Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

To clarify the characteristics of CADASIL in Japan, we performed clinical and genetic investigations for six patients from 5 Japanese families diagnosed as CADASIL. We identified that the onset of focal neurologic deficits ranged from 38 to 63 years old (mean 49 +/- 9.4 yrs) and the occurrence rates of main neurologic symptoms and signs were 1/6 for migraine, 3/6 for recurrent stroke episodes, 6/6 for dementia, and 4/6 for pseudobulbar palsy. The marked narrowing of retinal arteries were observed in 3/6. The notch 3 mutations were all found in exon 4. Although other several families shared similar phenotype of CADASIL, there were no deposition of granular osmiophilic materials within the basal lamina of smooth muscle cells in the arterioles of biopsied muscle and no mutations in the cording regions of notch 3 gene. We investigated prospectively the incidence of CADASIL and CADASIL-like disease in Kumamoto district from 1999 to 2000. One thousand and thirty four patients with stroke were hospitalized in 6 hospitals which have stroke care unit. Among them, 7 patients fulfilled the criteria that were less than 60 years old, lacunar strokes and/or TIA, presence of a family history, and no risk factors such as hypertension, diabetes mellitus, and hyperlipidemia. One of seven patients was diagnosed as CADASIL by DNA analysis. It was suspected the incidences of CADASIL and CADASIL-like disease were not so rare in Japan.
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PMID:[CADASIL: clinical analysis of CADASIL and CADASIL-like disorders in Japan]. 1146 69

Left ventricular (LV) diastolic dysfunction is prevalent in the community. Current assessment of diastolic function can be complex, involving Doppler evaluation of an array of hemodynamic data. The relation between left atrial (LA) volume and diastolic function, and between LA volume and cardiovascular risk and disease burden are not well known. In the present prospective study of 140 adults, mean age 58 +/- 19 years, referred for a clinically-indicated echocardiogram and in sinus rhythm, with no history of atrial arrhythmias or valvular heart disease, we determined the LA volume, LV diastolic function status, cardiovascular risk score (based on age, gender, history of systemic hypertension, diabetes mellitus, hyperlipidemia, and smoking), and cardiovascular disease burden (based on confirmed vascular disease, congestive heart failure, and transient ischemic attack or stroke). LA volume was found to correlate positively with age, body surface area, cardiovascular risk score, LV end-diastolic and end-systolic dimensions, LV mass, diastolic function grade, tissue Doppler E/E', tricuspid regurgitation velocity, and negatively with LV ejection fraction (all p <0.006). In a multivariate clinical model, LA volume indexed to body surface area (indexed LA volume) was independently associated with cardiovascular risk score (p <0.001), congestive heart failure (p = 0.014), vascular disease (p = 0.012), transient ischemic attack or stroke (p = 0.021), and history of smoking (p = 0.008). In a clinical and echocardiographic model, indexed LA volume was strongly associated with diastolic function grade (p <0.001), independent of LV ejection fraction, age, gender, and cardiovascular risk score. In patients without a history of atrial arrhythmias or valvular heart disease, LA volume expressed the severity of diastolic dysfunction and provided an index of cardiovascular risk and disease burden.
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PMID:Left atrial volume as a morphophysiologic expression of left ventricular diastolic dysfunction and relation to cardiovascular risk burden. 1248 35

We reviewed 12 patients from 11 Japanese families diagnosed as having CADASIL from 1998 to 2001. The age of onset of focal neurologic deficits ranged from 38 to 71 years (mean: 50.4 +/- 9.8 years). Japanese CADASIL patients rarely had migraine and frequently presented with symptoms of dementia at diagnosis. Notch3 mutations were concentrated in exons 3, 4, and 5. Cysteine was replaced by another amino acid or vice versa in the majority of Japanese CADASIL patients. However, in 2 families, the mutations were not related to cysteine. In the prospective study, 2030 patients with stroke were hospitalized in 6 hospitals with stroke units in the Kumamoto district from 1999 to 2001. Among them, 14 patients fulfilled the criteria of being less than 60 years of age, showing lacunar strokes and/or TIA, presence of a family history, and no risk factors of stroke. One of these 14 patients was diagnosed as having CADASIL by DNA analysis. However, if hyperlipidemia was excluded from the list, 16 patients fulfilled the criteria and 2 patients were diagnosed as having CADASIL by DNA analysis. It was suspected that the incidence of CADASIL is not so rare in Japan. There were some families with CADASIL-like features, but without Notch3 mutations or GOM, suggesting the need for genetic analysis in the future.
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PMID:Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL) and CADASIL-like disorders in Japan. 1248 Jul 61

In secondary prevention, reduction of the risk of recurrent ischemic stroke might be expected with statins if a correlation can be established between hyperlipidemia and ischemic stroke or some specific ischemic stroke/TIA subtypes. However, such correlation remains controversial, and more particularly with the etiologic stroke/TIA subtypes. Few studies have evaluated the plasma lipid profile in different ischemic stroke subtypes, and notably in lacunar infarctions and cardioembolic strokes. The objectives of this case-control study was to determine (1) which cholesterol fractions is associated with large vessel disease (LVD), small vessel disease (SVD), and cardioembolic disease (CED); (2) whether hypertriglyceridemia is related more to any particular stroke subtype; and (3) whether the lipid profile is different between LVD and SVD which are both responsible for atherothrombotic cerebral ischemia. From a cohort of 485 patients, were selected 240 consecutive cases with ischemic stroke (n = 182) or transient ischemic attack (n = 58) due to a single etiology. The levels of total cholesterol (total-C), LDL-cholesterol (LDL-C), HDL-cholesterol (HDL-C), and triglycerides (TG) were measured in 61 patients with LVD, in 65 with SVD, and in 114 with CED, and compared with age- and sex-matched control subjects. Additional analysis was performed to compare the lipid profile between LVD and SVD after adjustment for other risk factors. Compared to controls, the total-C level was significantly higher in patients with SVD (p = 0.005) and LVD (p = 0.018). A significant increase in the LDL-C level (p < 0.004) and a significant decrease in the HDL-C level (p = 0.001) were only observed in the LVD patients. The three stroke subtypes showed higher TG levels than the controls (CED, p = 0.037; SVD, p < 0.001; LVD, p = 0.014). The plasma lipid profile was similar in the SVD and LVD subtypes except for HDL-C, which was significantly lower in LVD than in SVD (p = 0.047). Logistic regression adjusted for confounders showed that decreased HDL-C (p = 0.020), and smoking (p = 0.019) were significant discriminative factors for LVD vs. SVD. In conclusion, this controlled study shows that hypertriglyceridemia is commonly found in patients with ischemic cerebrovascular disease whatever the etiologic subtype, whereas hypercholesterolemia is related more to SVD and LVD. In addition to hypertension and diabetes, hypercholesterolemia may also be involved in the etiology of SVD and differs from LVD by a lower decrease in HDL-C.
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PMID:Lipids in ischemic stroke subtypes. 1514 57

Hemorheological disturbances may occur in more than 40% of patients with ischemic cerebrovascular diseases. In this study the changes of rheological factors--hematocrit, plasma fibrinogen concentration, whole blood and plasma viscosity, red blood cell aggregation and deformability were investigated in 297 patients (173 males, 124 females, mean age 60 +/- 11 years) with transient ischemic attack or chronic phase (> 3 months after onset) ischemic stroke, and in 73 healthy volunteers (35 males, 38 females, mean age 38 +/- 7 years). Hematocrit, plasma and whole blood viscosity were significantly (p < 0.0001) elevated in cerebrovascular patients compared to controls. Plasma fibrinogen concentration (p < 0.001), red blood cell aggregation (p < 0.05) and deformability (p < 0.01) were also impaired in stroke patients. Hemorheological disturbances were dominant in stroke patients with diabetes, hyperlipidemia and smoking habits. Hematocrit, plasma viscosity and red blood cell aggregation showed a significant (p < 0.025-0.001) correlation with the severity of carotid artery stenosis. We could not find any characteristic distribution of rheological parameters among the three subtypes of brain ischemia. Our results show that all of the measured rheological parameters are significantly impaired in chronic ischemic cerebrovascular disorders, especially in diabetic, smoking and alcoholic patients. They correlate with the severity of the carotid artery stenosis, but there is no association with the type of ischemic stroke.
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PMID:Hemorheological disturbances in patients with chronic cerebrovascular diseases. 1527 48

After immediate intervention for cerebral infarction or transient ischemic attack (TIA), the primary goal is secondary prevention of future cerebral ischemia and prevention of complications related to the initial ischemic event. The goals of the diagnostic evaluation are to (1) determine potential contributing mechanisms (cardioembolic, large-vessel disease of the extracranial and intracranial vessels, small-vessel disease, coagulation defects, and cryptogenic), (2) identify contributing risk factors (hypertension, hyperlipidemia, tobacco use, diabetes), and (3) complete the evaluation in a cost-effective and safe manner. We provide a sequential approach to the diagnostic evaluation of cerebral infarction or TIA to optimize diagnostic yield of testing, minimize cost and potential harm to the patient, and provide information that will change management. This systematic approach focuses on 6 important questions: (1) Are the symptoms consistent with a cerebral infarction or TIA (versus nonischemic pathology)? (2) Where does the ischemic event localize? (3) What etiologies and mechanisms of cerebral infarction and TIA are possible? (4) What is the prevalence of each potential etiology? (5) What treatments are available for this etiology? (6) What tests and studies are useful to evaluate this etiology?
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PMID:Evaluation and management of transient ischemic attack and minor cerebral infarction. 1530 38

The vertebral artery lesion has a variety of clinical characteristics. We sought to clarify the clinical patterns and the location of the intracranial vertebral artery (ICVA) diseases according to analyses of images obtained using magnetic resonance angiography (MRA). We studied vascular lesions, risk factors, symptoms, signs, and outcomes in 35 patients with ICVA disease (3 had bilateral occlusion; 9, unilateral occlusion; 6, bilateral stenosis; and 17, unilateral stenosis). The most common site of unilateral and bilateral lesions was the distal ICVA after the origin of posterior inferior cerebellar artery (PICA). We found accompanying basilar artery disease in 28.6% of patients with unilateral and bilateral ICVA disease. The majority of the ICVA lesions were associated with internal carotid arteries disease (48.8%). The common vascular risk factors were hypertension (71%), diabetes mellitus (34%), hyperlipidemia (31%), smoking (29%), and coronary artery disease (23%). Eighteen patients (51.4%) had transient ischemic attacks (TIAs) only, 10 patients (28.6%) had TIAs before stroke, and 5 patients (14.3%) had strokes without TIAs. Most patients (80%) with TIAs, with or without stroke, had multiple episodes. Vertigo or dizziness, ataxia, limbs weakness and abnormal gait were the common symptoms and signs. At 6 months follow-up, 66.7% patients had no symptoms or only slight symptoms that caused no disability. Our data showed (1) the usual location of ICVA disease (occlusion or severe stenosis) was distal to PICA, especially near the vertebrobasilar junction; (2) the risk factors were hypertension, diabetes mellitus, hyperlipidemia, smoking, and coronary artery disease; (3) patients with ICVA disease had a high frequency of accompanying internal carotid, middle cerebral, or basilar artery disease; (4) vertigo or dizziness, and ataxia were the common symptoms and signs; (5) TIA was the most common clinical pattern; (6) the outcome was favorable, except in cases with bilateral ICVA occlusion.
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PMID:Clinical findings of intracranial vertebral artery disease using magnetic resonance angiography. 1550 38

The aim of this study was to identify relevant risk factors for occlusive lesions of the intracranial arteries in stroke-free population. The subjects of this study were 425 patients without a history of stroke or transient ischemic attack and without any abnormality on a neurological examination who consecutively visited a neurology clinic between January 1994 and June 2001 requesting medical evaluation for possible cerebrovascular diseases. Subjects included 245 men and 180 women ranging in age from 33 to 89 years (mean+/-SD=64.0+/-10.0 years). We performed cervical and intracranial magnetic resonance angiography (MRA) in all subjects. Using a validated rating scheme of MRA for occlusive lesions, we evaluated the degree of stenoses in the extracranial portion of the internal carotid artery (ICA) and the intracranial arteries including the intracranial portion of the ICA, middle cerebral artery (MCA) stem, intracranial portion of the vertebral artery (VA), and basilar artery (BA). More than 25% stenoses were regarded as significant lesions in this study. Multiple logistic regression analyses showed that significant and independent predictors for extracranial ICA lesions were age, hyperlipidemia, and ischemic heart disease (IHD), those for intracranial ICA lesions were age, hypertension, diabetes mellitus, and IHD, those for MCA lesions were age and hypertension, those for intracranial VA lesions were hyperlipidemia and IHD, and those for BA lesions were hypertension and diabetes mellitus. The present study suggested that atherosclerosis of the intracranial VA was related to hyperlipidemia and IHD as was the case for the extracranial carotid artery, whilst atherosclerosis of other sites of intracranial arteries was associated with hypertension and diabetes mellitus in stroke-free Japanese.
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PMID:Risk factors for occlusive lesions of intracranial arteries in stroke-free Japanese. 1569 12

A retrospective cohort study was carried out of new referrals to transient ischaemic attack (TIA) clinics in Glasgow. The aims of the study were to describe the profile of referrals and to assess the odds ratios for TIA, minor stroke or amaurosis fugax of both cardiovascular risk factors and clinical features. In total, data were collected for 813 new referrals in a period of six months. Thirteen point eight percent of referrals were from other Health Boards. The overall referral rate among residents of Greater Glasgow NHS Board was 165.6 per 100,000 per year. About 20% of referrals were made by clinicians in secondary care. The specialties from which referrals were most commonly made were accident and emergency, general medicine, ophthalmology and geriatric assessment. The most common risk factors in patients referred were hypertension (52.9%), smoking (31.7%), ischaemic heart disease (22.7%) and former smokers (22.4%). The most common clinical features were hemiparesis (13.3%), weakness of an upper limb (8.7%), vertigo (7.9%) and dysphasia (7.3%). In 48.7% of cases, a non-cerebrovascular diagnosis was made. Separate multivariate models were established for risk factors and clinical features. In the model for risk factors, five factors were significant for risk of TIA, stroke or amaurosis fugax. These were hyperlipidaemia, age over 64 years, hypertension, smoking and ex-smoking. In the model for clinical features, five factors were also significant. These were visual field defect, speech defact, facial weakness and hemiparesis.
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PMID:Epidemiological aspects of referral to TIA clinics in Glasgow. 1737 16

Old age groups have different risk profile and stroke features compared to younger groups. Our aim was to examine the risk factor profile and stroke subtype in patients older than 80 years with ischemic stroke. Data of 535 patients with ischemic stroke or transient ischemic attack (TIA) were prospectively recorded. Cardiovascular risk factors and stroke subtype in individuals aged 80 years or older were compared with patients under 80. Of 535 patients a total of 179 were over 80 years (33.5%). The mean age was 84.4 +/- 4.4 years (61.8%; 111 women). The most common risk factors included hypertension (82.7%) and hyperlipidemia (40.2%). Lacunar stroke was the most frequent subtype of stroke (41.7%). When the groups were compared, we observed the following risk factors more frequently in the group older than 80: female patients (P = <0.001), hypertension (OR = 1.62), atrial fibrillation (OR = 2.64); whereas diabetes (OR = 0.54), hyperlipidemia (OR = 0.57), smoking (OR = 0.17) and obesity (OR = 0.58) were more frequent in the group younger than 80. In the old group we found a high incidence of ischemic stroke in women. We also found a higher frequency of hypertension and atrial fibrillation. The available and future epidemiological data will provide a better knowledge about the effect of typical risk factors in old people.
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PMID:Acute ischemic stroke and transient ischemic attack in the very old--risk factor profile and stroke subtype between patients older than 80 years and patients aged less than 80 years. 1766 1


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