To compare registration strategies to align arterial spin labeling (ASL) with 3D T1-weighted (T1w) images, with the goal of reducing the between-subject variability of cerebral blood flow (CBF) images. Multi-center 3T ASL data were... more
To compare registration strategies to align arterial spin labeling (ASL) with 3D T1-weighted (T1w) images, with the goal of reducing the between-subject variability of cerebral blood flow (CBF) images. Multi-center 3T ASL data were collected at eight sites with four different sequences in the multi-center GENetic Frontotemporal dementia Initiative (GENFI) study. In a total of 48 healthy controls, we compared the following image registration options: (I) which images to use for registration (perfusion-weighted images [PWI] to the segmented gray matter (GM) probability map (pGM) (CBF-pGM) or M0 to T1w (M0-T1w); (II) which transformation to use (rigid-body or non-rigid); and (III) whether to mask or not (no masking, M0-based FMRIB software library Brain Extraction Tool [BET] masking). In addition to visual comparison, we quantified image similarity using the Pearson correlation coefficient (CC), and used the Mann-Whitney U rank sum test. CBF-pGM outperformed M0-T1w (CC improvement 47.2...
Research Interests: Engineering, Mathematics, Computer Science, Magnetic Resonance Imaging, Medicine, and 15 moreImage Registration, Brain, Humans, Female, Male, Physical sciences, Perfusion, Middle Aged, Adult, Frontotemporal Dementia, Reproducibility of Results, Cerebral Blood Flow, Gray Matter, Arteries, and Medical and Health Sciences
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Introduction: Brain iron homeostasis dysregulation has been widely related to neurodegeneration. In particular, human haemochromatosis protein (HFE) is involved in iron metabolism, and HFE H63D polymorphism has been related to the risk of... more
Introduction: Brain iron homeostasis dysregulation has been widely related to neurodegeneration. In particular, human haemochromatosis protein (HFE) is involved in iron metabolism, and HFE H63D polymorphism has been related to the risk of amyotrophic lateral sclerosis and Alzheimer's disease. Recently, iron accumulation in the basal ganglia of frontotemporal lobar degeneration (FTLD) patients has been described. Objective: To explore the relationship between HFE genetic variation and demographic, clinical and imaging characteristics in a large cohort of FTLD patients. Methods: A total of 110 FTLD patients underwent neuropsychological and imaging evaluation and blood sampling for HFE polymorphism determination. HFE H63D polymorphism was considered in the present study. Two imaging approaches were applied to evaluate the effect of HFE genetic variation on brain atrophy, namely voxel-based morphometry and region of interest-based probabilistic approach (SPM8; Wellcome Trust Centre ...
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Background: Peripheral arterial disease (PAD) is a disease affecting million of patients worldwide. Though traditional cardiovascular risk factors have been associated with the development of PAD, the possible existence of an inherited... more
Background: Peripheral arterial disease (PAD) is a disease affecting million of patients worldwide. Though traditional cardiovascular risk factors have been associated with the development of PAD, the possible existence of an inherited genetic predisposition to PAD has been investigated in few familial aggregation studies. A link between genetics and PAD may open new avenues for the prevention of this morbid and mortal disorder. Aim: The aim of this study is to investigate a possible role of some genetic determinant involving into coagulation and homocysteine metabolism in the progression of PAD. Materials and Methods: We follow one-hundred patients affected by PAD for six years. We evaluated Ankle-Brachial Index (ABI) two times; first at the time of recruitment and then after six years, in order to assess the progression of disease. Genotypes for the genes of Factor V Leiden, Prothrombin or Factor II G20210A, Cystathionine Beta-Synthase 844ins68bp and Methylenetetrahydrofolate Redu...
Research Interests: Engineering, Earth Sciences, Dentistry, Biomedical Engineering, Aquatic Toxicology, and 15 moreEcology, Adolescent, Biological Sciences, Environmental Sciences, Child, Clutch Size, Clinical Sciences, CHEMICAL SCIENCES, Cross Sectional Studies, Environment, Environmental Exposure, Egg Size, Breeding season, Child preschool, and Environmental factor
The role of monoclonal antibodies in allergy has been explored. First the status of art of monoclonal research in general is reviewed, by outlining a monoclonals identikit and the relevant technologies employed for their development. The... more
The role of monoclonal antibodies in allergy has been explored. First the status of art of monoclonal research in general is reviewed, by outlining a monoclonals identikit and the relevant technologies employed for their development. The attention is then focused on the present impact of monoclonals in the allergological field, first considering a general outline, and then the important steps of standardization of monoclonal antibodies. A comprehensive hint is made concerning the monitoring of immunotherapy, with future extrapolations on developing anti-idiotype vaccines, of which same examples can already be found in the infectious field, thus leaving the way open in allergy as well. A second section deals with the experimental contribution of the Authors, with the description of the preparation of the allergenic extracts of D.F., with details of the relevant steps (rabbit immunization; extract characterization; techniques used for monoclonal screening and characterization). The re...
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In the present work, we report that the functional serotonin transporter gene promoter (5-HTTLPR) polymorphism is involved in migraine pathogenesis. The distribution of 5-HTTLPR genotypes was significantly different in MA patients (S/S... more
In the present work, we report that the functional serotonin transporter gene promoter (5-HTTLPR) polymorphism is involved in migraine pathogenesis. The distribution of 5-HTTLPR genotypes was significantly different in MA patients (S/S vs. S/L vs. L/L=32.7 vs. 42.3 vs. 25.0%), MO patients (18.5 vs. 39.1 vs. 42.4%) and CON (18.0 vs. 51.3 vs. 30.7%; chi-square test, p<0.05). In 5-HTTLPR S/S carriers, the odds ratio for MA risk was 2.60 (95% confidence interval [95%CI]=1.75-3.85) compared to CON, and it was 2.14 (95%CI=1.42-3.21) compared to MO. These data provide a further insight on the complex genotype-phenotype relationship involved in MA pathogenesis, and might eventually result in new and individualised prognostic and therapeutic measures.
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Research Interests: Psychology, Cognitive reserve, Medicine, Serotonin, Brain, and 14 moreHumans, Female, Statistical Parametric Mapping, Male, Synaptic Transmission, Clinical Sciences, Aged, Middle Aged, Single Photon Emission Computed Tomography, Frontotemporal Dementia, Genetic Polymorphism, Neurobiology of Aging, Neurosciences, and Neuropsychological Tests
Research Interests: Genetics, Polymorphism, Principal Component Analysis, Latent variable modeling, Dopamine, and 15 moreHumans, Female, Male, Disease Severity, Apoe, Clinical Sciences, Aged, Genotype, Genetic Polymorphism, Genetic variation, Neurobiology of Aging, Alzheimer Disease, Neurosciences, COMT, and Genetic Correlation
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Research Interests: Cognitive Science, Neuroimaging, Temporal Lobe, Brain, Humans, and 12 moreFemale, Male, Differential Diagnosis, Clinical Sciences, Middle Aged, Single Photon Emission Computed Tomography, Frontotemporal Dementia, Alzheimer Disease, Neurosciences, Frontal Lobe, Neuropsychological Tests, and Tau proteins
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Research Interests: Genetics, Biology, Folic acid, Adolescent, Medicine, and 15 moreLinear models, Italy, Humans, Female, Male, Homocysteine, Clinical Sciences, Family Health, Adult, Cardiovascular Diseases, Graphical Model, hyperhomocysteinemia, Cardiovascular Events, Methylenetetrahydrofolate Reductase, and Environmental factor
Oxidative damage has been suggested to play a key role in accelerated atherosclerosis and to be involved in cardiovascular disease (CVD) of dialyzed patients who are at risk of increased oxidative stress. The purpose of the present study... more
Oxidative damage has been suggested to play a key role in accelerated atherosclerosis and to be involved in cardiovascular disease (CVD) of dialyzed patients who are at risk of increased oxidative stress. The purpose of the present study was to examine the relationship between the severity of CVD and some markers of oxidative stress and antioxidant activity in our hemodialyzed (HD) and peritoneal dialysis (PD) patients. Plasma reactive oxygen metabolites, malondialdehyde and 4-hydroxynonenal (MDA-4HNE), thiols, alpha-tocopherol, and total antioxidant status (TAS) were measured in 55 HD and in 16 PD patients. CVD was considered as the result of variably combined cardiac, cerebral, and vascular pathologies which were scored and grouped in a single CVD index and analyzed with respect to the markers of the oxidative status. 16 normal subjects served as controls. All patients showed evidence of increased oxidative stress which was more severe in HD than in PD patients and which was exacerbated by HD. When cardiac, cerebral, and vascular diseases were analyzed separately, plasma MDA-4HNE and TAS were significantly higher in more severely affected HD patients, but not in PD patients. In HD patients the CVD index was directly correlated with both MDA-4HNE and TAS (r = 0.42, p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.01; r = 0.39, p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.01) and inversely correlated with alpha-tocopherol (r = -0.32, p &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.05). MDA-4HNE and TAS were directly correlated in HD patients and inversely correlated in control subjects. Our data show that, in spite of increased antioxidant defense, there is a relationship between the degree of lipid peroxidation and the severity of CVD in HD patients. Moreover, these data underscore the utility of MDA-4HNE, alpha-tocopherol, and TAS in the evaluation of cardiovascular disease.
Research Interests: Dialysis, Oxidative Stress, Cardiovascular disease, Antioxidants, Humans, and 15 moreFemale, Male, Medical Physiology, Lipid peroxidation, Clinical Sciences, Antioxidant Activity, Middle Aged, Peripheral Vascular Disease, Oxidative Damage, Peritoneal Dialysis, Cardiovascular Diseases, Indexation, Chronic Kidney Failure, Malondialdehyde, and Aldehydes
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Research Interests: Genetics, Prospective studies, Humans, Female, Male, and 15 moreBrain Ischemia, Ischemic Stroke, Clinical Sciences, Genotype, Adult, Genetic variation, Multinomial Logistic Regression, Case Control Study, Neurosciences, Prothrombin, Cerebral Infarction, Case Control Studies, Patent Foramen Ovale, Methylenetetrahydrofolate Reductase, and Cardiovascular medicine and haematology
Research Interests: Polymorphism, Medicine, Humans, Hypertension, Female, and 15 moreMale, Brain Ischemia, Ischemic Stroke, Risk factors, Clinical Sciences, Genotype, Adult, Cerebral Ischemia, Risk Factors, Neurosciences, Confidence Interval, Cumulant, attitude to health, Methylenetetrahydrofolate Reductase, and Cardiovascular medicine and haematology
Mutations in the progranulin (PGRN) gene have been recently demonstrated as a cause of frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal inclusion (FTD-U). Neuropathologic, clinical, and neuroimaging features... more
Mutations in the progranulin (PGRN) gene have been recently demonstrated as a cause of frontotemporal lobar degeneration (FTLD) with ubiquitin-immunoreactive neuronal inclusion (FTD-U). Neuropathologic, clinical, and neuroimaging features associated with PGRN mutations have been carefully described. No studies on asymptomatic subjects carrying pathogenetic PGRN mutations are available yet. These would be crucial for establishing the timing of brain changes and bringing new insight into disease pathogenesis and disease course. The aim of this study was to evaluate structural brain morphology using diffusion tensor imaging (DTI) and voxel-based morphometry (VBM) in asymptomatic carriers of PGRN delCACT mutation belonging to a four-generation FTLD pedigree (mean age, 37.0 +/- 12.0). The evaluation of the family proband presenting with progressive nonfluent aphasia at 53 years of age, revealed left frontotemporal hypoperfusion and atrophy. VBM analysis of gray and white matter reductions revealed no differences between asymptomatic carriers (n = 7) and controls (n = 15), and between no-carriers (n = 10) and controls (p &amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). DTI analysis revealed a reduction in fractional anisotropy in healthy PGRN mutation carriers in the left uncinate fasciculus, connecting the orbito-frontal regions to the temporal pole, and in the left inferior occipitofrontal fasciculus, connecting the parieto-occipital cortex to the dorsolateral frontal cortex (p &amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). No significant difference in fractional anisotropy between no-carriers and controls was found. Our data indicate loss of white matter integrity as an early preclinical feature in familial FTD that might antedate the onset of specific neurologic features. Alteration of fiber tracts within the perisylvian language network might represent the early hallmark of subsequent aphasia onset. The study of other pedigrees of asymptomatic PGRN mutation carriers is warranted.
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Research Interests: Demography, Brain Imaging, Computational Biology, Amyotrophic Lateral Sclerosis, Italy, and 15 moreHumans, Female, Male, Clinical Sciences, Aged, Frontotemporal Dementia, Genetic variation, Disease Progression, Amino Acid Profile, Base Sequence, In Silico, DNA binding proteins, Clinical Diagnosis, Molecular Sequence Data, and DNA mutational analysis
Frontotemporal lobar degeneration (FTLD) recognizes a strong genetic background, with 30-50% of cases with a positive family history. Despite several efforts to identify monogenic causes of the disease, no clear-cut genetic risk factors... more
Frontotemporal lobar degeneration (FTLD) recognizes a strong genetic background, with 30-50% of cases with a positive family history. Despite several efforts to identify monogenic causes of the disease, no clear-cut genetic risk factors for sporadic FTLD are yet known. Recently, increasing evidence points to a pivotal role of vascular endothelial growth factor (VEGF) in the neurodegenerative process, suggesting functions not confined to its originally described vascular effects. The aim of this study was to investigate the role of VEGF as a genetic determinant to FTLD susceptibility. We evaluated a cohort of 274 unrelated Italian patients, including 161 subjects with frontotemporal dementia (FTD), 56 with corticobasal degeneration syndrome, and 57 with progressive supranuclear palsy. Genotype and allele frequencies of four well-known polymorphisms located within the VEGF promoter (-2578C/A, -1190G/A, -1154G/A, and -634G/C) were calculated in patients and in 216 age-matched healthy subjects. Genetic analysis revealed the presence of several significant changes in terms of allele, genotype, and haplotype frequency distributions between patients and controls. Marked differences were observed when the FTD patient subgroup was compared with healthy subjects. Overall, these data provide evidence for the first time that VEGF gene variability represents a susceptibility factor for sporadic FTLD, at least in an Italian population. Future confirmatory studies are mandatory.
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To test the hypothesis that patients with Alzheimer disease (AD) who have vascular risk factors have a worse prognosis over 18 months vs those without such risk factors. A sample of 224 people with AD and their caregivers were recruited... more
To test the hypothesis that patients with Alzheimer disease (AD) who have vascular risk factors have a worse prognosis over 18 months vs those without such risk factors. A sample of 224 people with AD and their caregivers were recruited purposively to be representative of people with dementia in terms of cognition, sex, and living situations in a longitudinal study of AD. Standardized instruments measuring cognition, functional status, and neuropsychiatric symptoms were used to collect data. Physical examination and relevant blood tests were performed. There was no difference in rate of deterioration between people with and without vascular risk factors, except in those who had a cerebrovascular accident (CVA) during the 18-month follow-up (p &amp;amp;lt; 0.001). We considered possible confounders of outcome: sex, age, years of education, severity of dementia, depression, taking cholinesterase inhibitors (AChEIs), and whether those with vascular risk factors were more likely to die, but the results remained unchanged. Stopping AChEIs during the study was associated with cognitive and functional decline (p &amp;amp;lt; 0.001). Vascular risk factors as measured clinically and biochemically do not significantly increase deterioration at 18 months in people with Alzheimer disease who have a low burden of cerebrovascular risk factors. However, cerebrovascular events are associated with more rapid decline. Vascular risk factors may contribute to the expression of Alzheimer disease initially but are not part of the underlying etiologic process.
Research Interests: Cognitive Science, Cognition, Medicine, Humans, Blood Pressure, and 15 moreCholesterol, Female, Male, Apolipoprotein E, Homocysteine, Cholinesterase inhibitors, Clinical Sciences, Aged, Longitudinal Studies, Genotype, Disease Progression, Alzheimer Disease, Cerebrovascular Disorders, Hyperlipidemias, and cerebral arteries
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Research Interests: Polymorphism, Cognition, Biology, Medicine, Humans, and 15 moreHaplotypes, Female, Male, Clinical Sciences, Aged, Methionine, Linkage Disequilibrium, Chi Square Distribution, Psychotic Disorders, Alzheimer Disease, Neurosciences, Haplotype, Neuropsychological Tests, DNA mutational analysis, and Gene frequency
Research Interests: Atherosclerosis, Fibrinogen, Humans, Female, Male, and 15 moreHaemostasis and Thrombosis, Pedigree, Risk factors, Homocysteine, Clinical Sciences, Middle Aged, Acute Coronary Syndrome, Family Health, Genotype, Myocardial Infarction, Thrombosis, Risk Factors, Genetic Markers, Age of Onset, and Cardiovascular medicine and haematology
Research Interests: Folic acid, Type 2 Diabetes, Medicine, Italy, Humans, and 14 moreFemale, Male, Haemostasis and Thrombosis, ROC Curve, Homocysteine, Clinical Sciences, Aged, Middle Aged, Thrombosis, Type 2 Diabetes Mellitus, Case Control Studies, Peripheral artery disease, vitamin B, and Cardiovascular medicine and haematology
Research Interests: Psychology, Neurology, Medicine, Neurodegenerative Diseases, Humans, and 15 moreCerebral Cortex, Neuropsychological Assessment, Female, Male, Aged, Middle Aged, Cognitive impairment, Basal ganglia, Biological markers, Alzheimer Disease, Predictive value of tests, Biological Data, Neuropsychological Tests, Psychology and Cognitive Sciences, and Medical and Health Sciences
Research Interests: Genetics, Polymorphism, Risk assessment, Stratification, Medicine, and 15 moreStroke, Humans, Female, Brain Ischemia, Risk factors, Adult, Risk Factors, Risk Assessment, Case Control Study, Ischaemic Stroke, Confidence Interval, Oral Contraceptive, Case Control Studies, Psychology and Cognitive Sciences, and Medical and Health Sciences
Atherosclerosis results from a complex interaction between environment and genetic risk factors. The gene encoding vascular endothelial growth factor (VEGF) is associated with differential protein expression and has been investigated in... more
Atherosclerosis results from a complex interaction between environment and genetic risk factors. The gene encoding vascular endothelial growth factor (VEGF) is associated with differential protein expression and has been investigated in coronary artery disease (CAD) studies. Based on this, we aimed at determining if patients with CAD are affected by polymorphisms (-2 578, -1 154, and 936) in the VEGF gene, and also if these polymorphisms are associated with the number of diseased vessels and degree of arterial obstruction. The case group was formed by 175 Caucasian patients with angiographically confirmed CAD, and the control group involved 108 Caucasian patients with normal coronary angiograms. Polymerase chain reaction (PCR) was used for genotyping. Allele frequencies for VEGF -2 578A, -1 154A, and 936T were 0.46, 0.38, and 0.14 in cases and 0.49, 0.30, and 0.13 in control subjects. Allele and genotype distribution did not significantly differ between groups. A higher frequency of the VEGF -2 578AA genotype was observed in the group with three vessel disease (P = 0.008). No association between the VEGF -2 578, -1 154, and 936 polymorphisms and degree of arterial obstruction was observed. The frequency of carriers of two copies of the haplotype AG (-2 578/-1 154) were higher in the group with three-vessel disease (P = 0.05). In summary, our report shows that the VEGF -2 578 polymorphism has an influence on CAD severity, possibly because of a reduced VEGF expression, suggesting a protective effect of VEGF in atherosclerosis.
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The aim of the present study was to evaluate whether the functional Notch3 polymorphism T6746C, which is not causative for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), might be a... more
The aim of the present study was to evaluate whether the functional Notch3 polymorphism T6746C, which is not causative for cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), might be a risk factor for migraine. It has been recently demonstrated that migraine is characterized by subclinical brain infarctions and white matter lesions. Several genetic risk factors have been associated with migraine, but no study has unraveled a possible relationship between migraine and Notch3, which is involved in vascular damage. Mutations in Notch3 gene have been demonstrated to be pathogenetic for CADASIL, a small vessel disease of the brain characterized by migraine. A total of 156 migraine patients and 128 nonheadache healthy volunteers entered the study. Demographic and clinical characteristics were carefully recorded, and a neurological work-up was performed. Moreover, each subject underwent a blood sampling for Notch3 genotype determination. Notch3 genotypes as well as allele frequencies did not differ in migraine patients compared to controls, even adjusting for the presence of possible confounds. No difference has been found either in migraine patients with aura or in those without aura. These findings support the view that functional polymorphism T6746C in Notch3 gene is not involved in increasing the risk of migraine or migraine subtypes.
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Three major amyloid precursor protein (APP) forms with apparent molecular weight ranging from 106 to 130 kDa are present in human platelets. Alzheimer disease (AD) is associated with a decreased APP forms ratio (APPr) between the three... more
Three major amyloid precursor protein (APP) forms with apparent molecular weight ranging from 106 to 130 kDa are present in human platelets. Alzheimer disease (AD) is associated with a decreased APP forms ratio (APPr) between the three major forms. A total of 25 mild to moderate AD patients were investigated. Platelet APPr was studied before and after 30 days of acetylcholinesterase-inhibitor treatment (donepezil, 5 mg daily). Patients were grouped into non-epsilon4 carriers and epsilon4 carriers according to apolipoprotein E (ApoE) genotype. At baseline, all patients showed low APPr levels and no significant difference was found between the two ApoE subgroups. After treatment, although a marked improvement in APPr was observed in most patients, non-epsilon4 carriers displayed a higher increase compared to epsilon4 carriers (P&amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt;0.0001). The present study provides evidence that donepezil influences APP metabolism in platelets, and suggests that ApoE genotype might be an important modulating factor for drug responsiveness in AD.
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Most reports on thalamic infarcts have focused on clinicoanatomical correlations while the mechanisms of stroke have rarely been investigated. Moreover, most series have included mainly elderly stroke patients, whereas scarce information... more
Most reports on thalamic infarcts have focused on clinicoanatomical correlations while the mechanisms of stroke have rarely been investigated. Moreover, most series have included mainly elderly stroke patients, whereas scarce information is available about the etiology of thalamic infarcts in the young. To investigate the mechanisms of thalamic infarcts according to vascular territory in a series of young adults. A sample of 24 consecutive patients with thalamic infarcts were found in an unselected series of 129 patients with cerebral infarction aged 18-45 years. Diagnostic investigation included computed tomography and magnetic resonance imaging scans, ultrasonic scanning of the extracranial and intracranial arteries, conventional angiography and magnetic resonance angiography, transthoracic and transesophageal echocardiography and extensive thrombophilic studies. The affected vascular territory within the thalamus was determined using standard templates. Thalamic infarcts constituted almost one fifth of the ischemic strokes in our series. Ten patients (42%) had infarct in the territory of the thalamogeniculate pedicle (group 1), 10 (42%) in the territory of the paramedian thalamosubthalamic artery (group 2) and 3 (12%) in the territory of the tuberothalamic artery (group 3). In 1 patient (4%), the lesion involved more than one vascular thalamic territory. A significant association between cardioembolism and paramedian infarcts was found when comparing the mechanisms of stroke of group 2 with those of the group including infarcts in other thalamic territories (p = 0.002) and with those of group 1 (p = 0.02). Our findings provide information about the epidemiology of thalamic infarcts in young adults and point to a differential association between the distribution of infarcts in specific vascular territories and the mechanism of stroke.
Research Interests: Computed Tomography, Magnetic Resonance Imaging, Brain, Humans, Young Adult, and 15 moreEtiology, Ischemic Stroke, Risk factors, Clinical Sciences, Adult, Group, Risk Factors, Neurosciences, Embolism, Cerebral Infarction, Magnetic resonance angiography, Cerebral Angiography, Magnetic resonance image, Vascular Diseases, and transesophageal echocardiography
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The Glu298→Asp (E298D; 894G→T) polymorphism of eNOS (endothelial nitric oxide synthase) has been related with cardiovascular disease. In the present study, we investigated the association of Glu298→Asp with atherosclerotic plaques in... more
The Glu298→Asp (E298D; 894G→T) polymorphism of eNOS (endothelial nitric oxide synthase) has been related with cardiovascular disease. In the present study, we investigated the association of Glu298→Asp with atherosclerotic plaques in different carotid vessel segments and with carotid IMT (intima-media thickness). The Glu298→Asp eNOS polymorphism was determined by 5′-exonuclease assay among 2448 participants of the SHIP (Study of Health in Pomerania). Mean and maximum common carotid IMT, as well as carotid atherosclerosis, were measured by high-resolution ultrasound. The Asp/Asp298 genotype was associated with an increased risk of atherosclerotic plaques at the level of the common carotid arteries [multivariate odds ratio, 1.57 and 95% CI (confidence interval), 1.05–2.34; P=0.025], but not in the carotid bifurcations or internal or external carotid arteries. Glu298→Asp genotype was not associated with carotid IMT in the whole sample. However, the Asp/Asp298 genotype was independently...