issue 2, Page(s) 115–122

Abstract	Atherosclerosis was an important pathophysiological basis of atherothrombotic stroke, and phosphodiesterase 4D (PDE4D) polymorphism (SNP83/rs966221) was reported to be associated with the susceptibility to atherothrombotic stroke. Aim of the present study was to explore the potential association between SNP83 and carotid atherosclerosis (CAS). 204 southern Chinese Han participants were divided into two groups according to the carotid intima-media thickness (IMT) of the carotid artery: CAS group (carotid IMT ≥ 1.0 mm) and non-CAS group (carotid IMT < 1.0 mm). Carotid IMT was measured by color Doppler ultrasound. The PDE4D SNP83 polymorphism was determined by SNaPshot technique. Our study found that SNP83 was associated significantly with CAS susceptibility under the dominant, overdominant and codominant models. After adjusting for age, gender, low-density lipoprotein cholesterol, Hemoglobin A1c, cigarette smoking, hypertension history, and diabetes mellitus history, the association still remained significant (dominant model: crude OR = 2.373, 95% CI: 1.268-4.442, P = 0.007; adjusted OR = 3.129, 95% CI: 1.104-8.866, P = 0.032; overdominant model: crude OR = 1.968, 95% CI: 1.043-3.714, P = 0.037; adjusted OR = 2.854, 95% CI: 1.005-8.108, P = 0.049; codominant: crude OR = 2.102, 95% CI: 1.110-3.979, P = 0.023; adjusted OR = 2.984, 95% CI: 1.047-8.502, P = 0.041). Carotid IMT of carriers with CT + CC genotypes was higher than carriers with TT genotype (P = 0.016). Our results indicated that the SNP83/rs966221 located on PDE4D gene was significantly associated between CAS susceptibility and carotid IMT independently of conventional risk factors in a southern Chinese Han population.
MeSH term(s)	Alleles ; Asian Continental Ancestry Group/genetics ; Biomarkers ; Carotid Artery Diseases/diagnosis ; Carotid Artery Diseases/genetics ; Carotid Intima-Media Thickness ; China ; Cyclic Nucleotide Phosphodiesterases, Type 4/genetics ; Genetic Association Studies ; Genetic Predisposition to Disease ; Genotype ; Humans ; Polymorphism, Single Nucleotide ; Risk Factors
Chemical Substances	Biomarkers ; Cyclic Nucleotide Phosphodiesterases, Type 4 (EC 3.1.4.17) ; PDE4D protein, human (EC 3.1.4.17)
Language	English
Publishing date	2021-03-23
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	1058547-3
ISSN	1432-1777 ; 0938-8990
ISSN (online)	1432-1777
ISSN	0938-8990
DOI	10.1007/s00335-021-09857-5
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Article ; Online: Associations between GUCY1A3 genetic polymorphisms and large artery atherosclerotic stroke risk in Chinese Han population: a case-control study.

Li, Jian-Li / Liu, Liu-Yu / Jiang, Dong-Dong / Jiang, Yi-Ying / Zhou, Guo-Qiu / Mo, Dong-Can / Luo, Man

Lipids in health and disease

2019 Volume 18, Issue 1, Page(s) 233

Abstract: Background: Previous genome-wide association studies have found two single nucleotide polymorphisms (SNP) rs7692387 and rs1842896 located on or near the GUCY1A3 gene were associated with coronary artery disease (CAD). GUCY1A3 was considered to be ... ...

Abstract	Background: Previous genome-wide association studies have found two single nucleotide polymorphisms (SNP) rs7692387 and rs1842896 located on or near the GUCY1A3 gene were associated with coronary artery disease (CAD). GUCY1A3 was considered to be involved in the process of atherosclerosis, but there was little information about the association between genotypic polymorphisms of the GUCY1A3 and large artery atherosclerotic (LAA) stroke. This study aimed to investigate the associations between the GUCY1A3 rs7692387, rs1842896 polymorphisms and LAA stroke susceptibility. Methods: A total of 298 LAA stroke patients and 300 control subjects from a southern Chinese Han population were included. SNaPshot technique was used for genotype analysis. Associations between genotypes and LAA stroke susceptibility were analyzed with logistic regression model. Results: Our study found that under the recessive model (TT vs. GT + GG), the GUCY1A3 rs1842896 polymorphism was significantly correlated with LAA stroke (OR = 1.48, 95%CI: 1.07-2.04, P = 0.018). After adjustment for its effects on age, gender, cigarette smoking, total cholesterol, low-density lipoprotein cholesterol, HbA1c, hypertension, diabetes mellitus, and CAD, the rs1842896 TT genotype retained association with increased susceptibility to LAA stroke (recessive model: adjusted OR = 1.96, 95%CI: 1.22-3.17, P = 0.006). However, association between rs7692387 polymorphism with LAA stroke was not observed. Conclusion: Our results indicate that the GUCY1A3 rs1842896 polymorphism is an LAA stroke risk factor in Southern Han Chinese.
MeSH term(s)	Aged ; Arteries/pathology ; Atherosclerosis/epidemiology ; Atherosclerosis/genetics ; Atherosclerosis/pathology ; China/epidemiology ; Female ; Genetic Predisposition to Disease ; Genome-Wide Association Study ; Genotype ; Humans ; Hypertension/epidemiology ; Hypertension/genetics ; Hypertension/pathology ; Logistic Models ; Male ; Middle Aged ; Risk Factors ; Soluble Guanylyl Cyclase/genetics ; Stroke/epidemiology ; Stroke/genetics ; Stroke/pathology
Chemical Substances	GUCY1A1 protein, human ; Soluble Guanylyl Cyclase (EC 4.6.1.2)
Language	English
Publishing date	2019-12-28
Publishing country	England
Document type	Journal Article
ISSN	1476-511X
ISSN (online)	1476-511X
DOI	10.1186/s12944-019-1177-2
Database	MEDical Literature Analysis and Retrieval System OnLINE

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Article: The F

Li, Shui-Xiu / Wu, Hao-Tian / Liu, Yu-Ting / Jiang, Yi-Ying / Zhang, Yi-Shan / Liu, Wei-Da / Zhu, Kun-Ju / Li, Dong-Mei / Zhang, Hong

Frontiers in microbiology

2018 Volume 9, Page(s) 1025

Abstract: Previous work has explored link between mitochondrial biology and fungal pathogenicity in ... ...

Abstract	Previous work has explored link between mitochondrial biology and fungal pathogenicity in F
Language	English
Publishing date	2018-05-23
Publishing country	Switzerland
Document type	Journal Article
ZDB-ID	2587354-4
ISSN	1664-302X
ISSN	1664-302X
DOI	10.3389/fmicb.2018.01025
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