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Sample records for inherited cerebrovascular disease

  1. Influence of cerebrovascular disease on brain networks in prodromal and clinical Alzheimer's disease.

    Science.gov (United States)

    Chong, Joanna Su Xian; Liu, Siwei; Loke, Yng Miin; Hilal, Saima; Ikram, Mohammad Kamran; Xu, Xin; Tan, Boon Yeow; Venketasubramanian, Narayanaswamy; Chen, Christopher Li-Hsian; Zhou, Juan

    2017-11-01

    Network-sensitive neuroimaging methods have been used to characterize large-scale brain network degeneration in Alzheimer's disease and its prodrome. However, few studies have investigated the combined effect of Alzheimer's disease and cerebrovascular disease on brain network degeneration. Our study sought to examine the intrinsic functional connectivity and structural covariance network changes in 235 prodromal and clinical Alzheimer's disease patients with and without cerebrovascular disease. We focused particularly on two higher-order cognitive networks-the default mode network and the executive control network. We found divergent functional connectivity and structural covariance patterns in Alzheimer's disease patients with and without cerebrovascular disease. Alzheimer's disease patients without cerebrovascular disease, but not Alzheimer's disease patients with cerebrovascular disease, showed reductions in posterior default mode network functional connectivity. By comparison, while both groups exhibited parietal reductions in executive control network functional connectivity, only Alzheimer's disease patients with cerebrovascular disease showed increases in frontal executive control network connectivity. Importantly, these distinct executive control network changes were recapitulated in prodromal Alzheimer's disease patients with and without cerebrovascular disease. Across Alzheimer's disease patients with and without cerebrovascular disease, higher default mode network functional connectivity z-scores correlated with greater hippocampal volumes while higher executive control network functional connectivity z-scores correlated with greater white matter changes. In parallel, only Alzheimer's disease patients without cerebrovascular disease showed increased default mode network structural covariance, while only Alzheimer's disease patients with cerebrovascular disease showed increased executive control network structural covariance compared to controls. Our

  2. Arterial Spin Labeling and Blood Oxygen Level-Dependent MRI Cerebrovascular Reactivity in Cerebrovascular Disease

    DEFF Research Database (Denmark)

    Smeeing, Diederik P J; Hendrikse, Jeroen; Petersen, Esben T

    2016-01-01

    BACKGROUND: The cerebrovascular reactivity (CVR) results of blood oxygen level-dependent (BOLD) and arterial spin labeling (ASL) MRI studies performed in patients with cerebrovascular disease (steno-occlusive vascular disease or stroke) were systematically reviewed. SUMMARY: Thirty-one articles...... found a significant lower ASL CVR in the ipsilateral hemispheres of patients compared to controls. KEY MESSAGES: This review brings support for a reduced BOLD and ASL CVR in the ipsilateral hemisphere of patients with cerebrovascular disease. We suggest that future studies will be performed in a uniform...... way so reference values can be established and could be used to guide treatment decisions in patients with cerebrovascular disease....

  3. Migraine, cerebrovascular disease and the metabolic syndrome

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    Alexandra J Sinclair

    2012-01-01

    Full Text Available Evidence is emerging that migraine is not solely a headache disorder. Observations that ischemic stroke could occur in the setting of a migraine attack, and that migraine headaches could be precipitated by cerebral ischemia, initially highlighted a possibly association between migraine and cerebrovascular disease. More recently, large population-based studies that have demonstrated that migraineurs are at increased risk of stroke outside the setting of a migraine attack have prompted the concept that migraine and cerebrovascular disease are comorbid conditions. Explanations for this association are numerous and widely debated, particularly as the comorbid association does not appear to be confined to the cerebral circulation as cardiovascular and peripheral vascular disease also appear to be comorbid with migraine. A growing body of evidence has also suggested that migraineurs are more likely to be obese, hypertensive, hyperlipidemic and have impaired insulin sensitivity, all features of the metabolic syndrome. The comorbid association between migraine and cerebrovascular disease may consequently be explained by migraineurs having the metabolic syndrome and consequently being at increased risk of cerebrovascular disease. This review will summarise the salient evidence suggesting a comorbid association between migraine, cerebrovascular disease and the metabolic syndrome.

  4. Cerebrovascular Diseases and Early Seizure

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    Ayşegül Gündüz

    2006-08-01

    Full Text Available OBJECTIVE: Cerebrovascular disease is one of the important causes of seizures and epilepsy among the advanced age group. Seziures are found to be associated with lesion localization and size in previous studies. METHODS: Here, we aimed to detect prevelance of seizure, relation of seizure and lesion localization, and observed seizure types. RESULTS: Three hundred seventy eight patients with ischemic cerebrovascular disease or intraparenchymal hemorrhage who were followed in Cerrahpasa IVIedical School clinic were studied retrospectively and probability of seizure occurence within 1 month after stroke was evaluated. CONCLUSION: Among 378 patients hospitalized by acute stroke, 339 were diagnosed as ischemic cerebrovascular disease and 39 (10.3% had primary intraparenchymal hematoma. Seizures were observed in 16 patients (4.2%, 2 (%5.1 in intraparenchymal hematoma group and 14 (%4.1 in ischemic cerebrovascular disease. Early seizures were detected in 33% of patients with anterior cerebral artery, in 6.8% of posterior cerebral artery and in 3.3% of middle cerebral artery infarcts and in three patients out of 12 who were known to have epilepsy. Seizure types were secondarily generalised tonic-clonic seizure in nine cases (57%. Among whole group status epilepticus was observed in four patients (1.1%. Conclusion: Early seizure rates are found to be high among patients with anterior cerebral artery infarct and known epilepsy

  5. Clinical analysis of 34 cases symptomatic epilepsy secondary to cerebrovascular disease

    International Nuclear Information System (INIS)

    Zeng Mingyu; Liu Chunfeng

    2000-01-01

    Objective: To investigate the relation between cerebrovascular disease and symptomatic epilepsy. Method: 786 patients suffered cerebrovascular disease were retrospectively analyzed. Result: The occurrence rate of Secondary to Cerebrovascular Disease symptomatic epilepsy Secondary to Cerebrovascular Disease was 4.3%. Those older than 60 are prone to develop Acrodynia symptomatic epilepsy. Generalized epileptic seizure were often seen. Secondary to Cerebrovascular Disease epilepsy die to cortical lesion are more easily seem than subcortical lesion. Early epilepsy is more than late epilepsy. Conclusion: The cause of symptomatic epilepsy after cerebrovascular disease is not same in different types and course of CVD. Those who developed epilepsy particularly epilepsy continua would have bad prognosis

  6. Enfermedad cerebrovascular en Colombia Cerebrovascular disease in Colombia

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    Federico A Silva

    2006-10-01

    Full Text Available Introducción: la enfermedad cerebrovascular constituye un problema de salud pública mundial. En Colombia es la cuarta causa de muerte en la población adulta y genera una alta discapacidad en estos pacientes. Objetivo: describir algunos resultados obtenidos por el grupo de Ciencias Neurovasculares de la Fundación Cardiovascular de Colombia. Desarrollo y conclusiones: la enfermedad cerebrovascular es una entidad con una alta prevalencia en la población colombiana y genera discapacidad mental, motora y del lenguaje. Es necesaria la implementación de unidades de cuidado neurovascular con personal entrenado, protocolos definidos, tratamientos adecuados y tecnología de punta. En Colombia deben imponerse este tipo de unidades dentro del cuidado básico de los pacientes para disminuir la morbilidad, mortalidad y discapacidad generada en estos pacientes. La Fundación Cardiovascular de Colombia es pionera en la implementación de este tipo de cuidados.Introduction: cerebrovascular disease constitutes a worldwide public health problem. In Colombia, it is the fourth leading cause of death in the adult population and generates high disability in these patients. Objective: to describe some results obtained by the Neurovascular Sciences group from the Colombian Cardiovascular Foundation. Development and conclusions: cerebrovascular disease has a high prevalence in the Colombian population and generates mental, motor, and language disabilities. The implementation of neurovascular care units with trained personnel, defined protocols, adequate treatments and high technology, are necessary. This kind of units must be imposed in Colombia as a basic care for these patients in order to decrease morbidity, mortality and disability. The Colombian Cardiovascular Foundation is pioneer in the implementation of these care units.

  7. Non-invasive examination method for cerebrovascular diseases

    International Nuclear Information System (INIS)

    Chiba, Kazuo

    1979-01-01

    CT is superior in the diagnosis of the characteristics and the region of cerebrovascular diseases (CVD) to the examination with RI. The RI examination can only demonstrate the cerebrovascular diseases with large area disturbance of the cerebral cortex, that passed some days after the attack. Moreover, it is difficult to detect the small lesions or the lesions localized in the deep area such as the basal nucleus and the internal capsule by this method. A slight decrease and retardation in unilateral cerebral blood flow (under 20%, within 1.5 second) found by RI-angiography does not always indicate the side of the lesion of cerebrovascular diseases. It is expected that non-invasive examination method for CVD is improved more, and that more precise estimation method for regional cerebral circulation is developed. (Tsunoda, M.)

  8. In-hospital Mortality from Cerebrovascular Disease in the Province of Cienfuegos

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    Ada Sánchez Lozano

    2014-12-01

    Full Text Available Background: cerebrovascular disease is the second leading cause of death in some countries, causing 10 million annual deaths. In-hospital mortality from these diseases is high in our country. Objective: to describe mortality from cerebrovascular disease at the Dr. Gustavo Aldereguía Lima University General Hospital in Cienfuegos during 2006-2010. Methods: a retrospective case series study involving all patients (4449 diagnosed with cerebrovascular disease discharged from the Dr. Gustavo Aldereguía Lima University General Hospital from January 1st, 2006 to December 31, 2010 was conducted. The variables analyzed included age, sex, status at discharge, types of cerebrovascular disease and hospital stay. Results: in-hospital mortality from cerebrovascular disease in the study period was 23.8 %. It was higher in men than in women (24.5 % and 22.9 %, respectively. According to the type of cerebrovascular disease, mortality rate of ischemic stroke was 20 %, subarachnoid hemorrhage, 22.4 % and intraparenchymal hemorrhage, 71.2 %. Conclusions: in-hospital mortality from cerebrovascular disease in Cienfuegos shows a downward trend, though it increased in 2010. It was more common in men. Death from stroke tends to decrease and, to a lesser extent, mortality due to brain hemorrhage, which remains high. There is also an increase in subarachnoid hemorrhage.

  9. Clinical application of SPECT and PET in cerebrovascular disease

    International Nuclear Information System (INIS)

    Ra, Young Shin

    2003-01-01

    Single photon emission computed tomography(SPECT) and positron emission tomography(PET) are modern imaging techniques that allow for both qualitative are quantitative assessment of hemodynamic changes in cerebrovascular diseases. SPECT has been becoming an indispensable method to investigate regional cerebral blood flow because equipment and isotope are easily available in most general hospitals. Acetazolamide stress SPECT has also been proved to be useful to evaluate the cerebrovascular reserve of occlusive cerebrovascular diseases and to select surgical candidate. PET has gained wide spread clinical use in the evaluation of the hemodynamic and metabolic consequences of extracranial or intracranial arterial obstructive disease despite its complexity and limited availability. PET has been established as an invaluable tool in the pathophysilogy investigation of acute ischemic stroke. The potentials, limitations, and clinical applications of SPECT and PET in various cerebrovascular diseases will be discussed in this article with reviews of literatures

  10. Clinical application of SPECT and PET in cerebrovascular disease

    Energy Technology Data Exchange (ETDEWEB)

    Ra, Young Shin [Ulsan University College of Medicine, Seoul (Korea, Republic of)

    2003-02-01

    Single photon emission computed tomography(SPECT) and positron emission tomography(PET) are modern imaging techniques that allow for both qualitative are quantitative assessment of hemodynamic changes in cerebrovascular diseases. SPECT has been becoming an indispensable method to investigate regional cerebral blood flow because equipment and isotope are easily available in most general hospitals. Acetazolamide stress SPECT has also been proved to be useful to evaluate the cerebrovascular reserve of occlusive cerebrovascular diseases and to select surgical candidate. PET has gained wide spread clinical use in the evaluation of the hemodynamic and metabolic consequences of extracranial or intracranial arterial obstructive disease despite its complexity and limited availability. PET has been established as an invaluable tool in the pathophysilogy investigation of acute ischemic stroke. The potentials, limitations, and clinical applications of SPECT and PET in various cerebrovascular diseases will be discussed in this article with reviews of literatures.

  11. Chronic Pancreatitis Correlates With Increased Risk of Cerebrovascular Disease

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    Wong, Tuck-Siu; Liao, Kuan-Fu; Lin, Chi-Ming; Lin, Cheng-Li; Chen, Wen-Chi; Lai, Shih-Wei

    2016-01-01

    Abstract The aim of this study is to explore whether there is a relationship between chronic pancreatitis and cerebrovascular disease in Taiwan. Using the claims data of the Taiwan National Health Insurance Program, we identified 16,672 subjects aged 20 to 84 years with a new diagnosis of chronic pancreatitis from 2000 to 2010 as the chronic pancreatitis group. We randomly selected 65,877 subjects aged 20 to 84 years without chronic pancreatitis as the nonchronic pancreatitis group. Both groups were matched by sex, age, comorbidities, and the index year of diagnosing chronic pancreatitis. The incidence of cerebrovascular disease at the end of 2011 was measured. The multivariable Cox proportional hazards regression model was used to measure the hazard ratio (HR) and 95% confidence interval (CI) for cerebrovascular disease risk associated with chronic pancreatitis and other comorbidities. The overall incidence of cerebrovascular disease was 1.24-fold greater in the chronic pancreatitis group than that in the nonchronic pancreatitis group (14.2 vs. 11.5 per 1000 person-years, 95% CI = 1.19–1.30). After controlling for confounding factors, the adjusted HR of cerebrovascular disease was 1.27 (95% CI = 1.19–1.36) for the chronic pancreatitis group as compared with the nonchronic pancreatitis group. Woman (adjusted HR = 1.41, 95% CI = 1.31–1.51), age (every 1 year, HR = 1.04, 95% CI = 1.04–1.05), atrial fibrillation (adjusted HR = 1.23, 95% CI = 1.02–1.48), chronic kidney disease (adjusted HR = 1.48, 95% CI = 1.31–1.67), chronic obstructive pulmonary disease (adjusted HR = 1.27, 95% CI = 1.16–1.40), diabetes mellitus (adjusted HR = 1.82, 95% CI = 1.72–1.92), hypertension (adjusted HR = 1.66, 95% CI = 1.56–1.76), and peripheral atherosclerosis (adjusted HR = 1.26, 95% CI = 1.06–1.51) were other factors significantly associated with cerebrovascular disease. Chronic pancreatitis is

  12. Autocrine release of angiopoietin-2 mediates cerebrovascular disintegration in Moyamoya disease.

    Science.gov (United States)

    Blecharz, Kinga G; Frey, Dietmar; Schenkel, Tobias; Prinz, Vincent; Bedini, Gloria; Krug, Susanne M; Czabanka, Marcus; Wagner, Josephin; Fromm, Michael; Bersano, Anna; Vajkoczy, Peter

    2017-04-01

    Moyamoya disease is a rare steno-occlusive cerebrovascular disorder often resulting in hemorrhagic and ischemic strokes. Although sharing the same ischemic stimulus with atherosclerotic cerebrovascular disease, Moyamoya disease is characterized by a highly instable cerebrovascular system which is prone to rupture due to pathological neovascularization. To understand the molecular mechanisms underlying this instability, angiopoietin-2 gene expression was analyzed in middle cerebral artery lesions obtained from Moyamoya disease and atherosclerotic cerebrovascular disease patients. Angiopoietin-2 was significantly up-regulated in Moyamoya vessels, while serum concentrations of soluble angiopoietins were not changed. For further evaluations, cerebral endothelial cells incubated with serum from these patients in vitro were applied. In contrast to atherosclerotic cerebrovascular disease serum, Moyamoya disease serum induced an angiopoietin-2 overexpression and secretion, accompanied by loss of endothelial integrity. These effects were absent or inverse in endothelial cells of non-brain origin suggesting brain endothelium specificity. The destabilizing effects on brain endothelial cells to Moyamoya disease serum were partially suppressed by the inhibition of angiopoietin-2. Our findings define brain endothelial cells as the potential source of vessel-destabilizing factors inducing the high plasticity state and disintegration in Moyamoya disease in an autocrine manner. We also provide new insights into Moyamoya disease pathophysiology that may be helpful for preventive treatment strategies in future.

  13. Positron emission tomography in cerebrovascular disease

    International Nuclear Information System (INIS)

    Powers, W.J.

    1988-01-01

    This paper reviews and discusses those aspects of PET that are relevant to its current and future role in the clinical care of individual patients with ischemic cerebrovascular disease. In making a judgement about the value of any diagnostic test in the management of patients with a specific disease, one must decide what criteria to apply. It is tempting to conclude that any test that provides accurate data related to the pathophysiology of the disease under consideration must be clinically useful. This is not necessarily the case, however, if the data do not lead to better patient care by reducing either morbidity and mortality or expense. Such is currently the case for PET in human cerebrovascular disease. The data that PET can provide on CBF, CBV, OEF, and CMRO 2 are accurate and are directly related to the pathophysiology of cerebral ischemia. As yet, however, there is no evidence that the application of these data leads to improvements in patient care

  14. Diamox-enhanced brain SPECT in cerebrovascular diseases

    International Nuclear Information System (INIS)

    Choi, Yun Young

    2007-01-01

    Acute event in cerebrovascular disease is the second most common cause of death in Korea following cancer, and it can also cause serious neurologic deficits. Understanding of perfusion status is important for clinical applications in management of patients with cerebrovascular diseases, and then the attacks of ischemic neurologic symptoms and the risk of acute events can be reduced. Therefore, the normal vascular anatomy of brain, various clinical applications of acetazolamide-enhanced brain perfusion SPECT, including meaning and role of assessment of vascular reserve in carotid stenosis before procedure, in pediatric Moyamoya disease before and after operation, in prediction of development of hyperperfusion syndrome before procedure, and in prediction of vasospasm and of prognosis in subarachnoid hemorrhage were reviewed in this paper

  15. Auditory Dysfunction in Patients with Cerebrovascular Disease

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    Sadaharu Tabuchi

    2014-01-01

    Full Text Available Auditory dysfunction is a common clinical symptom that can induce profound effects on the quality of life of those affected. Cerebrovascular disease (CVD is the most prevalent neurological disorder today, but it has generally been considered a rare cause of auditory dysfunction. However, a substantial proportion of patients with stroke might have auditory dysfunction that has been underestimated due to difficulties with evaluation. The present study reviews relationships between auditory dysfunction and types of CVD including cerebral infarction, intracerebral hemorrhage, subarachnoid hemorrhage, cerebrovascular malformation, moyamoya disease, and superficial siderosis. Recent advances in the etiology, anatomy, and strategies to diagnose and treat these conditions are described. The numbers of patients with CVD accompanied by auditory dysfunction will increase as the population ages. Cerebrovascular diseases often include the auditory system, resulting in various types of auditory dysfunctions, such as unilateral or bilateral deafness, cortical deafness, pure word deafness, auditory agnosia, and auditory hallucinations, some of which are subtle and can only be detected by precise psychoacoustic and electrophysiological testing. The contribution of CVD to auditory dysfunction needs to be understood because CVD can be fatal if overlooked.

  16. Risk factors of cerebrovascular diseases and their intervention and management

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    En XU

    2015-01-01

    Full Text Available Cerebrovascular diseases are important causes of clinical death and disability because of high prevalence and morbidity and easy to recurrence. A number of risk factors have involved in the progress of cerebrovascular diseases, which include uncontrolled and controlled risk factors. The former refers to old age, gender, low birth weight, race/ethnicity, genetic factors, etc. The latter includes hypertension, diabetes mellitus, atrial fibrillation and other cardiac diseases, dyslipidemia, asymptomatic carotid stenosis, obesity, smoking, unhealthy lifestyle, alcoholism, metabolic syndrome, hyperhomocysteinemia, etc. Meanwhile, hypertension is the most important one in the above-mentioned risk factors. It would effectively reduce or postpone the onset of cerebrovascular diseases through proper intervention and management on those risk factors. DOI: 10.3969/j.issn.1672-6731.2015.01.006

  17. Industrial accident compensation insurance benefits on cerebrovascular and heart disease in Korea.

    Science.gov (United States)

    Kim, Hyeong Su; Choi, Jae Wook; Chang, Soung Hoon; Lee, Kun Sei

    2003-01-01

    The purpose of this study is to present the importance of work-related cerebrovascular and heart disease from the viewpoint of expenses. Using the insurance benefit paid for the 4,300 cases, this study estimated the burden of insurance benefits spent on work-related cerebrovascular and heart disease. The number of cases with work-related cerebrovascular and heart disease per 100,000 insured workers were 3.36 in 1995; they were increased to 13.16 in 2000. By the days of occurrence, the estimated number of cases were 1,336 in 2001 (95% CI: 1,211-1,460 cases) and 1,769 in 2005 (CI: 1,610-1,931 cases). The estimated average insurance benefits paid per person with work-related cerebrovascular and heart disease was 75-19 million won for medical care benefit and 56 million won for other benefits except medical care. By considering the increase in insurance payment and average pay, the predicted insurance benefits for work-related cerebrovascular and heart disease was 107.9 billion won for the 2001 cohort and 192.4 billion won for the 2005 cohort. From an economic perspective, the results will be used as important evidence for the prevention and management of work-related cerebrovascular and heart disease. PMID:12923322

  18. Cerebrovascular disease in Utah, 1968--1971.

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    Lyon, J L; Bishop, C T; Nielsen, N S

    1981-01-01

    Utah mortality rates for cerebrovascular disease (ICD numbers 430--438) are 13% below U.S. rates. About 70% of Utahns are members of the Church of Jesus Christ of Latter-day Saints, commonly called Mormons of LDS, which proscribes use of tobacco and alcohol. Other studies on this group have found significantly lower occurrence of many cancers and ischemic heart disease. We tested the hypothesis that Utah's lower cerebrovascular disease (CBVD) mortality was contributed by the LDS population. We classified by religion all CBVD deaths (2,521) (except subarachnoid hemorrhage and cerebral embolism) occurring in the state in 1968--1971. No significant difference was found between LDS and non-LDS, but both groups had mortality rates below U.S. expectation. Although recent studies have reported smoking to be a risk factor for CBVD, we found no consistent difference between the LDS and non-LDS, even in the younger age groups. The results do not support the hypothesis that tobacco is an important etiologic agent in CBVD mortality.

  19. Cerebral blood flow in sickle cell cerebrovascular disease

    International Nuclear Information System (INIS)

    Huttenlocher, P.R.; Moohr, J.W.; Johns, L.; Brown, F.D.

    1984-01-01

    Cerebral blood flow (CBF) has been studied by the xenon-133 ( 133 Xe) inhalation method in 16 children with suspected sickle cell cerebrovascular disease. Abnormalities consisting of decreases in total, hemispheral, or regional CBF were found in 17 of 26 studies. Eleven studies performed immediately after stroke, transient ischemic attack, or depression of state of alertness showed abnormalities. In addition to confirming regional cerebrovascular insufficiency in children with stroke due to major cerebral artery occlusion, the method detected diffuse decrease in CBF in children with stupor, coma, and seizures who had normal angiographic findings. In contrast, six of seven studies obtained after exchange transfusion or during maintenance on hypertransfusion therapy showed normal findings. The difference between results in patients with acute neurologic disturbances and those receiving transfusion therapy was statistically significant (P less than .005). The data indicate that the 133 Xe method reliably demonstrates cerebrovascular impairment in sickle cell disease. They also suggest that CBF changes in patients with sickle cell disease can be reversed by exchange transfusion and by hypertransfusion therapy. The 133 Xe CBF method may be useful for following up children with sickle cell disease who are at high risk for recurrent stroke

  20. HM-PAO SPECT in the diagnosis of cerebrovascular disease

    International Nuclear Information System (INIS)

    Cordes, M.; Rummeny, E.; Reissmann, M.; Fox, K.; Panitz, N.; Pfannenstiel, P.

    1987-01-01

    Single photon emission computed tomography (SPECT) after injection of 99m-Tc-HM-PAO was used to examine 34 patients whose clinical findings could not exclude a cerebrovascular disease. In all patients an X-ray computed tomography examination was inconclusive for the clinical-neurological findings. The regional cerebral bloodflow was pathologically disturbed in 10 of 34 patients in the HM-PAO SPECT examination. The detection of the regional cerebral bloodflow with HM-PAO SPECT is helpful in the diagnosis of cerebrovascular disease. (orig.) [de

  1. [Direct economic burden of cerebrovascular disease, during 1993-2008 in China].

    Science.gov (United States)

    Lu, Jing; Xu, Ling; Zhai, Yi; Zhang, Yaoguang; Lyu, Yuebin; Shi, Xiaoming

    2014-11-01

    To evaluate the status and trend of direct economic burden on cerebrovascular disease, from 1993 to 2008 in China. Using two-step model to calculate the economic cost with related trend of cerebrovascular disease within the population among the over 30-year-olds, from 1993 to 2008. Data was gathered from the National Health Service Surveys Analysis Reports of 1993, 1998, 2003 and 2008, that including both direct outpatient and inpatient cost. There appeared a significant increase on the burden of cerebrovascular diseases in the period of 15 years, with direct economic cost increasing from 8.473 billion to 103.125 billion RMB. In fact, the actual increase was 5.3 times, without the influence of the price. The average annual growth rate was 13.1%, exceeding the rate of total expenditure on health and GDP during the same time span. In addition, the growth rate in 2003-2008 was the fastest, which appeared to be 19.8%. Burden that caused by cerebrovascular disease on individuals and the whole society was heavy which warrented further theoratical and practical studies on it.

  2. Neuropsychological evaluation of children after ischemic cerebrovascular disease

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    Guimarães Inês Elcione

    2002-01-01

    Full Text Available The purpose of this study is to associate neuropsychological evaluation with neuroimaging results in children with cerebral tomography indicating ischemic cerebrovascular disease (ICVD. Neuroimaging, neurological exams and neuropsychological instruments were used to evaluate five children. The study revealed that the cognitive and perceptive skills in two children were normal and motor sequele in four cases. The rhythm, visual and speech receptive skills remained unchanged. In four cases the SPECT exam showed regions with hypoperfusion and in four cases the EEG was normal. Neuropsychological, neurological and image indication some degree of sequele demonstrating the importance of follow up of children who had suffered cerebrovascular disease.

  3. Aspirin Allergy Desensitization in Cerebrovascular Disease

    Science.gov (United States)

    Zuckerman, Scott L; Seder, David B; Tsujiura, Crystiana; Cushing, Deborah; Gallup, Holly; Mocco, J; Hanel, Richard A; Ecker, Robert D

    2014-01-01

    Summary Aspirin (ASA) is the mainstay of treatment in cerebrovascular and systemic vascular disease. ASA hypersensitivity can pose a challenge to achieving optimum medical management prior to and after neurointerventional treatment. Desensitization to ASA is well described in the allergy and cardiovascular literature, but there are no similar discussions specific to neurointervention. The purpose of our study was to describe our experience with ASA hypersensitivity management and review the relevant literature. Two cases of patients with symptomatic cerebrovascular disease requiring neurointervention who were successfully desensitized to their ASA hypersensitivity prior to treatment are described. The subsequent literature is reviewed. Several ASA desensitization protocols exist and have been proven to successfully treat ASA hypersensitivity and allow for ASA therapy to be safely initiated. We describe several previously published protocols. ASA desensitization is a safe and simple way to manage ASA hypersensitivity. We provide comprehensive management guidelines for the neurointerventionalist engaging in ASA desensitization. PMID:24556294

  4. l-arginine and l-NMMA for assessing cerebral endothelial dysfunction in ischaemic cerebrovascular disease

    DEFF Research Database (Denmark)

    Karlsson, William K; Sørensen, Caspar G; Kruuse, Christina

    2017-01-01

    Endothelial dysfunction (ED), in particular cerebral ED, may be an essential biomarker for ischaemic cerebrovascular disease. However, there is no consensus on methods to best estimate cerebral ED. In this systematic review, we evaluate the use of l-arginine and NG -monomethyl-l-arginine (l......-NMMA) for assessment of cerebral ED. A systematic search of PubMed, EMBASE and the Cochrane Library was done. We included studies investigating cerebrovascular response to l-arginine or l-NMMA in human subjects with vascular risk factors or ischaemic cerebrovascular disease. Seven studies (315 subjects) were eligible...... cerebrovascular disease. Inconsistencies in results were most likely due to variations in methods and included subject populations. In order to use cerebral ED as a prognostic marker, further studies are required to evaluate the association to cerebrovascular disease....

  5. The role of inflammation and interleukin-1 in acute cerebrovascular disease

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    Galea J

    2013-08-01

    Full Text Available James Galea,1 David Brough21Manchester Academic Health Sciences Center, Brain Injury Research Group, Clinical Sciences Building, Salford Royal Foundation Trust, Salford, UK; 2Faculty of Life Sciences, University of Manchester, AV Hill Building, Manchester, UKAbstract: Acute cerebrovascular disease can affect people at all stages of life, from neonates to the elderly, with devastating consequences. It is responsible for up to 10% of deaths worldwide, is a major cause of disability, and represents an area of real unmet clinical need. Acute cerebrovascular disease is multifactorial with many mechanisms contributing to a complex pathophysiology. One of the major processes worsening disease severity and outcome is inflammation. Pro-inflammatory cytokines of the interleukin (IL-1 family are now known to drive damaging inflammatory processes in the brain. The aim of this review is to discuss the recent literature describing the role of IL-1 in acute cerebrovascular disease and to provide an update on our current understanding of the mechanisms of IL-1 production. We also discuss the recent literature where the effects of IL-1 have been targeted in animal models, thus reviewing potential future strategies that may limit the devastating effects of acute cerebrovascular disease.Keywords: cerebral ischemia, stroke, inflammation, microglia, interleukin-1, caspase-1

  6. Promotor polymorphisms in leukotriene C4 synthase and risk of ischemic cerebrovascular disease

    DEFF Research Database (Denmark)

    Freiberg, J.J.; Tybjaerg-Hansen, A.; Sillesen, H.

    2008-01-01

    OBJECTIVE: Cysteinyl leukotrienes are involved in inflammation and possibly in early carotid atherosclerosis. We tested the hypothesis that the -444 A/C and -1072 G/A polymorphisms of the leukotriene C(4) synthase associate with risk of ischemic cerebrovascular disease. METHODS AND RESULTS: We...... genotyped 10 592 individuals from the Danish general population, the Copenhagen City Heart Study. During 24 years of follow-up, 557 individuals developed ischemic cerebrovascular disease. The allele frequency was 0.07 for -1072 A and 0.29 for -444 C. Cumulative incidence for ischemic cerebrovascular disease...... was higher for -1072 AA versus GG genotype (log-rank: P=0.002), and lower for -444 CC versus AA genotype (log-rank: P=0.008). Combined genotypes showed corresponding cumulative incidence differences (log-rank: P=0.003). Multifactorially adjusted hazard ratios for ischemic cerebrovascular disease were 2...

  7. Cerebrovascular reserve capacity is impaired in patients with sickle cell disease

    NARCIS (Netherlands)

    Nur, Erfan; Kim, Yu-Sok; Truijen, Jasper; van Beers, Eduard J.; Davis, Shyrin C. A. T.; Brandjes, Dees P.; Biemond, Bart J.; van Lieshout, Johannes J.

    2009-01-01

    Sickle cell disease (SCD) is associated with a high incidence of ischemic stroke. SCD is characterized by hemolytic anemia, resulting in reduced nitric oxide-bioavailability, and by impaired cerebrovascular hemodynamics. Cerebrovascular CO2 responsiveness is nitric oxide dependent and has been

  8. NSAIDs and cardiovascular drugs in neurodegenerative and cerebrovascular diseases

    NARCIS (Netherlands)

    M.D.M. Haag (Mendel)

    2009-01-01

    textabstractNeurodegenerative and cerebrovascular diseases are frequent in elderly populations and comprise primarily of dementia (mainly Alzheimer disease (AD)), Parkinson disease (PD) and stroke. The prevalence of these neurological disorders rises with older age. From 55 years to 90 years and

  9. Autumn Weather and Winter Increase in Cerebrovascular Disease Mortality

    LENUS (Irish Health Repository)

    McDonagh, R

    2016-11-01

    Mortality from cerebrovascular disease increases in winter but the cause is unclear. Ireland’s oceanic climate means that it infrequently experiences extremes of weather. We examined how weather patterns relate to stroke mortality in Ireland. Seasonal data for Sunshine (% of average), Rainfall (% of average) and Temperature (degrees Celsius above average) were collected for autumn (September-November) and winter (December-February) using official Irish Meteorological Office data. National cerebrovascular mortality data was obtained from Quarterly Vital Statistics. Excess winter deaths were calculated by subtracting (nadir) 3rd quarter mortality data from subsequent 1st quarter data. Data for 12 years were analysed, 2002-2014. Mean winter mortality excess was 24.7%. Winter mortality correlated with temperature (r=.60, p=0.04). Rise in winter mortality correlated strongly with the weather in the preceding autumn (Rainfall: r=-0.19 p=0.53, Temperature: r=-0.60, p=0.03, Sunshine, r=0.58, p=0.04). Winter cerebrovascular disease mortality appears higher following cool, sunny autum

  10. A meta-analysis of cerebrovascular disease and hyperhomocysteinaemia

    DEFF Research Database (Denmark)

    Nielsen, G M; Tvedegaard, K C; Andersen, Niels Trolle

    2000-01-01

    Hyperhomocysteinaemia has been identified as a risk factor for stroke and cerebrovascular disease in several studies. To evaluate the evidence we performed a meta-analysis. We found 21 studies searching Medline from 1966-July 1999 using the key words homocysteine, homocystine and cerebrovascular...... was used. The reports on 8 cross-sectional and 4 longitudinal studies gave data on the mean and standard deviations of plasma or serum homocysteine for both cases and controls, and these studies were included in the meta-analysis. The results of the 5 excluded studies all pointed to a positive relationship...

  11. Loss-of-function mutation in ABCA1 and risk of Alzheimer's disease and cerebrovascular disease

    DEFF Research Database (Denmark)

    Nordestgaard, Liv Tybjærg; Tybjærg-Hansen, Anne; Nordestgaard, Børge G

    2015-01-01

    .2%) versus AA (99.8%) was associated with a 13% lower plasma level of apoE (P = 1 × 10(-11)). Multifactorially adjusted hazard ratios for N1800H AC versus AA were 4.13 (95% confidence interval, 1.32-12.9) for AD, 2.46 (1.10-5.50) for cerebrovascular disease, and 8.28 (2.03-33.7) for the hemorrhagic stroke......-brain barrier via apoE-mediated pathways. METHODS: We tested whether a loss-of-function mutation in ABCA1, N1800H, is associated with plasma levels of apoE and with risk of Alzheimer's disease (AD) in 92,726 individuals and with risk of cerebrovascular disease in 64,181 individuals. RESULTS: N1800H AC (0...... subtype. DISCUSSION: A loss-of-function mutation in ABCA1, present in 1:500 individuals, was associated with low plasma levels of apoE and with high risk of AD and cerebrovascular disease in the general population....

  12. Advances in endovascular therapy for ischemic cerebrovascular diseases

    Directory of Open Access Journals (Sweden)

    Jun Lu

    2016-09-01

    Full Text Available Endovascular therapy for ischemic cerebrovascular diseases has developed rapidly in recent years. The latest clinical trials of acute ischemic stroke have shown promising results with the continued advancement of concepts, techniques, and materials. Mechanical thrombectomy is recommended in the treatment of acute ischemic stroke caused by large vessel occlusion of the anterior circulation, according to the guidelines updated in Europe, USA, and China. The long-term therapeutic efficacy of endovascular stenting for carotid artery stenosis has also been proved noninferior to that of carotid endarterectomy. However, the latest clinical trials have shown that the efficacy of stenting for intracranial artery and vertebral artery stenosis is inferior to that of medical treatment alone, which needs urgent attention through further development and studies. Keywords: Ischemic cerebrovascular diseases, Interventional surgery, Progress

  13. Study of plasma neuropeptide levels in patients with acute cardiovascular and cerebrovascular disease

    International Nuclear Information System (INIS)

    Xu Youfen; Lan Suixin; Chen Yu; He Ling; Huang Yuan; Ma Yaling

    2003-01-01

    Objective: To explore the relationship between the dynamic changes of plasma neuropeptide (β-EP, NT, NPY) levels and the pathogenesis as well as clinical outcomes of acute cardiovascular and cerebrovascular diseases. Methods: The concentrations of serum neuropeptides (β-EP, NT, NPY) were measured on the 1 st, 3 rd, 7 th, 14 th day after the onset of disease with RIA in 103 patients with acute cardiovascular and cerebrovascular diseases (38 cases of acute cerebral infarction, 32 cases of cerebral hemorrhage, 33 cases of acute myocardial infarction and acute heart failure) and 66 controls. Results: 1. NPY, NT and β-EP levels in patients with acute cardiovascular and cerebrovascular disease were significantly higher than those in controls (p<0.01). (F=39.54, p<0.01; F=33.38, p<0.01; F=8.38, p<0.01 For β-EP, NPY and NT respectively). 2. The plasma neuropeptide levels were highest at onset and gradually lowered till to normal levels on the 14 th day. Conclusion: Plasma neuropeptide levels were closely related to the pathogenesis and clinical outcome of acute cardiovascular and cerebrovascular diseases, study of which might be useful in the clinical management of the diseases

  14. SYSTOLIC HYPERTENSION. IMPACT ON CEREBROVASCULAR DISEASE

    Directory of Open Access Journals (Sweden)

    Juan Eloy Cruz Quesada

    2011-08-01

    Full Text Available Background: Atherosclerosis is a multifactor process in which several risk factors are involved. It is the leading cause of death and morbidity in hospital admitted patients, and it may cause a marked decrease in blood flow to all organs of the body.Objective: To determine the impact of systolic hypertension on cerebrovascular disease.Methods: A cross-sectional, observational and analytical study was conducted in 59 death patients who suffered from hypertension. Cerebral arteries were analyzed and atherosclerotic lesion and its variety were quantified by using the atherometric system. The different types of hypertension were considered. Statistical (central tendency measures and comparative (comparison test based on Student’s arithmetic t-test procedures were used.Results: Recent strokes were more frequent in systodiastolic hypertensive patients. There was no significant difference in the injury onset age for both sexes, but women with systolic hypertension were significantly more damaged (from a morphometric point of view. Significant correlation for both groups of hypertensive patients was observed between type of stroke and atherometric system variables.Conclusions: Systolic hypertension is an important factor in the genesis of cerebrovascular disease and is associated with the progression of atherosclerotic plaque.

  15. Imaging neurochemistry of cerebrovascular disease with PET and SPECT

    International Nuclear Information System (INIS)

    Hatazawa, J.; Shimosegawa, E.

    1998-01-01

    Pathophysiology od cerebrovascular disease has been studied by measuring cerebral blood flow and energy metabolism using single photon emission computed tomography (SPECT) and positron emission tomography (PET). These parameters are measures for brain tissue consisting of heterogeneous components such as neurons, glial cells, and blood vessels. It is still difficult to evaluate brain damages specifically involving either neurons or other components. Several trials were recently conducted to visualize neuron-specific injury in cerebrovascular disease by means of 11 C flumazenil for PET and 123 I-iomazenil for SPECT. These tracers selectively bind to central benzodiazepine receptor which is purely neuronal. A reduced accumulation of these ligands was found in the area surrounding the complete infarction and in the cortex remote from putaminal hemorrhage, indicating the existence of neuron specific injury not visualized by CT and MR. Neurological deficits were well correlated with the loss of cortical accumulation of these ligands. These preliminary studies indicated a potential of neurochemical imaging in cerebrovascular disease. Vulnerability to ischemia which may differ among brain tissue components, among subpopulations of neurons, and among pre-synaptic and post-synaptic functions can be more precisely examined. Neurochemical imaging can be also applied to reveal releases and re-organization of each neurotransmitter-acceptor system after stroke

  16. Imaging neurochemistry of cerebrovascular disease with PET and SPECT

    Energy Technology Data Exchange (ETDEWEB)

    Hatazawa, J.; Shimosegawa, E. [Akita Research Institute of Brain and Blood Vessels, Akita (Japan). Dept. of Radiology and Nuclear Medicine

    1998-09-01

    Pathophysiology od cerebrovascular disease has been studied by measuring cerebral blood flow and energy metabolism using single photon emission computed tomography (SPECT) and positron emission tomography (PET). These parameters are measures for brain tissue consisting of heterogeneous components such as neurons, glial cells, and blood vessels. It is still difficult to evaluate brain damages specifically involving either neurons or other components. Several trials were recently conducted to visualize neuron-specific injury in cerebrovascular disease by means of {sup 11}C flumazenil for PET and {sup 123}I-iomazenil for SPECT. These tracers selectively bind to central benzodiazepine receptor which is purely neuronal. A reduced accumulation of these ligands was found in the area surrounding the complete infarction and in the cortex remote from putaminal hemorrhage, indicating the existence of neuron specific injury not visualized by CT and MR. Neurological deficits were well correlated with the loss of cortical accumulation of these ligands. These preliminary studies indicated a potential of neurochemical imaging in cerebrovascular disease. Vulnerability to ischemia which may differ among brain tissue components, among subpopulations of neurons, and among pre-synaptic and post-synaptic functions can be more precisely examined. Neurochemical imaging can be also applied to reveal releases and re-organization of each neurotransmitter-acceptor system after stroke.

  17. Long-term exposure to ambient air pollution and mortality due to cardiovascular disease and cerebrovascular disease in Shenyang, China.

    Directory of Open Access Journals (Sweden)

    Pengfei Zhang

    Full Text Available BACKGROUND: The relationship between ambient air pollution exposure and mortality of cardiovascular and cerebrovascular diseases in human is controversial, and there is little information about how exposures to ambient air pollution contribution to the mortality of cardiovascular and cerebrovascular diseases among Chinese. The aim of the present study was to examine whether exposure to ambient-air pollution increases the risk for cardiovascular and cerebrovascular disease. METHODOLOGY/PRINCIPAL FINDINGS: We conducted a retrospective cohort study among humans to examine the association between compound-air pollutants [particulate matter <10 µm in aerodynamic diameter (PM(10, sulfur dioxide (SO(2 and nitrogen dioxide (NO(2] and mortality in Shenyang, China, using 12 years of data (1998-2009. Also, stratified analysis by sex, age, education, and income was conducted for cardiovascular and cerebrovascular mortality. The results showed that an increase of 10 µg/m(3 in a year average concentration of PM(10 corresponds to 55% increase in the risk of a death cardiovascular disease (hazard ratio [HR], 1.55; 95% confidence interval [CI], 1.51 to 1.60 and 49% increase in cerebrovascular disease (HR, 1.49; 95% CI, 1.45 to 1.53, respectively. The corresponding figures of adjusted HR (95%CI for a 10 µg/m(3 increase in NO(2 was 2.46 (2.31 to 2.63 for cardiovascular mortality and 2.44 (2.27 to 2.62 for cerebrovascular mortality, respectively. The effects of air pollution were more evident in female that in male, and nonsmokers and residents with BMI<18.5 were more vulnerable to outdoor air pollution. CONCLUSION/SIGNIFICANCE: Long-term exposure to ambient air pollution is associated with the death of cardiovascular and cerebrovascular diseases among Chinese populations.

  18. Asymptomatic Extracranial Artery Stenosis and the Risk of Cardiovascular and Cerebrovascular Diseases

    OpenAIRE

    Wang, Dandan; Wang, Jing; Jin, Cheng; Ji, Ruijun; Wang, Anxin; Li, Xin; Gao, Xiang; Wu, Shouling; Zhou, Yong; Zhao, Xingquan

    2016-01-01

    Asymptomatic extracranial artery stenosis (ECAS) is a well-known risk factor for stroke events, but it remains unclear whether it has the same role in predicting cardiovascular and cerebrovascular diseases, especially in China. We investigated the potential associations between ECAS, carotid plaque and carotid intima-media thickness and the new occurrence of cardiovascular and cerebrovascular diseases in the study. Out of 5440 study participants, 364 showed an asymptomatic ECAS at baseline, a...

  19. Dynamic computed tomography findings in cerebrovascular diseases

    International Nuclear Information System (INIS)

    Araki, Yutaka; Tomoda, Kaname; Kariya, Mitsumasa; Mori, Shigeru; Mitomo, Masanori.

    1988-01-01

    Dynamic CT was performed with 41 patients with the clinically diagnosed cerebrovascular diseases. A visual evaluation based on the dynamic CT images classified six patterns of brain parenchymal enhancement, especially four patterns of which could only be detected by dynamic CT technique. Dynamic CT was proved of great value in detecting regional cerebral tissue filled by collaterals in retrograde fashion because of the occlusion of main arteries, namely brain tissue perfusion of internal carotid occlusion disease and moyamoya disease was best understood by dynamic CT with adequate resolution. (author)

  20. Alzheimer's disease: Cerebrovascular dysfunction, oxidative stress, and advanced clinical therapies

    NARCIS (Netherlands)

    Marlatt, M.W.; Lucassen, P.J.; Perry, G.; Smith, M.A.; Zhu, X.

    2008-01-01

    Many lines of independent research have provided convergent evidence regarding oxidative stress, cerebrovascular disease, dementia, and Alzheimer's disease (AD). Clinical studies spurred by these findings engage basic and clinical communities with tangible results regarding molecular targets and

  1. Three-dimensional CT angiography in the diagnosis of cerebrovascular disease

    International Nuclear Information System (INIS)

    Eguchi, Takahiko; Nikaido, Yuji; Nakamura, Takeshi; Yoneda, Shigeru

    1995-01-01

    We reported the usefulness of three dimensional CT angiography (3 DCTA) in cerebrovascular disease. Twenty two of twenty three intracerebral aneurysms were visualized in 3 DCTA. 3 DTPA was especially useful for the evaluation of posterior-projection anterior communicating arteries and the distinction between a carotid-posterior communicating aneurysm and an infundibular dilatation. An anterior-projection carotid bifurcation aneurysm, which we missed in DSA, was visualized clearly in 3 DCTA. Stenotic cervical carotid artery lesions were well evaluated in 3 DCTA, including ulceration. 3 DCTA was not so useful for evaluation of intracranial artery stenosis. 3 DCTA was useful as a non-invasive method to evaluate cerebrovascular diseases. (author)

  2. L-arginine and L-NMMA for Assessing Cerebral Endothelial Dysfunction in Ischemic Cerebrovascular Disease: A Systematic Review

    DEFF Research Database (Denmark)

    Karlsson, William Kristian; Sørensen, Caspar Godthaab; Kruuse, Christina

    2017-01-01

    Endothelial dysfunction (ED), in particular cerebral ED, may be an essential biomarker for ischaemic cerebrovascular disease. However, there is no consensus on methods to best estimate cerebral ED. In this systematic review, we evaluate the use of l-arginine and NG -monomethyl-l-arginine (l......-NMMA) for assessment of cerebral ED. A systematic search of PubMed, EMBASE and the Cochrane Library was done. We included studies investigating cerebrovascular response to l-arginine or l-NMMA in human subjects with vascular risk factors or ischaemic cerebrovascular disease. Seven studies (315 subjects) were eligible...... cerebrovascular disease. Inconsistencies in results were most likely due to variations in methods and included subject populations. In order to use cerebral ED as a prognostic marker, further studies are required to evaluate the association to cerebrovascular disease....

  3. The diagnosis and management of cerebrovascular disease in diabetes.

    Science.gov (United States)

    Phipps, Michael S; Jastreboff, Ania M; Furie, Karen; Kernan, Walter N

    2012-06-01

    Cerebrovascular disease is a leading cause of morbidity and mortality in diabetes. Compared with nondiabetic patients, diabetic patients have at least twice the risk for stroke, earlier onset of symptoms, and worse functional outcomes. Approximately 20 % of diabetic patients will die from stroke, making it one of the leading causes of death in this population. Effective strategies for primary and secondary prevention of stroke have been developed in research cohorts that included both diabetic and nondiabetic patients. Nevertheless, prevention in diabetes has some specific considerations. In this paper, we summarize evidence to guide the diagnosis and management of stroke in diabetic patients. We propose that diabetic stroke patients should have a robust risk assessment to target interventions, like other patients with cerebrovascular disease, but with special attention to glycemic control and lifestyle modification.

  4. [Trend analysis on the death rate of ischemic heart disease and cerebrovascular disease among Xuzhou residents from 2011 to 2015].

    Science.gov (United States)

    Chen, P P; Lou, P A; Zhang, P; Qiao, C; Li, T; Dong, Z M

    2017-07-24

    Objective: To analyze the epidemiological characteristics and trend of ischemic heart disease and cerebrovascular disease mortality among Xuzhou residents from 2011 to 2015. Methods: The mortality data of the ischemic heart disease and cerebrovascular disease were obtained from the registration disease surveillance system covering the residents of the city from 2011 to 2015. Ischemic heart disease and cerebrovascular disease were identified according to the international classification of diseases (ICD-10), Ischemic heart diseases include I20 to I25 (angina pectoris, acute myocardial infarction, certain current complications following acute myocardial infarction, other acute ischemic heart diseases chronic ischemic heart disease); cerebrovascular diseases include I60 to I69 (subarachnoid hemorrhage, intracerebral hemorrhage, other non-traumatic hemorrhage, cerebral infarction, stroke not specified as hemorrhage or infarction, other cerebrovascular diseases, sequelae of cerebrovascular disease). Results: (1)From 2011 to 2015, the chronic ischemia Cardio-Cerebrovascular disease mortality of residents in Xuzhou was 261.2 per one hundred thousand (129 950/49 748 321), 269.9 per one hundred thousand(69 562/25 775 930)for male residents, 252.0 per one hundred thousand(60 388/23 972 391)for female residents, the mortality rate in men was significantly higher than that in women ( P disease mortality rate of urban residents was 243.8 per one hundred thousand(17 049/6 993 787), which was lower than the rate of rural residents (264.0 per one hundred thousand(112 901/42 754 534), P heart disease in Xuzhou city remained unchanged: 117.1 per one hundred thousand(11 416/9 747 768), 126.8 per one hundred thousand(12 177/9 600 745), 112.0 per one hundred thousand(11 184/9 986 877), 115.2 per one hundred thousand(11 697/10 151 842), 117.1 per one hundred thousand(12 019/10 261 089, P >0.05). The mortality rate of cerebrovascular disease were 154.0 per one hundred thousand(15 014

  5. The Impact of Aging on Cardio and Cerebrovascular Diseases

    Directory of Open Access Journals (Sweden)

    Carmine Izzo

    2018-02-01

    Full Text Available A growing number of evidences report that aging represents the major risk factor for the development of cardio and cerebrovascular diseases. Understanding Aging from a genetic, biochemical and physiological point of view could be helpful to design a better medical approach and to elaborate the best therapeutic strategy to adopt, without neglecting all the risk factors associated with advanced age. Of course, the better way should always be understanding risk-to-benefit ratio, maintenance of independence and reduction of symptoms. Although improvements in treatment of cardiovascular diseases in the elderly population have increased the survival rate, several studies are needed to understand the best management option to improve therapeutic outcomes. The aim of this review is to give a 360° panorama on what goes on in the fragile ecosystem of elderly, why it happens and what we can do, right now, with the tools at our disposal to slow down aging, until new discoveries on aging, cardio and cerebrovascular diseases are at hand.

  6. Clinical observation of cerebrovascular diseases current in Chernobyl accident liquidators

    International Nuclear Information System (INIS)

    Golovchenko, Yu.Yi.; Usatenko, O.G.; Romanenko, N.Yi.

    1999-01-01

    The results of the clinical follow up study (1993-1997) of cerebrovascular diseases development in the Chernobyl accident liquidators are presented. The syndrome of autonomous nervous system dysfunction following to an exposure to the Chernobyl accident consequences factors promotes to fast development of atherosclerosis and arterial hypertension. On the base of an analysis of the data obtained it was established that the primary diencephalic structures damage resulted in severe changes of different metabolic system, particularly in the cerebrovascular disorders development

  7. Clinical utility of carotid and transcranial ultrasound in cerebrovascular diseases

    Directory of Open Access Journals (Sweden)

    Figueiredo L

    2014-08-01

    Full Text Available Lívia Figueiredo, Viviane F Zétola, Marcos C Lange Neurology Division, Hospital de Clínicas, Universidade Federal do Paraná, Curitiba, Brazil Abstract: Carotid and transcranial (CTU ultrasound is a useful tool in a number of clinical settings, particularly in cerebrovascular diseases. CTU is the only method that provides real-time determination of velocity and the spectral waveform of blood flow in the extracranial and basal intracranial arteries, and is effective in the detection of stenosis and occlusion. When transcranial ultrasound is considered, CTU is the only method that allows visualization of microembolic signals in the intracranial arteries. CTU makes a rapid differential diagnosis possible, improving therapeutic decision-making in acute stroke and determining the risk of recurrence and prognosis based on its findings. It is also the standard of care in children with sickle cell disease, when selecting patients for chronic blood transfusion, and for reducing the risk of ischemic stroke in these patients. CTU has some advantages, ie, relative simplicity in terms of interpretation and performance, and affordability, noninvasiveness, and portability. The main concern with ultrasound is that it is an operator-dependent tool and requires a high level of expertise and knowledge of three-dimensional cerebrovascular anatomy for correct interpretation of sonograms. The most significant limitation of intracranial evaluation by transcranial ultrasound is the absence of a suitable bone window in approximately 10% of patients. This paper gives an overview of the current utility and importance of CTU in the prevention and evaluation of ischemic cerebrovascular disease. Keywords: transcranial Doppler ultrasonography, Doppler ultrasonography duplex, cerebrovascular disorders, stroke

  8. Digital subtraction angiography in pediatric cerebrovascular occlusive disease

    International Nuclear Information System (INIS)

    Faerber, E.N.; Griska, L.A.B.; Swartz, J.D.; Capitanio, M.A.; Popky, G.L.

    1984-01-01

    While conventional angiography has been used to demonstrate cerebrovascular occlusive disease in the past, digital subtraction angiography (DSA) is capable of showing progressive vascular involvement with ease, simplicity, and extremely low morbidity, making it particularly well suited for children and outpatients either alone or coordinated with computed tomography. The authors discuss the usefulness and advantages of DSA as demonstrated in 7 infants and children with hemiplegia, 4 of whom had sickle-cell disease

  9. Endogenous sex steroids and cardio- and cerebro-vascular disease in the postmenopausal period.

    Science.gov (United States)

    Pappa, Theodora; Alevizaki, Maria

    2012-08-01

    Cardio- and cerebro-vascular diseases are two leading causes of death and long-term disability in postmenopausal women. The acute fall of estrogen in menopause is associated with increased cardiovascular risk. The relative contribution of androgen to this risk is also being recognized. The use of more sensitive assays for estradiol measurement and the study of receptor and carrier protein gene polymorphisms have provided some new information on the clinical relevance of endogenous sex steroids. We provide an update on the role of endogenous sex steroids on cardio- and cerebro-vascular disease in the postmenopausal period. We performed a PubMed search using the terms 'endogenous estrogen', 'androgen', 'cardiovascular disease', 'cerebro-vascular disease', 'stroke', 'carotid artery disease', and 'subclinical atherosclerosis'. The majority of studies show a beneficial effect of endogenous estrogen on the vasculature; however, there are a few studies reporting the contrary. A significant body of literature has reported associations of endogenous estrogen and androgen with early markers of atherosclerosis and metabolic parameters. Data on the relevance of endogenous sex steroids in heart disease and stroke are inconclusive. Most studies support a beneficial role of endogenous estrogens and, probably, an adverse effect of androgens in the vasculature in postmenopausal women. However, the described associations may not always be considered as causal. It is possible that circulating estrogen might represent a marker of general health status or alternatively reflect the sum of endogenous androgens aromatized in the periphery. Elucidating the role of sex steroids in cardio- and cerebro-vascular disease remains an interesting field of future research.

  10. Cerebrovascular accidents in adult patients with congenital heart disease

    NARCIS (Netherlands)

    Hoffmann, A.; Chockalingam, P.; Balint, O.H.; Dadashev, A.; Dimopoulos, K.; Engel, R.; Schmid, M.; Schwerzmann, M.; Gatzoulis, M.A.; Mulder, B.J.M.; Oechslin, E.

    2010-01-01

    Objective To investigate the prevalence and characteristics of cerebrovascular accidents (CVA) in a large population of adults with congenital heart disease (CHD). Methods and results In a retrospective analysis of aggregated European and Canadian databases a total population of 23 153 patients with

  11. Association of Vegetable Nitrate Intake With Carotid Atherosclerosis and Ischemic Cerebrovascular Disease in Older Women.

    Science.gov (United States)

    Bondonno, Catherine P; Blekkenhorst, Lauren C; Prince, Richard L; Ivey, Kerry L; Lewis, Joshua R; Devine, Amanda; Woodman, Richard J; Lundberg, Jon O; Croft, Kevin D; Thompson, Peter L; Hodgson, Jonathan M

    2017-07-01

    A short-term increase in dietary nitrate (NO 3 - ) improves markers of vascular health via formation of nitric oxide and other bioactive nitrogen oxides. Whether this translates into long-term vascular disease risk reduction has yet to be examined. We investigated the association of vegetable-derived nitrate intake with common carotid artery intima-media thickness (CCA-IMT), plaque severity, and ischemic cerebrovascular disease events in elderly women (n=1226). Vegetable nitrate intake, lifestyle factors, and cardiovascular disease risk factors were determined at baseline (1998). CCA-IMT and plaque severity were measured using B-mode carotid ultrasound (2001). Complete ischemic cerebrovascular disease hospitalizations or deaths (events) over 14.5 years (15 032 person-years of follow-up) were obtained from the West Australian Data Linkage System. Higher vegetable nitrate intake was associated with a lower maximum CCA-IMT (B=-0.015, P =0.002) and lower mean CCA-IMT (B=-0.012, P =0.006). This relationship remained significant after adjustment for lifestyle and cardiovascular risk factors ( P ≤0.01). Vegetable nitrate intake was not a predictor of plaque severity. In total 186 (15%) women experienced an ischemic cerebrovascular disease event. For every 1 SD (29 mg/d) higher intake of vegetable nitrate, there was an associated 17% lower risk of 14.5-year ischemic cerebrovascular disease events in both unadjusted and fully adjusted models ( P =0.02). Independent of other risk factors, higher vegetable nitrate was associated with a lower CCA-IMT and a lower risk of an ischemic cerebrovascular disease event. © 2017 American Heart Association, Inc.

  12. The relationship between cerebrovascular disease and homocysteine, folate and vitamin B12 in serum

    International Nuclear Information System (INIS)

    Wang Wei; Yang Chen; Shi Yizhen; Liu Zengli

    2005-01-01

    To investigate the relationship between cerebrovascular disease and the serum levels of homocysteine(Hcy), folate and vitamin B 12 , the serum levels of Hcy, folate and vitamin B 12 in 148 patients with cerebrovascular disease were measured by fluorescence polarization immuno- assay and chemiluminescence and were compared with those in healthy controls. The result showed that the serum Hcy levels in patients with cerebral infarction, cerebral hemorrhage and vertebrobasilar ischemiay were significantly higher than those in healthy controls (P 12 levels were signifieantly lower (P 0.05). No significantly higher ratio of increased Hcy levels was observed in patient with complications (P> 0.05). Our conclusion is that hyperhomocysteinemia may be a new and an independent risk factor for cerebrovascular disease. The serum Hcy level is correlated with decreased levels of folate and vitamin B 12 but not obviously correlated with hypertension, diabetes and coronary heart disease. (authors)

  13. Cerebrovascular accidents in adult patients with congenital heart disease

    NARCIS (Netherlands)

    Hoffmann, A.; Chockalingam, P.; Balint, O. H.; Dadashev, A.; Dimopoulos, K.; Engel, R.; Schmid, M.; Schwerzmann, M.; Gatzoulis, M. A.; Mulder, B.; Oechslin, E.

    2010-01-01

    To investigate the prevalence and characteristics of cerebrovascular accidents (CVA) in a large population of adults with congenital heart disease (CHD). In a retrospective analysis of aggregated European and Canadian databases a total population of 23 153 patients with CHD was followed up to the

  14. Incidence of cardiovascular and cerebrovascular disease in Danish men and women with a prolonged heavy alcohol intake

    DEFF Research Database (Denmark)

    Hvidtfeldt, Ulla Arthur; Frederiksen, M.E.; Thygesen, L.C.

    2008-01-01

    significant higher incidence rates than would be expected in a standard population were observed for cardiovascular diseases (e.g., ischemic heart diseases, men: SIR = 1.76; 95% CI 1.69-1.83; women: SIR = 2.44; 95% CI 2.19-2.73) and cerebrovascular diseases (e.g., hemorrhagic stroke, men: SIR = 2.71; 95% CI 2...... rates of cardio- and cerebrovascular diseases than the population in general. METHODS: The cohort comprised 19,185 subjects (15,368 men and 3,817 women) who attended outpatient clinics for alcohol abusers within the Copenhagen Hospital Corporation (1954 to 1992). Incidence rates were standardized (SIR......) according to sex, age and calendar time to compare subjects' cardio- and cerebrovascular incidence with that of the general population of Copenhagen. RESULTS: During the period 1977 to 2001 a total of 9,397 events of cardio- and cerebrovascular disease were observed. In both men and women, statistically...

  15. Adaptive cognitive testing in cerebrovascular disease and vascular dementia

    NARCIS (Netherlands)

    Wouters, Hans; de Koning, Inge; Zwinderman, Aeilko H; van Gool, Willem A; Schmand, Ben; Buiter, Maarten; Lindeboom, Robert

    2009-01-01

    BACKGROUND/AIMS: To examine whether brevity can be combined with precision in measuring global cognitive ability in patients with cerebrovascular disease (CVD) or vascular dementia (VaD). Longer tests (e.g. the CAMCOG) are precise but inefficient, whereas brief tests (e.g. the MMSE) are efficient

  16. Elusive inheritance: Transgenerational effects and epigenetic inheritance in human environmental disease.

    Science.gov (United States)

    Martos, Suzanne N; Tang, Wan-Yee; Wang, Zhibin

    2015-07-01

    Epigenetic mechanisms involving DNA methylation, histone modification, histone variants and nucleosome positioning, and noncoding RNAs regulate cell-, tissue-, and developmental stage-specific gene expression by influencing chromatin structure and modulating interactions between proteins and DNA. Epigenetic marks are mitotically inherited in somatic cells and may be altered in response to internal and external stimuli. The idea that environment-induced epigenetic changes in mammals could be inherited through the germline, independent of genetic mechanisms, has stimulated much debate. Many experimental models have been designed to interrogate the possibility of transgenerational epigenetic inheritance and provide insight into how environmental exposures influence phenotypes over multiple generations in the absence of any apparent genetic mutation. Unexpected molecular evidence has forced us to reevaluate not only our understanding of the plasticity and heritability of epigenetic factors, but of the stability of the genome as well. Recent reviews have described the difference between transgenerational and intergenerational effects; the two major epigenetic reprogramming events in the mammalian lifecycle; these two events making transgenerational epigenetic inheritance of environment-induced perturbations rare, if at all possible, in mammals; and mechanisms of transgenerational epigenetic inheritance in non-mammalian eukaryotic organisms. This paper briefly introduces these topics and mainly focuses on (1) transgenerational phenotypes and epigenetic effects in mammals, (2) environment-induced intergenerational epigenetic effects, and (3) the inherent difficulties in establishing a role for epigenetic inheritance in human environmental disease. Copyright © 2015 Elsevier Ltd. All rights reserved.

  17. Effect of high-intensity training on endothelial function in patients with cardiovascular and cerebrovascular disease

    DEFF Research Database (Denmark)

    Kolmos, Mia; Krawcyk, Rikke Steen; Kruuse, Christina

    2016-01-01

    OBJECTIVES: Exercise improves endothelial dysfunction, the key manifestation of cardiovascular and cerebrovascular disease, and is recommended in both cardiovascular and cerebrovascular rehabilitation. Disagreement remains, however, on the role of intensity of exercise. The purpose of this review...

  18. Chronic Pancreatitis Correlates With Increased Risk of Cerebrovascular Disease: A Retrospective Population-Based Cohort Study in Taiwan.

    Science.gov (United States)

    Wong, Tuck-Siu; Liao, Kuan-Fu; Lin, Chi-Ming; Lin, Cheng-Li; Chen, Wen-Chi; Lai, Shih-Wei

    2016-04-01

    The aim of this study is to explore whether there is a relationship between chronic pancreatitis and cerebrovascular disease in Taiwan. Using the claims data of the Taiwan National Health Insurance Program, we identified 16,672 subjects aged 20 to 84 years with a new diagnosis of chronic pancreatitis from 2000 to 2010 as the chronic pancreatitis group. We randomly selected 65,877 subjects aged 20 to 84 years without chronic pancreatitis as the nonchronic pancreatitis group. Both groups were matched by sex, age, comorbidities, and the index year of diagnosing chronic pancreatitis. The incidence of cerebrovascular disease at the end of 2011 was measured. The multivariable Cox proportional hazards regression model was used to measure the hazard ratio (HR) and 95% confidence interval (CI) for cerebrovascular disease risk associated with chronic pancreatitis and other comorbidities. The overall incidence of cerebrovascular disease was 1.24-fold greater in the chronic pancreatitis group than that in the nonchronic pancreatitis group (14.2 vs. 11.5 per 1000 person-years, 95% CI = 1.19-1.30). After controlling for confounding factors, the adjusted HR of cerebrovascular disease was 1.27 (95% CI = 1.19-1.36) for the chronic pancreatitis group as compared with the nonchronic pancreatitis group. Woman (adjusted HR = 1.41, 95% CI = 1.31-1.51), age (every 1 year, HR = 1.04, 95% CI = 1.04-1.05), atrial fibrillation (adjusted HR = 1.23, 95% CI = 1.02-1.48), chronic kidney disease (adjusted HR = 1.48, 95% CI = 1.31-1.67), chronic obstructive pulmonary disease (adjusted HR = 1.27, 95% CI = 1.16-1.40), diabetes mellitus (adjusted HR = 1.82, 95% CI = 1.72-1.92), hypertension (adjusted HR = 1.66, 95% CI = 1.56-1.76), and peripheral atherosclerosis (adjusted HR = 1.26, 95% CI = 1.06-1.51) were other factors significantly associated with cerebrovascular disease. Chronic pancreatitis is associated with increased

  19. Helical CT scan for emergent patients with cerebrovascular diseases

    International Nuclear Information System (INIS)

    Matsumoto, Masato; Sato, Naoki; Nakano, Masayuki; Watanabe, Youichi; Kodama, Namio

    1995-01-01

    We studied 44 emergent patients with cerebrovascular diseases (18 cases of subarachnoid hemorrhage, 15 of occlusive lesions, 7 of intracerebral hematoma and 4 of suspected subarachnoid hemorrhage) using helical CT scan. The helical CT scan was performed with contrast medium at a rate of 3 ml/sec with a delay of 20 sec, and was carried out before conventional angiography. The reconstruction time of 3D-CTA was within 10 min. We were able to obtain findings for the lesion on 3D-CTA before those on conventional angiography. The 3D-CTA yielded excellent images of the vascular structures and anatomical relationships of the aneurysm, its neck and parent artery, and surrounding arteries. However, it proved difficult to visualize vessels of less than 1 mm in diameter, especially the perforating arteries. In occlusive diseases, the degree of stenosis depended on the changes in CT number threshold: at present, evaluations of the lesions should be made by conventional angiography. 3D-CTA using helical CT scan can thus be applied for emergent patients with cerebrovascular diseases. Surgical simulation images of 3D-CTA were especially useful at the time of operation. (author)

  20. Helical CT scan for emergent patients with cerebrovascular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Matsumoto, Masato; Sato, Naoki; Nakano, Masayuki; Watanabe, Youichi; Kodama, Namio [Fukushima Medical Coll. (Japan)

    1995-08-01

    We studied 44 emergent patients with cerebrovascular diseases (18 cases of subarachnoid hemorrhage, 15 of occlusive lesions, 7 of intracerebral hematoma and 4 of suspected subarachnoid hemorrhage) using helical CT scan. The helical CT scan was performed with contrast medium at a rate of 3 ml/sec with a delay of 20 sec, and was carried out before conventional angiography. The reconstruction time of 3D-CTA was within 10 min. We were able to obtain findings for the lesion on 3D-CTA before those on conventional angiography. The 3D-CTA yielded excellent images of the vascular structures and anatomical relationships of the aneurysm, its neck and parent artery, and surrounding arteries. However, it proved difficult to visualize vessels of less than 1 mm in diameter, especially the perforating arteries. In occlusive diseases, the degree of stenosis depended on the changes in CT number threshold: at present, evaluations of the lesions should be made by conventional angiography. 3D-CTA using helical CT scan can thus be applied for emergent patients with cerebrovascular diseases. Surgical simulation images of 3D-CTA were especially useful at the time of operation. (author).

  1. Clinical value of serum vitamin B12 and folate in cerebrovascular disease

    International Nuclear Information System (INIS)

    Zhan Hao; Zhang Yongxue

    2002-01-01

    To study the clinical value of serum vitamin B 12 and folate in cerebrovascular disease, the concentration of serum vitamin B 12 and folate in 32 patients with cerebrovascular disease was measured by radioimmunoassay. The results showed that the changes in folate in all groups were not significant. The content of vitamin B 12 in multi-infarct dementia was markedly lower than that in cerebral infarction and cerebral hemorrhage. Moreover, the level of vitamin B 12 was lower in paralytic patients with muscular strength of grade 0-III. It can be concluded that serum vitamin B 12 level had association with intelligent disorder and paralytic degree

  2. Radiation-induced cerebrovascular disease in children

    International Nuclear Information System (INIS)

    Wright, T.L.; Bresnan, M.J.

    1976-01-01

    Radiation-induced internal carotid artery occlusion has not been well recognized previously as a cause of childhood cerebrovascular disease. A child who had received radiation as a neonate for a hemangioma involving the left orbit at the age of 6 years experienced a recurrent right-sided paresis, vascular headaches, and speech difficulties. Angiography showed a hypoplastic left carotid artery with occlusion of both the anterior and middle cerebral arteries. Collateral vessels bypassed the occluded-stenotic segments. Review of the literature showed two additional cases of large vessel occlusion in childhood associated with anastomatic telangiectatic vessel development following early radiation therapy of facial hemangioma

  3. Environmentally induced epigenetic transgenerational inheritance of disease susceptibility.

    Science.gov (United States)

    Nilsson, Eric E; Skinner, Michael K

    2015-01-01

    Environmental insults, such as exposure to toxicants or nutritional abnormalities, can lead to epigenetic changes that are in turn related to increased susceptibility to disease. The focus of this review is on the transgenerational inheritance of such epigenetic abnormalities (epimutations), and how it is that these inherited epigenetic abnormalities can lead to increased disease susceptibility, even in the absence of continued environmental insult. Observations of environmental toxicant specificity and exposure-specific disease susceptibility are discussed. How epimutations are transmitted across generations and how epigenetic changes in the germline are translated into an increased disease susceptibility in the adult is reviewed with regard to disease etiology. Copyright © 2015 Elsevier Inc. All rights reserved.

  4. Abnormal Cerebrovascular Reactivity in Patients with Parkinson’s Disease

    Directory of Open Access Journals (Sweden)

    Carlos Henrique Ferreira Camargo

    2015-01-01

    Full Text Available Background. Orthostatic hypotension (OH is an important nonmotor manifestation of Parkinson’s disease (PD. Changes in cerebrovascular reactivity may contribute to this manifestation and can be monitored using transcranial Doppler. Objective. To identify possible changes in cerebrovascular reactivity in patients with OH. Methods. Twenty-two individuals were selected and divided into three groups: with and without OH and controls. Transcranial Doppler was used to assess basal mean blood flow velocity, postapnea mean blood flow velocity, percentage increase in mean blood flow velocity, and cerebrovascular reactivity as measured by the breath-holding index. Results. PD patients had lower values of basal velocity (p=0.019, postapnea velocity (p=0.0015, percentage increase in velocity (p=0.039, and breath-holding index (p=0.04 than the controls. Patients with OH had higher values of basal velocity (p=0.09 and postapnea velocity (p=0.19 but lower values of percentage increase in velocity (p=0.22 and breath-holding index (p=0.32 than patients without OH. Conclusions. PD patients present with abnormalities in a compensatory mechanism that regulates cerebral blood flow. OH could be an indicator of these abnormalities.

  5. Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal.

    Science.gov (United States)

    Perry, Luke D; Robertson, Fergus; Ganesan, Vijeya

    2013-04-01

    Microcephalic osteodysplastic primordial dwarfism type II (OMIM 210720) is a rare autosomal recessive condition frequently associated with early-onset cerebrovascular disease. Presymptomatic detection and intervention could prevent the adverse consequences associated with this. We reviewed published cases of microcephalic osteodysplastic primordial dwarfism type II to ascertain prevalence and characteristics of cerebrovascular disease and use these data to propose an evidence-based approach to cerebrovascular screening. Of 147 cases identified, 47 had cerebrovascular disease (32%), including occlusive arteriopathy (including moyamoya) and cerebral aneurysmal disease. Occlusive disease occurred in younger individuals, and progression can be both rapid and clinically silent. A reasonable screening approach would be magnetic resonance imaging and angiography of the cervical and intracranial circulation at diagnosis, repeated at yearly intervals until 10 years, and every 2 years thereafter, unless clinical concerns occur earlier. At present it would appear that this needs to be life-long. Families and professionals should be alerted to the potential significance of neurologic symptoms and measures should be taken to maintain good vascular health in affected individuals. Copyright © 2013 Elsevier Inc. All rights reserved.

  6. Coding in Stroke and Other Cerebrovascular Diseases.

    Science.gov (United States)

    Korb, Pearce J; Jones, William

    2017-02-01

    Accurate coding is critical for clinical practice and research. Ongoing changes to diagnostic and billing codes require the clinician to stay abreast of coding updates. Payment for health care services, data sets for health services research, and reporting for medical quality improvement all require accurate administrative coding. This article provides an overview of coding principles for patients with strokes and other cerebrovascular diseases and includes an illustrative case as a review of coding principles in a patient with acute stroke.

  7. Evaluation of computer tomography in cerebro-vascular disease (Strokes)

    International Nuclear Information System (INIS)

    Lee, Young Sik; Baek, Seung Yon; Rhee, Chung Sik; Kim, Hee Seup

    1984-01-01

    Most of cerebrovascular disease are composed of vascular occulusive changes and hemorrhage. Now a day, the computed tomography is the best way for evaluation of cerebrovascular disease including detection of nature, location, and associated changes. This study includes evaluation of computed tomography of 70 patients with cerebrovascular disease during the period of 10 months from April. 1983 to Feb. 1984 in Department of Radiology, Ewha Womans University Hospital. The results were as follows: 1. Age distribution of the total 70 patients was broad ranging from 25 years to 79 years. 78.6% of patients were over the age of 50. The male and female sex ratio was 1.4:1. 2. 4 out of 70 patients were normal and 66 patients revealed abnormal on C.T. findings; those were intracranial hemorrhage (28 patients), cerebral infarction (34 patients) and brain atrophy (4 patients). 3. In cases of cerebral infarction, the cerebral hemisphere was most common site of lesion (28 cases), and next was basal ganglia (2 cases). Most of the infarcts in cerebral hemisphere were located in the parietal and temporal lobes. 4. In cases of intracranial hemorrhage, the basal ganglia was most common site of lesion (15 cases). The next common site was cerebral hemisphere (9 cases). 6 patients of all intracranial hemorrhage were combined with intraventricular hemorrhage. Ratio of right and left was 2:3. 5. In patients with motor weakness or hemiparesis, more common findings on CT scan were cerebral infarction. In case with hemiplegia, more common CT findings were intracerebral hemorrhage. 6. Of the 40 cases thought to be cerebral infarction initially by clinical findings and spinal tap. 8 cases (20.0%) were proved to be cerebral hemorrhage by the CT scan. However, of the 22 cases thought to be cerebral hemorrhage, initially, only two cases (9.0%) were cerebral infarction

  8. Selective intra-arterial digital subtraction angiography (IADSA) in cerebrovascular disease

    International Nuclear Information System (INIS)

    Uchino, Akira; Satoh, Yoshiyuki; Ohno, Masato

    1987-01-01

    Selective right transbrachial intra-arterial digital subtraction angiography (transbrachial selective IADSA) was successfully performed for 24 of 26 patients with known or suspected cerebrovascular disease, four of whom were outpatients. Catheterization failed in two elderly hypertensive men because of tortuosity of their brachial arteries, and in one woman whose aberrant right subclavian artery (SCA) prevented bilateral common carotid arterial (CCA) catheterizations. No complications occurred. One-hundred and ten ''excellent'' images were obtained by means of 118 injections for the 24 patients. Iopamidol, the contrast medium, was diluted to 50 % concentration with saline, then warmed to 37 deg C. Nearly all the injections of both CCAs and right vertebral arteries (VAs) were completed using 10 ml injections and a 5 ml/sec flow rate. The mean examination time for the three-vessel study was 29.4 minutes. Transbrachial selective IADSA thus proved to be a safe, useful, and relatively easy means of diagnosing cerebrovascular disease. (author)

  9. Evaluating patients with ischemic cerebrovascular disease using positron emission tomography

    International Nuclear Information System (INIS)

    Raichle, M.E.

    1982-01-01

    Recent advances in nuclear medicine imaging techniques offer an important alternative for the evaluation of therapy for ischemic cerebrovascular disease. In particular, positron emission tomography (PET), with its capacity to provide quantitative measurements of brain blood flow, metabolism and biochemistry on a truly regional basis, now offers the opportunity to evaluate therapy in terms of specific changes in these parameters. By doing this PET permits one to study the problem on an individual patient basis with each subject serving as his own control. The author has been pursuing this approach in patients considered candidates for superficial temporal artery-middle cerebral artery anastomosis to bypass major stenotic or occlusive lesions of the internal carotid or middle cerebral artery. The results indicate that PET is of considerable value in establishing much more exactly the pathophysiology of certain forms of ischemic cerebrovascular disease and evaluating a form of therapy designed to correct the basic underlying defect. (Auth./C.F.)

  10. Cerebral blood flow measurement in cerebrovascular occlusive diseases

    International Nuclear Information System (INIS)

    Yanagihara, T.; Wahner, H.W.

    1984-01-01

    In order to evaluate cerebral blood flow (CBF) patterns among individual patients with increased statistical confidence, CBF measurements were carried out using the 133Xe-inhalation method and external head detectors. F1 values representing gray matter flow from 3 to 6 head detectors were averaged to form 16 different regions for each cerebral hemisphere. Normative values were obtained from 46 healthy volunteers, and data from individual regions were analyzed for absolute blood flow rates (ml/100g/min), for concordance between right and left hemispheres and as percent of mean hemispheric flow. CBF measurements were then carried out among 37 patients with cerebrovascular occlusive diseases, and results were compared with normative values. A high incidence of abnormal flows were detected among symptomatic patients with intracranial arterial stenosis or occlusion and those with extracranial internal carotid artery occlusion. By using the above method for data analysis, it was possible to delineate hypoperfused areas among these patients. Even though the 133Xe-inhalation method has inherent limitations, this is a practical and safe method for measurement of CBF which can provide reliable information useful for management of patients with cerebrovascular occlusive diseases, particularly when the results are presented with statistical confidence

  11. A five-year study of particulate matter (PM2.5) and cerebrovascular diseases

    International Nuclear Information System (INIS)

    Leiva G, Manuel A.; Santibañez, Daniela A.; Ibarra E, Sergio; Matus C, Patricia; Seguel, Rodrigo

    2013-01-01

    Cerebrovascular accidents, or strokes, are the second leading cause of mortality and the leading cause of morbidity in both Chile and the rest of the world. However, the relationship between particulate matter pollution and strokes is not well characterized. The association between fine particle concentration and stroke admissions was studied. Data on hospital admissions due to cerebrovascular accidents were collected from the Ministry of Health. Air quality and meteorological data were taken from the Air Quality database of the Santiago Metropolitan Area. Santiago reported 33,624 stroke admissions between January 1, 2002 and December 30, 2006. PM2.5 concentration was markedly seasonal, increasing during the winter. This study found an association between PM2.5 exposure and hospital admissions for stroke; for every PM2.5 concentration increase of 10 μg m −3 , the risk of emergency hospital admissions for cerebrovascular causes increased by 1.29% (95% CI 0.552%–2.03%). Highlights: •Particulate matter pollution – cerebrovascular diseases relationship is not well known. •Cerebrovascular diseases are the second leading cause of mortality and the leading cause of morbidity. •PM2.5 increase 10 μg/m 3 the risk of hospital admissions for stroke causes increases by 1.29%. •The results are similar to that of other cities worldwide. -- Relationship between PM pollution and strokes is not well characterized. In Santiago the risk of the stroke increased by 1.29%; for every increase of 10 μg m −3 in PM2.5

  12. Ambulatory versus home versus clinic blood pressure: the association with subclinical cerebrovascular diseases: the Ohasama Study.

    Science.gov (United States)

    Hara, Azusa; Tanaka, Kazushi; Ohkubo, Takayoshi; Kondo, Takeo; Kikuya, Masahiro; Metoki, Hirohito; Hashimoto, Takanao; Satoh, Michihiro; Inoue, Ryusuke; Asayama, Kei; Obara, Taku; Hirose, Takuo; Izumi, Shin-Ichi; Satoh, Hiroshi; Imai, Yutaka

    2012-01-01

    The usefulness of ambulatory, home, and casual/clinic blood pressure measurements to predict subclinical cerebrovascular diseases (silent cerebrovascular lesions and carotid atherosclerosis) was compared in a general population. Data on ambulatory, home, and casual/clinic blood pressures and brain MRI to detect silent cerebrovascular lesions were obtained in 1007 subjects aged ≥55 years in a general population of Ohasama, Japan. Of the 1007 subjects, 583 underwent evaluation of the extent of carotid atherosclerosis. Twenty-four-hour, daytime, and nighttime ambulatory and home blood pressure levels were closely associated with the risk of silent cerebrovascular lesions and carotid atherosclerosis (all Ppressure values were simultaneously included in the same regression model, each of the ambulatory blood pressure values remained a significant predictor of silent cerebrovascular lesions, whereas home blood pressure lost its predictive value. Of the ambulatory blood pressure values, nighttime blood pressure was the strongest predictor of silent cerebrovascular lesions. The home blood pressure value was more closely associated with the risk of carotid atherosclerosis than any of the ambulatory blood pressure values when home and one of the ambulatory blood pressure values were simultaneously included in the same regression model. The casual/clinic blood pressure value had no significant association with the risk of subclinical cerebrovascular diseases. Although the clinical indications for ambulatory blood pressure monitoring and home blood pressure measurements may overlap, the clinical significance of each method for predicting target organ damage may differ for different target organs.

  13. First translational 'Think Tank' on cerebrovascular disease, cognitive impairment and dementia

    NARCIS (Netherlands)

    Barone, F.C.; Gustafson, D.; Crystal, H.A.; Moreno, H.; Adamski, M.G.; Arai, K.; Baird, A.E.; Balucani, C.; Brickman, A.M.; Cechetto, D.; Gorelick, P.; Biessels, G.J.; Kiliaan, A.J.; Launer, L.; Schneider, J.; Sorond, F.A.; Whitmer, R.; Wright, C.; Zhang, Z.G.

    2016-01-01

    As the human population continues to age, an increasing number of people will exhibit significant deficits in cognitive function and dementia. It is now recognized that cerebrovascular, metabolic and neurodegenerative diseases all play major roles in the evolution of cognitive impairment and

  14. Impact of drinking and smoking habits on cerebrovascular disease risk among male employees.

    Science.gov (United States)

    Hatanaka, Yoko; Shimokata, Keiko; Osugi, Shigeki; Kaneko, Noriyo

    2016-10-07

    We aimed to analyze the impact of drinking and smoking behavior on the risk of developing cerebrovascular diseases among male employees aged 20-46 years. Twenty years of follow-up data of male employees enrolled in the DENSO Health Insurance Program were used for analyses. Of 29,048 male employees aged 20-46 years who were enrolled in the insurance program in 1994, 25,084 (86.4%) employees underwent annual health check-ups until 2003 without missing an appointment. Of these 25,084 employees, the data of 11,784 (40.6%) employees who self-reported drinking and smoking habits were used for analyses. The hazard ratio and 95% confidence intervals (CIs) for developing cerebrovascular disease in 2004-2013 were calculated in four risk groups categorized as per drinking and smoking behavior in the young group who were in their 20s and the middle-aged group who were in their 30s-40s in 1994. Based on their drinking behavior, participants were categorized into two groups: "not drinking or drinking sometimes" and "drinking every day." Based on their smoking behavior, participants were also categorized into two groups: "not smoking for 10 years" and "smoking for 10 years." A Cox's proportional hazard model revealed that after controlling for body mass index, systolic blood pressure, triglycerides, total cholesterol, fasting plasma glucose, and age, the hazard ratios for "smoking and drinking every day" were 3.82 (95% CI: 1.40-10.41) in the young group and 2.31 (95% CI: 1.27-4.17) in the middle-aged group. Male employees who had been drinking and smoking for 10 years had a higher risk of developing cerebrovascular diseases. To prevent cerebrovascular diseases among male employees, it may be effective to offer behavior change interventions for both drinking and smoking habits, regardless of the age group.

  15. Clinical application of dynamic digital subtraction angiography in cerebrovascular ischemic diseases

    Energy Technology Data Exchange (ETDEWEB)

    Hirata, Yoshifumi; Nonaka, Nobuhito; Matsukado, Yasuhiko; Takahashi, Mutsumasa

    1987-09-01

    Dynamic intravenous digital subtraction angiography (IV-DSA) was performed in 37 patients with cerebrovascular ischemic diseases. The time density curve of IV-DSA was analysed, and peak time, mean transit time and mode of transit time were obtained in each patient. On the basis of these values, cerebral perfusion was classified into low, normal and high perfusion patterns. Normal perfusion pattern was noted in 40% of patients with transient ischemic attack (TIA) and 7 % of patients with cerebral infarction. Low perfusion pattern was observed in 60 % of patients with TIA and 87 % of patients with cerebral infarction. High perfusion pattern was encountered only in 7 % of patients with cerebral infarction. In ischemic patients with moyamoya disease, extremely prolonged cerebral circulation time was evidenced by the presence of a flat or uphill type of the time density curve. This finding well correlated with decreased cerebral blood flow on single photon emission tomography. These findings suggest that the analysis of dynamic DSA is very important and useful in the clinical evaluation of patients with cerebrovascular ischemic diseases.

  16. Increased Prevalence of Cerebrovascular Disease in Hospitalized Patients with Ehlers-Danlos Syndrome.

    Science.gov (United States)

    Kim, Sarasa T; Cloft, Harry; Flemming, Kelly D; Kallmes, David F; Lanzino, Giuseppe; Brinjikji, Waleed

    2017-08-01

    Small studies have suggested that Ehlers-Danlos syndrome (EDS) is associated with a number of cerebrovascular complications. We sought to determine whether a clinical diagnosis of EDS is associated with a higher prevalence of cerebrovascular diseases than the general population by performing a case-control study of hospitalized patients in the Nationwide Inpatient Sample (NIS). Using the 2000-2012 NIS, we performed a case-control study matching cases of EDS to controls without such a diagnosis. The prevalence of various cerebrovascular diseases between the 2 groups was compared, and multivariate logistic regression was used to adjust for suspected comorbidities. Between 2000 and 2012, there were a total of 9067 discharges carrying a diagnosis of EDS. On univariate analysis, patients with EDS were more likely to be hospitalized for carotid dissection (.2% versus .01%, odds ratio [OR] = 18.0, confidence interval [CI] = 2.41-135.12, P < .0001), vertebral dissection (.1% versus 0%, P = .008), cervical artery aneurysm (.1% versus .01%, OR = 9.01, CI = 1.14-71.11, P < .0001), cerebral aneurysm (.4% versus .09%, OR = 4.89, CI = 2.28-10.47, P < .0001), and cerebrovascular malformation (.1% versus .02%, OR = 5, CI = 1.10-22.85, P = .021), compared to the controls. On multivariate analysis adjusted for age, race, and comorbidities, EDS patients had significantly higher odds of carotid dissection (OR = 15.02, CI = 3.08-270.87, P < .0001), vertebral dissection (OR = 2406539.5, P = .0037), cervical artery aneurysm (OR = 11.75, CI = 2.11-220.71, P = .0026), cerebral aneurysm (OR = 5.59, CI = 2.69-13.18, P < .0001), and cerebrovascular malformation (OR = 4.67, CI = 1.20-30.87, P = .0243). Carotid and vertebral dissections, cervical and cerebral aneurysms, as well as other cerebrovascular malformations are more common in hospitalized patients with EDS compared to controls

  17. Experimental Models of Inherited PrP Prion Diseases.

    Science.gov (United States)

    Watts, Joel C; Prusiner, Stanley B

    2017-11-01

    The inherited prion protein (PrP) prion disorders, which include familial Creutzfeldt-Jakob disease, Gerstmann-Sträussler-Scheinker disease, and fatal familial insomnia, constitute ∼10%-15% of all PrP prion disease cases in humans. Attempts to generate animal models of these disorders using transgenic mice expressing mutant PrP have produced variable results. Although many lines of mice develop spontaneous signs of neurological illness with accompanying prion disease-specific neuropathological changes, others do not. Furthermore, demonstrating the presence of protease-resistant PrP species and prion infectivity-two of the hallmarks of the PrP prion disorders-in the brains of spontaneously sick mice has proven particularly challenging. Here, we review the progress that has been made toward developing accurate mouse models of the inherited PrP prion disorders. Copyright © 2017 Cold Spring Harbor Laboratory Press; all rights reserved.

  18. Stress test with adenosine in cerebral perfusion imaging for the diagnosis of ischemic cerebrovascular disease

    International Nuclear Information System (INIS)

    Yuan Gengbiao; Kuang Anren; Chen Xuehong; Li Xihuan; Feng Jianzhong

    2004-01-01

    Objective: This study purpose is to evaluate cerebrovascular response and reserve capacity (CVR, CVRC) by stress test with adenosine in cerebral perfusion imaging for the diagnosis of ischemic cerebrovascular diseases. Methods There were 25 patients suffered from transient ischemia attack and 16 patients suffered from occlusive cerebral artery in this study. The rest cerebral perfusion imaging was obtained 30 minutes post-injection of 99mTC-ethylene cysteinate dimmer. After 2-5 days, adenosine stress tests were performed. Adenosine (0.14 mg/kg min) was administered intravenously 3 minutes pre-injection of 99mTC-ECD.Under same condition, the rest and stress tests of cerebral perfusion imaging were performed. By visual and semiquantitative analysis, the results of the rest/stress imaging were divided into the following four patterns: A: The stress imaging showed an expand areas of hypoperfusion, asymmetry index (AI) was decreased; B: Rest imaging was normal but new hypoperfused areas appeared with AI index declining in stress test; C: The hypoperfused areas were decreased or disappeared in size with AI index increasing in stress test; D: No changes showed in cerebral perfusion imaging patterns and Al index between rest and stress tests. AI index was ratio of radio account of interest regions than average radio account of cerebella. Results It was found that A, B, C and D type were 24%,12%,56% and 8% respectively in the group of transient ischemia attack patients, and 31%,44%, 19% and 6% respectively in the group of occlusive cerebrovascular patients. In rest test, of 41 patients of cerebrovascular disease, there were 28 cases decreased of radio uptake, moreover in stress test, there were 38 case decreased of radio uptake, positive rate were 68.29% and 92.68% respectively. Compared to X±SD of AI index of rest/stress test, it is found to increasing and being significant statistics (p<0.01, Spass 8.0 statistics software). Conclusion: Adenosinal-induced vasodilatation

  19. Correlation between serum fructosamine and hyperglycemia in patients with acute cerebrovascular disease

    Institute of Scientific and Technical Information of China (English)

    Kaiqiu Chu; Pengpeng Liu; Lijuan Tan; Shuhua Zhou; Lisheng Ren

    2006-01-01

    BACKGROUND: Diabetes mellitus is one of the risk factors in patients with acute cerebral disease, and always leads to stroke or get it worse. There is often a high level of blood glucose in those patients with diabetes mellitus and cerebral disease, but it is hard to distinguish from both kinds of hyperglycemia. Serum fructosamine is said to be correlated with blood glucose.OBJECTIVE: To explore the relationship between serum fructosamine and blood glucose in patients with acute cerebrovascular disease.DESTGN: A case-controlled study.SETTINGS: Department of Clinical Laboratory, Health Department for Cadres and Department of Neurology of Affiliated Hospital, Qingdao University Medical College.PARTICIPANTS: Forty-eight inpatients and outpatients with cerebrovascular diseases were selected from the Department of Neurology, Affiliated Hospital of Qingdao University Medical College from December 2004 to April 2005. All the patients were confirmed with CT and MRI. There were 25 patients with diabetes mellitus secondary cerebrovascular diseases, who met the diagnostic standards of diabetes mellitus set by WHO,including 12 males and 13 females with an average of (60±8) years old, the course of diabetes mellitus ranged from 1 to 21 years.. The other 23 patients had no diabetes mellitus (without diabetes mellitus group), including 14 males and 9 females with an average of (62±6) years old. Meanwhile, another 50 healthy physical examinees in the hospital were selected as control group, including 26 males and 24 females with the average age of (62±5) years old. Informed content was obtained from all the participants.METHODS: Venous blood was drawn from all the participants, and content of blood glucose was assayed by means of glucose oxidase, and the concentration of serum fructosamine was determined by nitroblue tetrazolium colorimetric method. Comparison between groups was performed by the analysis of variance and q test, and the correlation was tested by linear

  20. [Preimplantation genetic diagnosis and monogenic inherited eye diseases].

    Science.gov (United States)

    Hlavatá, L; Ďuďáková, Ľ; Trková, M; Soldátová, I; Skalická, P; Kousal, B; Lišková, P

    Preimplantation genetic diagnosis (PGD) is an established application of genetic testing in the context of in vitro fertilization. PGD is an alternative method to prenatal diagnosis which aims to prevent the transmission of an inherited disorder to the progeny by implanting only embryos that do not carry genetic predisposition for a particular disease. The aim of this study is to provide an overview of eye disorders for which PGD has been carried out. The European literature search focused on best practices, ethical issues, risks and results of PGD for inherited eye disorders. PGD is performed for a number of ocular disorders; a prerequisite for its application is however, the knowledge of a disease-causing mutation(s). The main advantage of this method is that the couple is not exposed to a decision of whether or not to undergo an abortion. Qualified counselling must be provided prior to the PGD in order to completely understand the risk of disability in any child conceived, consequences of disease manifestation, and advantages as well as limitations of this method. In the group of non-syndromic eye diseases and diseases in which ocular findings dominate, PGD has been performed in European countries for aniridia, choroideremia, congenital fibrosis of extraocular muscles, Leber congenital amaurosis, ocular albinism, retinitis pigmentosa, X-linked retinoschisis, Stargardt disease, blepharophimosis-ptosis-inverse epicanthus syndrome and retinoblastoma. Sexing for X-linked or mitochondrial diseases has been carried out for blue cone monochromatism, choroideremia, familial exudative vitreoretinopathy, Leber hereditary optic neuropathy, macular dystrophy (not further specified), Norrie disease, X-linked congenital stationary night blindness, X-linked retinoschisis and nystagmus (not further specified). In recent years, there has been an increase in potential to use PGD. The spectrum of diseases for this method has widened to include severe inherited eye diseases

  1. Tomography methods for diagnostic examination of cerebrovascular disease: a comparative evaluation of SPECT, PET and MR/CT findings

    International Nuclear Information System (INIS)

    Reiche, W.; Kaiser, H.J.; Weiller, C.; Altehoefer, C.; Buell, U.; Isensee, C.

    1991-01-01

    Single Photon Emissions Computerized Tomography (SPECT), Positron Emissions Tomography (PET), Magnetic Resonance Tomography (MR), and Transmission Computerized Tomography (CT) complement each other and lead to a consideration of the cerebrovascular disease under patho-physiological aspects. Indications for the combined application of functionally oriented (SPECT/PET) and morphologically oriented (CT/MR) examination methods with cerebrovascular disease are presented. (orig./MG) [de

  2. Is outdoor work associated with elevated rates of cerebrovascular disease mortality? A cohort study based on iron-ore mining.

    Science.gov (United States)

    Björ, Ove; Jonsson, Håkan; Damber, Lena; Burström, Lage; Nilsson, Tohr

    2016-01-01

    A cohort study that examined iron ore mining found negative associations between cumulative working time employed underground and several outcomes, including mortality of cerebrovascular diseases. In this cohort study, and using the same group of miners, we examined whether work in an outdoor environment could explain elevated cerebrovascular disease rates. This study was based on a Swedish iron ore mining cohort consisting of 13,000 workers. Poisson regression models were used to generate smoothed estimates of standardized mortality ratios and adjusted rate ratios, both models by cumulative exposure time in outdoor work. The adjusted rate ratio between employment classified as outdoor work ≥25 years and outdoor work 0-4 years was 1.62 (95 % CI 1.07-2.42). The subgroup underground work ≥15 years deviated most in occurrence of cerebrovascular disease mortality compared with the external reference population: SMR (0.70 (95 % CI 0.56-0.85)). Employment in outdoor environments was associated with elevated rates of cerebrovascular disease mortality. In contrast, work in tempered underground employment was associated with a protecting effect.

  3. Rare inherited kidney diseases: challenges, opportunities, and perspectives.

    NARCIS (Netherlands)

    Devuyst, O.; Knoers, N.V.A.M.; Remuzzi, G.; Schaefer, F.; Bindels, R.J.; et al.,

    2014-01-01

    At least 10% of adults and nearly all children who receive renal-replacement therapy have an inherited kidney disease. These patients rarely die when their disease progresses and can remain alive for many years because of advances in organ-replacement therapy. However, these disorders substantially

  4. Blood pressure, risk of ischemic cerebrovascular and ischemic heart disease, and longevity in alpha(1)-antitrypsin deficiency

    DEFF Research Database (Denmark)

    Dahl, Morten; Tybjaerg-Hansen, Anne; Sillesen, Henrik

    2003-01-01

    Because elastase in alpha(1)-antitrypsin deficiency may attack elastin in the arterial wall, we tested whether alpha(1)-antitrypsin deficiency is associated with reduced blood pressure, risk of ischemic cerebrovascular (ICVD) and ischemic heart disease (IHD), and longevity.......Because elastase in alpha(1)-antitrypsin deficiency may attack elastin in the arterial wall, we tested whether alpha(1)-antitrypsin deficiency is associated with reduced blood pressure, risk of ischemic cerebrovascular (ICVD) and ischemic heart disease (IHD), and longevity....

  5. Postmenopausal hormone therapy and subclinical cerebrovascular disease

    Science.gov (United States)

    Coker, L H.; Hogan, P E.; Bryan, N R.; Kuller, L H.; Margolis, K L.; Bettermann, K; Wallace, R B.; Lao, Z; Freeman, R; Stefanick, M L.; Shumaker, S A.

    2009-01-01

    Objective: The Women's Health Initiative Memory Study (WHIMS) hormone therapy (HT) trials reported that conjugated equine estrogen (CEE) with or without medroxyprogesterone acetate (MPA) increases risk for all-cause dementia and global cognitive decline. WHIMS MRI measured subclinical cerebrovascular disease as a possible mechanism to explain cognitive decline reported in WHIMS. Methods: We contacted 2,345 women at 14 WHIMS sites; scans were completed on 1,424 (61%) and 1,403 were accepted for analysis. The primary outcome measure was total ischemic lesion volume on brain MRI. Mean duration of on-trial HT or placebo was 4 (CEE+MPA) or 5.6 years (CEE-Alone) and scans were conducted an average of 3 (CEE+MPA) or 1.4 years (CEE-Alone) post-trial termination. Cross-sectional analysis of MRI lesions was conducted; general linear models were fitted to assess treatment group differences using analysis of covariance. A (two-tailed) critical value of α = 0.05 was used. Results: In women evenly matched within trials at baseline, increased lesion volumes were significantly related to age, smoking, history of cardiovascular disease, hypertension, lower post-trial global cognition scores, and increased incident cases of on- or post-trial mild cognitive impairment or probable dementia. Mean ischemic lesion volumes were slightly larger for the CEE+MPA group vs placebo, except for the basal ganglia, but the differences were not significant. Women assigned to CEE-Alone had similar mean ischemic lesion volumes compared to placebo. Conclusions: Conjugated equine estrogen–based hormone therapy was not associated with a significant increase in ischemic brain lesion volume relative to placebo. This finding was consistent within each trial and in pooled analyses across trials. GLOSSARY 3MSE = modified Mini-Mental State Examination; BMI = body mass index; CEE = conjugated equine estrogen; CVD = cerebrovascular disease; HT = hormone therapy; MCI = mild cognitive impairment; MPA

  6. Research on the influence factors of the fall efficiency of the hospitalized geriatric patients with cerebrovascular diseases.

    Science.gov (United States)

    Li, Weili; Cheng, Ruilian

    2016-11-01

    To investigate the fall efficiency and its influence factors of the hospitalized geriatric patients with cerebrovascular diseases. The Modified Fall Efficacy Scale (MFES), Morse Fall Risk Assessment Scales (MFS), Berg Balance Scale (BBS) and Tinetti Gait Analysis (TGA) were adopted and the combined ways of questionnaires and observation were utilized to investigate the 113 hospitalized geriatric patients with cerebrovascular diseases. The fall efficiency of the geriatric patients with cerebrovascular diseases were 7.85±2.57 scores. The two projects "walking up and down stairs" and "taking public transport means" have got the lowest scores; The two projects "stretching out the hand to the box or the drawer for taking something" and "sitting up and down to the chair" have got the highest scores. It was found that there were three factors which had significant influences on the fall efficiency, they were myodynamia of the right upper extremity, Berg balance functions and gait. For the sake of helping the geriatric patients with cerebrovascular diseases to establish the self-confidence of preventing the falls, the medical workers need to take further psychological counseling for the patients and befittingly and specifically to improve the fall efficiency of patients so as to effectively prevent the occurring of the fall on the basis of improving the balance ability and gait of patients.

  7. Association between Smokefree Legislation and Hospitalizations for Cardiac, Cerebrovascular and Respiratory Diseases: A Meta-Analysis

    Science.gov (United States)

    Tan, Crystal E.; Glantz, Stanton A.

    2012-01-01

    Background Secondhand smoke causes cardiovascular and respiratory disease. Smokefree legislation is associated with a lower risk of hospitalization and death from these diseases. Methods and Results Random effects meta-analysis was conducted by law comprehensiveness to determine the relationship between smokefree legislation and hospital admission or death from cardiac, cerebrovascular, and respiratory diseases. Studies were identified using a systematic search for studies published before November 30, 2011 using Science Citation Index, Google Scholar, PubMed, and Embase and references in identified papers. Change in hospital admissions (or deaths) in the presence of a smokefree law, duration of follow-up, and law comprehensiveness (workplaces only; workplaces and restaurants; or workplaces, restaurants, and bars) were recorded. Forty-five studies of 33 smokefree laws with median follow-up of 24 months (range 2–57 months) were included. Comprehensive smokefree legislation was associated with significantly lower rates of hospital admissions (or deaths) for all 4 diagnostic groups: coronary events (RR .848, 95% CI .816–.881), other heart disease (RR .610, 95% CI .440–.847), cerebrovascular accidents (RR .840, 95% CI .753–.936), and respiratory disease (RR .760, 95% CI .682–.846). The difference in risk following comprehensive smokefree laws does not change with longer follow-up. More comprehensive laws were associated with larger changes in risk. Conclusions Smokefree legislation was associated with a lower risk of smoking-related cardiac, cerebrovascular, and respiratory diseases, with more comprehensive laws associated with greater changes in risk. PMID:23109514

  8. Neurological signs in relation to type of cerebrovascular disease in vascular dementia

    NARCIS (Netherlands)

    Staekenborg, S.S.; van der Flier, W.M.; van Straaten, E.C.W.; Lane, R.; Barkhof, F.; Scheltens, P.

    2008-01-01

    BACKGROUND AND PURPOSE - The aim of this study was to describe the prevalence of a number of neurological signs in a large population of patients with vascular dementia (VaD) and to compare the relative frequency of specific neurological signs dependent on type of cerebrovascular disease. METHODS -

  9. Serum homocysteine levels in cerebrovascular accidents

    OpenAIRE

    Zongte, Zolianthanga; Shaini, L.; Debbarma, Asis; Singh, Th Bhimo; Devi, S. Bilasini; Singh, W. Gyaneshwar

    2008-01-01

    Hyperhomocysteinemia has been considered an independent risk factor in the development of stroke. The present study was undertaken to evaluate serum homocysteine levels in patients with cerebrovascular accidents among the Manipuri population and to compare with the normal cases. Ninety-three cerebrovascular accident cases admitted in the hospital were enrolled for the study and twenty-seven age and sex matched individuals free from cerebrovascular diseases were taken as control group. Serum h...

  10. Serum homocysteine levels in cerebrovascular accidents.

    Science.gov (United States)

    Zongte, Zolianthanga; Shaini, L; Debbarma, Asis; Singh, Th Bhimo; Devi, S Bilasini; Singh, W Gyaneshwar

    2008-04-01

    Hyperhomocysteinemia has been considered an independent risk factor in the development of stroke. The present study was undertaken to evaluate serum homocysteine levels in patients with cerebrovascular accidents among the Manipuri population and to compare with the normal cases. Ninety-three cerebrovascular accident cases admitted in the hospital were enrolled for the study and twenty-seven age and sex matched individuals free from cerebrovascular diseases were taken as control group. Serum homocysteine levels were estimated by ELISA method using Axis homocysteine EIA kit manufactured by Ranbaxy Diagnostic Ltd. India. The finding suggests that hyperhomocysteinemia is associated with cerebrovascular accident with male preponderance, which increases with advancing age. However, whether hyperhomocysteinemia is the cause or the result of cerebrovascular accidents needs further investigations.

  11. Cerebrovascular-Reactivity Mapping Using MRI: Considerations for Alzheimer’s Disease

    Directory of Open Access Journals (Sweden)

    J. J. Chen

    2018-06-01

    Full Text Available Alzheimer’s disease (AD is associated with well-established macrostructural and cellular markers, including localized brain atrophy and deposition of amyloid. However, there is growing recognition of the link between cerebrovascular dysfunction and AD, supported by continuous experimental evidence in the animal and human literature. As a result, neuroimaging studies of AD are increasingly aiming to incorporate vascular measures, exemplified by measures of cerebrovascular reactivity (CVR. CVR is a measure that is rooted in clinical practice, and as non-invasive CVR-mapping techniques become more widely available, routine CVR mapping may open up new avenues of investigation into the development of AD. This review focuses on the use of MRI to map CVR, paying specific attention to recent developments in MRI methodology and on the emerging stimulus-free approaches to CVR mapping. It also summarizes the biological basis for the vascular contribution to AD, and provides critical perspective on the choice of CVR-mapping techniques amongst frail populations.

  12. Data-driven models of dominantly-inherited Alzheimer's disease progression.

    Science.gov (United States)

    Oxtoby, Neil P; Young, Alexandra L; Cash, David M; Benzinger, Tammie L S; Fagan, Anne M; Morris, John C; Bateman, Randall J; Fox, Nick C; Schott, Jonathan M; Alexander, Daniel C

    2018-03-22

    Dominantly-inherited Alzheimer's disease is widely hoped to hold the key to developing interventions for sporadic late onset Alzheimer's disease. We use emerging techniques in generative data-driven disease progression modelling to characterize dominantly-inherited Alzheimer's disease progression with unprecedented resolution, and without relying upon familial estimates of years until symptom onset. We retrospectively analysed biomarker data from the sixth data freeze of the Dominantly Inherited Alzheimer Network observational study, including measures of amyloid proteins and neurofibrillary tangles in the brain, regional brain volumes and cortical thicknesses, brain glucose hypometabolism, and cognitive performance from the Mini-Mental State Examination (all adjusted for age, years of education, sex, and head size, as appropriate). Data included 338 participants with known mutation status (211 mutation carriers in three subtypes: 163 PSEN1, 17 PSEN2, and 31 APP) and a baseline visit (age 19-66; up to four visits each, 1.1 ± 1.9 years in duration; spanning 30 years before, to 21 years after, parental age of symptom onset). We used an event-based model to estimate sequences of biomarker changes from baseline data across disease subtypes (mutation groups), and a differential equation model to estimate biomarker trajectories from longitudinal data (up to 66 mutation carriers, all subtypes combined). The two models concur that biomarker abnormality proceeds as follows: amyloid deposition in cortical then subcortical regions (∼24 ± 11 years before onset); phosphorylated tau (17 ± 8 years), tau and amyloid-β changes in cerebrospinal fluid; neurodegeneration first in the putamen and nucleus accumbens (up to 6 ± 2 years); then cognitive decline (7 ± 6 years), cerebral hypometabolism (4 ± 4 years), and further regional neurodegeneration. Our models predicted symptom onset more accurately than predictions that used familial estimates: root mean squared error of 1

  13. Trends in Mortality from Cerebrovascular and Hypertensive Diseases in Brazil Between 1980 and 2012

    Directory of Open Access Journals (Sweden)

    Paolo Blanco Villela

    2016-01-01

    Full Text Available Abstract Background: Cerebrovascular and hypertensive diseases are among the main causes of death worldwide. However, there are limited data about the trends of these diseases over the years. Objective: To evaluate the temporal trends in mortality rates and proportional mortality from cerebrovascular and hypertensive diseases according to sex and age in Brazil between 1980 and 2012. Methods: We evaluated the underlying causes of death between 1980 and 2012 in both sexes and by age groups for circulatory diseases (CD, cerebrovascular diseases (CBVD, and hypertensive diseases (HD. We also evaluated death due to all causes (AC, external causes (EC, and ill-defined causes of death (IDCD. Data on deaths and population were obtained from the Department of Information Technology of the Unified Health System (Departamento de Informática do Sistema Único de Saúde, DATASUS/MS. We estimated crude and standardized annual mortality rates per 100,000 inhabitants and percentages of proportional mortality rates. Results: With the exception of EC, the mortality rates per 100,000 inhabitants of all other diseases increased with age. The proportional mortality of CD, CBVD, and HD increased up to the age range of 60-69 years in men and 70-79 years in women, and reached a plateau in both sexes after that. The standardized rates of CD and CBVD declined in both sexes. However, the HD rates showed the opposite trend and increased mildly during the study period. Conclusion: Despite the decline in standardized mortality rates due to CD and CBVD, there was an increase in deaths due to HD, which could be related to factors associated with the completion of the death certificates, decline in IDCD rates, and increase in the prevalence of hypertension.

  14. The influence of general anesthesia on the brain in aged patients with previous ischemic cerebrovascular disease

    International Nuclear Information System (INIS)

    Kokubo, Yasuaki; Kayama, Takamasa; Kondo, Rei; Oki, Masato; Takaoka, Seiji

    2008-01-01

    Whenever we discuss the overall results of surgical treatment for unruptured cerebral aneurysms, especially in aged patients, we tend to consider advanced age or general anesthesia as causes for unfavorable results. There are no reports concerning ischemic stroke events following general anesthesia in aged patients with a prior history of cerebrovascular disease. The purpose of this study is to clarify the influence of general anesthesia on the brats in aged patients with a previous history of ischemic cerebrovascular disease. The subjects were 30 consecutive patients over 70 years of age with previous ischemic cerebrovascular disease who underwent various surgeries except brain and cardiac surgery under general anesthesia. The patients were 70 to 85 years old, with a mean age of 76. Twenty-three were men and 7 were women. Surgical procedures were 12 gastrointestinal, 6 orthopedic and 4 urogenital and others. The type of cerebrovascular disease evaluated by neuroradiologist and anesthesiologist based on MR imaging was devided as follows: 16 patients had minor stroke, 7 had transient ischemic attack/reversible ischemic neurological deficit (TIA/RIND) and 7 had asymptomatic cerebral infarction. MR angiography was also assessed to evaluate the main artery in the brain. Blood pressure and arterial blood gas (PaCO 2 ) during general anesthesia were analyzed, and the rate of systemic and neurological complications following general anesthesia were evaluated. MR angiography revealed no occlusion or severe stenosis of the main artery in the brain of any of the patients. The minimum systolic blood pressure showed less than 100 mmHg transiently for 5-20 minutes in 28 of 30 patients during general anesthesia. The minimum value was 65 mmHg maintained for 5 minutes. The minimum PaCO 2 during general anesthesia was as follows: 1 case 36 mmHg. There were no neurological complications following general anesthesia in this study. One of 30 patients (3.3%) had suffered from pneumonia

  15. Genetic testing and counselling in inherited eye disease

    DEFF Research Database (Denmark)

    Brøndum-Nielsen, Karen; Jensen, Hanne; Timshel, Susanne

    2013-01-01

    Advances in genetics have made genetic testing in patients with inherited eye disease increasingly accessible, and the initiation of clinical intervention trials makes it increasingly clinically relevant. Based on a multidisciplinary collaboration between ophthalmologists and clinical geneticists...

  16. Is outdoor work associated with elevated rates of cerebrovascular disease mortality? : a cohort study based on iron-ore mining

    OpenAIRE

    Björ, Ove; Jonsson, Håkan; Damber, Lena; Burström, Lage; Nilsson, Tohr

    2016-01-01

    BACKGROUND: A cohort study that examined iron ore mining found negative associations between cumulative working time employed underground and several outcomes, including mortality of cerebrovascular diseases. In this cohort study, and using the same group of miners, we examined whether work in an outdoor environment could explain elevated cerebrovascular disease rates. METHODS: This study was based on a Swedish iron ore mining cohort consisting of 13,000 workers. Poisson regression models wer...

  17. PET in cerebrovascular disease; PET bei zerebrovaskulaeren Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Herholz, K. [Neurologische Universitaetsklinik der Univ. Koeln (Germany)]|[Max-Planck-Institut fuer Neurologische Forschung, Koeln (Germany)

    1997-03-01

    Tissue viability is of particular interest in acute cerebral ischemia because it may be preserved if reperfusion can be achieved rapidly, e.g. by acute thrombolysis. Measurements of regional cerebral blood flow (CBF) and oxygen consumption by PET can assess tissue viability, and they have substantially increased our knowledge of th pathophysiology of ischemic stroke and the associated penumbra. Widerspread clinical application in acute stroke, however, is unlikely because of the large logistic and personnel resources required. In chronic cerebrovascular disease, measurement of regional CBF and glucose metabolism, which is usually coupled, provide detailed insights in disturbance of cortical function, e.g. due to deafferentiation, and contribute to differentiation of dementia types. Chronic misery perfusion, i.e. reduced perfusion that does not match the metabolic demand of the tissue, can be demonstrated by PET. It may be found in some patients with high-grade arterial stenoses. Less severe impairment of brain perfusion can be demonstrated by measurement of the cerebrovascular reserve capacity. The most frequent clinical situations can be assessed by less demanding procedures, e.g. by SPECT. In conclusion, PET has its role in cerebrovascular disease primarily within scientific studies, where high resolution and absolute quantitation of physiological variables are essential. (orig.). 65 refs. [Deutsch] Beim akuten ischaemischen Insult ist die Vitalitaet des Gewebes von besonderem Interesse, da sie durch rasche Reperfusion, z.B. durch Thrombolyse, erhalten bleiben kann. Messungen der zerebralen Durchblutung und des Sauerstoffumsatzes mittels PET geben darueber wesentliche Aufschluesse, und sie sind wichtig fuer das Verstaendnis der Pathophysiologie ischaemischer Infarkte und der Penumbra mit kritischer Perfusion beim Menschen. Ihre breitere Anwendung in der klinischen Patientenversorgung kommt allerdings wegen des hohen Aufwandes derzeit kaum in Betracht. Bei

  18. Vascular care in patients with Alzheimer's disease with cerebrovascular lesions-a randomized clinical trial

    NARCIS (Netherlands)

    Richard, Edo; Kuiper, Roy; Dijkgraaf, Marcel G. W.; van Gool, Willem A.

    2009-01-01

    OBJECTIVES: To investigate whether vascular care slows dementia progression in patients with Alzheimer's disease with cerebrovascular lesions on neuroimaging. DESIGN: Multicenter randomized controlled clinical trial with 2-year follow-up. SETTING: Neurological and geriatric outpatient clinics in 10

  19. Pioglitazone improves reversal learning and exerts mixed cerebrovascular effects in a mouse model of Alzheimer's disease with combined amyloid-β and cerebrovascular pathology.

    Directory of Open Access Journals (Sweden)

    Panayiota Papadopoulos

    Full Text Available Animal models of Alzheimer's disease (AD are invaluable in dissecting the pathogenic mechanisms and assessing the efficacy of potential new therapies. Here, we used the peroxisome proliferator-activated receptor gamma agonist pioglitazone in an attempt to rescue the pathogenic phenotype in adult (12 months and aged (>18 months bitransgenic A/T mice that overexpress a mutated human amyloid precursor protein (APPSwe,Ind and a constitutively active form of transforming growth factor-β1 (TGF-β1. A/T mice recapitulate the AD-related cognitive deficits, amyloid beta (Aβ and cerebrovascular pathologies, as well as the altered metabolic and vascular coupling responses to increased neuronal activity. Pioglitazone normalized neurometabolic and neurovascular coupling responses to sensory stimulation, and reduced cortical astroglial and hippocampal microglial activation in both age groups. Spatial learning and memory deficits in the Morris water maze were not rescued by pioglitazone, but reversal learning was improved in the adult cohort notwithstanding a progressing Aβ pathology. While pioglitazone preserved the constitutive nitric oxide synthesis in the vessel wall, it unexpectedly failed to restore cerebrovascular reactivity in A/T mice and even exacerbated the dilatory deficits. These data demonstrate pioglitazone's efficacy on selective AD hallmarks in a complex AD mouse model of comorbid amyloidosis and cerebrovascular pathology. They further suggest a potential benefit of pioglitazone in managing neuroinflammation, cerebral perfusion and glucose metabolism in AD patients devoid of cerebrovascular pathology.

  20. Inherited Retinal Degenerative Disease Clinical Trial Network. Addendum

    Science.gov (United States)

    2010-10-01

    Stargardt disease, and Usher syndrome represent the predominant forms of inherited orphan retinal degenerative diseases and are estimated to affect...working with Oxford Biomedica and a separate project with academic investigators on gene therapy for Usher lb syndrome (deaf-blindness due to a gene...s. The NEER Network will also develop standard protocols for data collection, mainta i n and expand patient databases, classified by genotype and

  1. Increased Prevalence of Cerebrovascular Disease in Hospitalized Patients with Marfan Syndrome.

    Science.gov (United States)

    Kim, Sarasa T; Cloft, Harry; Flemming, Kelly D; Kallmes, David F; Lanzino, Giuseppe; Brinjikji, Waleed

    2018-02-01

    Small studies have suggested that Marfan syndrome is associated with a number of cerebrovascular complications. We sought to determine whether a clinical diagnosis of Marfan syndrome is associated with a higher prevalence of cerebrovascular diseases than the general population by performing a case-control study of hospitalized patients in the Nationwide Inpatient Sample (NIS). Using the 2000-2012 NIS, we performed a case-control study matching cases of Marfan syndrome to controls without such a diagnosis. The prevalence of various cerebrovascular diseases between the 2 groups were compared, and multivariate logistic regression was used to adjust for suspected comorbidities. Between 2000 and 2012, there were a total of 13,883 discharges carrying a diagnosis of Marfan syndrome. On univariate analysis, patients with Marfan syndrome were more likely to have a primary or secondary diagnosis of hemorrhagic stroke (0.5% versus 0.3%, odds ratio [OR] = 1.56, 95% confidence interval [CI] = 1.06-2.29, P = 0.02) as well as intracranial hemorrhage (subarachnoid hemorrhage [SAH] and hemorrhagic stroke) (0.3% versus 0.2%, OR = 1.72, 95% CI = 1.05-2.82, P = 0.03). Patients hospitalized with Marfan syndrome were significantly more likely to have carotid dissection (0.3% versus 0.0%, OR = 11.69, 95% CI = 3.60-38.08, P Marfan syndrome had significantly higher odds of ischemic stroke (OR = 1.20, 95% CI = 1.02-1.43, P = 0.03), hemorrhagic stroke (OR = 1.75, 95% CI = 1.18-2.63, P = 0.005), carotid artery dissection (OR = 11.94, 95% CI = 4.23-50.03, P Marfan syndrome when compared with controls. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  2. La enfermedad cerebrovascular en pacientes desde 29 días a 18 años de edad Cerebrovascular disease in patients from 29 days born to 18 years old

    Directory of Open Access Journals (Sweden)

    Nadia Arteche Díaz

    2012-12-01

    Full Text Available Introducción: la enfermedad cerebrovascular, tanto en adultos como en los niños, en los últimos años ha constituido un problema de gran interés para la comunidad médica y científica nacional e internacional. Objetivo: caracterizar la enfermedad cerebrovascular en pacientes desde 29 días de nacido hasta 18 años de edad. Material y método: se realizó una investigación descriptiva y retroprospectiva de los pacientes atendidos en la Unidad de Cuidados Intensivos del Hospital Pedriático Docente "Pepe Portilla" en Pinar del Río, en el período comprendido de julio de 2005 a junio de 2011. La muestra estuvo consituida por 20 pacientes desde 29 de días de nacidos hasta 18 años de edad. Se revisaron las historias clínicas y se realizó una encuesta. Resultados: la tasa de incidencia anual más alta fue de 2,7 por 100 000 habitantes; el grupo de edad de mayor incidencia fue el de 5 a 14 años (2,2 por 100 000 habitantes; el diagnóstico más frecuente fue la hemorragia intracraneal (65 %; la evolución de los pacientes fue favorable con el tratamiento adecuado y solo cinco pacientes fallecieron debido a la enfermedad cerebrovascular (letalidad=25 % y se realizó tratamiento quirúrgico en un paciente con aneurisma de la carótida interna derecha, presentando evolución favorable sin secuelas neurológicas. Conclusiones: el tratamiento de los pacientes pediátricos con enfermedad cerebrovascular en la provincia de Pinar del Río, requiere de la aplicación de un programa de diagnóstico y manejo integral personalizado para permitir una evolución favorable, mejorando la calidad de vida del paciente.Introduction: cerebrovascular disease, both in adults and children, has constituted a problem of interest to the medical, national and international scientific community during last years. Objective: to characterize cerebrovascular disease in patients from 29 days born to 18 years old. Material and Method: a descriptive and retrospective

  3. Anton's syndrome due to cerebrovascular disease: a case report

    Directory of Open Access Journals (Sweden)

    Maddula Mohana

    2009-09-01

    Full Text Available Abstract Introduction Anton's syndrome describes the condition in which patients deny their blindness despite objective evidence of visual loss, and moreover confabulate to support their stance. It is a rare extension of cortical blindness in which, in addition to the injury to the occipital cortex, other cortical centres are also affected, with patients typically behaving as if they were sighted. Case presentation We present a case report of an 83-year-old white woman with cortical blindness as a result of bilateral occipital lobe infarcts. Despite her obvious blindness, illustrated by her walking into objects, the patient expressed denial of visual loss and demonstrated confabulation in her accounts of her surroundings, consistent with a diagnosis of Anton's syndrome. Conclusions A suspicion of cortical blindness and Anton's syndrome should be considered in patients with atypical visual loss and evidence of occipital lobe injury. Cerebrovascular disease is the most common cause of Anton's syndrome, as in our patient. However, any condition that may result in cortical blindness can potentially lead to Anton's syndrome. Recovery of visual function will depend on the underlying aetiology, with cases due to occipital lobe infarction after cerebrovascular events being less likely to result in complete recovery. Management in these circumstances should accordingly focus on secondary prevention and rehabilitation.

  4. Dioxin (TCDD induces epigenetic transgenerational inheritance of adult onset disease and sperm epimutations.

    Directory of Open Access Journals (Sweden)

    Mohan Manikkam

    Full Text Available Environmental compounds can promote epigenetic transgenerational inheritance of adult-onset disease in subsequent generations following ancestral exposure during fetal gonadal sex determination. The current study examined the ability of dioxin (2,3,7,8-tetrachlorodibenzo[p]dioxin, TCDD to promote epigenetic transgenerational inheritance of disease and DNA methylation epimutations in sperm. Gestating F0 generation females were exposed to dioxin during fetal day 8 to 14 and adult-onset disease was evaluated in F1 and F3 generation rats. The incidences of total disease and multiple disease increased in F1 and F3 generations. Prostate disease, ovarian primordial follicle loss and polycystic ovary disease were increased in F1 generation dioxin lineage. Kidney disease in males, pubertal abnormalities in females, ovarian primordial follicle loss and polycystic ovary disease were increased in F3 generation dioxin lineage animals. Analysis of the F3 generation sperm epigenome identified 50 differentially DNA methylated regions (DMR in gene promoters. These DMR provide potential epigenetic biomarkers for transgenerational disease and ancestral environmental exposures. Observations demonstrate dioxin exposure of a gestating female promotes epigenetic transgenerational inheritance of adult onset disease and sperm epimutations.

  5. Psychosocial impact of inherited and autoimmune blistering diseases

    Directory of Open Access Journals (Sweden)

    Swaranjali V. Jain, B Med Sci (Hons MD

    2018-03-01

    Full Text Available Inherited and autoimmune blistering diseases are rare, chronic, and often severe disorders that have the potential to significantly affect patients’ quality of life. The effective management of these conditions requires consideration of the physical, emotional, and social aspects of the disease. Self-esteem is integral to patients’ ability to cope with their illness, participate in treatment, and function in society. This article discusses quality-of-life studies of patients with blistering diseases with a particular focus on self-esteem issues that patients may face.

  6. Cases similar to the cerebrovascular 'Moyamoya disease'. Investigation by angiography and computed tomography

    Energy Technology Data Exchange (ETDEWEB)

    Tomura, Noriaki; Inugami, Atsushi; Higano, Shuichi; Fujita, Hideaki; Abe, Toushi; Shishido, Fumio; Uemura, Kazuo

    1988-10-01

    Findings of cerebral computed tomographies were investigated in 13 patients who did not satisfy the criteria of cerebrovascular Moyamoya disease, but showed the Moyamoya vessels (so-called pseudo-Moyamoya disease). Their ages ranged from 15 to 70 years old. Single patients were diagnosed as having pituitary adenoma after radiation therapy, head trauma, aplastic anemia, and the Rainoud phenomenon, and five as having hypertension. Angiography revealed occlusion and stenosis in the unilateral carotid forks in 7 and 5 patients, respectively. Other appearances included transdural anastomosis via the superficial temporal arteries, the anterior ethmoid arteries, and the collateral pathway from the perforating branches to the cortical branches. Low density areas were seen on CT in 10 patients, seven of whom had multiple areas. Low density areas were seen in the cerebral basal ganglia, watershed zone, and the outer side of the lateral cerebral body, in that order. Four patients had intracranial hemorrhage, subarachnoid hemorrhage, and hemorrhage infarction. Pseudo-Moyamoya disease was sometimes of the incomplete form of the cerebrovascular Moyamoya disease, and attributable to arterial stenosis or constricture due to radiation therapy. (Namekawa, K.).

  7. Clinical evaluation of SPECT in cerebrovascular disease

    International Nuclear Information System (INIS)

    Oshibuchi, Masao; Satoh, Mitsutaka; Kanda, Tetsuro; Nishi, Fumiaki; Yamane, Kanji; Fujimatsu, Masahiko; Edamitsu, Satoshi; Anno, Yasuro; Ohtake, Hisashi.

    1989-01-01

    In 131 patients with cerebrovascular disease, regional cerebral blood flow were determined by 123 I-IMP (N-isopropyl ( 123 I)-iodoamphetamine) or 99m Tc-HM-PAO ( 99m Tc (d, 1)-hexamethyl propyleneamine oxime) SPECT and findings were compared with those of X-CT or MRI. The perfusion deficit detected by SPECT was larger than the deficit by X-CT or MRI in every case. The perfusion deficit area was more clearly demonstrated by SPECT than by X-CT or MRI in patients with acute cerebral infarction. The hypoperfusion area determined by 123 I-IMP SPECT was wider than that by 99m Tc-HM-PAO SPECT. The crossed cerebellar diaschisis was observed in 56 out of 131 cases (43%). The results of operation were quantitatively evaluated by 123 I-IMP SPECT in 25 patients. (author)

  8. Establishment and evolution of the Australian Inherited Retinal Disease Register and DNA Bank.

    Science.gov (United States)

    De Roach, John N; McLaren, Terri L; Paterson, Rachel L; O'Brien, Emily C; Hoffmann, Ling; Mackey, David A; Hewitt, Alex W; Lamey, Tina M

    2013-07-01

    Inherited retinal disease represents a significant cause of blindness and visual morbidity worldwide. With the development of emerging molecular technologies, accessible and well-governed repositories of data characterising inherited retinal disease patients is becoming increasingly important. This manuscript introduces such a repository. Participants were recruited from the Retina Australia membership, through the Royal Australian and New Zealand College of Ophthalmologists, and by recruitment of suitable patients attending the Sir Charles Gairdner Hospital visual electrophysiology clinic. Four thousand one hundred ninety-three participants were recruited. All participants were members of families in which the proband was diagnosed with an inherited retinal disease (excluding age-related macular degeneration). Clinical and family information was collected by interview with the participant and by examination of medical records. In 2001, we began collecting DNA from Western Australian participants. In 2009 this activity was extended Australia-wide. Genetic analysis results were stored in the register as they were obtained. The main outcome measurement was the number of DNA samples (with associated phenotypic information) collected from Australian inherited retinal disease-affected families. DNA was obtained from 2873 participants. Retinitis pigmentosa, Stargardt disease and Usher syndrome participants comprised 61.0%, 9.9% and 6.4% of the register, respectively. This resource is a valuable tool for investigating the aetiology of inherited retinal diseases. As new molecular technologies are translated into clinical applications, this well-governed repository of clinical and genetic information will become increasingly relevant for tasks such as identifying candidates for gene-specific clinical trials. © 2012 The Authors. Clinical and Experimental Ophthalmology © 2012 Royal Australian and New Zealand College of Ophthalmologists.

  9. Study on the relationship between serum leptin level and ischemic cerebrovascular disease (ICVD)

    International Nuclear Information System (INIS)

    Luo Nanping; Hu Chengjing; Wang Ruishan; Yin Qiuxia; Niu Aijun; Xue Lian; Xue Shenwu; Chen Qing

    2004-01-01

    Objective: To investigate the inter-relationship among serum leptin insulin resistance and blood lipids, and to explore the role of leptin in the pathogenesis of ischemic cerebrovascular diseases (ICVD). Methods: Levels of serum leptin, insulin and blood lipids were determined with RIA in 131 patients with different types of ICVD and 36 controls. Results: The levels of serum leptin in ICVD patients were significantly higher than those in the controls (P<0.01). Changes of blood lipids and insulin paralleled those of leptin (cxcept with HDL-C). The serum leptin were positively correlated to cholesterol, TG and insulin levels (r=0.45, P<0.05; r=0.31, P<0.05, r=0.55, P<0.01), but negatively correlated to HDL-C (r=-0.88, P<0.05). Conclusion: The high expression of leptin in ICVD patients is associated with high lipid and insulin levels. The close relationship among them indicates that high leptin levels play an important role in the pathogenesis of metabolic syndrome as well as atheromatous cerebrovascular diseases. (authors)

  10. Understanding of and attitudes to genetic testing for inherited retinal disease: a patient perspective.

    Science.gov (United States)

    Willis, T A; Potrata, B; Ahmed, M; Hewison, J; Gale, R; Downey, L; McKibbin, M

    2013-09-01

    The views of people with inherited retinal disease are important to help develop health policy and plan services. This study aimed to record levels of understanding of and attitudes to genetic testing for inherited retinal disease, and views on the availability of testing. Telephone questionnaires comprising quantitative and qualitative items were completed with adults with inherited retinal disease. Participants were recruited via postal invitation (response rate 48%), approach at clinic or newsletters of relevant charitable organisations. Questionnaires were completed with 200 participants. Responses indicated that participants' perceived understanding of genetic testing for inherited retinal disease was variable. The majority (90%) considered testing to be good/very good and would be likely to undergo genetic testing (90%) if offered. Most supported the provision of diagnostic (97%) and predictive (92%) testing, but support was less strong for testing as part of reproductive planning. Most (87%) agreed with the statement that testing should be offered only after the individual has received genetic counselling from a professional. Subgroup analyses revealed differences associated with participant age, gender, education level and ethnicity (p<0.02). Participants reported a range of perceived benefits (eg, family planning, access to treatment) and risks (eg, impact upon family relationships, emotional consequences). Adults with inherited retinal disease strongly support the provision of publicly funded genetic testing. Support was stronger for diagnostic and predictive testing than for testing as part of reproductive planning.

  11. Association between smoke-free legislation and hospitalizations for cardiac, cerebrovascular, and respiratory diseases: a meta-analysis.

    Science.gov (United States)

    Tan, Crystal E; Glantz, Stanton A

    2012-10-30

    Secondhand smoke causes cardiovascular and respiratory disease. Smoke-free legislation is associated with a lower risk of hospitalization and death from these diseases. Random-effects meta-analysis was conducted by law comprehensiveness to determine the relationship between smoke-free legislation and hospital admission or death from cardiac, cerebrovascular, and respiratory diseases. Studies were identified by using a systematic search for studies published before November 30, 2011 with the use of the Science Citation Index, Google Scholar, PubMed, and Embase and references in identified articles. Change in hospital admissions (or deaths) in the presence of a smoke-free law, duration of follow-up, and law comprehensiveness (workplaces only; workplaces and restaurants; or workplaces, restaurants, and bars) were recorded. Forty-five studies of 33 smoke-free laws with median follow-up of 24 months (range, 2-57 months) were included. Comprehensive smoke-free legislation was associated with significantly lower rates of hospital admissions (or deaths) for all 4 diagnostic groups: coronary events (relative risk, 0.848; 95% confidence interval 0.816-0.881), other heart disease (relative risk, 0.610; 95% confidence interval, 0.440-0.847), cerebrovascular accidents (relative risk, 0.840; 95% confidence interval, 0.753-0.936), and respiratory disease (relative risk, 0.760; 95% confidence interval, 0.682-0.846). The difference in risk following comprehensive smoke-free laws does not change with longer follow-up. More comprehensive laws were associated with larger changes in risk. Smoke-free legislation was associated with a lower risk of smoking-related cardiac, cerebrovascular, and respiratory diseases, with more comprehensive laws associated with greater changes in risk.

  12. Motor function declines over time in human immunodeficiency virus and is associated with cerebrovascular disease, while HIV-associated neurocognitive disorder remains stable.

    Science.gov (United States)

    M Elicer, Isabel; Byrd, Desiree; Clark, Uraina S; Morgello, Susan; Robinson-Papp, Jessica

    2018-04-25

    HIV-associated neurocognitive disorders (HAND) remain prevalent in the combined antiretroviral therapy (CART) era, especially the milder forms. Despite these milder phenotypes, we have shown that motor abnormalities persist and have quantified them with the HIV Dementia Motor Scale (HDMS). Our objectives were to replicate, in an independent sample, our prior findings that the HDMS is associated with cognitive impairment in HIV, while adding consideration of age-associated comorbidities such as cerebrovascular disease, and to examine the longitudinal trajectories of cognitive and motor dysfunction. We included all participants enrolled in the Manhattan HIV Brain Bank (MHBB) from January 2007 to May 2017 who had complete baseline data (N = 164). MHBB participants undergo standardized longitudinal assessments including documentation of comorbidities and medications, blood work, the HDMS, and neurocognitive testing. We found that motor dysfunction, cognitive impairment, and cerebrovascular disease were significantly associated with each other at baseline. Cerebrovascular disease independently predicted cognitive impairment in a multivariable model. Longitudinal analysis in a subset of 78 participants with ≥ 4 years of follow-up showed a stable cognition but declining motor function. We conclude that the HDMS is a valid measurement of motor dysfunction in HIV-infected patients and is associated with cognitive impairment and the presence of cerebrovascular disease. Cognitive impairment is mild and stable in CART-treated HIV; however, motor function declines over time, which may be related to the accrual of comorbidities such as cerebrovascular disease. Further research should examine the mechanisms underlying motor dysfunction in HIV and its clinical impact.

  13. Acetazolamide as a vasodilatory stimulus in cerebrovascular diseases and in conditions affecting the cerebral vasculature

    NARCIS (Netherlands)

    Settakis, G.; Molnár, C.; Kerényi, L.; Kollár, J.; Legemate, D.; Csiba, L.; Fülesdi, B.

    2003-01-01

    Pathologic processes affecting the brain vessels may damage cerebral vasodilatory capacity. Early detection of cerebral dysfunction plays an important role in the prevention of cerebrovascular diseases. In recent decades acetazolamide (AZ) has frequently been used for this purpose. In the present

  14. Data Mining and Pattern Recognition Models for Identifying Inherited Diseases: Challenges and Implications

    OpenAIRE

    Iddamalgoda, Lahiru; Das, Partha S.; Aponso, Achala; Sundararajan, Vijayaraghava S.; Suravajhala, Prashanth; Valadi, Jayaraman K.

    2016-01-01

    Data mining and pattern recognition methods reveal interesting findings in genetic studies, especially on how the genetic makeup is associated with inherited diseases. Although researchers have proposed various data mining models for biomedical approaches, there remains a challenge in accurately prioritizing the single nucleotide polymorphisms (SNP) associated with the disease. In this commentary, we review the state-of-art data mining and pattern recognition models for identifying inherited ...

  15. Doença cerebrovascular na infância: II. Aspectos clínicos em 42 casos Cerebrovascular disease in children: II. Clinical aspects in 42 cases

    Directory of Open Access Journals (Sweden)

    MARIA VALERIANA L. MOURA-RIBEIRO

    1999-09-01

    Full Text Available Entre 1990 e 1998 foram analisadas, do ponto de vista clínico, 42 crianças com diagnóstico de doença cerebrovascular, internadas no Hospital das Clínicas da FCM-UNICAMP. O distúrbio cerebrovascular mais frequente foi do tipo isquêmico com acometimento predominante da artéria cerebral média, sendo o quadro clínico agudo caracterizado por manifestações epilépticas e alterações motoras, principalmente em crianças de idade precoce. A avaliação do seguimento das crianças mostrou predomínio de sequelas motoras.We report the findings recorded in 42 children suffering cerebrovascular disease and assisted at the Hospital das Clínicas FCM-UNICAMP, over a 8 years period (January 1990 until April 1998. The ischemic type was the most common, and involvement of the middle cerebral artery, sudden onset of clinical manifestation with seizures and motor disability were more common in early aged children. Motor sequelae predominated in the follow-up of these children.

  16. Cerebrovascular diseases in a fixed population Hiroshima and Nagasaki with special reference to relationship between type and risk factors

    International Nuclear Information System (INIS)

    Lin, Chow-How; Shimizu, Yukiko; Kato, Hiroo; Robertson, T.L.; Furonaka, Hiroshi.

    1980-10-01

    A study was made of the incidence of cerebrovascular diseases, their chronological trend, and relationship between the disease types and risk factors on 16,491 subjects of Hiroshima and Nagasaki who underwent medical examination at least once between 1958 - 74, and who were free of cerebrovascular disease at the initial examination. During the 16-year period, 1,162 cases of cerebrovascular disease developed in this study population with the diagnosis definite in 621, and the annual incidence was 3.2 per 1,000 population. By type, there were 108 cases of cerebral hemorrhage, 469 cases of cerebral infarction, 33 cases of subarachnoid hemorrhage, and 11 cases of other unclassifiable types, with cerebral infarction occurring more frequently than cerebral hemorrhage at the ratio of 4.5 : 1. The incidence of cerebrovascular diseases increased with age in both types, but the proportion of younger subjects in cerebral hemorrhage was greater than that in cerebral infarction. A secular trend of declining incidence was noted for both cerebral hemorrhage and cerebral infarction. As a risk factor of cerebral hemorrhage, elevation of systolic and diastolic blood pressure was the most closely related to onset, and left ventricular hypertrophy on electrocardiogram (ECG) and proteinuria were also related. However, a tendency was seen for the risk to be somewhat higher the lower the levels of serum cholesterol. In cerebral infarction, aging, like systolic blood pressure, was a most important risk factor. Left ventricular hypertrophy on ECG, proteinuria, and diabetes could also be risk factors. However, the relation to blood pressure, especially diastolic blood pressure, was not so great as in the case of cerebral hemorrhage. (author)

  17. The effects of 'Oren-gedoku-to' and quantitative evaluation of cerebral blood flow for cerebrovascular diseases

    International Nuclear Information System (INIS)

    Ushikubo, Yukio; Sakurai, Takatoshi; Yokouchi, Tetuya

    1998-01-01

    Fifty-seven patients with sequela of cerebrovascular diseases were treated with 'Oren-gedoku-to' for 8 weeks to examine the possibilities of improvements in subjective symptom, motive deterioration, mental disorder, unusual behaviors and intellectual malfunction. These symptoms showed improvement of 41.6%, 54.2%, 75.0%, 63.0%, 21.3%, respectively. For 21 patients, amount of regional cerebral blood flow were measured with SPECT. Results showed an increase of 1.7ml/100g/min. at average. However, there was no statistical difference observed among 'improved' cases, 'slightly improved' cases and 'no change or deteriorated' cases. 'Oren-gedoku-to' worked effectively for cerebrovascular diseases with the exception of intellectual malfunction. Results of the SPECT suggest though, it is uncertain whether these improvements were brought about by the increase of cerebral blood flow. (author)

  18. Hospital registry in special department for patients with acute cerebrovascular disease

    Directory of Open Access Journals (Sweden)

    Maslyuk О.А.

    2014-12-01

    Full Text Available Aim: organization and follow-up of a registry of patients with cerebrovascular disease in in special department. Materials and methods. In the period from January 2011 to December 2013 all cases of cerebrovascular disease in the special department were recorded. Each patient had an electronic case book and thematic record, developed on the basis of the materials of the National Stoke Association of "Registry of stroke." Results. 418 cases of cerebral stroke were registered. Male to female ratio was 3.7: 1. Patients with initial diagnosed cerebral stroke were 78%, secondary 22%. The average age of patients was 63. The big number of strokes was observed in men aged 56-57 years; in women aged 75-77 years. TOAST criteria for subtypes of ischemic stroke were distributed to: atherothrombotic (29,3%, cardioembolic (29,1 %, 22,4% lacunar ischemic stroke due to other established reasons (8,8%, crptogenic (10,4%. Hemorrhagic stroke was observed in 16.8% of cases. Parenchymal hemorrhage was observed in 10.7% of cases, nontraumatic subarachnoid hemorrhage (4,5%. Among the risk factors in patients with ischemic stroke identified: arterial hypertension (88,9%, coronary heart disease (43%, heart rhythm disorders (28,4%, diabetes (18,6%. The proportion of endovascular interventions performed for 3 years was 31.2%. Mortality rate was 3.74% (10 people in 2011; 4.65% (14 people in 2012; 2.48% (7 people in 2013. Conclusion. Follow up the hospital stroke registry allowed to estimate the structure andcourse of cerebral stroke, found the risk factors to identify the most important factors of death.

  19. The Mode of Inheritance of Scheuermann’s Disease

    Directory of Open Access Journals (Sweden)

    A. M. Zaidman

    2013-01-01

    Full Text Available The mode of Scheuermann’s disease inheritance and its phenotypic traits in probands and their relatives were studied in 90 pedigrees (90 probands and 385 relatives. The disorder was identified as a genetically related pathology inherited by autosomal dominant type, controlled by a mutant major gene, as a kyphotic deformity without signs of vertebral bodies’ anomaly and torsion. Morphological and biochemical studies showed disturbance in the structure of vertebral growth plate anterior aspects at the level of deformity, defects in proliferation and differentiation of chondrocytes, and change in proteoglycan spectrum in cells and matrix. Twelve candidate genes were studied in chondrocytes isolated from vertebral growth plates of patients with Scheuermann’s disease. The study results included disorder in the IHH gene expression and preservation of the expression of PAX1, two aggrecan isoforms, link protein, types I and II collagen, lumican, versican, growth hormone and growth factor receptor genes, and proliferation gene. Preservation of the SOX9 gene (transcription gene probably indicates posttranscriptional genetic disorders. The study is under way.

  20. Predictive factors for cerebrovascular accidents after thoracic endovascular aortic repair.

    Science.gov (United States)

    Mariscalco, Giovanni; Piffaretti, Gabriele; Tozzi, Matteo; Bacuzzi, Alessandro; Carrafiello, Giampaolo; Sala, Andrea; Castelli, Patrizio

    2009-12-01

    Cerebrovascular accidents are devastating and worrisome complications after thoracic endovascular aortic repair. The aim of this study was to determine cerebrovascular accident predictors after thoracic endovascular aortic repair. Between January 2001 and June 2008, 76 patients treated with thoracic endovascular aortic repair were prospectively enrolled. The study cohort included 61 men; mean age was 65.4 +/- 16.8 years. All patients underwent a specific neurologic assessment on an hourly basis postoperatively to detect neurologic deficits. Cerebrovascular accidents were diagnosed on the basis of physical examination, tomography scan or magnetic resonance imaging, or autopsy. Cerebrovascular accidents occurred in 8 (10.5%) patients, including 4 transient ischemic attack and 4 major strokes. Four cases were observed within the first 24-hours. Multivariable analysis revealed that anatomic incompleteness of the Willis circle (odds ratio [OR] 17.19, 95% confidence interval [CI] 2.10 to 140.66), as well as the presence of coronary artery disease (OR 6.86, 95 CI% 1.18 to 40.05), were independently associated with postoperative cerebrovascular accident development. Overall hospital mortality was 9.2%, with no significant difference for patients hit by cerebrovascular accidents (25.0% vs 7.3%, p = 0.102). Preexisting coronary artery disease, reflecting a severe diseased aorta and anomalies of Willis circle are independent cerebrovascular accident predictors after thoracic endovascular aortic repair procedures. A careful evaluation of the arch vessels and cerebral vascularization should be mandatory for patients suitable for thoracic endovascular aortic repair.

  1. Ocurrencia de enfermedad cerebrovascular en pacientes hipertensos

    Directory of Open Access Journals (Sweden)

    María de la Concepción Orbay Araña

    2002-10-01

    Full Text Available Se realizó un estudio para establecer la relación entre la hipertensión arterial esencial y la enfermedad cerebrovascular, en 19 consultorios del Médico de la Familia del Policlínico Plaza de la Revolución. Se aplicó una encuesta a pacientes reevaluados como hipertensos, confeccionándose una base de datos para tratamiento en el sistema FOXBASE versión 5.0. Aplicamos prueba de asociación entre variables cualitativas que se distribuyen en Chi cuadrado. Se identificó el comportamiento de la hipertensión arterial atendiendo a grados, los grupos etáreos, el sexo, la raza y los factores de riesgo asociados. Se estableció igualmente la relación entre el control de la hipertensión arterial y la aparición de la enfermedad cerebrovascular y encontramos un 15 % de población hipertensa, predominando la moderada (36,88 %, con mayor representación los grupos etáreos de 55 a 64 años (38,29 % y de 45 a 54 (23,16 %, del sexo femenino (55,02 % y de la raza blanca (54,04 %. La ocurrencia de enfermedad cerebrovascular estuvo representada por el 4, 35 %, correspondiente a 71 pacientes, con mayor asociación a la hipertensión arterial severa. No resultó significativamente estadística la relación entre enfermedad cerebrovascular e hipertensión arterial.A study was conducted to establish the relationship between essential arterial hypertension and cerebrovascular disease in 19 family physician offices of "Plaza de la Revolución" Polyclinic. Those patientes reevaluated as hypertensive were surveyed. A database for treatment was created in the FOXBASE system, version 5.0. A Chi square test of association among qualitative variables, which are distributed, was applied. The behavior of arterial hypertension was identified according to degrees, age groups, sex, race and the associated risk factors. The relation between the control of arterial hypertension and the appearance of cerebrovascular disease was also established. It was found a 15 % of

  2. Prothrombin and risk of venous thromboembolism, ischemic heart disease and ischemic cerebrovascular disease in the general population

    DEFF Research Database (Denmark)

    Weischer, Maren; Juul, Klaus; Zacho, Jeppe

    2010-01-01

    OBJECTIVE: We tested the hypotheses that Prothrombin G20210A heterozygosity associate with increased risk of venous thromboembolism (VTE), ischemic heart disease (IHD), and ischemic cerebrovascular disease (ICVD) in the general population and re-tested risk of IHD and ICVD in two case......-control studies. METHODS: 9231 individuals from the Danish general population were followed for VTE (VTE=DVT+PE), deep venous thrombosis (DVT), pulmonary embolism (PE), IHD, myocardial infarction (MI), ICVD, and ischemic stroke (IS) for a median of 24 years. Case-control studies included 2461 IHD cases and 867...

  3. The national burden of cerebrovascular diseases in Spain: a population-based study using disability-adjusted life years.

    Science.gov (United States)

    Catalá-López, Ferrán; Fernández de Larrea-Baz, Nerea; Morant-Ginestar, Consuelo; Álvarez-Martín, Elena; Díaz-Guzmán, Jaime; Gènova-Maleras, Ricard

    2015-04-20

    The aim of the present study was to determine the national burden of cerebrovascular diseases in the adult population of Spain. Cross-sectional, descriptive population-based study. We calculated the disability-adjusted life years (DALY) metric using country-specific data from national statistics and epidemiological studies to obtain representative outcomes for the Spanish population. DALYs were divided into years of life lost due to premature mortality (YLLs) and years of life lived with disability (YLDs). DALYs were estimated for the year 2008 by applying demographic structure by sex and age-groups, cause-specific mortality, morbidity data and new disability weights proposed in the recent Global Burden of Disease study. In the base case, neither YLLs nor YLDs were discounted or age-weighted. Uncertainty around DALYs was tested using sensitivity analyses. In Spain, cerebrovascular diseases generated 418,052 DALYs, comprising 337,000 (80.6%) YLLs and 81,052 (19.4%) YLDs. This accounts for 1,113 DALYs per 100,000 population (men: 1,197 and women: 1,033) and 3,912 per 100,000 in those over the age of 65 years (men: 4,427 and women: 2,033). Depending on the standard life table and choice of social values used for calculation, total DALYs varied by 15.3% and 59.9% below the main estimate. Estimates provided here represent a comprehensive analysis of the burden of cerebrovascular diseases at a national level. Prevention and control programmes aimed at reducing the disease burden merit further priority in Spain. Copyright © 2013 Elsevier España, S.L.U. All rights reserved.

  4. Use of cardiovascular polypills for the secondary prevention of cerebrovascular disease.

    Science.gov (United States)

    Masjuan, J; Gállego, J; Aguilera, J M; Arenillas, J F; Castellanos, M; Díaz, F; Portilla, J C; Purroy, F

    2018-01-08

    There is little control of cardiovascular (CV) risk factors in secondary prevention after an ischaemic stroke, in part due to a lack of adherence to treatment. The CV polypill may contribute to proper treatment adherence, which is necessary for CV disease prevention. This study aimed to establish how and in what cases the CV polypill should be administered. A group of 8 neurologists drafted consensus recommendations using structured brainstorming and based on their experience and a literature review. These recommendations are based on the opinion of the participating experts. The use of the CV polypill is beneficial for patients, healthcare professionals, and the health system. Its use is most appropriate for atherothrombotic stroke, lacunar stroke, stroke associated with cognitive impairment, cryptogenic stroke with CV risk factors, and silent cerebrovascular disease. It is the preferred treatment in cases of suspected poor adherence, polymedicated patients, elderly people, patients with polyvascular disease or severe atherothrombosis, young patients in active work, and patients who express a preference for the CV polypill. Administration options include switching from individual drugs to the CV polypill, starting treatment with the CV polypill in the acute phase in particular cases, use in patients receiving another statin or an angiotensin ii receptor antagonist, or de novo use if there is suspicion of poor adherence. Nevertheless, use of the CV polypill requires follow-up on the achievement of the therapeutic objectives to make dose adjustments. This document is the first to establish recommendations for the use of the CV polypill in cerebrovascular disease, beyond its advantages in terms of treatment adherence. Copyright © 2017 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. Potential Linkage Between Cerebrovascular Diseases and Metabolic Syndrome.

    Science.gov (United States)

    Jabir, Nasimudeen R; Firoz, Chelapram Kandy; Khan, Mohd Shahnawaz; Zaidi, Syed Kashif; Ashraf, Ghulam Md; Shakil, Shazi; Kamal, Mohammad Amjad; Tabrez, Shams

    2017-01-01

    Cerebrovascular disease (CD) and metabolic syndrome (MetS) are two devastating health dilemma that continues to be a potential contributor to disability and mortality in human population all across the world. Scientific data clearly shows several mechanistic similarities between these two co-existing and interlinked conditions. The linkage exacerbates ongoing patho-physiological condition towards more lethal events. In view of the presence of modifiable risk factors in both CD and MetS, their management holds potential therapeutic value. Hence, developing common treatment strategies for these diseases could involve common molecular agents. In this communication, we have summarized some of the common pathological conditions viz. abdominal obesity, insulin resistance, dyslipidemia, hypertension, and endothelial dysfunction that further deteriorate existing homeostasis in CD and MetS. Based on our article, it is advocated that substantial improvements in novel multi-targeted drug discovery could provide the effective treatment methods in order to avoid the fatal complications related with CD and MetS. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  6. Non-genomic transgenerational inheritance of disease risk.

    Science.gov (United States)

    Gluckman, Peter D; Hanson, Mark A; Beedle, Alan S

    2007-02-01

    That there is a heritable or familial component of susceptibility to chronic non-communicable diseases such as type 2 diabetes, obesity and cardiovascular disease is well established, but there is increasing evidence that some elements of such heritability are transmitted non-genomically and that the processes whereby environmental influences act during early development to shape disease risk in later life can have effects beyond a single generation. Such heritability may operate through epigenetic mechanisms involving regulation of either imprinted or non-imprinted genes but also through broader mechanisms related to parental physiology or behaviour. We review evidence and potential mechanisms for non-genomic transgenerational inheritance of 'lifestyle' disease and propose that the 'developmental origins of disease' phenomenon is a maladaptive consequence of an ancestral mechanism of developmental plasticity that may have had adaptive value in the evolution of generalist species such as Homo sapiens. Copyright 2007 Wiley Periodicals, Inc.

  7. [Systolic blood pressure and functional outcome in patients with acute stroke: a Mexican registry of acute cerebrovascular disease (RENAMEVASC)].

    Science.gov (United States)

    Baños-González, Manuel; Cantú-Brito, Carlos; Chiquete, Erwin; Arauz, Antonio; Ruiz-Sandoval, José Luís; Villarreal-Careaga, Jorge; Barinagarrementeria, Fernando; Lozano, José Juan

    2011-01-01

    To analyze the association between the admission systolic blood pressure (SBP) and 30-day outcome in patients with acute cerebrovascular disease. The REgistro NAcional Mexicano de Enfermedad VAScular Cerebral (RENAMEVASC) is a hospital-based multicenter registry performed between November 2002 and October 2004. A total of 2000 patients with clinical syndromes of acute cerebrovascular disease confirmed by neuroimaging were registered. The modified Rankin scale was used for outcome stratification. We analyzed 1721 patients who had registered their SBP: 78 (4.5%) had transient ischemic attack, 894 (51.9%) brain infarction, 534 (30.9%) intracerebral hemorrhage, 165 (9.6%) subarachnoid hemorrhage and 50 (2.9%) cerebral venous thrombosis. Among 1036 (60.2%) patients with the antecedent of hypertension, only 32.4% had regular treatment. The 30-day case fatality rate presented a J pattern with respect to SBP, so that the risk of death was highest in 65 years (RR: 2.16, IC 95%: 1.74 - 2.67). Both hypotension and significant arterial hypertension at hospital admission are associated with an adverse outcome after acute cerebrovascular disease. Nevertheless, a good functional outcome can be attained in a wide range of SBP.

  8. Diagnosis and treatment of chronic cerebrovascular disease, use of pentoxifylline

    Directory of Open Access Journals (Sweden)

    V. A. Parfenov

    2016-01-01

    Full Text Available Chronic cerebrovascular disease (CCVD is one of the most common  iagnoses in Russian neurology, by which is meant vascular cognitive impairment (VCI in modern foreign literature. There are data available in the literature on the diagnosis and treatment of CCVD (VCI. Theresults of the author’s studies show that CCVD often masks other diseases (anxiety and depressive disorders, primary headache, peripheral vestibulopathy, and Alzheimer's disease that are unfortunately poorly diagnosed in our country, so patients do not receive effective treatment. To modify risk factors for stroke (smoking and alcohol cessation, sufficient exercise, to normalize blood pressure (the use of antihypertensivemedications, to reduce blood cholesterol levels (statins, to perform antithrombotic therapy (antiplatelet agents and anticoagulants, and to use cognitive enhancers are of key importance when treating patients with CCVD (VCI. There are data on the use of pentoxifylline in patients with CCVD, vascular dementia.

  9. The radiological manifestations of sickle cell disease

    International Nuclear Information System (INIS)

    Madani, G.; Papadopoulou, A.M.; Holloway, B.; Robins, A.; Davis, J.; Murray, D.

    2007-01-01

    Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD

  10. The radiological manifestations of sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Madani, G. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom)]. E-mail: gittamadani@yahoo.com; Papadopoulou, A.M. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Holloway, B. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Robins, A. [Department of Paediatrics, Whittington Hospital NHS Trust, London (United Kingdom); Davis, J. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom); Murray, D. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom)

    2007-06-15

    Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD.

  11. Ischemia-modified albumin levels in cerebrovascular accidents.

    Science.gov (United States)

    Gunduz, Abdulkadir; Turedi, Suleyman; Mentese, Ahmet; Altunayoglu, Vildan; Turan, Ibrahim; Karahan, Suleyman Caner; Topbas, Murat; Aydin, Murat; Eraydin, Ismet; Akcan, Buket

    2008-10-01

    Previous studies have demonstrated that ischemia-modified albumin (IMA) is a useful marker for the diagnosis of ischemic events. It was also recently demonstrated that IMA levels increase in the acute phase of cerebrovascular diseases. Yet the data regarding IMA levels in various types of cerebrovascular events are insufficient. The aim of this study was to evaluate IMA levels in various types of cerebrovascular events such as ischemic stroke, subarachnoid hemorrhage (SAH), and intracranial hemorrhage. This case-controlled study consisted of 106 consecutive patients, 43 with brain infarction (BI), 11 with brain hemorrhage (ICH), 52 with SAH, and a 43-member control group. We investigated whether there was a statistical correlation between these 3 groups and the control group. The relations among the 3 groups were also examined. Comparisons among groups were done with analysis of variance. Mean serum IMA levels were 0.280 +/- 0.045 absorbance units (ABSU) for BI patients, 0.259 +/- 0.053 ABSU for ICH patients, 0.243 +/- 0.061 ABSU for SAH patients, and 0.172 +/- 0.045 ABSU for the control group.There was a statistically significant difference between the mean IMA levels of BI, ICH, and SAH patients and the mean control patient IMA levels (P b .0001). Ischemia-modified albumin levels are high in cerebrovascular diseases. Ischemia-modified albumin measurement can also be used to distinguish SAH from BI during the acute phase of cerebrovascular event in the emergency department.

  12. Adaptive optics imaging of inherited retinal diseases.

    Science.gov (United States)

    Georgiou, Michalis; Kalitzeos, Angelos; Patterson, Emily J; Dubra, Alfredo; Carroll, Joseph; Michaelides, Michel

    2017-11-15

    Adaptive optics (AO) ophthalmoscopy allows for non-invasive retinal phenotyping on a microscopic scale, thereby helping to improve our understanding of retinal diseases. An increasing number of natural history studies and ongoing/planned interventional clinical trials exploit AO ophthalmoscopy both for participant selection, stratification and monitoring treatment safety and efficacy. In this review, we briefly discuss the evolution of AO ophthalmoscopy, recent developments and its application to a broad range of inherited retinal diseases, including Stargardt disease, retinitis pigmentosa and achromatopsia. Finally, we describe the impact of this in vivo microscopic imaging on our understanding of disease pathogenesis, clinical trial design and outcome metrics, while recognising the limitation of the small cohorts reported to date. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  13. Usefulness of preoperative coronary angiography and brain computed tomography in cases of coronary artery disease and cerebrovascular disease undergoing revascularization for arteriosclerosis obliterans

    International Nuclear Information System (INIS)

    Sakurada, Tall; Shibata, Yoshiki

    2003-01-01

    Coronary angiography and brain computed tomography were preoperatively performed to evaluate the clinical condition of coronary artery disease and cerebrovascular disease in 101 patients (mean age, 68.4 years) with revascularization for arteriosclerosis obliterans. Eighty patients had hypertension, 12 had diabetes, and 26 had hyperlipidemia. Seventy-one patients (70.3%) had coronary stenosis. Significant stenoses in major coronary artery branches were confirmed in 35 patients, including 13 patients with old myocardial infarction. Coronary artery bypass grafting and percutaneous coronary angioplasty were performed in 2 and 7 patients with critical stenosis, respectively. Of 57 patients, who underwent brain computed tomography, abnormalities were found in 52 patients (91.2%), including cortical infarction in 9, lacunar infarction in 35, and leukoaraiosis in 27 patients. During the follow-up period 13 patients died (including 3 cases of myocardial infarction and 3 cases of stroke). Actuarial survival rate at 5 years was 80.4%. The influence of ischemic heart disease and cerebrovascular disease on early and late mortality after surgical reconstruction for peripheral occlusive vascular disease is significant. Using visual diagnostic techniques, such as coronary angiography and brain computed tomography, long term survivor should be closely observed for multiple arteriosclerotic vascular diseases. (author)

  14. Usefulness of preoperative coronary angiography and brain computed tomography in cases of coronary artery disease and cerebrovascular disease undergoing revascularization for arteriosclerosis obliterans

    Energy Technology Data Exchange (ETDEWEB)

    Sakurada, Tall; Shibata, Yoshiki [Southern Tohoku Fukushima Hospital (Japan)

    2003-05-01

    Coronary angiography and brain computed tomography were preoperatively performed to evaluate the clinical condition of coronary artery disease and cerebrovascular disease in 101 patients (mean age, 68.4 years) with revascularization for arteriosclerosis obliterans. Eighty patients had hypertension, 12 had diabetes, and 26 had hyperlipidemia. Seventy-one patients (70.3%) had coronary stenosis. Significant stenoses in major coronary artery branches were confirmed in 35 patients, including 13 patients with old myocardial infarction. Coronary artery bypass grafting and percutaneous coronary angioplasty were performed in 2 and 7 patients with critical stenosis, respectively. Of 57 patients, who underwent brain computed tomography, abnormalities were found in 52 patients (91.2%), including cortical infarction in 9, lacunar infarction in 35, and leukoaraiosis in 27 patients. During the follow-up period 13 patients died (including 3 cases of myocardial infarction and 3 cases of stroke). Actuarial survival rate at 5 years was 80.4%. The influence of ischemic heart disease and cerebrovascular disease on early and late mortality after surgical reconstruction for peripheral occlusive vascular disease is significant. Using visual diagnostic techniques, such as coronary angiography and brain computed tomography, long term survivor should be closely observed for multiple arteriosclerotic vascular diseases. (author)

  15. The Vulnerability of Vessels Involved in the Role of Embolism and Hypoperfusion in the Mechanisms of Ischemic Cerebrovascular Diseases

    Directory of Open Access Journals (Sweden)

    Yong Peng Yu

    2016-01-01

    Full Text Available Accurate definition and better understanding of the mechanisms of stroke are crucial as this will guide the effective care and therapy. In this paper, we review the previous basic and clinical researches on the causes or mechanisms of ischemic cerebrovascular diseases (ICVD and interpret the correlation between embolism and hypoperfusion based on vascular stenosis and arterial intimal lesions. It was suggested that if there is no embolus (dynamic or in situ emboli, there might be no cerebral infarction. Three kinds of different clinical outcomes of TIA were theoretically interpreted based on its mechanisms. We suppose that there is a correlation between embolism and hypoperfusion, and which mechanisms (hypoperfusion or hypoperfusion induced microemboli playing the dominant role in each type of ICVD depends on the unique background of arterial intimal lesions (the vulnerability of vessels. That is to say, the vulnerability of vessels is involved in the role of embolism and hypoperfusion in the mechanisms of ischemic cerebrovascular diseases. This inference might enrich and provide better understandings for the underlying etiologies of ischemic cerebrovascular events.

  16. [Progress in research on pathogenic genes and gene therapy for inherited retinal diseases].

    Science.gov (United States)

    Zhu, Ling; Cao, Cong; Sun, Jiji; Gao, Tao; Liang, Xiaoyang; Nie, Zhipeng; Ji, Yanchun; Jiang, Pingping; Guan, Minxin

    2017-02-10

    Inherited retinal diseases (IRDs), including retinitis pigmentosa, Usher syndrome, Cone-Rod degenerations, inherited macular dystrophy, Leber's congenital amaurosis, Leber's hereditary optic neuropathy are the most common and severe types of hereditary ocular diseases. So far more than 200 pathogenic genes have been identified. With the growing knowledge of the genetics and mechanisms of IRDs, a number of gene therapeutic strategies have been developed in the laboratory or even entered clinical trials. Here the progress of IRD research on the pathogenic genes and therapeutic strategies, particularly gene therapy, are reviewed.

  17. Impact of vessel wall lesions and vascular stenoses on cerebrovascular reactivity in patients with intracranial stenotic disease

    NARCIS (Netherlands)

    Cogswell, Petrice M; Davis, Taylor L; Strother, Megan K; Faraco, Carlos C; Scott, Allison O; Jordan, Lori C; Fusco, Matthew R; Frederick, Blaise deB; Hendrikse, Jeroen; Donahue, Manus J

    2017-01-01

    PURPOSE: To compare cerebrovascular reactivity (CVR) and CVR lagtimes in flow territories perfused by vessels with vs. without proximal arterial wall disease and/or stenosis, separately in patients with atherosclerotic and nonatherosclerotic (moyamoya) intracranial stenosis. MATERIALS AND METHODS:

  18. First translational 'Think Tank' on cerebrovascular disease, cognitive impairment and dementia.

    Science.gov (United States)

    Barone, Frank C; Gustafson, Deborah; Crystal, Howard A; Moreno, Herman; Adamski, Mateusz G; Arai, Ken; Baird, Alison E; Balucani, Clotilde; Brickman, Adam M; Cechetto, David; Gorelick, Philip; Biessels, Geert Jan; Kiliaan, Amanda; Launer, Lenore; Schneider, Julie; Sorond, Farzaneh A; Whitmer, Rachel; Wright, Clinton; Zhang, Zheng Gang

    2016-02-13

    As the human population continues to age, an increasing number of people will exhibit significant deficits in cognitive function and dementia. It is now recognized that cerebrovascular, metabolic and neurodegenerative diseases all play major roles in the evolution of cognitive impairment and dementia. Thus with our more recent recognition of these relationships and our need to understand and more positively impact on this world health problem, "The Leo and Anne Albert Charitable Trust" (Gene Pranzo, Trustee with significant support from Susan Brogan, Meeting Planner) provided generous support for this inaugural international workshop that was held from April 13-16, 2015 at the beautiful Ritz Carlton Golf Resort in North Naples, Florida. Researchers from SUNY Downstate Medical Center, Brooklyn, NY organized the event by selecting the present group of translationally inclined preclinical, clinical and population scientists focused on cerebrovascular disease (CVD) risk and its progression to vascular cognitive impairment (VCI) and dementia. Participants at the workshop addressed important issues related to aging, cognition and dementia by: (1) sharing new data, information and perspectives that intersect vascular, metabolic and neurodegenerative diseases, (2) discussing gaps in translating population risk, clinical and preclinical information to the progression of cognitive loss, and (3) debating new approaches and methods to fill these gaps that can translate into future therapeutic interventions. Participants agreed on topics for group discussion prior to the meeting and focused on specific translational goals that included promoting better understanding of dementia mechanisms, the identification of potential therapeutic targets for intervention, and discussed/debated the potential utility of diagnostic/prognostic markers. Below summarizes the new data-presentations, concepts, novel directions and specific discussion topics addressed by this international

  19. [Catecholaminergic polymorphic ventricular tachycardia is a rare inherited heart disease.

    DEFF Research Database (Denmark)

    Holst, Anders Gaarsdal; Tfelt-Hansen, 1jacob; Olesen, Morten S

    2010-01-01

    Catecholaminergic polymorphic ventricular tachycardia is a rare inherited heart disease, which can lead to life-threatening ventricular arrhythmias in patients with a structurally normal heart. The age of onset is usually between two and 12 years and the initial symptom is frequently syncope...

  20. Comparison of carotid and cerebrovascular disease between diabetic and non-diabetic patients using dual-source CT

    International Nuclear Information System (INIS)

    He Ci; Yang Zhigang; Chu Zhigang; Dong Zhihui; Li Yunming; Shao Heng; Deng Wen

    2011-01-01

    Purpose: To clarify the differences of the carotid and cerebrovascular disease between patients with and without type 2 diabetes using dual-source CT angiography. Materials and methods: Dual-source CT angiography of the carotid and cerebrovascular arteries was performed in 79 type 2 diabetic patients and 207 non-diabetic patients. The type, extent and distribution of plaques, and luminal stenosis were compared. Results: Compared with non-diabetic patients, diabetic patients had a higher overall incidence of plaque (p 0.05), as well as for the number of diseased segments and the distribution of plaques; both mainly involved the bilateral cavernous segment of the internal carotid artery. As for the stenosis, non-obstructive lesions were more common in diabetic patients (p 0.05). Conclusion: Diabetes is associated with a higher incidence of plaque and non-obstructive stenosis. However, no significant differences were observed in the type, extent and distribution of involved plaques between diabetic and non-diabetic patients.

  1. Cerebrovascular Disease in Rheumatic Diseases: A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Wiseman, Stewart J; Ralston, Stuart H; Wardlaw, Joanna M

    2016-04-01

    Some rheumatic diseases are associated with stroke. Less is known about associations with stroke subtypes or stroke risk by age. We quantified the association between stroke, its subtypes, and rheumatic diseases and identified when stroke risk is greatest. Searches of EMBASE (from 1980) and MEDLINE (from inception) to end 2014 and manual search of reference lists for studies of stroke and stroke subtypes in rheumatic diseases as well as studies measuring cerebrovascular disease from magnetic resonance imaging. Prior published meta-analyses and new pooled analyses of any stroke in rheumatoid arthritis, systemic lupus erythematosus, ankylosing spondylitis, gout, and psoriasis show an excess risk of stroke over the general population with odds ratio (OR) ranging from 1.51 (95% confidence interval: 1.39-1.62) to 2.13 (1.53-2.98). New meta-analyses of stroke subtypes in rheumatoid arthritis [ischemic: OR, 1.64 (1.32-2.05); hemorrhagic: OR, 1.68 (1.11-2.53)] and systemic lupus erythematosus [ischemic: OR, 2.11 (1.66-2.67); hemorrhagic: OR, 1.82 (1.07-3.09)] show an excess risk of stroke over the general population. Stroke risk across rheumatic diseases is highest in those aged 65 years: OR, 1.14 (0.94-1.38); difference Pdiseases (OR, 1.3, 1.2-1.3). It was not possible to adjust ORs for risk factors or treatments. Risk of any stroke is higher in most rheumatic diseases than in the general population, particularly <50 years. Rheumatoid arthritis and systemic lupus erythematosus increase ischemic and hemorrhagic stroke risk by 60% to 100% relative to the general population. © 2016 American Heart Association, Inc.

  2. Diagnostic value of MRI in cerebrovascular disease

    Energy Technology Data Exchange (ETDEWEB)

    Sone, Reiko; Uchiyama, Shinichiro; Kobayashi, Itsuro; Maruyama, Shoichi; Kakinoki, Yoshio; Ono, Yuko; Kobayashi, Naotoshi (Tokyo Women' s Medical Coll. (Japan))

    1989-06-01

    Thirty-four patients with cerebrovascular disease were studied with both magnetic resonance imaging (MRI) and cranial computed tomography (CT). They were 29 cerebral or cerebreller infarction and 5 cerebral bleeding. From the clinical symptoms, supratentorial lesions were suspected in 17 patients. Areas of abnormal density on CT were detected in all these patients. Areas of abnormal intensity on MRI were detected in 14 patients. Based on the infratentorial MRI, in four patients who have not shown any abnormal symptoms asyptomatic small lesions were detected. Infratentorial lesions were suspected in 17 patients. Areas of abnormal density on CT were detected in 6 patients (35%), while areas of abnormal intensity on MRI were detected in 13 patients (77%). Abnormal regions, which failed to be demonstrated on MRI were enhanced with Gd-DTPA in a patient with midbrain infarction. In a patient with Wallenberg's syndrome, area of abnormal intensity shown by MRI was consistent with lateral medullary infarct identified by autopsy. The results indicate that MRI is more useful than CT for detecting brainstem lesions in stroke. (author).

  3. Bibliometric analysis of literature in cerebrovascular and cardiovascular diseases rehabilitation: growing numbers, reducing impact factor.

    Science.gov (United States)

    Ugolini, Donatella; Neri, Monica; Cesario, Alfredo; Marazzi, Giuseppe; Milazzo, Daniele; Volterrani, Maurizio; Bennati, Luca; Bonassi, Stefano; Pasqualetti, Patrizio

    2013-02-01

    To explore temporal trends, geographic distribution, and socioeconomic determinants of scientific production in the field of cerebrovascular and cardiovascular disease (CCD) rehabilitation. Citations from 1967 to 2008 were downloaded from the PubMed database. Core of the search strategy was the key word cardiovascular diseases in the Medical Subject Headings major field with the subheading rehabilitation. Journal Citation Reports was used to assign an impact factor (IF). Demographic and economic data were retrieved from the International Monetary Fund. All articles retrieved were included in the bibliometric analysis. The search strategy was validated on a random sample of the articles retrieved. The search quality reflected the level of error of the PubMed database. Publications retrieved were 10,379 and have grown 8.6 times in 40 years, faster than the all-diseases rehabilitation field (7.8 times), with a particularly steep growth for cerebrovascular diseases in the last 15 years (5 times). However, in the last decade, the articles' quality (IF) decreased. From 1994 to 2008, 3466 citations were retrieved; 44.4% came from the European Union and 30.3% from the United States. The highest mean IF was reported for France (4.127). The United Kingdom and some relatively small northern European Union countries had the best ratio of IF (sum) to resident population or to gross domestic product. The most frequently used key word was stroke, and 3 journals (Archives of Physical Medicine and Rehabilitation, Clinical Rehabilitation, and Stroke) published one quarter of the articles. The overall scientific production in the field of CCD rehabilitation showed a steep growth in the last decade, especially because of cerebrovascular research. In the same period, a decrease in the overall IF was observed. The European Union and the United States contributed 3 of every 4 articles in the field, although some Asian countries showed promising performance. Copyright © 2013 American

  4. Vascular care in patients with Alzheimer disease with cerebrovascular lesions slows progression of white matter lesions on MRI: the evaluation of vascular care in Alzheimer's disease (EVA) study.

    Science.gov (United States)

    Richard, Edo; Gouw, Alida A; Scheltens, Philip; van Gool, Willem A

    2010-03-01

    White matter lesions (WMLs) and cerebral infarcts are common findings in Alzheimer disease and may contribute to dementia severity. WMLs and lacunar infarcts may provide a potential target for intervention strategies. This study assessed whether multicomponent vascular care in patients with Alzheimer disease with cerebrovascular lesions slows progression of WMLs and prevents occurrence of new infarcts. A randomized controlled clinical trial, including 123 subjects, compared vascular care with standard care in patients with Alzheimer disease with cerebrovascular lesions on MRI. Progression of WMLs, lacunes, medial temporal lobe atrophy, and global cortical atrophy were semiquantitatively scored after 2-year follow-up. Sixty-five subjects (36 vascular care, 29 standard care) had a baseline and a follow-up MRI and in 58 subjects, a follow-up scan could not be obtained due to advanced dementia or death. Subjects in the vascular care group had less progression of WMLs as measured with the WML change score (1.4 versus 2.3, P=0.03). There was no difference in the number of new lacunes or change in global cortical atrophy or medial temporal lobe atrophy between the 2 groups. Vascular care in patients with Alzheimer disease with cerebrovascular lesions slows progression of WMLs. Treatment aimed at vascular risk factors in patients with early Alzheimer disease may be beneficial, possibly in an even earlier stage of the disease.

  5. Data Mining and Pattern Recognition Models for Identifying Inherited Diseases: Challenges and Implications.

    Science.gov (United States)

    Iddamalgoda, Lahiru; Das, Partha S; Aponso, Achala; Sundararajan, Vijayaraghava S; Suravajhala, Prashanth; Valadi, Jayaraman K

    2016-01-01

    Data mining and pattern recognition methods reveal interesting findings in genetic studies, especially on how the genetic makeup is associated with inherited diseases. Although researchers have proposed various data mining models for biomedical approaches, there remains a challenge in accurately prioritizing the single nucleotide polymorphisms (SNP) associated with the disease. In this commentary, we review the state-of-art data mining and pattern recognition models for identifying inherited diseases and deliberate the need of binary classification- and scoring-based prioritization methods in determining causal variants. While we discuss the pros and cons associated with these methods known, we argue that the gene prioritization methods and the protein interaction (PPI) methods in conjunction with the K nearest neighbors' could be used in accurately categorizing the genetic factors in disease causation.

  6. Cerebrovascular disease in newborn infants: report of three cases with clinical follow-up and brain SPECT imaging

    Energy Technology Data Exchange (ETDEWEB)

    Moura-Ribeiro, Maria Valeriana L. de; Ciasca, Sylvia Maria; Vale-Cavalcanti, Mariza; Etchebehere, Elba C.S.C.; Camargo, Edwaldo E. [Universidade Estadual de Campinas, SP (Brazil). Faculdade de Ciencias Medicas

    1999-07-01

    The clinical and neurological findings of three neonates with the diagnosis of cerebrovascular disease are reported. The neuropsychological evaluation disclosed impairment of fine motor function, coordination, language, perception and behavioral disturbances. Brain SPECT imaging revealed perfusional deficits in the three cases. (author)

  7. Cerebrovascular disease in newborn infants: report of three cases with clinical follow-up and brain SPECT imaging

    International Nuclear Information System (INIS)

    Moura-Ribeiro, Maria Valeriana L. de; Ciasca, Sylvia Maria; Vale-Cavalcanti, Mariza; Etchebehere, Elba C.S.C.; Camargo, Edwaldo E.

    1999-01-01

    The clinical and neurological findings of three neonates with the diagnosis of cerebrovascular disease are reported. The neuropsychological evaluation disclosed impairment of fine motor function, coordination, language, perception and behavioral disturbances. Brain SPECT imaging revealed perfusional deficits in the three cases. (author)

  8. Assessment of cerebrovascular reactivity during major depression and after remission of disease

    Directory of Open Access Journals (Sweden)

    Vakilian Alireza

    2010-01-01

    Full Text Available Background: There are a growing number of studies suggesting that depression may increase the risk of stroke. Impaired autoregulation of vascular tone may contribute to a higher risk of developing cerebrovascular diseases. Cerebrovascular reactivity (CVR reflects the compensatory dilatory capacity of cerebral arterioles to a dilatory stimulus and is an important mechanism that ensures constant cerebral blood flow. There is a hypothesis that CVR is reduced in major depression, which would explain the association between depression and stroke. Objectives: The aim of this study was to investigate the effect of depression on CVR in cerebral vessels by comparing CVR during the depression phase with that during remission. Material and Methods: Using the apnea test, we assessed CVR in 16 patients with unipolar depression during disease and after remission of disease by calculating the increase in cerebral blood flow velocity after breath-holding (the apnea test. Blood flow velocities were measured by transcranial Doppler ultrasound (TCD. Results: CVR was significantly reduced in the depression phase in comparison to that in the remission phase. However, this change was not seen in all the patients. Conclusion: CVR was reduced in most of the depressed patients. The decreased CVR, as indicated by the changes in peak systolic velocity (PSV and mean flow velocity (MFV of the middle cerebral artery, in depressed patients was more marked on the right side, which could point to a vascular basis for some kinds of depression. We recommend that other studies, with larger samples, be done; future studies should assess whether the changes in the CVR varies with the severity and type of depression.

  9. Clinical Characteristics of Cerebrovascular Pathology with Patients Suffering from Ph-Negative Myeloproliferative Disease

    Directory of Open Access Journals (Sweden)

    Marine M. Tanashyan

    2016-09-01

    Full Text Available Background: Disturbances of microcirculation play a significant role in the development and progression of both acute and chronic cerebrovascular diseases (CVD and may be associated with different hemogram abnormalities. One of the reasons of the prothrombogenic state of the endothelium is the increase in the number of blood corpuscles leading to (non-Ph myeloproliferative disorders (MPD including essential thrombocythemia (ET, polycythemia vera (PV, and primary myelofibrosis (PM. Materials and Methods: The study included 167 patients: 102 patients with Ph-MPD and the control group comprising 65 patients with CVD. According to MPD subtype, the patients were divided into three groups: patients with ET (37%, n = 38, male/female 7/31, age 52 ± 7 years, those with PV (40%, n = 41, male/female 20/21, age 50 ± 6 years and those with PM (23%, n = 23, male/female 5/18, age 54 ± 4 years. Results: In 79% (n = 81 of cases in the study group (with Ph-MPD, patients had chronic CVD, with the most frequently identified symptoms being asthenia (92% and headache (72%. Headache in Ph-MPD patients was more frequently (86% associated with PM, while in patients with PV and ET it was equally distributed (70%. Neurological symptoms in 53% of cases were associated with focal changes of the brain on MRI localized in the subcortical area of the frontal and parietal lobes. Twenty-one (21% patients suffered an acute cerebrovascular accident, 8 of them had thrombotic occlusion of one of the internal carotid arteries leading to hemispheric infarcts. Endothelial function (as measured by flow-dependent dilation of the brachial artery was severely impaired in all study groups (median 5% with normal cut-off at 10%, the lowest degree of vasodilator activity being specific for patients with a history of stroke (p = 0.011. Conclusion: Patients suffering from MPD had asymptomatic focal changes in the brain in the absence of concomitant vascular disease (hypertension

  10. Improvement of postoperative cognitive dysfunction and attention network function of patients with ischemic cerebrovascular disease via dexmedetomidine.

    Science.gov (United States)

    Zhang, Jingchao; Wang, Guoliang; Zhang, Fangxiang; Zhao, Qian

    2018-03-01

    The protective effect of dexmedetomidine on cognitive dysfunction and decreased attention network function of patients with ischemic cerebrovascular disease after stenting was investigated. Fifty-eight patients with ischemic cerebrovascular disease undergoing stenting in Guizhou Provincial People's Hospital were selected and randomly divided into control group (n=29) and dexmedetomidine group (n=29). The dexmedetomidine group was treated with dexmedetomidine before induced anesthesia, while the control group was given the same dose of normal saline; and the normal volunteers of the same age were selected as the normal group (n=29). At 3 days after operation, the levels of serum S100B and nerve growth factor (NGF) in each group were detected using the enzyme-linked immunosorbent assay, and the level of brain-derived neurotrophic factor (BDNF) was detected via western blotting. Montreal cognitive assessment (MoCA) and attention network test (ANT) were performed. Moreover, the cognitive function and attention network function, and the effects of dexmedetomidine on cognitive function and attention network function were evaluated. The concentrations of serum S100B and NGF in dexmedetomidine group was lower than those in control group (Pfunction scores, attention scores, delayed memory scores, targeted network efficiency and executive control network efficiency in dexmedetomidine group were obviously higher than those in control group (Pcognitive function and attention network function of patients with ischemic cerebrovascular disease have a certain degree of damage, and the preoperative administration of dexmedetomidine can effectively improve the patient's cognitive dysfunction and attention network function after operation.

  11. Data mining and Pattern Recognizing Models for Identifying Inherited Diseases: Challenges and Implications

    Directory of Open Access Journals (Sweden)

    Lahiru Iddamalgoda

    2016-08-01

    Full Text Available Data mining and pattern recognition methods reveal interesting findings in genetic studies, especially on how genetic makeup is associated with inherited diseases. Although researchers have proposed various data mining models for biomedical approaches, there remains a challenge in accurately determining the responsible genetic factors for prioritizing the single nucleotide polymorphisms (SNP associated with the disease. In this commentary, we review the state-of-art data mining and pattern recognition models for identifying inherited diseases and deliberate the need of binary classification and scoring based prioritization methods for determining causal variants. While we discuss the pros and cons associated with these methods known, we argue that the gene prioritization methods and the protein interaction (PPI methods in conjunction with the K nearest neighbors’ could be used in accurately categorizing the genetic factors in disease causation

  12. [Epidemiology of cerebrovascular disease in Spain].

    Science.gov (United States)

    Brea, Angel; Laclaustra, Martín; Martorell, Esperanza; Pedragosa, Angels

    2013-01-01

    In Spain, cerebrovascular disease (CVD) is a very common cause of morbidity and hospitalization. They are the second leading cause of mortality in the general population, and the first in women. They also constitute a very high social spending, which is estimated to increase in coming years, due to the aging of our population. Data from the Hospital Morbidity Survey of the National Statistics Institute recorded, in 2011, 116,017 strokes and 14,933 transient ischemic attacks, corresponding, respectively, to an incidence of 252 and 32 events per 100,000 people. In 2002, the cost of hospitalization for each stroke was estimated at €3,047. The amount of total cost health care throughout the life of a stroke patient is calculated at €43,129. Internationally, the direct costs of stroke constitute 3% of national health spending, this being similar amount in different countries around us. Hypertension was the cardiovascular risk factor (CVRF) more prevalent in both ischemic and hemorrhagic strokes, followed by dyslipidemia and diabetes mellitus. Peripheral arterial disease and hypertension were more frequently associated with atherothrombotic events, atrial fibrillation with cardioembolic strokes, and obesity and high blood pressure to lacunar infarcts. In Spain, as showing several studies, we are far from optimal control of CVRF, especially in secondary prevention of stroke. According to the ICTUSCARE study, achieving recommended values was 17.6% in the case of hypertension, 29.8% in LDL-cholesterol, 74.9% of smoking, and 50.2% in diabetes mellitus. In this review, we analyze in detail the epidemiology, prevention and costs originated by CVD. Copyright © 2013 Elsevier España, S.L. y SEA. All rights reserved.

  13. Small Vessel Cerebrovascular Disease: The Past, Present, and Future

    Directory of Open Access Journals (Sweden)

    Réza Behrouz

    2012-01-01

    Full Text Available Brain infarction due to small vessel cerebrovascular disease (SVCD—also known as small vessel infarct (SVI or “lacunar” stroke—accounts for 20% to 25% of all ischemic strokes. Historically, SVIs have been associated with a favorable short-term prognosis. However, studies over the years have demonstrated that SVCD/SVI is perhaps a more complex and less benign phenomenon than generally presumed. The currently employed diagnostic and therapeutic strategies are based upon historical and contemporary perceptions of SVCD/SVI. What is discovered in the future will unmask the true countenance of SVCD/SVI and help furnish more accurate prognostication schemes and effective treatments for this condition. This paper is an overview of SVCD/SVI with respect to the discoveries of the past, what is known now, and what will the ongoing investigations evince in the future.

  14. Autosomal dominant inheritance Caffey-Silverman disease hyperostosis corticalis infantum

    International Nuclear Information System (INIS)

    Rogoyski, A.; Jakubowska, K.; Tronowska, T.D.

    1984-01-01

    A case of Caffey-Silverman disease is described in an infant aged 4.5 months. The case was erroneously diagnosed in the initial stage of the disease as osteitis. The correct diagnosis was established after radiological examination of the skeleton. The pathological lesions involved the mandible, both clavicles, all ribs, left shoulder blade, both radial bones and left ulna. Follow-up radiological examination after 12 months demonstrated nearly complete disappearance of the previously observed skeletal changes. At the age of 18 months the condition of the child was good and its development was normal. Radiological changes indicating past Caffey-Silverman disease were disclosed in the mother and maternal grandmother of the child. This indicates an autosomal dominant type of inheritance of the disease. (Author)

  15. Relationship between oxygen free radicals, cytokines, cortisol and stress complications in patients with acute cerebrovascular disease

    International Nuclear Information System (INIS)

    Zhu Yingbin; Wang Bingjie; Li Yunchao

    2010-01-01

    Objective: To investigate the relationship between oxygen free radicals, cytokines, cortisol and stress complications in patients with acute cerebrovascular disease (ACVD). Methods: Serum levels of superoxide dismutases (SOD), malonaldehyde (MDA) (with biochemistry) interleukin-6 (IL-6), tumor necrosis factor (TNF-α) and cortisol (with RIA) were measured in 32 patients with acute cerebrovascular disease (ACVD) plus stress complications and 48 patients without stress complications as well as 36 controls. Results: Serum SOD contents in non-stressed group were higher than those in stressed group (P<0.05) but lower than those of the controls (P<0.05). However the levels of MDA, IL-6, TNF-α and cortisol were highest in the stressed group and lowest in the controls (all P<0.05). Conclusion: Oxygen free radicals, IL-6, TNF-α and cortisol were involved in stress complications in patients with ACVD. Monitoring the levels of serum SOD, MDA, IL-6, TNF-α and cortisol could be useful for predicting stress complications and evaluating the therapeutic effect. (authors)

  16. Transcatheter aortic valve implantation and cerebrovascular accidents.

    Science.gov (United States)

    Stortecky, Stefan; Wenaweser, Peter; Windecker, Stephan

    2012-09-01

    Transcatheter aortic valve implantation (TAVI) is an evidence-based treatment alternative for selected high-risk patients with symptomatic severe aortic stenosis as acknowledged in the most recent edition of the ESC Guidelines on Valvular Heart Disease 2012. However, periprocedural complications and in particular cerebrovascular accidents remain a matter of concern. While transcatheter heart valve technology continuously improves and the development of novel and even less invasive implantation techniques is on-going, cerebrovascular events complicating TAVI may abrogate the usual improvement in terms of prognosis and quality of life. This article describes the incidence of cerebrovascular events after cardiovascular procedures, provides an overview of the pathophysiological mechanisms as well as the impact on outcomes and provides some insights into preventive strategies as well as the acute management of these events.

  17. Inherited metabolic liver diseases in infants and children: an overview

    Directory of Open Access Journals (Sweden)

    Ivo Barić

    2013-10-01

    Full Text Available Inborn errors of metabolism, which affect the liver are a large, continuously increasing group of diseases. Their clinical onset can occur at any age, from intrauterine period presenting as liver failure already at birth to late adulthood. Inherited metabolic disorders must be considered in differential diagnosis of every unexplained liver disease. Specific diagnostic work-up for either their confirmation or exclusion should start immediately since any postponing can result in delayed diagnosis and death or irreversible disability. This can be particularly painful while many inherited metabolic liver diseases are relatively easily treatable if diagnosed on time, for instance galactosemia or hereditary fructose intolerance by simple dietary means. Any unexplained liver disease, even one looking initially benign, should be considered as a potential liver failure and therefore should deserve proper attention. Diagnosis in neonates is additionally complicated because of the factors which can mask liver disease, such as physiological neonatal jaundice, normally relatively enlarged liver and increased transaminases at that age. In everyday practice, in order to reveal the etiology, it is useful to classify and distinguish some clinical patterns which, together with a few routine, widely available laboratory tests (aminotransferases, prothrombine time, albumin, gammaGT, total and conjugated bilirubin, ammonia, alkaline phosphatase and glucose make the search for the cause much easier. These patterns are isolated hyperbilirubinemia, syndrome of cholestasis in early infancy, hepatocellular jaundice, Reye syndrome, portal cirrhosis and isolated hepatomegaly. Despite the fact that some diseases can present with more than one pattern (for instance, alpha-1-antitrypsin deficiency as infantile cholestasis, but also as hepatocellular jaundice, and that in some disesases one pattern can evolve into another (for instance, Wilson disease from hepatocellular

  18. [Lipids and cerebrovascular disease - New therapeutic options in lowering LDL-cholesterol].

    Science.gov (United States)

    Lovadi, Emese; Csécsei, Péter; Lovig, Csenge; Karádi, Zsófia; Szapáry, László

    2016-12-01

    Stroke is the third most common cause of death worldwide following myocardial infaction and malignancies, furthermore, its functional outcome is the worst of all conditions. Cholesterol, especially LDL-cholesterol plays a key role in the formation of atherosclerotic plaques. It has been verified recently that escalating incidence and mortality of cerebrovascular diseases are proportional to increased levels of LDL-cholesterol. Statin therapy undeniably reduces the risk of stroke, however other methods for decreasing lipid levels have not been proved significantly effective. Preventive effect of high-dose statin treatment is without doubt, although administration of such high dosage might require special precautions for patients with prior intracerebral hemorrhage and it also risks development of incident diabetes. The recently published IMPROVE-IT study is the first to prove that the addition of ezetimibe as a non-statin type drug, to statin treatment contributes to further reduction of LDL-cholesterol. The combination treatment results in additional decrease in the incidence and mortality of cerebrovascular events, without any expansion in the number or adverse effects. These results confirm the importance of any further reduction of LDL-cholesterol levels. Achieving target values with statin-ezetimibe combination allows administration of low to moderate dose of statin, which decreases risks of adverse effects related to high-dose statin therapy. Orv. Hetil., 2016, 157(52), 2059-2065.

  19. The ethical framework for performing research with rare inherited neurometabolic disease patients.

    Science.gov (United States)

    Giannuzzi, Viviana; Devlieger, Hugo; Margari, Lucia; Odlind, Viveca Lena; Ragab, Lamis; Bellettato, Cinzia Maria; D'Avanzo, Francesca; Lampe, Christina; Cassis, Linda; Cortès-Saladelafont, Elisenda; Cazorla, Ángels Garcia; Barić, Ivo; Cvitanović-Šojat, Ljerka; Fumić, Ksenija; Dali, Christine I; Bartoloni, Franco; Bonifazi, Fedele; Scarpa, Maurizio; Ceci, Adriana

    2017-03-01

    The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide 'consent'; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical research involving these patients and to evaluate if these cover the ethical issues. Three searches have been performed on the European regulatory/legal framework, the literature and European Union-funded projects. The European legal framework offers a number of ethical provisions ruling the clinical research on paediatric, rare, inherited diseases with neurological symptoms. In the literature, relevant publications deal with informed consent, newborn genetic screenings, gene therapy and rights/interests of research participants. Additional information raised from European projects on sharing patients' data from different countries, the need to fill the gap of the regulatory framework and to improve information to stakeholders and patients/families. Several recommendations and guidelines on ethical aspects are applicable to the inherited neurometabolic disease research in Europe, even though they suffer from the lack of a common ethical approach. What is Known: • When planning and conducting clinical trials, sponsors and researchers know that clinical trials are to be performed according to well-established ethical rules, and patients should be aware about their rights. • In the cases of paediatric patients, vulnerable patients unable to provide consent, genetic diseases' further rules apply. What is New: • This work discusses which ethical rules apply to ensure protection of patient's rights if all the above-mentioned features coexist. • This work shows available data and

  20. Inherited Disease Genetics Improves the Identification of Cancer-Associated Genes.

    Directory of Open Access Journals (Sweden)

    Boyang Zhao

    2016-06-01

    Full Text Available The identification of biologically significant variants in cancer genomes is critical to therapeutic discovery, but it is limited by the statistical power needed to discern driver from passenger. Independent biological data can be used to filter cancer exomes and increase statistical power. Large genetic databases for inherited diseases are uniquely suited to this task because they contain specific amino acid alterations with known pathogenicity and molecular mechanisms. However, no rigorous method to overlay this information onto the cancer exome exists. Here, we present a computational methodology that overlays any variant database onto the somatic mutations in all cancer exomes. We validate the computation experimentally and identify novel associations in a re-analysis of 7362 cancer exomes. This analysis identified activating SOS1 mutations associated with Noonan syndrome as significantly altered in melanoma and the first kinase-activating mutations in ACVR1 associated with adult tumors. Beyond a filter, significant variants found in both rare cancers and rare inherited diseases increase the unmet medical need for therapeutics that target these variants and may bootstrap drug discovery efforts in orphan indications.

  1. Contribution of inherited heart disease to sudden cardiac death in childhood

    NARCIS (Netherlands)

    Hofman, Nynke; Tan, Hanno L.; Clur, Sally-Ann; Alders, Mariel; van Langen, Irene M.; Wilde, Arthur A. M.

    2007-01-01

    BACKGROUND. In children aged 1 to 18 years, the causes of sudden cardiac death may remain unresolved when autopsy results are negative. Because inherited cardiac diseases are likely, cardiologic and genetic investigations of relatives may still yield the diagnosis in these cases. Moreover, these

  2. Crossed cerebellar atrophy in cases with cerebrovascular disease

    International Nuclear Information System (INIS)

    Yagishita, Toshiyuki; Kojima, Shigeyuki; Hirayama, Keizo; Iwabuchi, Sadamu.

    1989-01-01

    Crossed cerebellar atrophy (CCA) was investigated by X-ray CT to establish the incidence, mechanism, and the relation to cerebral lesions in 130 cases of unilateral supratentorial cerebrovascular diseases. The 130 cases consisted of 83 males and 47 females with cerebral infarction (65 cases) and cerebral hemorrhage (65 cases). The patients' average age was 57.6 years. Crossed cerebellar atrophy was demonstrated in 8 cases (6.2%), 6 of whom had massive cerebral infarction in the middle cerebral artery area (9.2% of the 65 cases of cerebral infarction. The six cases of CCA caused by cerebral infarction had lesions in the frontal and temporal lobes. Two had a cerebral hemorrhage in the putamen and in the thalamus, respectively, accounting for 3.1% of the 65 cases of cerebral hemorrhage. Of the 2 cases, one had putaminal hemorrhage, and the other had thalamic hemorrhage. Cerebrovascular stroke had occured in these patients with CCA more than 2 months previously. In 5 of the 8 cases of CCA, atrophy was present in the basis pedunculi and the basis pontis on the side of the cerebral lesion. However, neither dilation nor deformity of the fourth ventricle was present in any of the patients, suggesting that none of the CCA patients had atrophy of the dentate nucleus. The CCA patients had massive cerebral lesion in the frontal and temporal lobes or atrophy of the basis pedunculi and basis pontis, suggesting the presence of the transsynaptic degeneration of the cortico-ponto-cerebellar pathway. In the case of the thalamic hemorrhage, who had not hemorrhagic lesion in the frontal and temporal lobes, atrophy of the basis peduncli and basis pontis was not observed. Though dilation or deformity of the fourth ventricle is not observed in this case, presence of the degeneration of the dentate-rubro-thalamic pathway cannot be denied. CCA seems to be caused by both the transsynaptic degeneration of the cortico-ponto-cerebellar pathway and the dentate-rubro-thalamic pathway. (J.P.N.)

  3. Clinical neurogenetics: behavioral management of inherited neurodegenerative disease.

    Science.gov (United States)

    Wexler, Eric

    2013-11-01

    Psychiatric symptoms often manifest years before overt neurologic signs in patients with inherited neurodegenerative disease. The most frequently cited example of this phenomenon is the early onset of personality changes in "presymptomatic" Huntington patients. In some cases the changes in mood and cognition are even more debilitating than their neurologic symptoms. The goal of this article is to provide the neurologist with a concise primer that can be applied in a busy clinic or private practice. Copyright © 2013 Elsevier Inc. All rights reserved.

  4. The ethical framework for performing research with rare inherited neurometabolic disease patients

    OpenAIRE

    Giannuzzi, Viviana; Devlieger, Hugo; Margari, Lucia; Odlind, Viveca Lena; Ragab, Lamis; Bellettato, Cinzia Maria; D?Avanzo, Francesca; Lampe, Christina; Cassis, Linda; Cort?s-Saladelafont, Elisenda; Cazorla, ?ngels Garcia; Bari?, Ivo; Cvitanovi?-?ojat, Ljerka; Fumi?, Ksenija; Dali, Christine I

    2017-01-01

    The need for performing clinical trials to develop well-studied and appropriate medicines for inherited neurometabolic disease patients faces ethical concerns mainly raising from four aspects: the diseases are rare; include young and very young patients; the neurological impairment may compromise the capability to provide ?consent?; and the genetic nature of the disease leads to further ethical implications. This work is intended to identify the ethical provisions applicable to clinical resea...

  5. Clinical application of MR susceptibility weighted imaging in cerebrovascular diseases

    International Nuclear Information System (INIS)

    Zhu Wenzhen; Qi Jianpin; Shen Hao; Wang Chengyuan; Xia Liming; Hu Junwu; Feng Dingyi

    2007-01-01

    Objective: To assess clinical application value of susceptibility weighted imaging (SWI) in cerebrovascular diseases. Method: Twenty-three patients with cerebrovascular disease were investigated, including 7 cases of cavernoma, 4 of venous hemangioma, 3 of small AVM, 1 of Sturge-Weber Syndrome, 2 of cerebral venous sinus thrombosis and 6 of chronic cerebral infarction. All patients underwent standard Mill and SWI, and most of them also underwent enhanced T 1 WI and MRA. The corrected phase (CP) values were obtained at the lesions and control areas. Results: The average CP values of the lesions and the control areas were -0.112±0.032 and -0.013±0.004, respectively (t=2.167, P 2 WI. The cavemoma could be differentiated from the hemorrhage within lesions. Moreover, multiple microcavernomas were detected on SWI. In 4 cases of venous hemangioma, SWI detected spider-like lesions with more hair-thin pulp veins adjacent to the dilated draining vein than contrast MRI. In 3 cases of small AVM, SWI was more advantageous than MRA in clearly detecting the small feeding artery. In 1 case of Sturge-Weber Syndrome, SWI demonstrated large areas of calcification and the abnormal vessels on the cerebral surface and the deep part of the cerebrum at the same time. In 2 cases of cerebral venous sinus thrombosis, the deep draining veins and superficial venous rete were generally dilated and winding, and the hemorrhagic lesions could be detected earlier than conventional MR images in one case. In 6 eases of cerebral infarction, old hemorrhage was clearly displayed within the lesions. Conclusion: SWI has more predominant advantages than conventional MRI and MRA in detecting the low-flow cerebral vascular malformations, identifying microbleeds and cerebral infarction accompanying hemorrhage, and the dilation of cerebral deep or superficial veins in patients with cerebral venous sinus thrombosis. Moreover, SWI can show the phase contrast between the lesions and the control areas. (authors)

  6. Maternal inheritance and mitochondrial DNA variants in familial Parkinson's disease

    Directory of Open Access Journals (Sweden)

    Pfeiffer Ronald F

    2010-04-01

    Full Text Available Abstract Background Mitochondrial function is impaired in Parkinson's disease (PD and may contribute to the pathogenesis of PD, but the causes of mitochondrial impairment in PD are unknown. Mitochondrial dysfunction is recapitulated in cell lines expressing mitochondrial DNA (mtDNA from PD patients, implicating mtDNA variants or mutations, though the role of mtDNA variants or mutations in PD risk remains unclear. We investigated the potential contribution of mtDNA variants or mutations to the risk of PD. Methods We examined the possibility of a maternal inheritance bias as well as the association between mitochondrial haplogroups and maternal inheritance and disease risk in a case-control study of 168 multiplex PD families in which the proband and one parent were diagnosed with PD. 2-tailed Fisher Exact Tests and McNemar's tests were used to compare allele frequencies, and a t-test to compare ages of onset. Results The frequency of affected mothers of the proband with PD (83/167, 49.4% was not significantly different from the frequency of affected females of the proband generation (115/259, 44.4% (Odds Ratio 1.22; 95%CI 0.83 - 1.81. After correcting for multiple tests, there were no significant differences in the frequencies of mitochondrial haplogroups or of the 10398G complex I gene polymorphism in PD patients compared to controls, and no significant associations with age of onset of PD. Mitochondrial haplogroup and 10398G polymorphism frequencies were similar in probands having an affected father as compared to probands having an affected mother. Conclusions These data fail to demonstrate a bias towards maternal inheritance in familial PD. Consistent with this, we find no association of common haplogroup-defining mtDNA variants or for the 10398G variant with the risk of PD. However, these data do not exclude a role for mtDNA variants in other populations, and it remains possible that other inherited mitochondrial DNA variants, or somatic m

  7. Efficacy and safety of galantamine in the treatment of Alzheimer’s Disease and Alzheimer’s Disease with cerebrovascular (Mixed Dementia (GAL-DEM-402

    Directory of Open Access Journals (Sweden)

    S. F. Lumempouw

    2007-06-01

    Full Text Available This study was aimed to evaluate the efficacy and safety of Acetylcholinesterase Inhibitor Galantamine (Reminyl® for patients with Alzheimer’s Disease (AD and Alzheimer’s Disease with cerebrovascular Disease (AD+CVD or mixed Dementia. A 6-month open label observational study of Galantamine has been conducted on 28 patients with AD and AD+CVD patients. Primary endpoints were cognitive performance as assessed using the Mini Mental Scale Examination (MMSE, the Restricted Reminding Test, the Neuropsychology Assessment, the Clinical Dementia Rating (CDR to assess global function and the Neuropsychiatric Inventory (NPI to assess behavioral symptoms. Patients were also monitored for safety evaluation. Six month Galantamine group had a significant better outcome of cognitive performance, global function and behavioral symptoms compared with the baseline data as were assessed using the MMSE (p<0.05, the Restricted Reminding (p<0.05, the Neuropsychology Assessment (p<0.05, the CDR (p<0.05 and the NPI (p<0.05. Minimal adverse events (32% were anorexia and nausea. It is concluded that Galantamine has a significant benefit to improve cognitive, global function, behavioral symptoms and only caused minimal adverse events. (Med J Indones 2007; 16:94-100Keywords: Galantamine, alzheimer, cerebrovascular disease, dementia, AD, AD+CVD

  8. Bacterial Endocarditis and Cerebrovascular Disease.

    Science.gov (United States)

    Silver, Brian; Behrouz, Réza; Silliman, Scott

    2016-12-01

    Cerebrovascular complications of endocarditis occur in 25-70% of patients with infective endocarditis. The cornerstone of treatment is early initiation of antibiotic treatment, which significantly reduces the risk of embolization after 1 week of treatment. In general, thrombolysis and anticoagulation of these patients should be avoided, while antiplatelet therapy may be considered in those with other indications. Endovascular treatment of acute septic emboli is uncertain, but a few case reports have demonstrated benefit. Other complications of infective endocarditis include intracerebral hemorrhage, which may be predicted by the presence of two or more cerebral microbleeds on gradient echo sequences. Intracranial mycotic aneurysms can often be managed with serial imaging and coiled if there is evidence of failure to reduce in size, or enlargement.

  9. Clinical significance of measurements of serum IL-6 levels in patients with cardiovascular and cerebrovascular diseases

    International Nuclear Information System (INIS)

    Wu Cuihua; Luo Nanping; Zhang Daojie; Wei Hong

    2004-01-01

    Objective: To explore the clinical significance of changes of serum IL-6 levels in patients with cardiovascular and cerebrovascular diseases. Methods: Serum IL-6 levels were determined with RIA in 35 patients with coronary heart disease, 20 patients with essential hypertension, 28 patients with cerebral infarction and 30 controls. Results: Serum IL-6 levels in patients with coronary heart disease and cerebral infarction were significantly higher than those in the controls (P 0.05). Conclusion: Serum IL-6 levels changes could reflect the severity of the inflammatory process and would be helpful in clinical assessment. (authors)

  10. Cerebral hyperperfusion and decreased cerebrovascular reactivity correlate with neurologic disease severity in MELAS.

    Science.gov (United States)

    Rodan, L H; Poublanc, J; Fisher, J A; Sobczyk, O; Wong, T; Hlasny, E; Mikulis, D; Tein, I

    2015-05-01

    To study the mechanisms underlying stroke-like episodes (SLEs) in MELAS syndrome. We performed a case control study in 3 siblings with MELAS syndrome (m.3243A>G tRNA(Leu(UUR))) with variable % mutant mtDNA in blood (35 to 59%) to evaluate regional cerebral blood flow (CBF) and arterial cerebrovascular reactivity (CVR) compared to age- and sex-matched healthy study controls and a healthy control population. Subjects were studied at 3T MRI using arterial spin labeling (ASL) to measure CBF; CVR was measured as a change in % Blood Oxygen Level Dependent signal (as a surrogate of CBF) to repeated 10 mmHg step increase in arterial partial pressure of CO2 (PaCO2). MELAS siblings had decreased CVR (p ≤ 0.002) and increased CBF (p MELAS disease severity and mutation load were inversely correlated with Interictal CVR and directly correlated with frontal CBF. These metrics offer further insight into the cerebrovascular hemodynamics in MELAS syndrome and may serve as noninvasive prognostic markers to stratify risk for SLEs. Class III. Copyright © 2015 © Elsevier B.V. and Mitochondria Research Society. Published by Elsevier B.V. All rights reserved.

  11. Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection

    Directory of Open Access Journals (Sweden)

    Abeer E. Mustafa

    2018-05-01

    Full Text Available Quick and accurate molecular testing is necessary for the better management of many inherited diseases. Recent technological advances in various next generation sequencing (NGS platforms, such as target panel-based sequencing, has enabled comprehensive, quick, and precise interrogation of many genetic variations. As a result, these technologies have become a valuable tool for gene discovery and for clinical diagnostics. The AmpliSeq Inherited Disease Panel (IDP consists of 328 genes underlying more than 700 inherited diseases. Here, we aimed to assess the performance of the IDP as a sensitive and rapid comprehensive gene panel testing. A total of 88 patients with inherited diseases and causal mutations that were previously identified by Sanger sequencing were randomly selected for assessing the performance of the IDP. The IDP successfully detected 93.1% of the mutations in our validation cohort, achieving high overall gene coverage (98%. The sensitivity for detecting single nucleotide variants (SNVs and short Indels was 97.3% and 69.2%, respectively. IDP, when coupled with Ion Torrent Personal Genome Machine (PGM, delivers comprehensive and rapid sequencing for genes that are responsible for various inherited diseases. Our validation results suggest the suitability of this panel for use as a first-line screening test after applying the necessary clinical validation.

  12. Transient ischemic attack and minor stroke are the most common manifestations of acute cerebrovascular disease: a prospective, population-based study--the Aarhus TIA study.

    Science.gov (United States)

    von Weitzel-Mudersbach, Paul; Andersen, Grethe; Hundborg, Heidi H; Johnsen, Søren P

    2013-01-01

    Severity of acute vascular illness may have changed in the last decades due to improvements in primary and secondary prevention. Population-based data on the severity of acute ischemic cerebrovascular disease are sparse. We aimed to examine incidence, characteristics and severity of acute ischemic cerebrovascular disease in a well-defined population. All patients admitted with transient ischemic attack (TIA) or acute ischemic stroke from March 1, 2007, to February 29, 2008, with residence in the Aarhus area, were included. Incidence rates and characteristics of TIA and ischemic stroke were compared. TIA accounted for 30%, TIA and minor stroke combined for 65% of all acute ischemic cerebrovascular events. Age-adjusted incidence rates of TIA and ischemic stroke were 72.2/100,000 and 129.5/100,000 person-years, respectively. TIA patients were younger than stroke patients (66.3 vs. 72.7 years; p TIA and stroke patients share many characteristics; however, TIA patients are younger and have fewer manifestations of atherosclerotic diseases, indicating a high potential for secondary prevention. Copyright © 2012 S. Karger AG, Basel.

  13. Revascularization experience and results in ischaemic cerebrovascular disease: Moyamoya disease and carotid occlusion.

    Science.gov (United States)

    Arikan, Fuat; Rubiera, Marta; Serena, Joaquín; Rodríguez-Hernández, Ana; Gándara, Darío; Lorenzo-Bosquet, Carles; Tomasello, Alejandro; Chocrón, Ivette; Quintana-Corvalan, Maximiliano; Sahuquillo, Juan

    2018-03-14

    Cerebral revascularization techniques are an indispensable tool in the current armamentarium of vascular neurosurgeons. We present revascularization surgery experience and results in both moyamoya disease and occlusive cerebral ischaemia. Patients with ischaemic occlusive disease and moyamoya disease who underwent microsurgical revascularization between October 2014 and September 2017 were analysed. In the study period, 23 patients with occlusive ischaemic disease underwent microsurgical revascularization. Three patients presented with serious postoperative complications (2 intraparenchymal haemorrhages in the immediate postoperative period and one thrombosis of the femoral artery). All patients, except one, achieved normalization of the cerebral hemodynamic reserve (CHR) in the SPECT study. Twenty patients had a good neurological result, with no ischaemic recurrence of the revascularized territory. Among patients with moyamoya, 20 had moyamoya disease and 5 had moyamoya syndrome with unilateral involvement. Five patients were treated at paediatric age. Haemorrhagic onset occurred in 2 patients. The CHR study showed hemodynamic compromise in all patients. Cerebral SPECT at one year showed resolution of the hemodynamic failure in all patients. There have been 4 postoperative complications (acute subdural hematoma, two subdural collections and one dehiscence of the surgical wound). No patient presented with neurological worsening at 6 and 12months of follow-up. Cerebral revascularization through end-to-side anastomosis between the superficial temporal artery and a cortical branch of the middle cerebral artery is an indisputable technique in the treatment of moyamoya disease and possibly in a subgroup of patients with symptomatic occlusive ischaemic cerebrovascular disease. Copyright © 2018 Sociedad Española de Neurocirugía. Publicado por Elsevier España, S.L.U. All rights reserved.

  14. Moyamoya Disease – a Vasculopahty and an Uncommon Cause of Recurrent Cerebrovascular Accidents

    Directory of Open Access Journals (Sweden)

    Yasmin S Hamirani

    2008-09-01

    Full Text Available

    Moyamoya disease is a very rare chronic cerebrovascular disease of unknown etiology characterized by recurrent ischemic or hemorrhagic strokes. Initially diagnosed in Japan and named after finding puff of smoke like collateral blood vessels around the occluded blood vessels of circle of Willis. With increase awareness this disease is now diagnosed more often. Medical and surgical treatment have been used to treat the disease, with surgical treatment been mostly experimental. Special attention should be given to the surgical treatment which has shown to have an edge over the medical treatment in some clinical trials especially in young patients with recurrent strokes to prevent progressive cognitive decline and to improve their quality of life. In our patient, who is a young man, the diagnosis was picked up late and when surgical evaluation was performed, it was considered to be fruitless with findings of nonviable brain tissue on MRI imaging.

  15. Aspirin allergy desensitization in cerebrovascular disease. A report of two cases, literature review and management guide for the neurointerventionalist.

    Science.gov (United States)

    Zuckerman, Scott L; Seder, David B; Tsujiura, Crystiana; Cushing, Deborah; Gallup, Holly; Mocco, J; Hanel, Richard A; Ecker, Robert D

    2014-01-01

    Aspirin (ASA) is the mainstay of treatment in cerebrovascular and systemic vascular disease. ASA hypersensitivity can pose a challenge to achieving optimum medical management prior to and after neurointerventional treatment. Desensitization to ASA is well described in the allergy and cardiovascular literature, but there are no similar discussions specific to neurointervention. The purpose of our study was to describe our experience with ASA hypersensitivity management and review the relevant literature. Two cases of patients with symptomatic cerebrovascular disease requiring neurointervention who were successfully desensitized to their ASA hypersensitivity prior to treatment are described. The subsequent literature is reviewed. Several ASA desensitization protocols exist and have been proven to successfully treat ASA hypersensitivity and allow for ASA therapy to be safely initiated. We describe several previously published protocols. ASA desensitization is a safe and simple way to manage ASA hypersensitivity. We provide comprehensive management guidelines for the neurointerventionalist engaging in ASA desensitization.

  16. Computed tomographic evaluation in 8 patient of cerebrovascular moyamoya disease

    Energy Technology Data Exchange (ETDEWEB)

    Ko, Young Tae; Lee, Jung Suk; Suh, Soo Jhi; Kim, Soon Yong [School of Medicine, Kyung-Hee University Hospital, Seoul (Korea, Republic of)

    1980-12-15

    CT findings in eight cerebrovascular moyamoya disease were compared with carotid angiographic findings and the results were as follows: 1. The patient's age was ranged from 2 to 49 years. Of eight patients, five were less than 17 years old and the rests were two 23 years and one 49 years of age. 2. Except one 6 years old boy, all of them were female patients. 3. In precontrast CT scan of 8 cases, 6 cases of cortical atrophy, 6 cases of ventricular dilatation and 5 cases of low density area were observed. In postcontrast study the children group shows abnormal contrast enhancement in 3 out of 5 patients but all adult reveal no contrast enhancement. 4. The isodense area in CT were thought to represent good collateral manifested by angiographic moyamoya vascular network and leptomeningeal anastomosis while the low density area in CT appears to poor colleaterals manifested by transdural anastomosis. 5. To evaluate the possibility of this disease, carotid angiography should be performed to the hemiplgic child who shows multiple low density area and abnormal enhancement in CT scan. 6. CT is not only reliable for evaluation of ventricular hemorrhage but also brain damage in patients with moyamoya disease.

  17. CT findings of cerebrovascular diseases in patients with atrial fibrillation

    Energy Technology Data Exchange (ETDEWEB)

    Kubo, Hideki; Iwamoto, Toshihiko; Kanaya, Kiyoshi; Hanyu, Haruo; Yamaguchi, Katsuhiko; Katsunuma, Hideyo

    1988-02-01

    CT findings of cerebrovascular diseases were studied in 111 patients with atrial fibrillation (Af). One of these patients had cerebral hemorrhage, and another, subarachnoid hemorrhage, while the others all had cerebral infarctions. CT revealed 122 lesions with a low-density area (LDA) in 105 patients. Based on the cerebral artery territory, the 122 CT lesions were classified into the following 8 types: 10 hemispheric, 43 superficial, 23 deep, 28 superficial+deep, 1 anterior cerebral artery, 6 posterior cerebral artery, 10 watershed, and 1 vertebrobasilar. Therefore, infarctions of the internal carotid artery (ICA) system, including 94 infarctions of the middle cerebral artery territory, were most frequent, accounting for 94% of all lesions. The ratio of the left to the right infarctions of the ICA system was 1.1:1. However, it should be noted that non-embolic infarctions can occur even patients with Af.

  18. Impaired cerebrovascular function in coronary artery disease patients and recovery following cardiac rehabilitation.

    Directory of Open Access Journals (Sweden)

    Udunna C Anazodo

    2016-01-01

    Full Text Available Coronary artery disease (CAD poses a risk to the cerebrovascular function of older adults and has been linked to impaired cognitive abilities. Using magnetic resonance perfusion imaging, we investigated changes in resting cerebral blood flow (CBF and cerebrovascular reactivity (CVR to hypercapnia in 34 coronary artery disease (CAD patients and 21 age-matched controls. Gray matter volume images were acquired and used as a confounding variable to separate changes in structure from function. Compared to healthy controls, CAD patients demonstrated reduced CBF in the superior frontal, anterior cingulate, insular, pre- and post-central gyri, middle temporal and superior temporal regions. Subsequent analysis of these regions demonstrated decreased CVR in the anterior cingulate, insula, postcentral and superior frontal regions. Except in the superior frontal and precentral regions, regional reductions in CBF and CVR were identified in brain areas where no detectable reductions in gray matter volume were observed, demonstrating that these vascular changes were independent of brain atrophy. Because aerobic fitness training can improve brain function, potential changes in regional CBF were investigated in the CAD patients after completion of a 6-month exercise-based cardiac rehabilitation program. Increased CBF was observed in the bilateral anterior cingulate, as well as recovery of CBF in the dorsal aspect of the right anterior cingulate, where the magnitude of increased CBF was roughly equal to the reduction in CBF at baseline compared to controls. These exercise-related improvements in CBF in the anterior cingulate is intriguing given the role of this area in cognitive processing and regulation of cardiovascular autonomic control.

  19. Guanine holes are prominent targets for mutation in cancer and inherited disease.

    Directory of Open Access Journals (Sweden)

    Albino Bacolla

    Full Text Available Single base substitutions constitute the most frequent type of human gene mutation and are a leading cause of cancer and inherited disease. These alterations occur non-randomly in DNA, being strongly influenced by the local nucleotide sequence context. However, the molecular mechanisms underlying such sequence context-dependent mutagenesis are not fully understood. Using bioinformatics, computational and molecular modeling analyses, we have determined the frequencies of mutation at G • C bp in the context of all 64 5'-NGNN-3' motifs that contain the mutation at the second position. Twenty-four datasets were employed, comprising >530,000 somatic single base substitutions from 21 cancer genomes, >77,000 germline single-base substitutions causing or associated with human inherited disease and 16.7 million benign germline single-nucleotide variants. In several cancer types, the number of mutated motifs correlated both with the free energies of base stacking and the energies required for abstracting an electron from the target guanines (ionization potentials. Similar correlations were also evident for the pathological missense and nonsense germline mutations, but only when the target guanines were located on the non-transcribed DNA strand. Likewise, pathogenic splicing mutations predominantly affected positions in which a purine was located on the non-transcribed DNA strand. Novel candidate driver mutations and tissue-specific mutational patterns were also identified in the cancer datasets. We conclude that electron transfer reactions within the DNA molecule contribute to sequence context-dependent mutagenesis, involving both somatic driver and passenger mutations in cancer, as well as germline alterations causing or associated with inherited disease.

  20. Association between fish consumption, long chain omega 3 fatty acids, and risk of cerebrovascular disease: Systematic review and meta-analysis

    NARCIS (Netherlands)

    R. Chowdhury (Rajiv); S. Stevens (Sarah); D. Gorman (Donal); A. Pan (An); S. Warnakula (Samantha); S. Chowdhury (Susmita); H. Ward (Heather); L.A. Johnson (Laura); F. Crowe (Francesca); F.B. Hu (Frank); O.H. Franco (Oscar)

    2012-01-01

    textabstractObjective: To clarify associations of fish consumption and long chain omega 3 fatty acids with risk of cerebrovascular disease for primary and secondary prevention. Design: Systematic review and meta-analysis. Data sources: Studies published before September 2012 identified through

  1. Muertes por enfermedades cardiacas y accidentes cerebrovasculares prevenibles - (Preventable Deaths from Heart Disease and Stroke)

    Centers for Disease Control (CDC) Podcasts

    2013-09-03

    Este podcast se basa en la edición de septiembre del 2013 del informe Signos Vitales de los CDC. Más de 800,000 personas en los Estados Unidos mueren cada año a causa de enfermedades cardiacas y accidentes cerebrovasculares. Aprenda cómo controlar todos los principales factores de riesgo.  Created: 9/3/2013 by Centers for Disease Control and Prevention (CDC).   Date Released: 9/3/2013.

  2. [Approach of gene medical treatment in neurological diseases with the neurologist's. "Approach of support to the patients with inherited and incurable neurological diseases"].

    Science.gov (United States)

    Hazama, Takanori; Sawada, Jin-ichi; Toda, Tatsushi

    2009-11-01

    Advancements in medical genetics have increased access to genetic diagnosis in clinical neurology and accompanying genetic counseling. However, its use has not yet spread and the frequency of general biochemistry inspection in medical treatment and by patients remains low. Many problems remain for doctors, though sociocultural and other various causes exist. Thus, a network of care specialists for inherited and incurable neurological diseases has been established, consisting of multi-occupational categories in medical treatment, health, and welfare such as clinical inheritance specialists, psychiatrists, public health nurses, and medical social workers, to meet the rise in availability of such methods. Businesses in areas such as training, consultation, and field research have arisen. An educational campaign for neurologists who have taken a central role in treatment of inherited and incurable neurological diseases, and related information have been disseminated to those working in fields related to regional welfare of neurological medicine, and patients are now supported totally by team and regional counseling. These new developments in support systems for inherited and incurable neurological diseases, have steadily achieved the respective goals. We aim to promote its evolution to a more advanced network to promote the independence of individual patients in the future.

  3. The role of CT and cerebral angiography in the neurosurgical treatment of cerebrovascular diseases and their sequels

    International Nuclear Information System (INIS)

    Bock, W.J.

    1979-01-01

    It is found that for cerebro-vascular diseases which can be surgically treated, neither angiography nor CT alone yields sufficient information. Only a combination of the two methods can help to reach a clear decision; CT is better suited for course control while angiography helps to make a diagnosis and to decide upon the best surgical treatment. (orig./AJ) [de

  4. Prevalência e padrão de distribuição das doenças cerebrovasculares em 242 idosos, procedentes de um hospital geral, necropsiados em Belo Horizonte, Minas Gerais, no período de 1976 a 1997 Prevalence and types of cerebrovascular diseases in 242 hospitalized elderly patients, autopsied in Belo Horizonte, Minas Gerais, Brazil, from 1976 to 1997

    Directory of Open Access Journals (Sweden)

    José Eymard H. Pittella

    2002-03-01

    Full Text Available OBJETIVO: Descrever a prevalência e os tipos das doenças cerebrovasculares (DCVs em indivíduos idosos necropsiados. MÉTODO: Foram consultados os laudos neuropatológicos de 242 pacientes com idade igual ou superior a 61 anos, procedentes em sua maioria do Hospital das Clínicas da Universidade Federal de Minas Gerais, em Belo Horizonte, Minas Gerais, e necropsiados consecutivamente no período 1976 a 1997. RESULTADO: Os principais grupos de doenças do sistema nervoso central (SNC foram representados por DCVs (71,9%, infecções (12,4%, neoplasias (7,1%, traumatismos crânio-encefálicos (3,7%, doenças nutricionais (2,5% e doenças degenerativas (1,7%. As DCVs mais frequentes foram: aterosclerose (61,2%, doença cerebrovascular hipertensiva (25,6% e infarto cerebral (14,9%. Observou-se aumento da frequência e da gravidade da aterosclerose e da frequência da doença cerebrovascular hipertensiva com o avançar da idade. Houve associação significativa entre doença cerebrovascular hipertensiva e aterosclerose. As DCVs foram clinicamente sintomáticas e as responsáveis diretas pelo óbito em 42,7% e 17,3% dos pacientes, respectivamente. CONCLUSÃO: As DCVs constituíram o principal grupo de doenças do SNC no idoso. A aterosclerose e a doença cerebrovascular hipertensiva foram as principais doenças deste grupo, notando-se aumento de sua frequência com o avançar da idade e associação significativa entre ambas.OBJECTIVE: To describe the prevalence and the types of cerebrovascular diseases (CVDs in autopsied elderly individuals. METHOD: Consecutive clinical charts and neuropathological reports of 242 patients aged 61 years or older were reviewed. The patients died in Hospital das Clínicas, Federal University of Minas Gerais, in Belo Horizonte, Minas Gerais, Brazil, from 1976 to 1997. RESULTS: The prevalent diseases of the central nervous system (CNS found in decreasing order were: CVDs (71.9%, infections (12.4%, neoplasms (7.1%, head

  5. Oral health- related quality of life in patients with rare inherited diseases affecting bone and teeth

    DEFF Research Database (Denmark)

    Gjørup, Hans; Haubek, Dorte

    Background X-linked hypophosphatemia (XLH) is a rare hereditary disease characterized by insufficient bone mineralization. Osteogenesis imperfecta (OI) is another rare inherited disease characterized by fragile bones because of defective collagen synthesis. Both diseases may have impact on teeth...

  6. Social Cognition Deficits: Current Position and Future Directions for Neuropsychological Interventions in Cerebrovascular Disease

    Directory of Open Access Journals (Sweden)

    Progress Njomboro

    2017-01-01

    Full Text Available Neuropsychological assessments of cognitive dysfunction in cerebrovascular illness commonly target basic cognitive functions involving aspects of memory, attention, language, praxis, and number processing. Here, I highlight the clinical importance of often-neglected social cognition functions. These functions recruit a widely distributed neural network, making them vulnerable in most cerebrovascular diseases. Sociocognitive deficits underlie most of the problematic social conduct observed in patients and are associated with more negative clinical outcomes (compared to nonsocial cognitive deficits. In clinical settings, social cognition deficits are normally gleaned from collateral information from caregivers or from indirect inferences made from patients’ performance on standard nonsocial cognitive tests. Information from these sources is however inadequate. I discuss key social cognition functions, focusing initially on deficits in emotion perception and theory of mind, two areas that have gained sizeable attention in neuroscientific research, and then extend the discussion into relatively new, less covered but crucial functions involving empathic behaviour, social awareness, social judgements, and social decision making. These functions are frequently impaired following neurological change. At present, a wide range of psychometrically robust social cognition tests is available, and this review also makes the case for their inclusion in neuropsychological assessments.

  7. Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry.

    Science.gov (United States)

    Han, Lianshu; Han, Feng; Ye, Jun; Qiu, Wenjuan; Zhang, Huiwen; Gao, Xiaolan; Wang, Yu; Ji, Wenjun; Gu, Xuefan

    2015-03-01

    Information concerning inherited metabolic diseases in China is scarce. We investigated the prevalence and age distributions of amino acid, organic acid, and fatty acid oxidation disorders in Chinese patients. Blood levels of amino acids and acylcarnitines (tandem mass spectrometry) were measured in 18,303 patients with suspected inherited metabolic diseases. Diagnosis was based on clinical features, blood levels of amino acids or acylcarnitines, urinary organic acid levels (gas chromatography-mass spectrometry), and (in some) gene mutation tests. Inherited metabolic diseases were confirmed in 1,135 patients (739 males, 396 females). Median age was 12 months (1 day to 59 years). There were 28 diseases: 12 amino acid disorders (580 patients, 51.1%), with hyperphenylalaninemia (HPA) being the most common; nine organic acidemias (408 patients, 35.9%), with methylmalonic acidemia (MMA) as the most common; and seven fatty acid oxidation defects (147 patients, 13.0%), with multiple acyl-coenzyme A dehydrogenase deficiency (MADD) being the most common. Onset was mainly at 1-6 months for citrin deficiency, 0-6 months for MMA, and in newborns for ornithine transcarbamylase deficiency (OTCD). HPA was common in patients aged 1-3 years, and MADD was common in patients >18 years. In China, HPA, citrin deficiency, MMA, and MADD are the most common inherited disorders, particularly in newborns/infants. © 2014 Wiley Periodicals, Inc.

  8. CT findings of cerebrovascular diseases in patients with atrial fibrillation

    International Nuclear Information System (INIS)

    Kubo, Hideki; Iwamoto, Toshihiko; Kanaya, Kiyoshi; Hanyu, Haruo; Yamaguchi, Katsuhiko; Katsunuma, Hideyo

    1988-01-01

    CT findings of cerebrovascular diseases were studied in 111 patients with atrial fibrillation (Af). One of these patients had cerebral hemorrhage, and another, subarachnoid hemorrhage, while the others all had cerebral infarctions. CT revealed 122 lesions with a low-density area (LDA) in 105 patients. Based on the cerebral artery territory, the 122 CT lesions were classified into the following 8 types: 10 hemispheric, 43 superficial, 23 deep, 28 superficial+deep, 1 anterior cerebral artery, 6 posterior cerebral artery, 10 watershed, and 1 vertebrobasilar. Therefore, infarctions of the internal carotid artery (ICA) system, including 94 infarctions of the middle cerebral artery territory, were most frequent, accounting for 94% of all lesions. The ratio of the left to the right infarctions of the ICA system was 1.1:1. However, it should be noted that non-embolic infarctions can occur even patients with Af. (author)

  9. The hidden Niemann-Pick type C patient : Clinical niches for a rare inherited metabolic disease

    NARCIS (Netherlands)

    Hendriksz, Christian J.; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J.; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Kluenemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Bergh, Florian Then; Topcu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A.

    2017-01-01

    Background: Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to

  10. Possibilities of using naftidrofuryl in the therapy of cerebrovascular diseases: Literature review and the authors’ observations

    Directory of Open Access Journals (Sweden)

    A. N. Belova

    2015-01-01

    Full Text Available The efficacy of naftidrofuryl in treating cerebrovascular diseases is analyzed on the basis of a review of the Russian and foreign literature. Naftidrofuryl is a seroton 5-HT2 receptor antagonist and acts on brain energy metabolism mainly during hypoxia or ischemia. The results of preclinical studies proving the antispasmodic and neuroprotective properties of the drug and its capacity to normalize microcirculation in hypoxia are briefly considered. Experimental findings served as a basis for further studies of the efficacy of naftidrofuryl in patients with stroke, chronic cerebral ischemia, or vascular dementia. The use of naftidrofuryl (dusopharm was demonstrated to statistically significantly enhance the efficiency of rehabilitation in post-stroke patients and to be followed by significant psychoemotional improvement. According to a Cochrane review, the naftidrofuryl-treated patients with vascular dementia showed a tendency towards better executive and cognitive functions, behavior, and mood. The drug was noted to have a positive effect on the health of patients with chronic cerebral ischemia.The authors provide the data of their trial of naftidrofuryl used in patients with dyscirculatory encephalopathy, which have confirmed its efficacy in this category of patients. The data available in the literature suggest that oral naftidrofuryl has a good tolerability and safety profile in patients with cerebrovascular diseases.

  11. Microbubbles as drug delivery systems in cerebrovascular diseases.

    Science.gov (United States)

    Spinelli, Mariacarmela; Demitri, Christian; Sannino, Alessandro; Peruzzotti-Jametti, Luca; Bacigaluppi, Marco; Comi, Giancarlo; Corea, Francesco

    2009-11-01

    The field of neurovascular ultrasound is growing rapidly with new applications. While ultrasound contrast agents were initially used to overcome poor transcranial bone windows for identification of cerebral arteries, newgeneration microbubbles in combination with innovative contrast-specific ultrasound techniques now enable potential therapeutic procedures. This article will provide a review of recent and emerging developments along with patents in ultrasound technology and contrast-specific therapeutic techniques for cerebrovascular patients.

  12. Prolongation of bleeding time and inhibition of platelet aggregation by low-dose acetylsalicylic acid in patients with cerebrovascular disease

    DEFF Research Database (Denmark)

    Boysen, G; Boss, A H; Ødum, Niels

    1984-01-01

    the bleeding time averaged 11.2 minutes in contrast to 7.0 minutes in the placebo group, p less than 0.001. This study confirms our previous findings of platelet inhibition by low-dose acetylsalicylic acid in patients with cerebrovascular disease. The prolongation of the bleeding time demonstrates that we......Platelet aggregation and bleeding time was measured in 43 cerebrovascular patients participating in a controlled double-blind study of low-dose acetylsalicylic acid. In 19 patients with satisfactory inhibition of the platelet aggregation obtained by 50 to 70 mg acetylsalicylic acid per day...... are dealing not merely with an in vitro phenomenon but with a significant in vivo effect. The study provides the rationale for clinical evaluations of low-dose acetylsalicylic acid in stroke prophylaxis....

  13. Specific plasma oxylipins increase the odds of cardiovascular and cerebrovascular events in patients with peripheral artery disease.

    Science.gov (United States)

    Caligiuri, Stephanie P B; Aukema, Harold M; Ravandi, Amir; Lavallée, Renée; Guzman, Randy; Pierce, Grant N

    2017-08-01

    Oxylipins and fatty acids may be novel therapeutic targets for cardiovascular disease. The objective was to determine if plasma oxylipins or fatty acids can influence the odds of cardiovascular/cerebrovascular events. In 98 patients (25 female, 73 male) with peripheral artery disease, the prevalence of transient ischemic attacks, cerebrovascular accidents, stable angina, and acute coronary syndrome was n = 16, 10, 16, and 24, respectively. Risk factors such as being male, diagnosed hypertension, diabetes mellitus, and hyperlipidemia were not associated with events. Plasma fatty acids and oxylipins were analyzed with gas chromatography and HPLC-MS/MS, respectively. None of 24 fatty acids quantified were associated with events. In contrast, 39 plasma oxylipins were quantified, and 8 were significantly associated with events. These 8 oxylipins are known regulators of vascular tone. For example, every 1 unit increase in Thromboxane B 2 /Prostaglandin F 1 α and every 1 nmol/L increase in plasma 16-hydroxyeicosatetraenoic acid, thromboxane B2, or 11,12-dihydroxyeicosatrienoic acid (DiHETrE) increased the odds of having had ≥2 events versus no event (p < 0.05). The greatest predictor was plasma 8,9-DiHETrE, which increased the odds of acute coronary syndrome by 92-fold. In conclusion, specific oxylipins were highly associated with clinical events and may represent specific biomarkers and (or) therapeutic targets of cardiovascular disease.

  14. Dynamic computed tomography for the evaluation of cerebrovascular disease

    Energy Technology Data Exchange (ETDEWEB)

    Terada, Tomoaki; Nishiguchi, Takashi; Hyotani, Genhachi; Miyamoto, Kazuki; Hayashi, Seiji; Komai, Norihiko [Wakayama Medical Coll. (Japan); Nakamura, Yoshinari; Moriwaki, Hiroshi

    1991-10-01

    Dynamic computed tomography (DCT) was evaluated as a diagnostic indicator for chronic supratentorial ischemia in 50 cases with or without minor neurological deficits. Peak height (PH, the maximum value of the gamma fitted curve), peak time (PT, the time to PH from the start of DCT), transit time (TT, the time between the first and second inflection points of the gamma fitted curve), and their functional maps were analyzed. Cerebral angiography was then performed in all cases to identify stenotic or occlusive vascular lesions in major cerebral arteries. DCT clearly detected 12 of 13 occlusions of the internal carotid artery (ICA) or middle cerebral artery (MCA), although one ICA occlusion was masked by the contralateral MCA occlusion. However, DCT detected only severe ICA or MCA stenosis (more than 90%). Probably, stenotic lesions of less than 90% did not cause detectable hemodynamic compromise. DCT using PH, PT, and TT functional maps is a useful diagnostic method for hemodynamic changes in ischemic cerebrovascular disease, althogh bilateral lesions and less stenotic lesions (<90%) are difficult to detect. (author).

  15. The anatomy and pathophysiology of extracranial atherosclerotic cerebrovascular disease

    International Nuclear Information System (INIS)

    O'Connor, R.A.J.

    1984-01-01

    The brain is supplied by two pairs of arteries, the large carotid arteries anteriorly and the vertebral arteries (so called because they are so close to the vertebral column) posteriorly. All four arteries enter the skull at the base of the brain and are connected in the arterial circle of Willis, a unique safety device that permits arterial blood to cross from one side to the other, in case of need, or from front to back or back to front. When one inflow artery is narrowed or occluded, flow increases via other inflow arteries to maintain pressure and flow within the circle. This collateral circulation is also assisted by inflow to the circle through the orbit. When needed, arterial blood reaches the circle of Willis from the face by traversing the orbit in reverse direction. In unusual circumstances, blood in the circle of Willis can leave the brain and flow down the vertebral artery-the so-called ''vertebral steal.'' The authors provide a detailed description of the anatomy, particularly as it affects the signs, symptoms, and noninvasive diagnosis of cerebrovascular disease

  16. A Dutch family with autosomal recessively inherited lower motor neuron predominant motor neuron disease due to optineurin mutations

    NARCIS (Netherlands)

    Beeldman, Emma; van der Kooi, Anneke J.; de Visser, Marianne; van Maarle, Merel C.; van Ruissen, Fred; Baas, Frank

    2015-01-01

    Approximately 10% of motor neuron disease (MND) patients report a familial predisposition for MND. Autosomal recessively inherited MND is less common and is most often caused by mutations in the superoxide dismutase 1 (SOD1) gene. In 2010, autosomal recessively inherited mutations in the optineurin

  17. Choline and its metabolites are differently associated with cardiometabolic risk factors, cardiovascular history and MRI documented cerebrovascular disease in older adults

    Science.gov (United States)

    Background: There is a potential role of choline in cardiovascular and cerebrovascular disease through its involvement in lipid and one-carbon metabolism. Objective: We evaluated the associations of plasma choline and choline-related compounds with cardiometabolic risk factors, history of cardiovas...

  18. Hospital descrlptlve epidemiology of cerebrovascular disorders in G. Almenara 1. Natlonal Hospital

    OpenAIRE

    Deza, Luis; Aldave, Raquel; Concha, Gina; Salazar, Luis; Carmona, Jorge; Castillo, Marco

    2014-01-01

    We present an epidemiological approach of a two years clinical observation study of a cohort of 208 admissions with cerebrovascular disease. This report represents part of a wider project intended to clarify the natural history of cerebrovascular diseases in Peru. We found a 70.7% of occlusions or stenosis, a 26.9% of intracerebral hemorrhages, a 1.9% of subarachnoid hemorrhage and a 0.5% of other unspecified. A mean age of onset of 62.2 years, with a very large range, probably with a later a...

  19. Association Between Inflammatory Skin Disease and Cardiovascular and Cerebrovascular Co-Morbidities in US Adults: Analysis of Nationwide Inpatient Sample Data.

    Science.gov (United States)

    Kwa, Michael C; Silverberg, Jonathan I

    2017-12-01

    Psoriasis, atopic dermatitis or eczema (AD-E), pemphigus, bullous pemphigoid (BP), and hidradenitis are chronic inflammatory skin disorders associated with systemic immune activation, considerable symptom burden, stigma, functional disturbances, and mental health symptoms. All of these might increase cardiovascular risk. The objective of this study was to determine whether these inflammatory skin diseases are associated with increased cardiovascular/cerebrovascular risk and/or disease. We analyzed data from the 2002-2012 National Inpatient Sample, including a representative 20% sample of all US hospitalizations (n = 72,108,077 adults). In multivariate logistic regression models with propensity score matching, patients hospitalized with versus without a diagnosis the inflammatory skin diseases examined had higher odds of obesity (odds ratio [95% confidence interval] for pemphigus: 1.16 [1.05-1.29]; BP 1.14 [1.06-1.23]; AD-E: 1.82 [1.79-1.86]; psoriasis: 2.36 [2.32-2.41]; hidradenitis: 2.79 [2.59-3.01]). Inflammatory skin disease was also associated with significantly higher odds of different cardiovascular risk factors, including hypertension (pemphigus: 1.39 [1.31-1.48]; BP 1.96 [1.88-2.05]; AD-E: 1.19 [1.17-1.21]; psoriasis: 1.61 [1.59-1.64]), and diabetes mellitus with complications (pemphigus: 1.34 [1.18-1.52]; BP: 2.06 [1.90-2.24]; AD-E: 1.13 [1.10-1.17]; psoriasis: 1.39 [1.35-1.44]), as well as vascular, cardiovascular, and cerebrovascular disease, including peripheral vascular disease (pemphigus: 1.14 [1.00-1.30]; BP: 1.83 [1.69-1.98]; AD-E: 1.18 [1.14-1.22]; psoriasis: 1.32 [1.28-1.35]), peripheral and visceral atherosclerosis (BP: 1.67 [1.53-1.81]; AD-E: 1.16 [1.12-1.20]; psoriasis: 1.27 [1.24-1.30]), pulmonary circulation disorders (pemphigus: 1.67 [1.39-2.01]; BP: 2.17 [1.92-2.45]; AD-E: 1.39 [1.33-1.45]; psoriasis: 1.37 [1.31-1.43]), congestive heart failure (pemphigus: 1.75 [1.60-1.90]; BP: 2.82 [2.68-2.98]; AD-E: 1.10 [1.07-1.13]; psoriasis: 1.05 [1

  20. [Sleep disorders in the structure of cerebrovascular diseases].

    Science.gov (United States)

    Iakupov, É Z; Aleksandrova, E A; Troshina, Iu V; Shebasheva, E V; Shagiakhmetova, L Ia

    2014-01-01

    The literature on the place and role of insomnia in cerebral blood circulation disturbances is reviewed. It is emphasized that insomnia is a modifying risk factor of cerebrovascular pathology. The syndrome of obstructive sleep apnea may be a cause of arterial hypertension. The diagnostic relevance of the complex examination of patients with sleep pathology, including polysomnographic technology, and its role in the choice of corrective measures and treatment of insomnia in whole are shown.

  1. Favorable circulatory system outcomes as adjuvant traditional Chinese medicine (TCM treatment for cerebrovascular diseases in Taiwan.

    Directory of Open Access Journals (Sweden)

    Hsienhsueh Elley Chiu

    Full Text Available This study searches the National Health Insurance Research Database (NHIRD used in a previous project, aiming for reconstructing possible cerebrovascular disease-related groups (DRG,and estimating the costs between cerebrovascular disease and related diseases.We conducted a nationwide retrospective cohort study in stroke inpatients, we examined the overall costs in 3 municipalities in Taiwan, by evaluating the possible costs of the expecting diagnosis related group (DRG by using the international classification of diseases version-9 (ICD-9 system, and the overall analysis of the re-admission population that received traditional Chinese medicine (TCM treatment and those who did not.The trend demonstrated that the non-participant costs were consistent with the ICD-9 categories (430 to 437 because similarities existed between years 2006 to 2007. Among the TCM patients, a wide variation and additional costs were found compared to non-TCM patients during these 2 years. The average re-admission duration was significantly shorter for TCM patients, especially those initially diagnosed with ICD 434 during the first admission. In addition, TCM patients demonstrated more severe general symptoms, which incurred high conventional treatment costs, and could result in re-admission for numerous reasons. However, in Disease 7 of ICD-9 category, representing the circulatory system was most prevalent in non-TCM inpatients, which was the leading cause of re-admission.We concluded that favorable circulatory system outcomes were in adjuvant TCM treatment inpatients, there were less re-admission for circulatory system events and a two-third reduction of re-admission within ICD-9 code 430 to 437, compared to non-TCM ones. However, there were shorter re-admission duration other than circulatory system events by means of unfavorable baseline condition.

  2. Who's your daddy?: paternal inheritance of metabolic disease risk.

    Science.gov (United States)

    Isganaitis, Elvira; Suehiro, Harumi; Cardona, Connie

    2017-02-01

    Although the importance of optimizing mothers' health prior to conception and during pregnancy is now well accepted, recent data also implicate health and nutritional status of fathers as contributors to chronic disease risk in their progeny. This brief review will highlight recent epidemiological and experimental studies linking paternal overnutrition, undernutrition, and other forms of stress, to metabolic disease in the offspring. The past 2 years have brought tremendous insights into the mechanisms by which paternal exposures can contribute to disease susceptibility in the next generation. Recent data, both from humans and experimental models, demonstrate that paternal obesity and undernutrition result in epigenetic reprogramming of male germ cells, notably altered DNA methylation, histone retention, and expression of small noncoding RNAs and transfer RNA fragments. Novel mechanisms have also been identified, such as epididymal transport vesicles, seminal fluid hormones and metabolites, and a unique seminal fluid microbiome. Paternal nutritional and other perturbations are linked to risk of metabolic disease and obesity in offspring. Germ cell-dependent mechanisms have recently been linked to these intergenerational effects. Nongenetic, paternal inheritance of chronic disease has important implications for public health, and may provide novel opportunities for multigenerational disease prevention.

  3. Data mining and Pattern Recognizing Models for Identifying Inherited Diseases: Challenges and Implications

    OpenAIRE

    Lahiru Iddamalgoda; Partha Sarathi Das; Partha Sarathi Das; Achala Aponso; Vijayaraghava Seshadri Sundararajan; Prashanth Suravajhala; Prashanth Suravajhala; Prashanth Suravajhala; Jayaraman K Valadi

    2016-01-01

    Data mining and pattern recognition methods reveal interesting findings in genetic studies, especially on how genetic makeup is associated with inherited diseases. Although researchers have proposed various data mining models for biomedical approaches, there remains a challenge in accurately determining the responsible genetic factors for prioritizing the single nucleotide polymorphisms (SNP) associated with the disease. In this commentary, we review the state-of-art data mining and pattern r...

  4. Cognitive performance correlates with cerebrovascular impairments in multi-infarct dementia

    International Nuclear Information System (INIS)

    Judd, B.W.; Meyer, J.S.; Rogers, R.L.; Gandhi, S.; Tanahashi, N.; Mortel, K.F.; Tawaklna, T.

    1986-01-01

    Cerebral blood flow (CBF) was measured by the 133 Xe inhalation method in patients with multi-infarct dementia (MID, N = 26), Alzheimer's dementia (AD, N = 19), and among age-matched, neurologically normal, healthy volunteers (N = 26). Cognitive performance was assessed in all subjects using the Cognitive Capacity Screening Examination (CCSE). Cerebral vasomotor responses were calculated from differences in values of mean hemispheric gray matter blood flow (Delta CBF) measured during inhalation of 100% oxygen (hyperoxia) compared with CBF measured while breathing room air. Significant correlations were found between CCSE performance and vasomotor responsiveness in patients with MID (P less than .01), but not in patients with AD or in neurologically normal volunteers. Loss of vasomotor responsiveness is an indicator of cerebrovascular disease with rigidity and/or loss of reactivity of cerebral vessels, which impairs cerebrovascular responses to situational demands and predisposes to cerebral ischemia. Loss of cerebral vasomotor responsiveness among MID patients, which is a biologic marker of cerebrovascular disease, provides confirmatory evidence of the vascular etiology of MID and assists in separating MID from AD patients

  5. Colour Doppler evaluation of extracranial carotid artery in patients presenting with features of cerebrovascular disease: A clinical and radiological correlation

    Directory of Open Access Journals (Sweden)

    Sanjeev Sehrawat

    2012-01-01

    Full Text Available Aim: To evaluate the morphological and hemodynamic changes that take place in carotid arteries by colour Doppler in patients presenting with features of stroke. Background and Objectives: Cerebrovascular accidents constitute a major cause of adult mortality. The principal indication for cerebrovascular Doppler examination is stroke prevention. Colour Doppler sonography is a sensitive method for detection of atherosclerotic plaque and provides considerable information about the extent and severity of plaque as well as the resulting diminution of arterial lumen. The main strengths of sonography of carotid arteries are patient comfort, lack of risk and accuracy in detecting carotid stenosis. Material and Methods: A prospective study of Colour Doppler in carotid arteries was carried out for 12 months from 1 st July 2009 to 1 st July 2010. The study was carried out on 40 individuals, suspected of cerebrovascular insufficiency and having one or the other risk factors for cerebrovascular disease. A detailed clinical history, CNS examination findings and evidence of hypertension, diabetes mellitus, hyperlipidemia and ischemic heart disease were noted. Carotid Doppler evaluation was done by using Siemens Antares Ultrasound system. The data gathered were grey scale and Doppler findings of common carotid artery, internal carotid artery and external carotid arteries. Doppler findings were correlated with clinical features and risk factors. Results: In our study of 40 patients, the commonest lesion found was the atherosclerotic plaque. Highest incidence of plaque was seen in males 41% in the age group of 60-70 years and in females 37% in age group of 70-80 years. Cigarette smoking was the most common risk factor (60% associated with stroke/ Transient Ischaemic Attacks (TIA. Hemiparesis was the most common presenting symptom (35% among the symptomatic cases. Atheromatous plaque was most commonly found in the right carotid system (60%. Most common site for

  6. Clarithromycin for stable coronary heart disease increases all-cause and cardiovascular mortality and cerebrovascular morbidity over 10years in the CLARICOR randomised, blinded clinical trial

    DEFF Research Database (Denmark)

    Winkel, Per; Hilden, Jørgen; Hansen, Jørgen Fischer

    2015-01-01

    -cause mortality (hazard ratio (HR): 1.10, 95% confidence interval (CI): 1.00-1.21) and cerebrovascular disease during 10years (HR: 1.19, 95% CI: 1.02-1.38). The increased mortality and morbidity were restricted to patients not on statin at entry (HR: 1.16, 95% CI: 1.04-1.31, and HR: 1.25, 95% CI: 1...... death outside hospital and cerebrovascular morbidity in patients with stable coronary heart disease who were not on statin. The increased cardiovascular mortality was years later compensated, likely through frailty attrition.......BACKGROUND: The CLARICOR trial reported that clarithromycin compared with placebo increased all-cause mortality in patients with stable coronary heart disease. This study investigates the effects of clarithromycin versus placebo during 10years follow up. METHODS: The CLARICOR trial is a randomised...

  7. Dietary Curcumin Ameliorates Aging-Related Cerebrovascular Dysfunction through the AMPK/Uncoupling Protein 2 Pathway

    Directory of Open Access Journals (Sweden)

    Yunfei Pu

    2013-11-01

    Full Text Available Background/Aims: Age-related cerebrovascular dysfunction contributes to stroke, cerebral amyloid angiopathy, cognitive decline and neurodegenerative diseases. One pathogenic mechanism underlying this effect is increased oxidative stress. Up-regulation of mitochondrial uncoupling protein 2 (UCP2 plays a crucial role in regulating reactive oxygen species (ROS production. Dietary patterns are widely recognized as contributors to cardiovascular and cerebrovascular disease. In this study, we tested the hypothesis that dietary curcumin, which has an antioxidant effect, can improve aging-related cerebrovascular dysfunction via UCP2 up-regulation. Methods: The 24-month-old male rodents used in this study, including male Sprague Dawley (SD rats and UCP2 knockout (UCP2-/- and matched wild type mice, were given dietary curcumin (0.2%. The young control rodents were 6-month-old. Rodent cerebral artery vasorelaxation was detected by wire myograph. The AMPK/UCP2 pathway and p-eNOS in cerebrovascular and endothelial cells were observed by immunoblotting. Results: Dietary curcumin administration for one month remarkably restored the impaired cerebrovascular endothelium-dependent vasorelaxation in aging SD rats. In cerebral arteries from aging SD rats and cultured endothelial cells, curcumin promoted eNOS and AMPK phosphorylation, up-regulated UCP2 and reduced ROS production. These effects of curcumin were abolished by either AMPK or UCP2 inhibition. Chronic dietary curcumin significantly reduced ROS production and improved cerebrovascular endothelium-dependent relaxation in aging wild type mice but not in aging UCP2-/- mice. Conclusions: Curcumin improves aging-related cerebrovascular dysfunction via the AMPK/UCP2 pathway.

  8. Inherited Retinal Degenerative Clinical Trial Network. Addendum

    Science.gov (United States)

    2013-10-01

    inherited orphan retinal degenerative diseases and dry age-related macular degeneration (AMD) through the conduct of clinical trials and other...design and conduct of effective and efficient clinical trials for inherited orphan retinal degenerative diseases and dry AMD; • Limited number and...linica l trial in the NEER network for autosomal dominant retinitis pigmentosa, and the ProgSTAR studies for Stargardt disease ) . As new interventions b

  9. Tomografía axial computarizada en pacientes con enfermedades cerebrovasculares hemorrágicas Computerized axial tomography in patients with hemorrhagic cerebrovascular diseases

    Directory of Open Access Journals (Sweden)

    Solángel Bolaños Vaillant

    2009-10-01

    Full Text Available Se efectuó un estudio descriptivo y transversal de 196 pacientes con enfermedad cerebrovascular hemorrágica, que abarcó desde enero del 2004 hasta igual mes del 2005 en el Hospital Provincial Docente “Saturnino Lora” de Santiago de Cuba, a los cuales se indicó una tomografía axial computarizada. Al relacionar las imágenes tomográficas con los síntomas y signos presentados por los enfermos, se halló lenguaje tropeloso en todos ellos; predominio de hematomas intraparenquimatosos, generalmente en ganglios basales y región temporal, así como primacía de la hipertensión arterial entre los antecedentes patológicos más importantes. Se concluyó que la tomografía axial computarizada es un medio para diagnóstico certero en las urgencias médicas por esa grave afección.A descriptive and cross sectional study of 196 patients with cerebrovascular hemorrhagic disease was carried out from January, 2004 to the same month of 2005 in "Saturnino Lora" Teaching Provincial Hospital from Santiago de Cuba, to whom a computerized axial tomography was indicated. When relating the tomographic images with the symptoms and signs which they presented, trouble speaking was detected in all of them; prevalence of intraparenchymatous hematomas, generally in basal ganglia and temporal region, as well as prevalence of hypertension among the most important pathological history. It was concluded that computarized axial tomography is a mean for precise diagnosis in medical emergencies due to that serious disorder.

  10. Alzheimer biomarkers and clinical Alzheimer disease were not associated with increased cerebrovascular disease in a memory clinic population.

    Science.gov (United States)

    Spies, Petra E; Verbeek, Marcel M; Sjogren, Magnus J C; de Leeuw, Frank-Erik; Claassen, Jurgen A H R

    2014-01-01

    Preclinical and post-mortem studies suggest that Alzheimer disease (AD) causes cerebrovascular dysfunction, and therefore may enhance susceptibility to cerebrovascular disease (CVD). The objective of this study was to investigate this association in a memory clinic population. The AD biomarkers CSF amyloid β42, amyloid β40 and APOE-ε4 status have all been linked to increased CVD risk in AD, and therefore the first aim of this study was to analyze the association between these biomarkers and CVD. In 92 memory clinic patients the cross-sectional association between AD biomarkersand the severity of CVD was investigated with linear regression analysis. Additionally, we studied whether AD biomarkers modified the relation between vascular risk factors and CVD. CVD was assessed on MRI through a visual rating scale.Analyses were adjusted for age. The second aim of this study was to investigate the association between clinical AD and CVD, where 'clinical AD' was defined as follows: impairment in episodic memory, hippocampal atrophy and an aberrant concentration of cerebrospinal fluid (CSF) biomarkers. 47 of the 92 patients had AD. No association between CSF amyloid β42, amyloid β40 or APOE-ε4 status and CVD severity was found, nor did these AD biomarkers modify the relation between vascular risk factors and CVD. Clinical AD was not associated with CVD severity (p=0.83). Patients with more vascular risk factors had more CVD, but this relationship was not convincingly modified by AD (p=0.06). In this memory clinic population, CVD in patients with AD was related to vascular risk factors and age, comparable to patients without AD. Therefore, in our study, the preclinical and post-mortem evidence that AD would predispose to CVD could not be translated clinically. Further work, including replication of this work in a different and larger sample, is warranted.

  11. Recent advances in measuring cerebral blood flow and metabolism in human aging, cerebrovascular disease, dementia, sleep and the epilepsies

    International Nuclear Information System (INIS)

    Meyer, J.S.; Baylor Univ., Houston, TX

    1986-01-01

    The 133 Xe inhalation method, positron emission tomography (PET) scanning, X-ray transmission tomography by inhalation of 37.5% stable xenon gas during CT scanning, and nuclear magnetic resonance (NMR) techniques contributions to knowledge of normal aging, cerebrovascular disorders, the dementias, Parkinson's disease, epilepsy, normal and abnormal sleep, migraine and cluster headache are summarized. 62 refs.; 4 figs.; 2 tabs

  12. Bilateral cerebrovascular accidents in incontinentia pigmenti.

    Science.gov (United States)

    Fiorillo, Loretta; Sinclair, D Barry; O'Byrne, Mary L; Krol, Alfons L

    2003-07-01

    Incontinentia Pigmenti is an X-linked dominant neurocutaneous disorder with central nervous system manifestations in 30% of cases, including seizures and mental retardation. Ischemic or hemorrhagic cerebrovascular accidents have been reported rarely in incontinentia pigmenti. Chart review and literature search was performed following identification of the index case. We describe a patient with incontinentia pigmenti who developed bilateral cerebrovascular accidents in the neonatal period, with resultant severe neurologic sequelae. This is the second reported case of bilateral cerebrovascular accidents in a patient with incontinentia pigmenti. This finding may be secondary to cerebrovascular anomalies, similar to those observed in the retina. Recognition of cerebrovascular accidents as a complication of incontinentia pigmenti will hopefully lead to earlier recognition and treatment.

  13. Neuroimaging correlates of cognitive functioning in cerebrovascular disease

    OpenAIRE

    Fernández-Andújar, Marina

    2014-01-01

    [spa] Los accidentes cerebrovasculares (ACV) son la tercera causa más común de muerte y la causa principal de discapacidad en adultos en los países desarrollados (Carmichael, 2012; Organización Mundial de la Salud, 2004). Concretamente, el ictus isquémico y las lesiones de sustancia blanca (LSB) frecuentemente dan lugar a múltiples secuelas neurológicas, deterioro cognitivo y alteraciones conductuales y emocionales (Gorelick et al., 2011; Troncoso et al., 2008). Los ACV son responsables de d...

  14. No association between temperature and deaths from cardiovascular and cerebrovascular diseases during the cold season in Astana, Kazakhstan--the second coldest capital in the world.

    Science.gov (United States)

    Grjibovski, Andrej M; Nurgaliyeva, Nassikhat; Kosbayeva, Aliya; Menne, Bettina

    2012-01-01

    Several European and North American studies have reported associations between cold temperatures and mortality from diseases of the circulatory system. However, the effects of cold vary between the settings warranting further research in other parts of the world. To study associations between temperature and mortality from selected diseases of circulatory system in Astana, Kazakhstan--the second coldest capital in the world. Daily counts of deaths from hypertensive diseases (ICD-10 codes: I10-I15), ischemic heart disease (I20-I25) and cerebrovascular diseases (I60-I69) among adults 18 years and older in Astana, Kazakhstan, during cold periods (October-March) in 2000-2001 and 2006-2010 were collected from the City Registry Office. Associations between mortality and mean apparent temperature and minimum apparent temperature (average for lags 0-15) were studied using Poisson regression controlling for barometric pressure (average for lags 0-3), wind speed and effects of month, year, weekends and holidays. Analyses were repeated using mean and minimum temperatures. Overall, there were 320, 4468 and 2364 deaths from hypertensive disorders, ischemic heart disease and cerebrovascular diseases, respectively. No significant associations between either mean, mean apparent, minimum or minimum apparent temperatures were found for any of the studied outcomes. Contrary to the European findings, we did not find inverse associations between apparent temperatures and mortality from cardiovascular or cerebrovascular causes. Factors behind the lack of association may be similar to those in urban settings in Siberia, that is, centrally heated houses and a culture of wearing large volumes of winter clothes outdoors. Further research on the sensitivity of the population in Kazakhstan to climatic factors and its adaptive capacity is warranted.

  15. Primary Immune Deficiency Disease Genetics & Inheritance

    Science.gov (United States)

    ... types of inherited mutations can cause PIDDs. Autosomal Dominant Credit: National Library of Medicine In this example, ... Hill, Ph.D. History Dr. Joseph J. Kinyoun: Father of the NIH Kinyoun: NIH Podcast – July 2012 ...

  16. Short-Term Effects of Gaseous Pollutants and Particulate Matter on Daily Hospital Admissions for Cardio-Cerebrovascular Disease in Lanzhou: Evidence from a Heavily Polluted City in China

    Directory of Open Access Journals (Sweden)

    Shan Zheng

    2013-01-01

    Full Text Available Panel studies show a consistent association between increase in the cardiovascular hospitalizations with air pollutants in economically developed regions, but little evidence in less developed inland areas. In this study, a time-series analysis was used to examine the specific effects of major air pollutants [particulate matter less than 10 microns in diameter (PM10, sulfur dioxide (SO2, and nitrogen dioxides (NO2] on daily hospital admissions for cardio-cerebrovascular diseases in Lanzhou, a heavily polluted city in China. We examined the effects of air pollutants for stratified groups by age and gender, and conducted the modifying effect of seasons on air pollutants to test the possible interaction. The significant associations were found between PM10, SO2 and NO2 and cardiac disease admissions, SO2 and NO2 were found to be associated with the cerebrovascular disease admissions. The elderly was associated more strongly with gaseous pollutants than younger. The modifying effect of seasons on air pollutants also existed. The significant effect of gaseous pollutants (SO2 and NO2 was found on daily hospital admissions even after adjustment for other pollutants except for SO2 on cardiac diseases. In a word, this study provides the evidence for the detrimental short-term health effects of urban gaseous pollutants on cardio-cerebrovascular diseases in Lanzhou.

  17. Evaluation of arterial diseases by intravenous digital angiography (IVSDA) and risk factors in patients with cerebrovascular disease

    International Nuclear Information System (INIS)

    Fukui, Toshiya

    1989-01-01

    Intravenous digital angiography (IVSDA) has been performed in 1,031 consecutive patients during the previous 4 years. Complications of IVSDA, such as coughing, dermal reaction, nausea and vomiting, occurred in 77 patients (7.5%). Among them, 234 patients with a definite diagnosis of cerebrovascular disease were entered onto this study. On the basis of findings of IVSDA, the patients were largely classified into six groups: internal carotid artery (ICA) occlusion, ICA stenosis, middle cerebral artery (MCA) occlusion, MCA stenosis, marked arterial elongation, and normal findings. A group of the patients with ICA occlusion was characterized by having sudden onset with less complicated hypertension. In this group, etiological factors seemed to be embolism, intra-atheromatic hemorrhage, and dissecting aneurysm, as well as atherosclerosis. Major risk factors were hypertension, smoking, diabetes mellitus, and ischemic heart disease for lesions of the main trunk; and severe hypertension, high hematocrit levels and elevated platelet aggregability for lesions of perforating and small cortical arteries and arterioles. In the case of arterial elongation, platelet aggregability elicited by ADP was not suppressed by antiplatelet agents. These patients need to receive intensive treatment to prevent relapse of the disease. (Namekawa, K)

  18. Magnetic resonance imaging in the acute stage of cerebrovascular disease

    International Nuclear Information System (INIS)

    Tanaka, Tokutaro; Sakai, Tsuneo; Fujishima, Ichiro; Yamamoto, Takamichi; Uemura, Kenichi; Teramura, Atsushi.

    1988-01-01

    Thirty patients with acute cerebrovascular disease were evaluated by both computed tomography (CT) and magnetic resonance (MR) imaging. The 17 patients with cerebral infarction (CI) were evaluated within 24 hours and the 13 with intracerebral hemorrhage (ICH) within 6 hours of the onset of symptoms. All ICHs were detected in T2-weighted images and appeared as perifocal, ring-like areas of high signal intensity. T2-weighted images also demonstrated a ruptured aneurysm and an arteriovenous malformation. In T1-weighted images, all ICHs displayed high signal intensity, which paralleled the CT images and is characteristic of MR imaging with an ultra-low magnetic filed. These findings were obtained as early as 90 minutes from the onset of symptoms. In cases of CI, T2-weighted images obtained 3 - 7 hours after onset demonstrated the pathology more clearly than did CT. This study proved MR imaging useful in the evaluation of both ICH and CI in the acute stage. In addition, it was possible to differentiate ICH from CI in the acute stage by T2-weighted images alone. (author)

  19. Influence of cerebrovascular arteriosclerosis on cerebral oxygenation during exercise

    International Nuclear Information System (INIS)

    Nagayama, Osamu; Koike, Akira; Hoshimoto, Masayo; Yamaguchi, Kaori; Tajima, Akihiko; Goda, Ayumi; Uejima, Tokuhisa; Aizawa, Tadanori; Itoh, Haruki

    2007-01-01

    Although it is assumed that cerebral oxygenation during exercise is influenced by both cardiopulmonary function and cerebrovascular arteriosclerosis, the latter factor has not been fully clarified. In the present study the relationship between the degree of cerebrovascular arteriosclerosis and cerebral oxygenation during exercise was investigated. A total of 109 patients (69 patients with coronary artery disease, 40 patients with hypertensive heart disease) (61.7±9.7 years) performed a symptom-limited exercise test with respiratory gas measurements (CPX). From the respiratory gas analysis, peak O 2 uptake (VO 2 ), the slope of the increase in VO 2 to the increase in work rate (ΔVO 2 /ΔWR), and the slope of the increase in ventilation to the increase in CO 2 output (VE/VCO 2 slope) were calculated. Oxyhemoglobin (O 2 Hb) at the forehead was monitored using near-infrared spectroscopy. The brain ischemic score was counted based upon fluid-attenuated inversion recovery images of magnetic resonance imaging and expressed from 0 to 4. When compared with patients with a lower ischemic score ( 2 Hb during exercise (-1.08±2.7 vs 0.77±4.1 μmol/L, p=0.011). Of brain ischemic score, left ventricular ejection fraction, peak VO 2 , ΔVO 2 /ΔWR, and the VE/VCO 2 slope, ΔVO 2 /ΔWR was found to be the sole independent index determining cerebral O 2 Hb during exercise. The CPX parameters were also significantly related to the degree of cerebrovascular arteriosclerosis. Although cerebral oxygenation during exercise is mainly related to cardiopulmonary function, the degree of cerebrovascular arteriosclerosis partly influences cerebral oxygenation in patients with risk factors for atherosclerosis. (author)

  20. Study of cerebrovascular diseases and SPECT with 99mTc HMPAO

    International Nuclear Information System (INIS)

    Collazo de la Maza, A.; Borron Molinos, M.; Barroso, E.

    1997-01-01

    Thirty eight patients with Cerebrovascular disease, that had suffered a Thrombotic brain infraction, demonstrated by Computed electroencephalogram or Brain Mapping (BM) and Computerized Tomography (CT) were investigated with '99' '9' 'm' Tc HM-PAO brain SPECT. Their ages ranged from 37 to 73 years old, 18 males and 20 female. Some of them were followed up with these diagnostic methods. The acquisition and processing of the SPECT studies were donw with a SOPHY DS7 Gamma Camera. The results showed that the global diagnostic sensibility of the SPECT was 79%. The sensibility of SPECT in the Acute stage was 75 %, CT 57% and BM 92%. In Steady stage we found a high positivity of SPECT with 83 %, Ct 66% and BM 66%. In the Recuperation Stage SPECT was 77%, CT 66% and 45%. Some phenomenon like the Luxury Perfusion and Diaschisis were studied and it is possible to found some prognostic relation

  1. Psychological stress-induced cerebrovascular dysfunction: the role of metabolic syndrome and exercise.

    Science.gov (United States)

    Brooks, Steven; Brnayan, Kayla W; DeVallance, Evan; Skinner, Roy; Lemaster, Kent; Sheets, J Whitney; Pitzer, Christopher R; Asano, Shinichi; Bryner, Randall W; Olfert, I Mark; Frisbee, Jefferson C; Chantler, Paul D

    2018-05-01

    What is the central question of this study? How does chronic stress impact cerebrovascular function and does metabolic syndrome accelerate the cerebrovascular adaptations to stress? What role does exercise training have in preventing cerebrovascular changes to stress and metabolic syndrome? What is the main finding and its importance? Stressful conditions lead to pathological adaptations of the cerebrovasculature via an oxidative nitric oxide pathway, and the presence of metabolic syndrome produces a greater susceptibility to stress-induced cerebrovascular dysfunction. The results also provide insight into the mechanisms that may contribute to the influence of stress and the role of exercise in preventing the negative actions of stress on cerebrovascular function and structure. Chronic unresolvable stress leads to the development of depression and cardiovascular disease. There is a high prevalence of depression with the metabolic syndrome (MetS), but to what extent the MetS concurrent with psychological stress affects cerebrovascular function is unknown. We investigated the differential effect of MetS on cerebrovascular structure/function in rats (16-17 weeks old) following 8 weeks of unpredictable chronic mild stress (UCMS) and whether exercise training could limit any cerebrovascular dysfunction. In healthy lean Zucker rats (LZR), UCMS decreased (28%, P stress and increased production of nitric oxide in the cerebral vessels. In conclusion, UCMS significantly impaired MCA structure and function, but the effects of UCMS were more substantial in OZR vs. LZR. Importantly, aerobic exercise when combined with UCMS prevented the MCA dysfunction through subtle shifts in nitric oxide and oxidative stress in the cerebral microvasculature. © 2018 The Authors. Experimental Physiology © 2018 The Physiological Society.

  2. Peripheral neuropathy in complex inherited diseases: an approach to diagnosis.

    Science.gov (United States)

    Rossor, Alexander M; Carr, Aisling S; Devine, Helen; Chandrashekar, Hoskote; Pelayo-Negro, Ana Lara; Pareyson, Davide; Shy, Michael E; Scherer, Steven S; Reilly, Mary M

    2017-10-01

    Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy, for example, spasticity, the type of neuropathy and the other neurological and non-neurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories: (1) ataxia, (2) spasticity and (3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy, for example, cardiomyopathy and neuropathy. We also include a separate category of complex inherited relapsing neuropathy syndromes, some of which may mimic Guillain-Barré syndrome, as many will have a metabolic aetiology and be potentially treatable. © Article author(s) (or their employer(s) unless otherwise stated in the text of the article) 2017. All rights reserved. No commercial use is permitted unless otherwise expressly granted.

  3. Atención primaria de salud en la Enfermedad Cerebrovascular

    Directory of Open Access Journals (Sweden)

    Keidy Sabater Bueno

    1999-01-01

    Full Text Available Se realiza un estudio retrospectivo-descriptivo para evaluar las acciones de salud que el Médico de la Familia realizó sobre los pacientes con enfermedad cerebrovascular y que fallecieron por ese motivo en el Área de Salud "Carlos Verdugo", Matanzas, durante los años 1994 y 1995. Se estudiaron 50 fallecidos en entrevista médico-familiar; se obtuvieron los datos de, edad, sexo y antecedentes patológicos personales que recogieron: enfermedades crónicas y factores de riesgo; dispensarización, que recogió número de controles realizados en los últimos 12 meses que precedieron a la defunción ya fueran en consultas, visitas de terreno y visitas integrales, así como el cumplimiento del tratamiento indicado. Se encontró que se dispensarizaron en el 100 % de los fallecidos la hipertensión arterial, la cardiopatía isquémica, la obesidad y la hiperlipidemia. El 72,4 % (12 fallecidos recibió entre 1 y 3 controles en consultas. El 79,3 % (16 fallecidos recibió entre 1 y 3 controles en visitas de terreno y el 100 % se controló entre 1 y 3 ocasiones en visitas integrales a la familia. Se concluyó que el cumplimiento del tratamiento indicado para la enfermedad cerebrovascular, los factores de riesgo y enfermedades crónicas no fue satisfactorio en el grupo estudiado. Se recomienda realizar un mayor número de controles en la atención primaria a los pacientes con enfermedad cerebrovascular sobre todo cuando en la dispensarización se encuentra la asociación hipertensión arterial, hábito de fumar y mayores de 65 años.A retrospective descriptive study was conducted to evaluate the health actions taken by the family physician in connection with those patients that suffered from cerebrovascular disease and died due to this cause in the "Carlos Verdugo" health area, Matanzas, during 1994 and 1995. 50 dead patients were studied through doctor relative interviews. The following data were obtained: age, sex, personal pathological history

  4. Valor de la resonancia magnética de imágenes en pacientes con enfermedad cerebrovascular isquémica Evaluation of the magnetic resonance imaging in patient with ischemic cerebrovascular disease

    Directory of Open Access Journals (Sweden)

    Laura María Pons Porrata

    2009-04-01

    Full Text Available La resonancia magnética de imágenes permite investigar aspectos morfológicos y funcionales del cerebro, lo cual es sumamente útil para diagnosticar enfermedades neurológicas, incluidas las cerebrovasculares y, por supuesto, la isquemia cerebral en las primeras horas de ocurrida, de modo que facilita seguir la evolución del ictus, reducir la zona de necrosis y garantizar una mejor calidad de vida de los pacientes. A diferencia de la tomografía y la angiografía no utiliza radiaciones ionizantes. En este artículo se concluye, entre otras inferencias, que su elevada sensibilidad supera el número de confirmaciones obtenidas a través de la tomografía axial computarizada.Magnetic resonance imaging allows to investigate morphological and functional aspects of the brain, something extremely useful to diagnose neurological diseases, including the cerebrovascular diseases and, of course, the cerebral ischemia in the first hours of its ocurrence, so it facilitates to follow the clinical course of ictus, to reduce the necrosis area and to guarantee a better life quality of patients. Contrary to tomography and angiography it doesn't use ionizing radiations. In this article it is concluded, among other things, that its high sensibility overcomes the number of confirmations obtained through computarized axial tomography.

  5. Red Blood Cell Distribution Width: A Novel Predictive Indicator for Cardiovascular and Cerebrovascular Diseases

    Directory of Open Access Journals (Sweden)

    Ning Li

    2017-01-01

    Full Text Available The red blood cell distribution width (RDW obtained from a standard complete blood count (CBC is a convenient and inexpensive biochemical parameter representing the variability in size of circulating erythrocytes. Over the past few decades, RDW with mean corpuscular volume (MCV has been used to identify quite a few hematological system diseases including iron-deficiency anemia and bone marrow dysfunction. In recent years, many clinical studies have proved that the alterations of RDW levels may be associated with the incidence and prognosis in many cardiovascular and cerebrovascular diseases (CVDs. Therefore, early detection and intervention in time of these vascular diseases is critical for delaying their progression. RDW as a new predictive marker and an independent risk factor plays a significant role in assessing the severity and progression of CVDs. However, the mechanisms of the association between RDW and the prognosis of CVDs remain unclear. In this review, we will provide an overview of the representative literatures concerning hypothetical and potential epidemiological associations between RDW and CVDs and discuss the underlying mechanisms.

  6. Unemployment, government healthcare spending, and cerebrovascular mortality, worldwide 1981-2009: an ecological study.

    Science.gov (United States)

    Maruthappu, Mahiben; Shalhoub, Joseph; Tariq, Zoon; Williams, Callum; Atun, Rifat; Davies, Alun H; Zeltner, Thomas

    2015-04-01

    The global economic downturn has been associated with unemployment rises, reduced health spending, and worsened population health. This has raised the question of how economic variations affect health outcomes. We sought to determine the effect of changes in unemployment and government healthcare expenditure on cerebrovascular mortality globally. Data were obtained from the World Bank and World Health Organization. Multivariate regression analysis was used to assess the effect of changes in unemployment and government healthcare expenditure on cerebrovascular mortality. Country-specific differences in infrastructure and demographics were controlled for. One- to five-year lag analyses and robustness checks were conducted. Across 99 countries worldwide, between 1981 and 2009, every 1% increase in unemployment was associated with a significant increase in cerebrovascular mortality (coefficient 187, CI: 86.6-288, P = 0.0003). Every 1% rise in government healthcare expenditure, across both genders, was associated with significant decreases in cerebrovascular deaths (coefficient 869, CI: 383-1354, P = 0.0005). The association between unemployment and cerebrovascular mortality remained statistically significant for at least five years subsequent to the 1% unemployment rise, while the association between government healthcare expenditure and cerebrovascular mortality remained significant for two years. These relationships were both shown to be independent of changes in gross domestic product per capita, inflation, interest rates, urbanization, nutrition, education, and out-of-pocket spending. Rises in unemployment and reductions in government healthcare expenditure are associated with significant increases in cerebrovascular mortality globally. Clinicians may also need to consider unemployment as a possible risk factor for cerebrovascular disease mortality. © 2015 World Stroke Organization.

  7. Dipyridamole cerebral flow stress test evaluating ischemic cerebrovascular diseases

    International Nuclear Information System (INIS)

    Xiu, Y.; Chen, S.; Sun, X.; Liu, S.; Li, W.; Fan, W.; Wang, X.

    2000-01-01

    To detect the clinical value of dipyridamole cerebral blood flow stress test in cerebrovascular diseases (CVD). Nineteen patients (9 male, 10 female, mean age=65) who were diagnosed as CVD were included. One suffered from infarct, two suffered from thrombosis, one feel dizziness. All 4 performed rest and stress test. The other 15 were VBI, 9 of them performed stress test. Rest and stress test were done two-day method using Elscint Apex SP-6 SPECT equipped with low energy all purpose collimator. Rest perfusion imaging was started 30 min after injecting 1.11 GBq 99m Tc-ECD. Dipyridamole stress test was done within one week. 0.56 mg/Kg dipyridamole was injected intravenously during 4 min the same dose of ECD was injected 2 min later. The acquisition started 30 min later with the same parameter. Heart rate, ECG and the patient's complaint were monitored 2 min before and after dipyridamole. After correction for attenuation, transverse, coronal and sagittal slices were reconstructed. Eighteen ROIs were drawn symmetrically on cingulate, frontal, temporal-parietal, temporal, occipital, vision cortex, basal ganglia, superior frontal and parietal on the 3 rd , 6 th , 9 th transverse slices, selecting the contralateral as the reference region. The counts per pixel in each ROI were divided by the counts of the mirror region to obtain the relative uptake ratio. We think it abnormality when the ratio is above 1,1 or below 0.9. The sensitivity for rest and stress rCBF test was compared. rCBF was decreased at 10 of 19 patients (sensitivity 52.6%). 14 had low rCBF after dipyridamole (sensitivity 72.3%), Among the patients who studied stress test, 6 had normal rCBF at rest and low rCBF after stress. The abnormal area was enlarged after dipyridamole for 1 patients, 2 improved and 2 unchanged. 8 of 15 VBI had normal rCBF at rest (sensitivity 53.3%). 9 of 15 VBI performed stress test. rCBF was normal at rest for 5 patients, rCBF was decreased after stress, it was improved for one

  8. Concomitant use of proton pump inhibitors and clopidogrel in patients with coronary, cerebrovascular, or peripheral artery disease in the factores de Riesgo y ENfermedad Arterial (FRENA) registry.

    Science.gov (United States)

    Muñoz-Torrero, Juan Francisco Sánchez; Escudero, Domingo; Suárez, Carmen; Sanclemente, Carmen; Pascual, Ma Teresa; Zamorano, José; Trujillo-Santos, Javier; Monreal, Manuel

    2011-01-01

    Among patients receiving clopidogrel for coronary artery disease, concomitant therapy with proton pump inhibitors (PPIs) has been associated with an increased risk for recurrent coronary events. Factores de Riesgo y ENfermedad Arterial (FRENA) is an ongoing, multicenter, observational registry of consecutive outpatients with coronary artery disease, cerebrovascular disease, or peripheral artery disease. We retrospectively examined the influence of concomitant use of PPIs on outcome in patients receiving clopidogrel. As of March 2009, 1222 patients were using clopidogrel: 595 had coronary artery disease, 329 cerebrovascular disease, and 298 had peripheral artery disease. Of these, 519 (42%) were concomitantly using PPIs. Over a mean follow-up of 15 months, 131 patients (11%) had 139 subsequent ischemic events: myocardial infarction 44, ischemic stroke 40, and critical limb ischemia 55. Seventeen of them (13%) died within 15 days of the subsequent event. PPI users had a higher incidence of myocardial infarction (rate ratio, 2.5; 95% confidence interval [CI], 1.3-4.8), ischemic stroke (rate ratio, 1.9; 95% CI, 1.03-3.7), and a nonsignificantly higher rate of critical limb ischemia (rate ratio, 1.6; 95% CI, 0.95-2.8) than nonusers. On multivariate analysis, concomitant use of clopidogrel and PPIs was independently associated with an increased risk for subsequent ischemic events both in the whole series of patients (hazard ratio, 1.8; 95% CI, 1.1-2.7) and in those with cerebrovascular disease or peripheral artery disease (hazard ratio, 1.5; 95% CI, 1.01-2.4). In patients with established arterial disease, concomitant use of PPIs and clopidogrel was associated with a nearly doubling of the incidence of subsequent myocardial infarction or ischemic stroke. This higher incidence persisted after multivariate adjustment.

  9. Systems pharmacology for traditional Chinese medicine with application to cardio-cerebrovascular diseases

    Directory of Open Access Journals (Sweden)

    Yingxue Fu

    2014-10-01

    Full Text Available Identified as a treasure of natural herbal products, traditional Chinese medicine (TCM has attracted extensive attention for their moderate treatment effect and lower side effect. Cardio-cerebrovascular diseases (CCVD are a leading cause of death. TCM is used in China to prevent and treat CCVD. However, the complexity of TCM poses challenges in understanding the mechanisms of herbs at a systems-level, thus hampering the modernization and globalization of TCM. A novel model, termed traditional Chinese medicine systems pharmacology (TCMSP analysis platform, which relies on the theory of systems pharmacology and integrates absorption, distribution, metabolism, excretion and toxicity (ADME/T evaluation, target prediction and network/pathway analysis, was proposed to address these problems. Here, we review the development of systems pharmacology, the TCMSP approach and its applications in the investigations of CCVD and compare it with other methods. TCMSP assists in uncovering the mechanisms of action of herbal formulas used in treating CCVD. It can also be applied in ascertaining the different syndrome patterns of coronary artery disease, decoding the multi-scale mechanisms of herbs, and in understanding the mechanisms of herbal synergism.

  10. Elevated cardiac troponin I predicts cardiovascular or cerebrovascular events in hypertensive patients

    International Nuclear Information System (INIS)

    Zhang Li'na; Cao Yanfei; Qiu Yifan

    2011-01-01

    Objective: Whether elevated cTnI is associated with cardiovascular or cerebrovascular events in patients with hypertension (HT) without left ventricular(LV) systolic dysfunction is not clear. Method: We measured cTnI serum level in 170 patients with essential HT without LV systolic dysfunction (LVEF 55%),renal failure,and prior cardiovascular or cerebrovascular diseases. Besides, control group of 40 normal presons was established and following up (45±38)months. Results: Level of cTnI was elevated (≥0.04 ng/ml) in 15 (8.8%) of the 170 patients and in 0 (0%) of the 40 normal controls. The rate of diabetes mellitus(DM), the cardiothoracic ratio, serum NT-proBNP value, and LV mass index were significantly higher in patients with than without elevated cTnI (DM, 9/15 versus 25/155, P 2 , P=0.0001). Kaplan-Meier analysis demonstrated that significantly fewer (P<0.000001) patients with, than without elevated cTnI remained free of events (hospitalization due to cardiovascular or cerebrovascular disease). Stepwise Cox multivariate analysis revealed that elevated cTnT (hazard ratio, 6.59, P=0.000001) and smoking (hazard ratio, 2.26, P=0.04) were independent predictors of events. Conclusion: The present findings indicate that cTnI is a biomarker and useful predictor of future cardiovascular or cerebrovascular events in hypertensive patients. (authors)

  11. Time series analysis of the association between ambient temperature and cerebrovascular morbidity in the elderly in Shanghai, China

    Science.gov (United States)

    Zhang, Xian-Jing; Ma, Wei-Ping; Zhao, Nai-Qing; Wang, Xi-Ling

    2016-01-01

    Research on the association between ambient temperature and cerebrovascular morbidity is scarce in China. In this study, we applied mixed generalized additive model (MGAM) to daily counts of cerebrovascular disease of Shanghai residents aged 65 years or older from 2007-2011, stratified by gender. Weighted daily mean temperature up to lags of one week was smoothed by natural cubic spline, and was added into the model to assess both linear and nonlinear effects of temperature. We found that when the mean temperature increased by 1 °C, the male cases of cerebrovascular disease reduced by 0.95% (95% Confidence Interval (CI): 0.80%, 1.10%) or reduced by 0.34% (95% CI: -0.68, 1.36%) in conditions of temperature was below or above 27 °C. However, for every 1 °C increase in temperature, the female cases of cerebrovascular disease increased by 0.34% (95% CI: -0.26%, 0.94%) or decreased by 0.92% (95% CI: 0.72, 1.11%) in conditions of temperature was below or above 8 °C, respectively. Temperature and cerebrovascular morbidity is negatively associated in Shanghai. MGAM is recommended in assessing the association between environmental hazards and health outcomes in time series studies.

  12. Inheritance-mode specific pathogenicity prioritization (ISPP) for human protein coding genes.

    Science.gov (United States)

    Hsu, Jacob Shujui; Kwan, Johnny S H; Pan, Zhicheng; Garcia-Barcelo, Maria-Mercè; Sham, Pak Chung; Li, Miaoxin

    2016-10-15

    Exome sequencing studies have facilitated the detection of causal genetic variants in yet-unsolved Mendelian diseases. However, the identification of disease causal genes among a list of candidates in an exome sequencing study is still not fully settled, and it is often difficult to prioritize candidate genes for follow-up studies. The inheritance mode provides crucial information for understanding Mendelian diseases, but none of the existing gene prioritization tools fully utilize this information. We examined the characteristics of Mendelian disease genes under different inheritance modes. The results suggest that Mendelian disease genes with autosomal dominant (AD) inheritance mode are more haploinsufficiency and de novo mutation sensitive, whereas those autosomal recessive (AR) genes have significantly more non-synonymous variants and regulatory transcript isoforms. In addition, the X-linked (XL) Mendelian disease genes have fewer non-synonymous and synonymous variants. As a result, we derived a new scoring system for prioritizing candidate genes for Mendelian diseases according to the inheritance mode. Our scoring system assigned to each annotated protein-coding gene (N = 18 859) three pathogenic scores according to the inheritance mode (AD, AR and XL). This inheritance mode-specific framework achieved higher accuracy (area under curve  = 0.84) in XL mode. The inheritance-mode specific pathogenicity prioritization (ISPP) outperformed other well-known methods including Haploinsufficiency, Recessive, Network centrality, Genic Intolerance, Gene Damage Index and Gene Constraint scores. This systematic study suggests that genes manifesting disease inheritance modes tend to have unique characteristics. ISPP is included in KGGSeq v1.0 (http://grass.cgs.hku.hk/limx/kggseq/), and source code is available from (https://github.com/jacobhsu35/ISPP.git). mxli@hku.hkSupplementary information: Supplementary data are available at Bioinformatics online. © The Author

  13. No association between temperature and deaths from cardiovascular and cerebrovascular diseases during the cold season in Astana, Kazakhstan – the second coldest capital in the world

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    Andrej M. Grjibovski

    2012-12-01

    Full Text Available Background. Several European and North American studies have reported associations between cold temperatures and mortality from diseases of the circulatory system. However, the effects of cold vary between the settings warranting further research in other parts of the world. Objectives. To study associations between temperature and mortality from selected diseases of circulatory system in Astana, Kazakhstan – the second coldest capital in the world. Methods. Daily counts of deaths from hypertensive diseases (ICD-10 codes: I10–I15, ischemic heart disease (I20–I25 and cerebrovascular diseases (I60–I69 among adults 18 years and older in Astana, Kazakhstan, during cold periods (October–March in 2000–2001 and 2006–2010 were collected from the City Registry Office. Associations between mortality and mean apparent temperature and minimum apparent temperature (average for lags 0–15 were studied using Poisson regression controlling for barometric pressure (average for lags 0–3, wind speed and effects of month, year, weekends and holidays. Analyses were repeated using mean and minimum temperatures. Results. Overall, there were 320, 4468 and 2364 deaths from hypertensive disorders, ischemic heart disease and cerebrovascular diseases, respectively. No significant associations between either mean, mean apparent, minimum or minimum apparent temperatures were found for any of the studied outcomes. Conclusions. Contrary to the European findings, we did not find inverse associations between apparent temperatures and mortality from cardiovascular or cerebrovascular causes. Factors behind the lack of association may be similar to those in urban settings in Siberia, that is, centrally heated houses and a culture of wearing large volumes of winter clothes outdoors. Further research on the sensitivity of the population in Kazakhstan to climatic factors and its adaptive capacity is warranted.

  14. No association between temperature and deaths from cardiovascular and cerebrovascular diseases during the cold season in Astana, Kazakhstan – the second coldest capital in the world

    Science.gov (United States)

    Grjibovski, Andrej M.; Nurgaliyeva, Nassikhat; Kosbayeva, Aliya; Menne, Bettina

    2012-01-01

    Background Several European and North American studies have reported associations between cold temperatures and mortality from diseases of the circulatory system. However, the effects of cold vary between the settings warranting further research in other parts of the world. Objectives To study associations between temperature and mortality from selected diseases of circulatory system in Astana, Kazakhstan – the second coldest capital in the world. Methods Daily counts of deaths from hypertensive diseases (ICD-10 codes: I10–I15), ischemic heart disease (I20–I25) and cerebrovascular diseases (I60–I69) among adults 18 years and older in Astana, Kazakhstan, during cold periods (October–March) in 2000–2001 and 2006–2010 were collected from the City Registry Office. Associations between mortality and mean apparent temperature and minimum apparent temperature (average for lags 0–15) were studied using Poisson regression controlling for barometric pressure (average for lags 0–3), wind speed and effects of month, year, weekends and holidays. Analyses were repeated using mean and minimum temperatures. Results Overall, there were 320, 4468 and 2364 deaths from hypertensive disorders, ischemic heart disease and cerebrovascular diseases, respectively. No significant associations between either mean, mean apparent, minimum or minimum apparent temperatures were found for any of the studied outcomes. Conclusions Contrary to the European findings, we did not find inverse associations between apparent temperatures and mortality from cardiovascular or cerebrovascular causes. Factors behind the lack of association may be similar to those in urban settings in Siberia, that is, centrally heated houses and a culture of wearing large volumes of winter clothes outdoors. Further research on the sensitivity of the population in Kazakhstan to climatic factors and its adaptive capacity is warranted. PMID:23256090

  15. Genetic Testing for Inherited Heart Disease

    Science.gov (United States)

    ... pedigree. A pedigree ( Figure 2 ) is a family tree that shows who has and who does not have the condition of interest. It is drawn to organize information about the medical history of family members, to illustrate who is affected, to identify the pattern of inheritance, and to identify who ...

  16. Pharmacogenetics of cerebrovascular metabolism modulators in dementia due to Alzheimer’s disease

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    Fabricio Ferreira de Oliveira

    2015-03-01

    Full Text Available The aims of this study were to investigate risk factors for cognitive and functional decline among 193 patients with Alzheimer’s disease dementia (AD, and to conduct pharmacogenetic analysis on cerebrovascular metabolism modulators, taking into account APOE haplotypes and the genotypes of ACE, CETP, LDLR and the LXR-β gene. For all patients, later age at AD onset was the most important risk factor for faster cognitive and functional decline, while the late-life coronary heart disease risk was inversely related to cognitive decline only for carriers of APOE4+ haplotypes. Schooling was protective against cognitive decline only for women and carriers of APOE4+ haplotypes, while higher body mass index in late life was protective against cognitive decline only for men. Carriers of the APOE-ε4/ε4 haplotype had earlier AD onset, whereas genotypes of CETP and LDLR that had traditionally been associated with higher risk of AD were associated with later onset of dementia. Angiotensin-converting enzyme inhibitors caused a 50% reduction in Mini-Mental State Examination score changes, and had better disease-modifying properties than did centrally-acting angiotensin-converting enzyme inhibitors alone. Angiotensin receptor blockers had genetically mediated effects that led to faster cognitive and functional decline, while patients with genetic tendencies towards faster cognitive and functional decline had maximum benefits when they used lipophilic statins, and vice versa.

  17. Clinical aspects and prognosis of intraventricular hemorrhage with cerebrovascular disease

    International Nuclear Information System (INIS)

    Ikeda, Yukio; Nakazawa, Shozo; Higuchi, Hiroshi; Ueda, Kenji; Kouzo

    1982-01-01

    Intraventricular hemorrhage with cerebrovascular disease was identified in 81 cases and death occurred within seven days in 34 cases. Hypertension was the most common etiological factor, accounting for 40 of the 81 cases. Cerebral aneurysm was the second most common cause accounting for 27 cases, arteriovenous malformation accounted for 9 of the cases, and 5 were of other causes. Signs of primary or secondary brain stem dysfunction were mainly seen in cases with hypertension and aneurysm, while cases with arteriovenous malformation had benign courses. The mortality depended on the severity of intraventricular hemorrhage; i.e., the distribution, site, and the number of cast formation. The presence of intraventricular clot in the third and/or fourth ventricles was correlated with a high mortality rate, especially in cases accompanied by cast formation and third and fourth ventricular dilatation, which affects hypothalamus and brain stem function. Analysis of CT findings for the mechanism of intraventricular hemorrhage revealed three types: extension type, in which massive intracerebral hematomas extended and ruptured into ventricles; the direct type, which bled directly into ventricles without forming definite intracerebral hematomas; and the reflux type, which was characterized by reflux of the subarachnoid blood. (J.P.N.)

  18. Analysis of cerebrovascular disease mortality trends in Andalusia (1980-2014).

    Science.gov (United States)

    Cayuela, A; Cayuela, L; Rodríguez-Domínguez, S; González, A; Moniche, F

    2017-03-15

    In recent decades, mortality rates for cerebrovascular diseases (CVD) have decreased significantly in many countries. This study analyses recent tendencies in CVD mortality rates in Andalusia (1980-2014) to identify any changes in previously observed sex and age trends. CVD mortality and population data were obtained from Spain's National Statistics Institute database. We calculated age-specific and age-standardised mortality rates using the direct method (European standard population). Joinpoint regression analysis was used to estimate the annual percentage change in rates and identify significant changes in mortality trends. We also estimated rate ratios between Andalusia and Spain. Standardised rates for both males and females showed 3 periods in joinpoint regression analysis: an initial period of significant decline (1980-1997), a period of rate stabilisation (1997-2003), and another period of significant decline (2003-2014). Between 1997 and 2003, age-standardised rates stabilised in Andalusia but continued to decrease in Spain as a whole. This increased in the gap between CVD mortality rates in Andalusia and Spain for both sexes and most age groups. Copyright © 2017 The Author(s). Publicado por Elsevier España, S.L.U. All rights reserved.

  19. Operative volume and outcomes of cerebrovascular neurosurgery in children.

    Science.gov (United States)

    Bekelis, Kimon; Connolly, Ian D; Do, Huy M; Choudhri, Omar

    2016-11-01

    OBJECTIVE The impact of procedural volume on the outcomes of cerebrovascular surgery in children has not been determined. In this study, the authors investigated the association of operative volume on the outcomes of cerebrovascular neurosurgery in pediatric patients. METHODS The authors performed a cohort study of all pediatric patients who underwent a cerebrovascular procedure between 2003 and 2012 and were registered in the Kids' Inpatient Database (KID). To control for confounding, the authors used multivariable regression models, propensity-score conditioning, and mixed-effects analysis to account for clustering at the hospital level. RESULTS During the study period, 1875 pediatric patients in the KID underwent cerebrovascular neurosurgery and met the inclusion criteria for the study; 204 patients (10.9%) underwent aneurysm clipping, 446 (23.8%) underwent coil insertion for an aneurysm, 827 (44.1%) underwent craniotomy for arteriovenous malformation resection, and 398 (21.2%) underwent bypass surgery for moyamoya disease. Mixed-effects multivariable regression analysis revealed that higher procedural volume was associated with fewer inpatient deaths (OR 0.58; 95% CI 0.40-0.85), a lower rate of discharges to a facility (OR 0.87; 95% CI 0.82-0.92), and shorter length of stay (adjusted difference -0.22; 95% CI -0.32 to -0.12). The results in propensity-adjusted multivariable models were robust. CONCLUSIONS In a national all-payer cohort of pediatric patients who underwent a cerebrovascular procedure, the authors found that higher procedural volume was associated with fewer deaths, a lower rate of discharges to a facility, and decreased lengths of stay. Regionalization initiatives should include directing children with such rare pathologies to a center of excellence.

  20. Brain MRI hyperintense lesions and cerebrovascular risk factors in the elderly

    International Nuclear Information System (INIS)

    Iidaka, Tetsuya

    1993-01-01

    It is known that asymptomatic MRI lesions of the brain are found in elderly subjects, but the significance of the lesions has not been determined. In previous reports, the prevalence of MRI lesions varied from 11% to 59%, but many of the authors indicated a close relationship with cerebrovascular risk factors. We evaluated 76 elderly subjects (over 60 years old, average age ±SD was 66.7±4.5) without a history of cerebrovascular disease and dementia, and determined the prevalence of periventricular (PVH), white matter (WMH) and pontine (PH) hyperintensity and risk factors. The severity of MRI lesion was evaluated in T2-weighted images by Fazekas' scoring method of MRI hyperintense lesions. PVH, WMH and PH were graded visually from 0 to 3 by the author and these points are added to the MRI score. In T1-weighted images, we also measured the diameter of the third ventricle, frontal horn and body of the lateral ventricle. Our results were that 62% of subjects had PVH, 64% had WMH and 8% had PH. In regard to risk factors, 38% of subjects had hypertension, 17% had diabetes mellitus, 8% had ischemic heart disease. The PVH (+) group was significantly older (p<0.01) and had larger lateral ventricles (p<0.05) than the PVH (-) group. The WMH (+) group was significantly older (p<0.05) and had higher risk of cerebrovascular disease (0.05) than the WMH (-) group. The MRI score was related, but not significantly, to a history of hypertension, diabetes mellitus and ischemic heart disease. The MRI score and index of ventricular enlargement correlated with age (p<0.05). In conclusion, PVH was related to aging and cerebrovascular risk factors. Therefore, PVH and WMH were suspected to have different pathogenesis and WMH was more closely related to risk factors. Our scoring method permits evaluation and comparison of MRI lesions of different groups. (author)

  1. The analysis of the contrast enhanced lesions on cerebro-vascular diseases

    International Nuclear Information System (INIS)

    Terada, Tomoaki; Nishiguchi, Takashi; Hyoutani, Genhachi; Miyamoto, Kazuki; Komai, Norihiko

    1989-01-01

    The contrast enhancement of cerebro-vascular diseases on CT is thought to be due to the increase of the cerebral blood volume (CBV) and/or the disruption of the blood brain barrier (BBB). However, it is difficult to differentiate these two conditions only by contrast enhanced CT. We employed dynamic CT (DCT) to analyse these lesions with respect to the patterns of time-density curve and peak height (PH) of the curve upon the theoretical basis that flattening of the latter part of the time-density curve reflected the degree of BBB disruption and PH reflected the CBV. In all cases of hypertensive intracerebral hemorrhage (11 cases), the contrast enhanced lesion around the hematoma showed marked BBB disruption according to the results of DCT. In 11 cases of cerebral infarction, patterns of BBB disruption and CBV varied at the contrast enhanced lesions according to the result of DCT. However, all contrast enhanced lesions with increased PH were associated with hemorrhagic infarction. Thus, the precise analysis of DCT provides appropriate therapeutic schedules by predicting the occurrence of hemorrhagic infarction. (author)

  2. Network-based analysis of genotype-phenotype correlations between different inheritance modes.

    Science.gov (United States)

    Hao, Dapeng; Li, Chuanxing; Zhang, Shaojun; Lu, Jianping; Jiang, Yongshuai; Wang, Shiyuan; Zhou, Meng

    2014-11-15

    Recent studies on human disease have revealed that aberrant interaction between proteins probably underlies a substantial number of human genetic diseases. This suggests a need to investigate disease inheritance mode using interaction, and based on which to refresh our conceptual understanding of a series of properties regarding inheritance mode of human disease. We observed a strong correlation between the number of protein interactions and the likelihood of a gene causing any dominant diseases or multiple dominant diseases, whereas no correlation was observed between protein interaction and the likelihood of a gene causing recessive diseases. We found that dominant diseases are more likely to be associated with disruption of important interactions. These suggest inheritance mode should be understood using protein interaction. We therefore reviewed the previous studies and refined an interaction model of inheritance mode, and then confirmed that this model is largely reasonable using new evidences. With these findings, we found that the inheritance mode of human genetic diseases can be predicted using protein interaction. By integrating the systems biology perspectives with the classical disease genetics paradigm, our study provides some new insights into genotype-phenotype correlations. haodapeng@ems.hrbmu.edu.cn or biofomeng@hotmail.com Supplementary data are available at Bioinformatics online. © The Author 2014. Published by Oxford University Press. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  3. Clinical applications of single photon emission tomography in neuromedicine. Part 1. Neuro-oncology, epilepsy, movement disorders, cerebrovascular disease

    International Nuclear Information System (INIS)

    Bartenstein, P.; Gruenwald, F.; Kuwert, T.; Tatsch, K.; Sabri, O.; Benkert, O.; Fahlbusch, R.; Gruender, G.; Herzholz, K.; Weiller, C.

    2000-01-01

    Single photon emission tomography is, because of its availability and the relatively low costs, the functional imaging modality currently most widely used for clinical applications in the brain. Beside the application of radiopharmaceuticals for the assessment of regional cerebral blood flow there is an increasing clinical use of more selective SPECT-radiopharmaceuticals, like amino acid analogs or receptor ligands. This article gives in its first part a critical review of the clinical applications of SPECT in neuro-oncology, epilepsy, basal ganglia disorders and cerebrovascular disease. (orig.) [de

  4. Plastics derived endocrine disruptors (BPA, DEHP and DBP induce epigenetic transgenerational inheritance of obesity, reproductive disease and sperm epimutations.

    Directory of Open Access Journals (Sweden)

    Mohan Manikkam

    Full Text Available Environmental compounds are known to promote epigenetic transgenerational inheritance of adult onset disease in subsequent generations (F1-F3 following ancestral exposure during fetal gonadal sex determination. The current study was designed to determine if a mixture of plastic derived endocrine disruptor compounds bisphenol-A (BPA, bis(2-ethylhexylphthalate (DEHP and dibutyl phthalate (DBP at two different doses promoted epigenetic transgenerational inheritance of adult onset disease and associated DNA methylation epimutations in sperm. Gestating F0 generation females were exposed to either the "plastics" or "lower dose plastics" mixture during embryonic days 8 to 14 of gonadal sex determination and the incidence of adult onset disease was evaluated in F1 and F3 generation rats. There were significant increases in the incidence of total disease/abnormalities in F1 and F3 generation male and female animals from plastics lineages. Pubertal abnormalities, testis disease, obesity, and ovarian disease (primary ovarian insufficiency and polycystic ovaries were increased in the F3 generation animals. Kidney and prostate disease were only observed in the direct fetally exposed F1 generation plastic lineage animals. Analysis of the plastics lineage F3 generation sperm epigenome previously identified 197 differential DNA methylation regions (DMR in gene promoters, termed epimutations. A number of these transgenerational DMR form a unique direct connection gene network and have previously been shown to correlate with the pathologies identified. Observations demonstrate that a mixture of plastic derived compounds, BPA and phthalates, can promote epigenetic transgenerational inheritance of adult onset disease. The sperm DMR provide potential epigenetic biomarkers for transgenerational disease and/or ancestral environmental exposures.

  5. Cerebrovascular accidents in patients with a ventricular assist device.

    Science.gov (United States)

    Tsukui, Hiroyuki; Abla, Adib; Teuteberg, Jeffrey J; McNamara, Dennis M; Mathier, Michael A; Cadaret, Linda M; Kormos, Robert L

    2007-07-01

    A cerebrovascular accident is a devastating adverse event in a patient with a ventricular assist device. The goal was to clarify the risk factors for cerebrovascular accident. Prospectively collected data, including medical history, ventricular assist device type, white blood cell count, thrombelastogram, and infection, were reviewed retrospectively in 124 patients. Thirty-one patients (25%) had 48 cerebrovascular accidents. The mean ventricular assist device support period was 228 and 89 days in patients with and without cerebrovascular accidents, respectively (P cerebrovascular accidents occurred within 4 months after implantation. Actuarial freedom from cerebrovascular accident at 6 months was 75%, 64%, 63%, and 33% with the HeartMate device (Thoratec Corp, Pleasanton, Calif), Thoratec biventricular ventricular assist device (Thoratec Corp), Thoratec left ventricular assist device (Thoratec), and Novacor device (WorldHeart, Oakland, Calif), respectively. Twenty cerebrovascular accidents (42%) occurred in patients with infections. The mean white blood cell count at the cerebrovascular accident was greater than the normal range in patients with infection (12,900/mm3) and without infection (9500/mm3). The mean maximum amplitude of the thrombelastogram in the presence of infection (63.6 mm) was higher than that in the absence of infection (60.7 mm) (P = .0309). The risk of cerebrovascular accident increases with a longer ventricular assist device support period. Infection may activate platelet function and predispose the patient to a cerebrovascular accident. An elevation of the white blood cell count may also exacerbate the risk of cerebrovascular accident even in patients without infection. Selection of device type, prevention of infection, and meticulous control of anticoagulation are key to preventing cerebrovascular accident.

  6. SPECT measurements of cerebral blood volume before and after acetazolamide in occlusive cerebrovascular diseases

    International Nuclear Information System (INIS)

    Inoue, Yusuke; Momose, Toshimitsu; Machida, Kikuo; Honda, Norinari; Nishikawa, Junichi; Sasaki, Yasuhito.

    1994-01-01

    Cerebral blood volume before and after acetazolamide was measured by SPECT to evaluate cerebral vasodilatory capacity in eight patients with cerebrovascular disease and five control subjects. Two SPECT measurements were performed serially, and acetazolamide was administered between them. The ratio of increase in hemispheric blood volume was calculated, and it was compared with the results of cerebral blood flow and cerebral blood volume measurements. A cerebral vasodilatory capacity map, the image after acetazolamide minus the baseline image, was also produced. Acetazolamide increased hemispheric blood volume in all subjects. The ratio of increase was lower in the involved hemispheres of the patients with unilateral carotid disease than in the uninvolved hemispheres of the patients and control subjects. The ratio of concordance with blood flow and blood volume measurements was approximated at 80%. Cerebral vasodilatory capacity mapping revealed three defects compatible with the clinical data. SPECT measurements of cerebral blood volume after acetazolamide can be performed following baseline SPECT with no additional radiotracer, and may be helpful to assess hemodynamic status. (author)

  7. Accidente cerebro-vascular en la enfermedad de Fabry: Algo más que una simple estenosis Stroke in Fabry disease: More than a simple stenosis

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    Juan Manuel Politei

    2006-10-01

    Full Text Available Se analiza la evidencia existente a la fecha sobre los mecanismos fisiopatológicos que pueden generar accidentes cerebrovasculares en la enfermedad de Fabry. Esta entidad es el resultado de la deficiencia de a-galactosidasa A, lo que resulta en depósito patológico de glicoesfingilípidos en distintas poblaciones celulares. Asociados a la insuficiencia renal y cardíaca, los accidentes cerebrovasculares pueden derivar en la muerte de los pacientes. Durante mucho tiempo el único mecanismo generador de daño vascular informado fue la oclusión vascular por depósito lipídico a nivel endotelial. En la actualidad se describen otros mecanismos. El advenimiento de la terapia de reemplazo enzimático ha generado gran expectativa en cuanto la posibilidad de reversión de estos mecanismos. Si bien la evidencia es escasa y son necesarios más estudios a largo plazo, algunos informes demuestran que luego de meses, el tratamiento ha logrado revertir algunos de los mecanismos implicados.The objective is to analyze the updated evidence on the physiopathological mechanisms that can generate cerebrovascular damage in Fabry disease. Fabry disease is the result of the deficiency of a-galactosidasa A, which causes pathological storage of glycosphingolipids, in different cells. Associated to renal and cardiac insufficiency, cerebrovascular complications can derive in the death of the patients. During a long time the only reported mechanism was the vascular occlusion by deposit of lipids at endothelial level. At the present time, other mechanisms are postulated. The arrival of enzyme replacement therapy has generated great expectation on the possibility of reversion of these alterations. Although the evidence is scarce and more long term studies are necessary, some reports demonstrate that after months, the treatment has managed to revert some of the mechanisms involved.

  8. Ambient Temperature and Cerebrovascular Hemodynamics in the Elderly.

    Science.gov (United States)

    Pan, Wen-Chi; Eliot, Melissa N; Koutrakis, Petros; Coull, Brent A; Sorond, Farzaneh A; Wellenius, Gregory A

    2015-01-01

    Some prior studies have linked ambient temperature with risk of cerebrovascular events. If causal, the pathophysiologic mechanisms underlying this putative association remain unknown. Temperature-related changes in cerebral vascular function may play a role, but this hypothesis has not been previously evaluated. We evaluated the association between ambient temperature and cerebral vascular function among 432 participants ≥65 years old from the MOBILIZE Boston Study with data on cerebrovascular blood flow, cerebrovascular resistance, and cerebrovascular reactivity in the middle cerebral artery. We used linear regression models to assess the association of mean ambient temperature in the previous 1 to 28 days with cerebrovascular hemodynamics adjusting for potential confounding factors. A 10°C increase in the 21-day moving average of ambient temperature was associated with a 10.1% (95% confidence interval [CI], 2.2%, 17.3%) lower blood flow velocity, a 9.0% (95% CI, 0.7%, 18.0%) higher cerebrovascular resistance, and a 15.3% (95%CI, 2.7%, 26.4%) lower cerebral vasoreactivity. Further adjustment for ozone and fine particulate matter (PM2.5) did not materially alter the results. However, we found statistically significant interactions between ambient temperature and PM2.5 such that the association between temperature and blood flow velocity was attenuated at higher levels of PM2.5. In this elderly population, we found that ambient temperature was negatively associated with cerebral blood flow velocity and cerebrovascular vasoreactivity and positively associated with cerebrovascular resistance. Changes in vascular function may partly underlie the observed associations between ambient temperature and risk of cerebrovascular events.

  9. Inherited leukoencephalopathies with clinical onset in middle and old age.

    Science.gov (United States)

    Nannucci, Serena; Donnini, Ida; Pantoni, Leonardo

    2014-12-15

    The currently widespread use of neuroimaging has led neurologists to often face the problem of the differential diagnosis of white matter diseases. There are various forms of leukoencephalopathies (vascular, inflammatory and immunomediated, infectious, metabolic, neoplastic) and sometimes white matter lesions are expression of a genetic disease. While many inherited leukoencephalopathies fall in the child neurologist's interest, others may have a delayed or even a typical onset in the middle or old age. This field is rapidly growing and, in the last few years, many new inherited white matter diseases have been described and genetically defined. A non-delayed recognition of middle and old age inherited leukoencephalopathies appears important to avoid unnecessary tests and therapies in the patient and to possibly anticipate the diagnosis in relatives. The aim of this review is to provide a guide to direct the diagnostic process when facing a patient with a suspicion of an inherited form of leukoencephalopathy and with clinical onset in middle or old age. Based on a MEDLINE search from 1990 to 2013, we identified 24 middle and old age onset inherited leukoencephalopathies and reviewed in this relation the most recent findings focusing on their differential diagnosis. We provide summary tables to use as a check list of clinical and neuroimaging findings that are most commonly associated with these forms of leukoencephalopathies. When present, we reported specific characteristics of single diseases. Several genetic diseases may be suspected in patients with middle or old age and white matter abnormalities. In only few instances, pathognomonic clinical or associated neuroimaging features help identifying a specific disease. Therefore, a comprehensive knowledge of the characteristics of these inherited white matter diseases appears important to improve the diagnostic work-up, optimize the choice of genetic tests, increase the number of diagnosed patients, and stimulate

  10. Alzheimer's disease, cerebrovascular dysfunction and the benefits of exercise: from vessels to neurons.

    Science.gov (United States)

    Lange-Asschenfeldt, Christian; Kojda, Georg

    2008-06-01

    Exercise training promotes extensive cardiovascular changes and adaptive mechanisms in both the peripheral and cerebral vasculature, such as improved organ blood flow, induction of antioxidant pathways, and enhanced angiogenesis and vascular regeneration. Clinical studies have demonstrated a reduction of morbidity and mortality from cardiovascular disease among exercising individuals. However, evidence from recent large clinical trials also suggests a substantial reduction of dementia risk - particularly regarding Alzheimer's disease (AD) - with regular exercise. Enhanced neurogenesis and improved synaptic plasticity have been implicated in this beneficial effect. However, recent research has revealed that vascular and specifically endothelial dysfunction is essentially involved in the disease process and profoundly aggravates underlying neurodegeneration. Moreover, vascular risk factors (VRFs) are probably determinants of incidence and course of AD. In this review, we emphasize the interconnection between AD and VRFs and the impact of cerebrovascular and endothelial dysfunction on AD pathophysiology. Furthermore, we describe the molecular mechanisms of the beneficial effects of exercise on the vasculature such as activation of the vascular nitric oxide (NO)/endothelial NO synthase (eNOS) pathway, upregulation of antioxidant enzymes, and angiogenesis. Finally, recent prospective clinical studies dealing with the effect of exercise on the risk of incident AD are briefly reviewed. We conclude that, next to upholding neuronal plasticity, regular exercise may counteract AD pathophysiology by building a vascular reserve.

  11. Regional brain metabolite abnormalities in inherited prion disease and asymptomatic gene carriers demonstrated in vivo by quantitative proton magnetic resonance spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Waldman, A.D.; Cordery, R.J.; Godbolt, A.; Rossor, M.N. [University College London, Dementia Research Group, Department of Neurodegenerative Disease, Institute of Neurology, London (United Kingdom); Imperial College of Science, Technology and Medicine, Division of Neuroscience and Psychological Medicine, Faculty of Medicine, London (United Kingdom); MacManus, D.G. [University College London, NMR Research Unit, Department of Clinical Neurology, Institute of Neurology, London (United Kingdom); Collinge, J. [University College London, MRC Prion Unit, Department of Neurodegenerative Disease, Institute of Neurology, London (United Kingdom)

    2006-06-15

    Inherited prion diseases are caused by mutations in the gene which codes for prion protein (PrP), leading to proliferation of abnormal PrP isomers in the brain and neurodegeneration; they include Gerstmann-Straeussler-Scheinker disease (GSS), fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD). We studied two patients with symptomatic inherited prion disease (P102L) and two pre-symptomatic P102L gene carriers using quantitative magnetic resonance spectroscopy (MRS). Short echo time spectra were acquired from the thalamus, caudate region and frontal white matter, metabolite levels and ratios were measured and z-scores calculated for individual patients relative to age-matched normal controls. MRS data were compared with structural magnetic resonance imaging. One fCJD case had generalised atrophy and showed increased levels of myo-inositol (MI) in the thalamus (z=3.7). The other had decreased levels of N-acetylaspartate (z=4) and diffuse signal abnormality in the frontal white matter. Both asymptomatic gene carriers had normal imaging, but increased frontal white matter MI (z=4.3, 4.1), and one also had increased MI in the caudate (z=5.3). Isolated MI abnormalities in asymptomatic gene carriers are a novel finding and may reflect early glial proliferation, prior to significant neuronal damage. MRS provides potential non-invasive surrogate markers of early disease and progression in inherited prion disease. (orig.)

  12. Regional brain metabolite abnormalities in inherited prion disease and asymptomatic gene carriers demonstrated in vivo by quantitative proton magnetic resonance spectroscopy

    International Nuclear Information System (INIS)

    Waldman, A.D.; Cordery, R.J.; Godbolt, A.; Rossor, M.N.; MacManus, D.G.; Collinge, J.

    2006-01-01

    Inherited prion diseases are caused by mutations in the gene which codes for prion protein (PrP), leading to proliferation of abnormal PrP isomers in the brain and neurodegeneration; they include Gerstmann-Straeussler-Scheinker disease (GSS), fatal familial insomnia (FFI) and familial Creutzfeldt-Jakob disease (fCJD). We studied two patients with symptomatic inherited prion disease (P102L) and two pre-symptomatic P102L gene carriers using quantitative magnetic resonance spectroscopy (MRS). Short echo time spectra were acquired from the thalamus, caudate region and frontal white matter, metabolite levels and ratios were measured and z-scores calculated for individual patients relative to age-matched normal controls. MRS data were compared with structural magnetic resonance imaging. One fCJD case had generalised atrophy and showed increased levels of myo-inositol (MI) in the thalamus (z=3.7). The other had decreased levels of N-acetylaspartate (z=4) and diffuse signal abnormality in the frontal white matter. Both asymptomatic gene carriers had normal imaging, but increased frontal white matter MI (z=4.3, 4.1), and one also had increased MI in the caudate (z=5.3). Isolated MI abnormalities in asymptomatic gene carriers are a novel finding and may reflect early glial proliferation, prior to significant neuronal damage. MRS provides potential non-invasive surrogate markers of early disease and progression in inherited prion disease. (orig.)

  13. Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature

    Energy Technology Data Exchange (ETDEWEB)

    Cakmakci, Handan, E-mail: handan.cakmakci@deu.edu.t [Dokuz Eylul University Faculty of Medicine, Department of Radiology, Izmir (Turkey); Pekcevik, Yeliz [Dokuz Eylul University Faculty of Medicine, Department of Radiology, Izmir (Turkey); Yis, Uluc [Dokuz Eylul University Faculty of Medicine, Department of Pediatric Neurology, Izmir (Turkey); Unalp, Aycan [Behcet Uz Hospital, Department of Pediatric Neurology, Izmir (Turkey); Kurul, Semra [Dokuz Eylul University Faculty of Medicine, Department of Pediatric Neurology, Izmir (Turkey)

    2010-06-15

    The purpose of this study is to evaluate parenchymal diffusion properties and metabolite ratios in affected brain tissues of inherited neurometabolic brain diseases with an overview of the current literature about the diagnostic data of both techniques in childhood inherited metabolic brain diseases. The study group was consisting, 19 patients (15 males, 4 females; mean age, 54 months (4.5 years); age range, 1-171 months (14.25 years)) diagnosed with inherited neurometabolic brain disease. Single- and multivoxel proton MRS was carried out and NAA/Cr, Cho/Cr, mI/Cr, Glx/Cr ratios were calculated. Presence of lactate peak and abnormal different peaks were noted. ADC values were calculated from brain lesions. Results are compared with age and sex matched normal subjects. Elevated NAA/Cr ratio (Canavan disease), galactitol peak (galactosemia) at 3.7 ppm, branched chain amino acids (Maple syrup urine disease-MSUD) at 0.9 ppm were seen on different diseases. In Leigh disease and MSUD restricted diffusion was detected. Different diffusion properties were seen only in one Glutaric aciduria lesions. NAA/Cr ratios and calculated ADC values were significantly different from normal subjects (p < 0.05). DWI combined with MRS are complementary methods to routine cranial MRI for evaluating neurometabolic diseases which can give detailed information about neurochemistry of affected brain areas.

  14. Diagnostic value of proton MR spectroscopy and diffusion-weighted MR imaging in childhood inherited neurometabolic brain diseases and review of the literature

    International Nuclear Information System (INIS)

    Cakmakci, Handan; Pekcevik, Yeliz; Yis, Uluc; Unalp, Aycan; Kurul, Semra

    2010-01-01

    The purpose of this study is to evaluate parenchymal diffusion properties and metabolite ratios in affected brain tissues of inherited neurometabolic brain diseases with an overview of the current literature about the diagnostic data of both techniques in childhood inherited metabolic brain diseases. The study group was consisting, 19 patients (15 males, 4 females; mean age, 54 months (4.5 years); age range, 1-171 months (14.25 years)) diagnosed with inherited neurometabolic brain disease. Single- and multivoxel proton MRS was carried out and NAA/Cr, Cho/Cr, mI/Cr, Glx/Cr ratios were calculated. Presence of lactate peak and abnormal different peaks were noted. ADC values were calculated from brain lesions. Results are compared with age and sex matched normal subjects. Elevated NAA/Cr ratio (Canavan disease), galactitol peak (galactosemia) at 3.7 ppm, branched chain amino acids (Maple syrup urine disease-MSUD) at 0.9 ppm were seen on different diseases. In Leigh disease and MSUD restricted diffusion was detected. Different diffusion properties were seen only in one Glutaric aciduria lesions. NAA/Cr ratios and calculated ADC values were significantly different from normal subjects (p < 0.05). DWI combined with MRS are complementary methods to routine cranial MRI for evaluating neurometabolic diseases which can give detailed information about neurochemistry of affected brain areas.

  15. Lack of nocturnal blood pressure fall in elderly bedridden hypertensive patients with cerebrovascular disease.

    Science.gov (United States)

    Sasaki, Masato; Ando, Hitoshi; Fujimura, Akio

    2012-02-01

    To prevent recurrence of cerebrovascular disease (CVD), adequate control of blood pressure (BP) is extremely important for the treatment of hypertensive CVD patients. As absence of the nocturnal fall of BP by the expected 10-20% from daytime levels is reported to exaggerate target organ injury, 24-h ambulatory blood pressure monitoring (ABPM) was conducted, especially to obtain data during nighttime sleep. Forty-eight elderly bedridden chronic phase CVD hypertensive patients (assessed 1-3 mo after CVD accident) participated. As a group, nocturnal BP was higher than diurnal BP, whereas nocturnal pulse rate was lower than diurnal pulse rate. The nocturnal BP fall was blunted in most (∼90%) of the patients. These results suggest that to perform a rational drug treatment, it is essential to do 24-h ABPM before initiation of antihypertensive therapy in elderly bedridden hypertensive CVD patients.

  16. Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes.

    Science.gov (United States)

    Astuti, Galuh D N; van den Born, L Ingeborgh; Khan, M Imran; Hamel, Christian P; Bocquet, Béatrice; Manes, Gaël; Quinodoz, Mathieu; Ali, Manir; Toomes, Carmel; McKibbin, Martin; El-Asrag, Mohammed E; Haer-Wigman, Lonneke; Inglehearn, Chris F; Black, Graeme C M; Hoyng, Carel B; Cremers, Frans P M; Roosing, Susanne

    2018-01-10

    Inherited retinal diseases (IRDs) display an enormous genetic heterogeneity. Whole exome sequencing (WES) recently identified genes that were mutated in a small proportion of IRD cases. Consequently, finding a second case or family carrying pathogenic variants in the same candidate gene often is challenging. In this study, we searched for novel candidate IRD gene-associated variants in isolated IRD families, assessed their causality, and searched for novel genotype-phenotype correlations. Whole exome sequencing was performed in 11 probands affected with IRDs. Homozygosity mapping data was available for five cases. Variants with minor allele frequencies ≤ 0.5% in public databases were selected as candidate disease-causing variants. These variants were ranked based on their: (a) presence in a gene that was previously implicated in IRD; (b) minor allele frequency in the Exome Aggregation Consortium database (ExAC); (c) in silico pathogenicity assessment using the combined annotation dependent depletion (CADD) score; and (d) interaction of the corresponding protein with known IRD-associated proteins. Twelve unique variants were found in 11 different genes in 11 IRD probands. Novel autosomal recessive and dominant inheritance patterns were found for variants in Small Nuclear Ribonucleoprotein U5 Subunit 200 ( SNRNP200 ) and Zinc Finger Protein 513 ( ZNF513 ), respectively. Using our pathogenicity assessment, a variant in DEAH-Box Helicase 32 ( DHX32 ) was the top ranked novel candidate gene to be associated with IRDs, followed by eight medium and lower ranked candidate genes. The identification of candidate disease-associated sequence variants in 11 single families underscores the notion that the previously identified IRD-associated genes collectively carry > 90% of the defects implicated in IRDs. To identify multiple patients or families with variants in the same gene and thereby provide extra proof for pathogenicity, worldwide data sharing is needed.

  17. The Molecular Revolution in Cutaneous Biology: Era of Molecular Diagnostics for Inherited Skin Diseases.

    Science.gov (United States)

    McGrath, John A

    2017-05-01

    The discovery of pathogenic mutations in inherited skin diseases represents one of the major landmarks of late 20th century molecular genetics. Mutation data can provide accurate diagnoses, improve genetic counseling, help define disease mechanisms, establish disease models, and provide a basis for translational research and testing of novel therapeutics. The process of detecting disease mutations, however, has not always been straightforward. Traditional approaches using genetic linkage or candidate gene analysis have often been limited, costly, and slow to yield new insights, but the advent of next-generation sequencing (NGS) technologies has altered the landscape of current gene discovery and mutation detection approaches. Copyright © 2017 The Author. Published by Elsevier Inc. All rights reserved.

  18. FAMILY ANAMNESIS OF CHILDREN WITH MUTATION OF THE INHERITED HEMOCHROMATOSIS

    Directory of Open Access Journals (Sweden)

    S.I. Polyakova

    2010-01-01

    Full Text Available The inherited burdened is studied on diseases, associated with an overload iron in 41 children with frequent mutations of the inherited hemochromatosis (IG of a 1 type (C282y, H63d, S65c. Control group was made by 27 children with undiscovered frequent mutations of NG. Frequencies of iron-associated diseases are compared for 560 members of families which have children with mutations of IG and 390 members of families which have children without IG mutations. Some features of medical-genealogical anamnesis, which can be conditioned of siderosis, are exposed, and indirectly specify in the presence of mutations in the gene of HFE. So, the high frequency of oncologic diseases, diabetes mellitus, hepatocirrhosis and deaths of relatives under the age of 50 years are the foundation for research of exchange of iron and holding of molecular-genetic research of the inherited hemochromatosis. Key words: inherited hemochromatosis, heredity, children. (Pediatric Pharmacology. – 2010; 7(3:52-56

  19. Ultra-sensitive molecular MRI of cerebrovascular cell activation enables early detection of chronic central nervous system disorders

    International Nuclear Information System (INIS)

    Montagne, Axel; Gauberti, Maxime; Jullienne, Amandine; Briens, Aurelien; Docagne, Fabian; Vivien, Denis; Maubert, Eric; Macrez, Richard; Defer, Gilles; Raynaud, Jean-Sebastien; Louin, Gaelle; Buisson, Alain; Haelewyn, Benoit

    2012-01-01

    Since endothelial cells can be targeted by large contrast-carrying particles, molecular imaging of cerebrovascular cell activation is highly promising to evaluate the underlying inflammation of the central nervous system (CNS). In this study, we aimed to demonstrate that molecular magnetic resonance imaging (MRI) of cerebrovascular cell activation can reveal CNS disorders in the absence of visible lesions and symptoms. To this aim, we optimized contrast carrying particles targeting vascular cell adhesion molecule-1 and MRI protocols through both in vitro and in vivo experiments. Although, pre-contrast MRI images failed to reveal the ongoing pathology, contrast-enhanced MRI revealed hypoperfusion-triggered CNS injury in vascular dementia, unmasked amyloid-induced cerebrovascular activation in Alzheimer's disease and allowed monitoring of disease activity during experimental autoimmune encephalomyelitis. Moreover, contrast-enhanced MRI revealed the cerebrovascular cell activation associated with known risk factors of CNS disorders such as peripheral inflammation, ethanol consumption, hyperglycemia and aging. By providing a dramatically higher sensitivity than previously reported methods and molecular contrast agents, the technology described in the present study opens new avenues of investigation in the field of neuro-inflammation. (authors)

  20. A novel method for objective vision testing in canine models of inherited retinal disease.

    Science.gov (United States)

    Gearhart, Patricia M; Gearhart, Chris C; Petersen-Jones, Simon M

    2008-08-01

    The use of canine models of retinal disease in the development of therapeutic strategies for inherited retinal disorders is a growing area of research. To evaluate accurately the success of potential vision-enhancing treatments, reliable methods for objectively assessing visual function in canine models is necessary. A simple vision-testing device was constructed that consisted of a junction box with four exit tunnels. Dogs were placed in the junction box and given one vision-based choice for exit. The first-choice tunnel and time to exit were recorded and analyzed. Two canine models of retinal disease with distinct molecular defects, a null mutation in the gene encoding the alpha subunit of rod cyclic GMP phosphodiesterase (PDE6A), and a null mutation in the gene encoding a retinal pigment epithelium-specific protein (RPE65) were tested and compared to those in unaffected dogs. With the use of bright light versus dim red light, the test differentiated between unaffected dogs and dogs affected with either mutation with a high degree of certainty. The white-light intensity series showed a significantly different performance between the unaffected and affected dogs. A significant difference in performance was detected between the dogs with each mutation. The results indicate that this novel canine vision-testing method is an accurate and sensitive means of distinguishing between unaffected dogs and dogs affected with two different forms of inherited retinal disease and should be useful as a means of assessing response to therapy in future studies.

  1. Is beta-thalassemia trait a protective factor against ischemic cerebrovascular accidents?

    Science.gov (United States)

    Karimi, Mehran; Borhani Haghighi, Afshin; Yazdani, Maryam; Raisi, Hamideh; Giti, Rahil; Namazee, Mohammad Reza

    2008-01-01

    In this research, we sought to determine the association between beta-thalassemia trait and ischemic cerebrovascular accident (CVA). In acase-control study, 148 patients with thromboembolic cerebrovascular events were evaluated for the presence of hypertension, diabetes mellitus, hyperlipidemia, and beta-thalassemia trait. A total of 156 age- and sex-matched patients with no cardiac or cerebrovascular diseases, serving as the control group, were also investigated for the above-mentioned risk factors. We found that 6.1% of patients with ischemic CVA and 12.2% of the control group had beta-thalassemia trait (P = .066). In male patients, the negative association between ischemic CVA and presence of beta-thalassemia trait was significant (P = .008). In patients, the prevalence of hypertension was also significantly different between those with and without beta-thalassemia trait (P = .01); those with beta-thalassemia trait had a lower mean blood pressure than those without the trait. beta-Thalassemia trait may have a protective effect against ischemic CVA that might be caused by the lower arterial blood pressure observed in those with this trait.

  2. Clinical Characteristics and Current Therapies for Inherited Retinal Degenerations

    Science.gov (United States)

    Sahel, José-Alain; Marazova, Katia; Audo, Isabelle

    2015-01-01

    Inherited retinal degenerations (IRDs) encompass a large group of clinically and genetically heterogeneous diseases that affect approximately 1 in 3000 people (>2 million people worldwide) (Bessant DA, Ali RR, Bhattacharya SS. 2001. Molecular genetics and prospects for therapy of the inherited retinal dystrophies. Curr Opin Genet Dev 11: 307–316.). IRDs may be inherited as Mendelian traits or through mitochondrial DNA, and may affect the entire retina (e.g., rod–cone dystrophy, also known as retinitis pigmentosa, cone dystrophy, cone–rod dystrophy, choroideremia, Usher syndrome, and Bardet-Bidel syndrome) or be restricted to the macula (e.g., Stargardt disease, Best disease, and Sorsby fundus dystrophy), ultimately leading to blindness. IRDs are a major cause of severe vision loss, with profound impact on patients and society. Although IRDs remain untreatable today, significant progress toward therapeutic strategies for IRDs has marked the past two decades. This progress has been based on better understanding of the pathophysiological pathways of these diseases and on technological advances. PMID:25324231

  3. Homocysteine and cerebrovascular accidents.

    Science.gov (United States)

    Datta, Saikat; Pal, Salil K; Mazumdar, Hirak; Bhandari, Biswanath; Bhattacherjee, Sharmistha; Pandit, Sudipta

    2009-06-01

    Hyperhomocysteinaemia is rapidly emerging as an important risk factor for coronary artery disease, possibly because of its propensity to accelerate atherosclerosis. Whether it is also a risk factor for cerebrovascular accidents (CVA) is a matter of debate till now, as there are conflicting results of the various prospective studies. The present study was performed to correlate the levels of plasma homocysteine levels with that of ischaemic and haemorrhagic CVA. Forty-two cases of CVA were randomly selected over a period of one year, and their risk factors were assessed. It was observed that serum homocysteine levels were significantly raised in those with intracerebral infarcts when compared to those with intracerebral haemorrhage, although homocysteine levels didn't prove to be prognostically significant.

  4. The Different Effects Of Endogenous And Exogenous Sex Hormones On Cerebrovascular Diseases

    Directory of Open Access Journals (Sweden)

    Mehdi Shafiee Sabet

    2017-02-01

    Full Text Available Background: A sexual dimorphism is seen in ischemic stroke. Women have lower stroke incidence than men until an advanced age, when the epidemiology of ischemic stroke shifts and incidence rises dramatically in women. This could indicate the role of sex hormones in pathogenesis of cerebrovascular diseases. This Review summarizes the sex differences related to stroke, and the effects of endogenous and exogenAous hormones on the cerebrovasculature of the male and female brain. Methods: We conducted a vast review to analyze possible associations between exposure to endogenous and exogenous female and male steroid hormones and the risks of cerebrovascular diseases. This association is discussed in the context of the effects of sex hormone levels on the progression of atherosclerosis, the vascular tone, and various risk factors including patient's lipid profile, arterial blood pressure and diabetes. Their therapeutic potentials is also reviewed. Results: There is a debate on the role of androgens. A large array of data testifies in favor of a variety of neuroprotective androgen effects in men mostly, but in many cases in women as well. Testosterone supplementation in low to normal levels in hypogonadal men has mostly been shown to benefit the subjects receiving it, but administration in supraphysiological doses however, along with anabolic steroid abuse, seems to adversely affect both the lipid profile and insulin sensitivity in men. Its effects in women have yet to be researched in depth. Due to the lower stroke incidence observed in pre-menopausal women and robust preclinical evidence of neuroprotective and anti-inflammatory properties of estrogen, researchers have focused on the potential benefits of hormones to reduce ischemic brain injury. However, hormone therapy to postmenopausal females increases the risk and severity of ischemic stroke. Moreover, while estrogen treatment is neuroprotective in younger females, estrogen paradoxically increases

  5. Blunt cerebrovascular injuries in trauma.

    Science.gov (United States)

    Eastham, Shannon

    2016-09-01

    Blunt cerebrovascular injury (BCVI) includes trauma to the carotid or vertebral vessels and is noted in 0.1% of hospitalized trauma patients without an initial screening system in place. Several important topics must be addressed including determination of the appropriate screening population, the best modality of screening for diagnosis, treatment types, and required follow-up of blunt cerebrovascular injuries. Copyright © 2015 IJS Publishing Group Ltd. Published by Elsevier Ltd. All rights reserved.

  6. Cerebrovascular accidents in adult patients with congenital heart disease.

    Science.gov (United States)

    Hoffmann, A; Chockalingam, P; Balint, O H; Dadashev, A; Dimopoulos, K; Engel, R; Schmid, M; Schwerzmann, M; Gatzoulis, M A; Mulder, B; Oechslin, E

    2010-08-01

    To investigate the prevalence and characteristics of cerebrovascular accidents (CVA) in a large population of adults with congenital heart disease (CHD). In a retrospective analysis of aggregated European and Canadian databases a total population of 23 153 patients with CHD was followed up to the age of 16-91 years (mean 36.4 years). Among them, 458 patients (2.0%) had one or more CVA, with an estimated event rate of 0.05% per patient-year. Permanent neurological sequelae were noted in 116 patients (25.3%). The prevalence of CVA in selected diagnostic categories was as follows: open atrial septal defect 93/2351 (4.0%); closed atrial or ventricular septal defect 57/4035 (1.4%); corrected tetralogy of Fallot 52/2196 (2.4%); Eisenmenger physiology 24/467 (5.1%); other cyanotic 50/215 (23.3%); mechanical prostheses (29/882 (3.3%). Associated conditions in patients with CVA were absence of sinus rhythm (25%), transvenous pacemakers (7%), endocarditis (2%), cardiac surgery (11%) and catheter intervention (2%), but with the exception of absent sinus rhythm these were not significantly more prevalent in patients with CVA. CVA are a major contributor to morbidity in this young population despite absence of classical cardiovascular risk factors. Although the prevalence of CVA in patients with CHD appears low, it is 10-100 times higher than expected in control populations of comparable age. Residua occur in a strong minority of patients. The subjects at highest risk are those patients with CHD with cyanotic lesions, in whom the prevalence is over 10-fold above the average.

  7. Effect of Dan seven soft capsule adjuvant therapy on serum inflammatory factors, coagulation function and blood rheology indexes in patients with acute hemorrhagic cerebrovascular disease

    Directory of Open Access Journals (Sweden)

    Shu-Hua Gui

    2017-08-01

    Full Text Available Objective: To investigate the effect of Dan seven soft capsule on the treatment of acute hemorrhagic cerebrovascular disease and the influence of serum inflammatory factors, coagulation function and blood rheology indexes. Methods: A total of 112 cases of patients with acute hemorrhagic cerebrovascular disease, according to the random data table were divided into the control group (n=57 and observation group (n=55, the patients in the control group received routine treatment combined with edaravone, on the basis of the treatment of the control group, the observation group was treated with Dan seven soft capsule. The serum levels of inflammatory factors, coagulation function and blood rheology indexes were compared between the two groups before and after treatment. Results: Before treatment, there were no significant difference in the inflammatory factors (hs-CRP, TNF-α and IL-6, blood coagulation function (FIB, PT and APTT and hemorheology (high cut whole blood viscosity, low cut whole blood viscosity and plasma viscosity levels between the control group and observation group. Compared with the levels of the same group before treatment, two groups of hs-CRP, TNF-α, IL-6, FIB, high cut whole blood viscosity, low cut whole blood viscosity and plasma viscosity level after treatment were significantly decreased, and levels in the observation group were significantly lower than those in the control group; Compared with the group before treatment, the levels of PT and APTT in the two groups were significantly increased, and the observation group was significantly higher than the control group. Conclusion: Dan seven soft capsule in the treatment of acute hemorrhagic cerebrovascular disease can effectively reduce the level of serum inflammatory factors, improve coagulation function and blood rheology index, it has an important clinical value.

  8. The group study of diagnostic efficacy of cerebro-vascular disease by I-123 IMP SPECT images obtained with ring type SPECT scanner

    International Nuclear Information System (INIS)

    Machida, Kikuo; Honda, Norinari; Matsumoto, Toru

    1991-01-01

    We performed two image reading experiments in order to investigate the diagnostic capability of I-123 IMP SPECT obtained by the ring type SPECT scanner in cerebro-vascular disease. Fourteen physicians diagnosed SPECT images of 55 cases with reference to clinical neurological information, first without brain XCT images and second with XCT images. Each physician detected perfusion defects and redistributions of I-123 IMP and assigned a confidence level of abnormality for these SPECT findings by means of five rating method. From results obtained by ROC analysis, we concluded as follows. (1) Generally, I-123 IMP SPECT is a stable diagnostic modality in the diagnosis of cerebro-vascular disease and the image reading of XCT had no effects on the diagnosis of SPECT on the whole of physician. (2) However, there were unnegligible differences among individuals in the detectability of findings and the effect of XCT image reading. (3) Detectability of redistribution of I-123 IMP was lower than that of perfusion defect and inter-observer variation in the diagnostic performance for redistribution was larger than that of perfusion defect. The results suggest that it is necessary to standardize diagnostic criteria among physicians for redistribution of I-123 IMP. (author)

  9. Study of lymphocyte sensitization to protein S-100 in the patients with cerebrovascular diseases, suffered due to Chernobyl NPP accident

    International Nuclear Information System (INIS)

    Khomenko, V.Yi.

    2004-01-01

    Among the persons with cerebrovascular diseases, suffered due to Chernobyl NPP accident two groups of patients were revealed: with DNA coloration coefficients in response to protein S-100 stimulation below and above 1. Patients with DNA coloration coefficients <1 were older, they had statistically significant lower monocytes and T-activated lymphocytes absolute counts as well as increased content of cholesterol-2 and circulating immune complexes. Charges found there suggested possible existence of different pathways of immune response to antigenic stimulation by S-100 protein

  10. Human Induced Pluripotent Stem Cell-Derived Cardiomyocytes Afford New Opportunities in Inherited Cardiovascular Disease Modeling

    Directory of Open Access Journals (Sweden)

    Daniel R. Bayzigitov

    2016-01-01

    Full Text Available Fundamental studies of molecular and cellular mechanisms of cardiovascular disease pathogenesis are required to create more effective and safer methods of their therapy. The studies can be carried out only when model systems that fully recapitulate pathological phenotype seen in patients are used. Application of laboratory animals for cardiovascular disease modeling is limited because of physiological differences with humans. Since discovery of induced pluripotency generating induced pluripotent stem cells has become a breakthrough technology in human disease modeling. In this review, we discuss a progress that has been made in modeling inherited arrhythmias and cardiomyopathies, studying molecular mechanisms of the diseases, and searching for and testing drug compounds using patient-specific induced pluripotent stem cell-derived cardiomyocytes.

  11. Positron emission tomography of cerebrovascular disorders

    International Nuclear Information System (INIS)

    Tanaka, Makoto; Hirai, Shunsaku; Kondo, Susumu; Ishiguro, Koji; Yamazaki, Tsuneo

    1989-01-01

    The pathogenesis of cerebrovascular disorders which present PET findings significantly different from those by XCT were studied. The PET study was performed using a steady state method of 15 O 2 and C 15 O 2 inhalation. The XCT was obtained simultaneously. Seventeen cases with marked discrepancies between XCT and PET findings were selected from 50 cases with cerebrovascular disorders. Twenty-two findings, shown by PET but not by XCT, from the 17 cases were classified into three major groups on the basis of pathogenesis. Group I was composed of nine cases suffering from ischemic stroke either without any cerebral cortical structural abnormalities or with an organic lesion not revealed by XCT. Ischemic penumbra or allied mechanism may explain the discrepancy in this group. Perfusion and metabolic decreases in the 11 patients in Group II were caused by the transneuronal effects (diaschisis) of stroke; cortical effect of a small white matter infarction; cortical effect of thalamic hemorrhage; and an effect of a cerebral hemispheric lesion on the contralateral cerebellar hemisphere (crossed cerebellar diaschisis). Group III consisted of two cases studied in a period of prominent fogging effect. Regional cerebral blood flow (CBF) and metabolic rates of oxygen (CMRO 2 ) of the cerebral cortex or cerebellar hemisphere were measured in the area where perfusional and/or metabolic changes were demonstrated and in the corresponding area in the contralateral hemisphere. Reduction rates of CBF and CMRO 2 in the former to those in the latter were calculated. Evaluation of the functional images in PET depends primarily on visual and qualitative analyses. The comparison of radioactivities in a diseased region and in a reference region can inform a semiquantitative parameter in SPECT. The reduction rates of CBF and CMRO 2 in PET will serve as a good guide to evaluate the parameter in SPECT of cerebrovascular disorders. (J.P.N.)

  12. Cerebrovascular Accidents Associated with Sorafenib in Hepatocellular Carcinoma

    OpenAIRE

    Saif, Muhammad W.; Isufi, Iris; Peccerillo, Jennifer; Syrigos, Kostas N.

    2011-01-01

    Sorafenib is an oral angiogenetic multikinase inhibitor approved in the treatment of renal and hepatocellular carcinoma. Bleeding and venous thrombotic events have been described with angiogenetic agents but cerebrovascular accidents are rarely reported. We report two cases of patients with hepatocellular carcinoma who developed a cerebrovascular accident while on sorafenib. Neither patient had any risk factors for the cerebrovascular events apart from gender and age in the second patient. La...

  13. High-intensity interval exercise and cerebrovascular health: curiosity, cause, and consequence.

    Science.gov (United States)

    Lucas, Samuel J E; Cotter, James D; Brassard, Patrice; Bailey, Damian M

    2015-06-01

    Exercise is a uniquely effective and pluripotent medicine against several noncommunicable diseases of westernised lifestyles, including protection against neurodegenerative disorders. High-intensity interval exercise training (HIT) is emerging as an effective alternative to current health-related exercise guidelines. Compared with traditional moderate-intensity continuous exercise training, HIT confers equivalent if not indeed superior metabolic, cardiac, and systemic vascular adaptation. Consequently, HIT is being promoted as a more time-efficient and practical approach to optimize health thereby reducing the burden of disease associated with physical inactivity. However, no studies to date have examined the impact of HIT on the cerebrovasculature and corresponding implications for cognitive function. This review critiques the implications of HIT for cerebrovascular function, with a focus on the mechanisms and translational impact for patient health and well-being. It also introduces similarly novel interventions currently under investigation as alternative means of accelerating exercise-induced cerebrovascular adaptation. We highlight a need for studies of the mechanisms and thereby also the optimal dose-response strategies to guide exercise prescription, and for studies to explore alternative approaches to optimize exercise outcomes in brain-related health and disease prevention. From a clinical perspective, interventions that selectively target the aging brain have the potential to prevent stroke and associated neurovascular diseases.

  14. Thyroid diseases and cerebrovascular disease

    NARCIS (Netherlands)

    Squizzato, A.; Gerdes, V. E. A.; Brandjes, D. P. M.; Büller, H. R.; Stam, J.

    2005-01-01

    Background and Purpose-Acute cerebral ischemia has been described in different diseases of the thyroid gland, and not only as a result of thyrotoxic atrial fibrillation and cardioembolic stroke. The purpose of this review is to summarize the studies on the relationship between thyroid diseases and

  15. Epigenetic transgenerational inheritance of vinclozolin induced mouse adult onset disease and associated sperm epigenome biomarkers.

    Science.gov (United States)

    Guerrero-Bosagna, Carlos; Covert, Trevor R; Haque, Md M; Settles, Matthew; Nilsson, Eric E; Anway, Matthew D; Skinner, Michael K

    2012-12-01

    The endocrine disruptor vinclozolin has previously been shown to promote epigenetic transgenerational inheritance of adult onset disease in the rat. The current study was designed to investigate the transgenerational actions of vinclozolin on the mouse. Transient exposure of the F0 generation gestating female during gonadal sex determination promoted transgenerational adult onset disease in F3 generation male and female mice, including spermatogenic cell defects, testicular abnormalities, prostate abnormalities, kidney abnormalities and polycystic ovarian disease. Pathology analysis demonstrated 75% of the vinclozolin lineage animals developed disease with 34% having two or more different disease states. Interestingly, the vinclozolin induced transgenerational disease was observed in the outbred CD-1 strain, but not the inbred 129 mouse strain. Analysis of the F3 generation sperm epigenome identified differential DNA methylation regions that can potentially be utilized as epigenetic biomarkers for transgenerational exposure and disease. Copyright © 2012 Elsevier Inc. All rights reserved.

  16. Modificación de conocimientos y estilos de vida en adultos mayores con enfermedad cerebrovascular Modification to knowledge and lifestyles in older adults with cerebrovascular diseases

    Directory of Open Access Journals (Sweden)

    Leidys Proenza Fernández

    2012-10-01

    Full Text Available Se realizó un estudio cuasiexperimental de intervención educativa en 26 pacientes mayores de 60 años pertenecientes a los Consultorios Médicos de Familia 5 y 16 de la Policlínica III "René Vallejo Ortiz" de Manzanillo, desde mayo del 2010 hasta igual mes del 2011, a fin de modificar sus conocimientos y estilos de vida sobre los factores de riesgo de la enfermedad cerebrovascular. Se confeccionó un formulario y una encuesta con vistas a determinar las necesidades de aprendizaje sobre el tema y se utilizó la prueba de los signos para la validación estadística de los hallazgos. En la casuística, el factor de riesgo predominante resultó ser la hipertensión arterial. Además, se comprobó que después de la aplicación del programa educativo mejoró el nivel de conocimientos sobre el tema y fue modificado el estilo de vida de estos adultos mayores.A quasi-experimental study of educational intervention was carried out in 26 patients older than 60 years from the Doctor's Offices 5 and 16 belonging to "René Vallejo Ortiz" Polyclinic III in Manzanillo, from May 2010 to May 2011, in order to modify their knowledge and lifestyles about risk factors for cerebrovascular disease. A questionnaire and a survey were made to determine the needs of learning on the subject and the sign test was used for the statistical validation of findings. In the case series the predominant risk factor was found to be hypertension. Furthermore, it was confirmed that after the implementation of the educational program the level of knowledge about the subject improved and the lifestyle of these older adults was modified.

  17. Addition computed tomography with stable xenon; Special reference to ischemic cerebrovascular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Touho, Hajime; Karasawa, Jun; Shishido, Hisashi; Yamada, Keisuke; Shibamoto, Keiji [Osaka Neurological Inst., Toyonaka (Japan)

    1990-09-01

    Stable xenon (Xe{sup s}) is used as a contrast agent because it freely diffuses to cerebral tissues through the blood-brain barrier. In this study, 2 axial levels for Xe{sup s} enhancement analysis were selected from a baseline series of computed tomographic (CT) scans and 6 serial CT scans were obtained every 20 seconds for each scan level during the 240 seconds inhalation period of 30% Xe{sup s} in 10 volunteer controls and in 52 patients with ischemic cerebrovascular diseases (ICVD). The serial CT scans were added and averaged in each pixel. This was used to make a new CT picture (addition CT scans). The CT scans before the Xe{sup s} inhalation, the scan at the end of the Xe{sup s} inhalation, and the addition CT scan were compared to see whether gray matter and ischemic areas could be differentiated from white matter. The addition CT scans could differentiate the three structures very well in both the acute and chronic stages of ICVD. This technique is thought to be a very simple and useful method to detect the small infarcted areas and low perfusion areas that cannot be visualized on precontrast CT scans. (author).

  18. Association of Retinopathy and Retinal Microvascular Abnormalities With Stroke and Cerebrovascular Disease.

    Science.gov (United States)

    Hughes, Alun D; Falaschetti, Emanuela; Witt, Nicholas; Wijetunge, Sumangali; Thom, Simon A McG; Tillin, Therese; Aldington, Steve J; Chaturvedi, Nish

    2016-11-01

    Abnormalities of the retinal circulation may be associated with cerebrovascular disease. We investigated associations between retinal microvascular abnormalities and (1) strokes and subclinical cerebral infarcts and (2) cerebral white matter lesions in a UK-based triethnic population-based cohort. A total of 1185 participants (age, 68.8±6.1 years; 77% men) underwent retinal imaging and cerebral magnetic resonance imaging. Cerebral infarcts and white matter hyperintensities were identified on magnetic resonance imaging, retinopathy was graded, and retinal vessels were measured. Higher retinopathy grade (odds ratio [OR], 1.40 [95% confidence interval (95% CI), 1.16-1.70]), narrower arteriolar diameter (OR, 0.98 [95% CI, 0.97-0.99]), fewer symmetrical arteriolar bifurcations (OR, 0.84 [95% CI, 0.75-0.95]), higher arteriolar optimality deviation (OR, 1.16 [95% CI, 1.00-1.34]), and more tortuous venules (OR, 1.20 [95% CI, 1.09-1.32]) were associated with strokes/infarcts and white matter hyperintensities. Associations with quantitative retinal microvascular measures were independent of retinopathy. Abnormalities of the retinal microvasculature are independently associated with stroke, cerebral infarcts, and white matter lesions. © 2016 American Heart Association, Inc.

  19. Mortality in hyperglycemic crisis: a high association with infections and cerebrovascular disease.

    Science.gov (United States)

    Ekpebegh, C; Longo-Mbenza, B

    2013-06-01

    Aim of the present study was to determine syndrome specific mortality rates and the precipitating factors associated with deaths following admission for hyperglycemic crisis to a high care unit. Retrospective review of medical records for hyperglycemic crisis at Nelson Mandela Academic Hospital, Mthatha, Eastern Cape Province of South Africa from February 1 2010 to January 31 2011. All admissions were initially into the high care unit. The overall mortality rates (per admissions) was 13.9% (N.=15/108) with syndrome specific mortality rates (per admissions) of 11.9% (N.=8/67), 0% (N.=0/8) and 21.2% (N.=7/33) respectively for diabetic ketoacidosis (DKA), hyperglycemic hyperosmolar state (HHS) and hyperglycemia with dehydration (HD). The precipitating factors that were mainly associated with mortality were infections and cerebrovascular disease (CVD). The patients with CVD who died were all unconscious. There were no deaths where non-compliance with hypoglycaemic agents (14.8%, N.=16/108) was the precipitating factor. The overall mortality rates (per admissions) following high care unit admissions for hyperglycemic crisis was 13.9% with infections and CVD as the precipitating factors most associated with deaths.

  20. NMR images and in vivo T1 values associated with cerebrovascular diseases

    International Nuclear Information System (INIS)

    Furuse, Kazuhiro; Sao, Katsuyoshi; Inao, Motohide; Motegi, Yoshimasa; Kimura, Hiroaki; Kasai, Akira.

    1983-01-01

    NMR images and T 1 values, which were obtained by a Fonar QED 80-α system, were investigated in patients with cerebrovascular disease. In patients with intracerebral hemorrhage, hematoma was seen as high density area on steady state free precession images, and the extension of hematoma and its surrounding edema was also visualized frequently at the onset. T 1 values are generally high in the area of edema. T 1 values and their changes are thus considered useful in selecting the method of treatment. In patients with cerebral infarction, lesions were seen as high density areas. This was noted in serious cases, i.e., the areas corresponding to low density areas on CT were visualized as high density areas on NMR imaging. T 1 values were high especially in the center part of the infarct area, and tended to be prolonged with time. Prolongation of T 1 during the chronic stage seems to provide information concerning degeneration of tissues. Local T 1 values, as well as image findings, have a great significance for the clinical application of NMR technique. Sequential observations of T 1 values seem to make a large contribution to the pathological elucidation. (Namekawa, K.)

  1. Inherited myopathies and muscular dystrophies

    NARCIS (Netherlands)

    Cardamone, Michael; Darras, Basil T.; Ryan, Monique M.

    The inherited myopathies and muscular dystrophies are a diverse group of muscle diseases presenting with common complaints and physical signs: weakness, motor delay, and respiratory and bulbar dysfunction. The myopathies are caused by genetic defects in the contractile apparatus of muscle, and

  2. The Moroccan Genetic Disease Database (MGDD): a database for DNA variations related to inherited disorders and disease susceptibility.

    Science.gov (United States)

    Charoute, Hicham; Nahili, Halima; Abidi, Omar; Gabi, Khalid; Rouba, Hassan; Fakiri, Malika; Barakat, Abdelhamid

    2014-03-01

    National and ethnic mutation databases provide comprehensive information about genetic variations reported in a population or an ethnic group. In this paper, we present the Moroccan Genetic Disease Database (MGDD), a catalogue of genetic data related to diseases identified in the Moroccan population. We used the PubMed, Web of Science and Google Scholar databases to identify available articles published until April 2013. The Database is designed and implemented on a three-tier model using Mysql relational database and the PHP programming language. To date, the database contains 425 mutations and 208 polymorphisms found in 301 genes and 259 diseases. Most Mendelian diseases in the Moroccan population follow autosomal recessive mode of inheritance (74.17%) and affect endocrine, nutritional and metabolic physiology. The MGDD database provides reference information for researchers, clinicians and health professionals through a user-friendly Web interface. Its content should be useful to improve researches in human molecular genetics, disease diagnoses and design of association studies. MGDD can be publicly accessed at http://mgdd.pasteur.ma.

  3. CBF before and after extracranial-intracranial bypass surgery in patients with ischemic cerebrovascular disease studied with 133Xe-inhalation tomography

    DEFF Research Database (Denmark)

    Vorstrup, S; Lassen, N A; Henriksen, L

    1985-01-01

    Cerebral blood flow (CBF) was studied by 133Xenon inhalation tomography in 22 patients with symptoms of ischemic cerebrovascular disease before and after establishment of an extracranial-intracranial bypass shunt. Selection of patients for shunting was based on angiographically demonstrated...... arterial occlusions and on the finding of focal low flow areas corresponding to the clinical symptoms, that consisted mainly of minor stroke with good remission and with or without subsequent TIAs. It was required that the area of low flow should clearly exceed the CT lesion present in practically all...

  4. Deconstructing racial differences: the effects of quality of education and cerebrovascular risk factors.

    Science.gov (United States)

    Carvalho, Janessa O; Tommet, Doug; Crane, Paul K; Thomas, Michael L; Claxton, Amy; Habeck, Christian; Manly, Jennifer J; Romero, Heather R

    2015-07-01

    To evaluate the effects of vascular conditions and education quality on cognition over time in White and African American (AA) older adults. We investigated cross-sectional and longitudinal racial differences in executive functioning (EF) and memory composites among Whites (n = 461) and AAs (n = 118) enrolled in a cohort study. We examined whether cerebrovascular risk factors and Shipley Vocabulary scores (a proxy for education quality) accounted for racial differences. On average, AAs had lower quality of education and more cerebrovascular risk factors including hypertension, diabetes, and obesity. AAs had lower mean EF and memory at baseline, but there were no group differences in rates of decline. Cross-sectional racial differences in EF and memory persisted after controlling for vascular disease, but disappeared when controlling for Shipley Vocabulary. Quality of education appears to be more important than cerebrovascular risk factors in explaining cross-sectional differences in memory and EF performance between White and AA older adults. Further investigation is needed regarding the relative contribution of education quality and cerebrovascular risk factors to cognitive decline among ethnically/racially diverse older adults. © The Author 2014. Published by Oxford University Press on behalf of The Gerontological Society of America. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  5. Why do people buy dogs with potential welfare problems related to extreme conformation and inherited disease? A representative study of Danish owners of four small dog breeds

    OpenAIRE

    Sand?e, P.; Kondrup, S. V.; Bennett, P. C.; Forkman, B.; Meyer, I; Proschowsky, H. F.; Serpell, J. A.; Lund, T. B.

    2017-01-01

    number of dog breeds suffer from welfare problems due to extreme phenotypes and high levels of inherited diseases but the popularity of such breeds is not declining. Using a survey of owners of two popular breeds with extreme physical features (French Bulldog and Chihuahua), one with a high load of inherited diseases not directly related to conformation (Cavalier King Charles Spaniel), and one representing the same size range but without extreme conformation and with the same level of disease...

  6. Postmenopausal hormone therapy and subclinical cerebrovascular disease: the WHIMS-MRI Study.

    Science.gov (United States)

    Coker, L H; Hogan, P E; Bryan, N R; Kuller, L H; Margolis, K L; Bettermann, K; Wallace, R B; Lao, Z; Freeman, R; Stefanick, M L; Shumaker, S A

    2009-01-13

    The Women's Health Initiative Memory Study (WHIMS) hormone therapy (HT) trials reported that conjugated equine estrogen (CEE) with or without medroxyprogesterone acetate (MPA) increases risk for all-cause dementia and global cognitive decline. WHIMS MRI measured subclinical cerebrovascular disease as a possible mechanism to explain cognitive decline reported in WHIMS. We contacted 2,345 women at 14 WHIMS sites; scans were completed on 1,424 (61%) and 1,403 were accepted for analysis. The primary outcome measure was total ischemic lesion volume on brain MRI. Mean duration of on-trial HT or placebo was 4 (CEE+MPA) or 5.6 years (CEE-Alone) and scans were conducted an average of 3 (CEE+MPA) or 1.4 years (CEE-Alone) post-trial termination. Cross-sectional analysis of MRI lesions was conducted; general linear models were fitted to assess treatment group differences using analysis of covariance. A (two-tailed) critical value of alpha = 0.05 was used. In women evenly matched within trials at baseline, increased lesion volumes were significantly related to age, smoking, history of cardiovascular disease, hypertension, lower post-trial global cognition scores, and increased incident cases of on- or post-trial mild cognitive impairment or probable dementia. Mean ischemic lesion volumes were slightly larger for the CEE+MPA group vs placebo, except for the basal ganglia, but the differences were not significant. Women assigned to CEE-Alone had similar mean ischemic lesion volumes compared to placebo. Conjugated equine estrogen-based hormone therapy was not associated with a significant increase in ischemic brain lesion volume relative to placebo. This finding was consistent within each trial and in pooled analyses across trials.

  7. Reliability of the minimum basic dataset for diagnoses of cerebrovascular disease.

    Science.gov (United States)

    Hernández Medrano, I; Guillán, M; Masjuan, J; Alonso Cánovas, A; Gogorcena, M A

    2017-03-01

    The minimum basic dataset is the largest available hospital care administrative database that is used in clinical studies and hospital management in association with diagnosis-related groups (DRGs). In 2011, the quality of the national MBDS in hospital discharges was audited, in order to assess its reliability. This paper presents a sub-analysis of the results from that analysis which are referred to cerebrovascular disease (CVD). Using all discharge reports from the Spanish MBDS in 2009, a representative sample was obtained by stratified sampling and 11 209 records were evaluated. Outcome indicators were obtained to measure any differences observed between the national MBDS being evaluated and the hospital's original MBDS. Analysis of codes for CVD as a primary diagnosis was performed for ICD-9-CM diagnostic categories 430 through 438. We evaluated error rates in the selection and classification of main diagnoses, as well as in DRG assignment. There were 397 discharges of cases of CVD which included 21 different DRGs. Diagnostic coding showed a concordance rate of 81.87%; the selection error rate was 2.26% and the classification error rate was 15.87%. The error rate in the DRG was 16.12% and associated with the greatest impact on the mortality risk level. While the errors we observed must be taken into account, data suggest that the quality of the MBDS for CVD is sufficient to ensure delivery of valid information. The hospital discharge registry serves as a valuable tool for use in studies of this disease. Copyright © 2014 Sociedad Española de Neurología. Publicado por Elsevier España, S.L.U. All rights reserved.

  8. Cerebral blood flow in the occlusive cerebrovascular disease. 133Xe intravenous injection method

    Energy Technology Data Exchange (ETDEWEB)

    Kuda, Hitoshi; Mukawa, Jiro; Takara, Eiichi; Kinjo, Toshihiko; Ishikawa, Yasunari

    1988-04-01

    From December 1985 to May 1986, cerebral blood flow (CBF) was studied in 11 patients with occlusive cerebrovascular diseases confined by angiography. 133Xe (5mci) intravenous injection method designed by Kuikka and coworkers was applied for the measurement of regional-CBF and mean-CBF, and the calculation was based on the initial slope index. They were composed of 4 patients of the middle cerebral artery occlusion, 2 of the posterior cerebral artery occlusion, 1 of the internal carotid artery occlusion, 2 of the middle cerebral artery stenosis, 1 of the internal carotid artery stenosis, and 1 of the anterior cerebral artery stenosis. The period from the vascular attack to the initial CBF study was 2-29 days(mean 9.2 days). Recovery of mean-CBF was correlated with clinical and neurological improvement, and vice versa. There was no correlation between mean-CBF and neurological severity. CBF study alone is not sufficient to evaluate neuronal conditions in the occlusive disease. Additional other means, such as CT-scan, angiography and etc. should be requested for it. Intravenous 133Xe injection technique has an advantage over intracarotid injection method; less dangerous, especially in ages and capable of simultaneous measurement of bilateral hemisphere. Considering /sup c/ross talk/sup /regional-CBF of a low density area on X-ray CT-scan was equal to the one obtained by intracarotid injection method.

  9. Mapping hypercapnia-induced cerebrovascular reactivity using BOLD MRI

    Energy Technology Data Exchange (ETDEWEB)

    Zande, F.H.R. van der; Hofman, P.A.M.; Backes, W.H. [Maastricht University Hospital, Department of Radiology, P.O. Box 5800, Maastricht (Netherlands)

    2005-02-01

    Severe carotid artery stenosis or occlusion may put patients at risk for ischaemic stroke. Reduced cerebrovascular reserve capacity is a possible indicator of an imminent ischaemic event and can be determined by assessment of cerebrovascular reactivity to a vasodilative stimulus. However, little is known about the distribution of cerebrovascular reactivity in healthy individuals. In 13 healthy volunteers, dynamic T{sub 2}{sup *} MR images, acquired at alternating inspiratory pCO{sub 2} levels, showed a high percentage of signal change in grey matter, with a strong linear correlation with end-tidal pCO{sub 2}. The mean percentages of signal change for grey and white matter were 5.9{+-}1.2% and 1.9{+-}0.5%, respectively. The mean time lag between CO{sub 2} stimulus and haemodynamic response was 15{+-}4 s for grey matter and 180{+-}12 s for white matter. Parameter mapping revealed a hemispherically symmetrical and homogeneous distribution of cerebrovascular reactivity over the entire grey matter. These findings indicate that it may be feasible to detect exhausted cerebrovascular autoregulation in patients with a compromised cerebral vasculature. (orig.)

  10. Mapping hypercapnia-induced cerebrovascular reactivity using BOLD MRI

    International Nuclear Information System (INIS)

    Zande, F.H.R. van der; Hofman, P.A.M.; Backes, W.H.

    2005-01-01

    Severe carotid artery stenosis or occlusion may put patients at risk for ischaemic stroke. Reduced cerebrovascular reserve capacity is a possible indicator of an imminent ischaemic event and can be determined by assessment of cerebrovascular reactivity to a vasodilative stimulus. However, little is known about the distribution of cerebrovascular reactivity in healthy individuals. In 13 healthy volunteers, dynamic T 2 * MR images, acquired at alternating inspiratory pCO 2 levels, showed a high percentage of signal change in grey matter, with a strong linear correlation with end-tidal pCO 2 . The mean percentages of signal change for grey and white matter were 5.9±1.2% and 1.9±0.5%, respectively. The mean time lag between CO 2 stimulus and haemodynamic response was 15±4 s for grey matter and 180±12 s for white matter. Parameter mapping revealed a hemispherically symmetrical and homogeneous distribution of cerebrovascular reactivity over the entire grey matter. These findings indicate that it may be feasible to detect exhausted cerebrovascular autoregulation in patients with a compromised cerebral vasculature. (orig.)

  11. Osteoprotegerin CGA haplotype protection against cerebrovascular complications in anti-CCP negative patients with rheumatoid arthritis.

    Directory of Open Access Journals (Sweden)

    Fernanda Genre

    Full Text Available Rheumatoid arthritis is an inflammatory disease with high incidence of cardiovascular disease due to accelerated atherosclerosis. Osteoprotegerin (OPG has been associated with increased risk of atherosclerotic disease in the general population. Several polymorphisms in the OPG gene with functional effects on cardiovascular disease in non-rheumatic individuals have been described. Therefore, we aimed to analyze the effect of three of these functional OPG polymorphisms on the risk of cardiovascular disease in a large and well-characterized cohort of Spanish patients with rheumatoid arthritis.Three OPG gene variants (rs3134063, rs2073618 and rs3134069 were genotyped by TaqMan assays in 2027 Spanish patients with rheumatoid arthritis. Anti-cyclic citrullinated peptide (anti-CCP antibody testing was positive in 997 of 1714 tested. Also, 18.3% of the whole series had experienced cardiovascular events, including 5.4% with cerebrovascular accidents. The relationship between OPG variants and cardiovascular events was assessed using Cox regression.No association between OPG gene variants and cardiovascular disease was observed in the whole group of rheumatoid arthritis patients or in anti-CCP positive patients. Nevertheless, a protective effect of CGA haplotype on the risk of cardiovascular disease in general, and specifically in the risk of cerebrovascular complications after adjusting for sex, age at disease diagnosis and traditional cardiovascular risk factors was disclosed in anti-CCP negative patients (HR = 0.54; 95%CI: 0.31-0.95; p = 0.032 and HR = 0.17; 95%CI: 0.04-0.78; p = 0.022, respectively.Our results indicate a protective effect of the OPG CGA haplotype on cardiovascular risk, mainly due to a protective effect against cerebrovascular events in anti-CCP negative rheumatoid arthritis patients.

  12. Effects of high-intensity pulse irradiation with linear polarized near-infrared rays and stretching on muscle tone in patients with cerebrovascular disease: a randomized controlled trial.

    Science.gov (United States)

    Takeuchi, Nobuyuki; Takezako, Nobuhiro; Shimonishi, Yuko; Usuda, Shigeru

    2017-08-01

    [Purpose] The purpose of this study was to clarify the influence of high-intensity pulse irradiation with linear polarized near-infrared rays (HI-LPNR) and stretching on hypertonia in cerebrovascular disease patients. [Subjects and Methods] The subjects were 40 cerebrovascular disease patients with hypertonia of the ankle joint plantar flexor muscle. The subjects were randomly allocated to groups undergoing treatment with HI-LPNR irradiation (HI-LPNR group), stretching (stretching group), HI-LPNR irradiation followed by stretching (combination group), and control group (10 subjects each). In all groups, the passive range of motion of ankle dorsiflexion and passive resistive joint torque of ankle dorsiflexion were measured before and after the specified intervention. [Results] The changes in passive range of motion, significant increase in the stretching and combination groups compared with that in the control group. The changes in passive resistive joint torque, significant decrease in HI-LPNR, stretching, and combination groups compared with that in the control group. [Conclusion] HI-LPNR irradiation and stretching has effect of decrease muscle tone. However, combination of HI-LPNR irradiation and stretching has no multiplier effect.

  13. Study on Analysis and Pattern Recognition of the Manifestation of the Pulse Detection of Cerebrovascular Disease

    Energy Technology Data Exchange (ETDEWEB)

    Jing, J; Wang, Y C; Hong, W X; Zhang, W P [Department of Biomedical Engineering, University of Yanshan, Qinhuangdao, Hebei Province, 066004 (China)

    2006-10-15

    Cerebrovascular Disease (CVD) is also called stroke in Traditional Chinese Medicine (TCM). CVD is a kind of frequent diseases with high incidence, high death rate, high deformity rate and high relapse rate. The pathogenesis of CVD has relation to many factors. In modern medicine, we can make use of various instruments to check many biochemical parameters. However, at present, the early detection of CVD can mostly be done artificially by specialists. In TCM the salted expert can detect the state of a CVD patient by felling his (or her) pulse. It is significant to apply the modern information and engineering techniques to the early discovery of CVD. It is also a challenge to do this in fact. In this paper, the authors presented a detection method of CVD basing on analysis and pattern recognition of Manifestation of the Pulse of TCM using wavelet technology and Neural Networks. Pulse signals from normal health persons and CVD patients were studied comparatively. This research method is flexible to deal with other physiological signals.

  14. Linguistic ability in early life and the neuropathology of Alzheimer's disease and cerebrovascular disease. Findings from the Nun Study.

    Science.gov (United States)

    Snowdon, D A; Greiner, L H; Markesbery, W R

    2000-04-01

    Findings from the Nun Study indicate that low linguistic ability in early life has a strong association with dementia and premature death in late life. In the present study, we investigated the relationship of linguistic ability in early life to the neuropathology of Alzheimer's disease and cerebrovascular disease. The analyses were done on a subset of 74 participants in the Nun Study for whom we had handwritten autobiographies completed some time between the ages of 19 and 37 (mean = 23 years). An average of 62 years after writing the autobiographies, when the participants were 78 to 97 years old, they died and their brains were removed for our neuropathologic studies. Linguistic ability in early life was measured by the idea (proposition) density of the autobiographies, i.e., a standard measure of the content of ideas in text samples. Idea density scores from early life had strong inverse correlations with the severity of Alzheimer's disease pathology in the neocortex: Correlations between idea density scores and neurofibrillary tangle counts were -0.59 for the frontal lobe, -0.48 for the temporal lobe, and -0.49 for the parietal lobe (all p values < 0.0001). Idea density scores were unrelated to the severity of atherosclerosis of the major arteries at the base of the brain and to the presence of lacunar and large brain infarcts. Low linguistic ability in early life may reflect suboptimal neurological and cognitive development, which might increase susceptibility to the development of Alzheimer's disease pathology in late life.

  15. Inherited metabolic disorders in Thailand.

    Science.gov (United States)

    Wasant, Pornswan; Svasti, Jisnuson; Srisomsap, Chantragan; Liammongkolkul, Somporn

    2002-08-01

    The study of inborn errors of metabolism (IEM) in Thailand is in its infancy. The majority are clinically diagnosed since there are only a handful of clinicians and scientists with expertise in inherited metabolic disorders, shortage of well-equipped laboratory facilities and lack of governmental financial support. Genetic metabolic disorders are usually not considered a priority due to prevalence of infectious diseases and congenital infections. From a retrospective study at the Medical Genetics Unit, Department of Pediatrics, Siriraj Hospital; estimated pediatrics patients with suspected IEM were approximately 2-3 per cent of the total pediatric admissions of over 5,000 annually. After more than 10 years of research and accumulated clinical experiences, a genetic metabolic center is being established in collaboration with expert laboratories both in Bangkok (Chulabhorn Research Institute) and abroad (Japan and the United States). Numerous inherited metabolic disorders were identified--carbohydrate, amino acids, organic acids, mitochondrial fatty acid oxidation, peroxisomal, mucopolysaccharidoses etc. This report includes the establishment of genetic metabolic center in Thailand, research and pilot studies in newborn screening in Thailand and a multicenter study from 5 institutions (Children's National Center, King Chulalongkorn Memorial Hospital, Pramongkutklao Hospital, Ramathibodi and Siriraj Hospitals). Inherited metabolic disorders reported are fructose-1,6-bisphosphatase deficiency, phenylketonuria, homocystinuria, nonketotic hyperglycinemia, urea cycle defect (arginino succinate lyase deficiency, argininosuccinate synthetase deficiency), Menkes disease, propionic acidemia and mucopolysaccharidoses (Hurler, Hurler-Scheie).

  16. Cerebrovascular Hemodynamics in Women.

    Science.gov (United States)

    Duque, Cristina; Feske, Steven K; Sorond, Farzaneh A

    2017-12-01

    Sex and gender, as biological and social factors, significantly influence health outcomes. Among the biological factors, sex differences in vascular physiology may be one specific mechanism contributing to the observed differences in clinical presentation, response to treatment, and clinical outcomes in several vascular disorders. This review focuses on the cerebrovascular bed and summarizes the existing literature on sex differences in cerebrovascular hemodynamics to highlight the knowledge deficit that exists in this domain. The available evidence is used to generate mechanistically plausible and testable hypotheses to underscore the unmet need in understanding sex-specific mechanisms as targets for more effective therapeutic and preventive strategies. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  17. APOE AND ALZHEIMER DISEASE: A MAJOR GENE WITH SEMI-DOMINANT INHERITANCE

    Science.gov (United States)

    Genin, Emmanuelle; Hannequin, Didier; Wallon, David; Sleegers, Kristel; Hiltunen, Mikko; Combarros, Onofre; Bullido, Maria J; Engelborghs, Sebastiaan; De Deyn, Peter; Berr, Claudine; Pasquier, Florence; Dubois, Bruno; Tognoni, Gloria; Fiévet, Nathalie; Brouwers, Nathalie; Bettens, Karolien; Arosio, Beatrice; Coto, Eliecer; Zompo, Maria Del; Mateo, Ignacio; Epelbaum, Jacques; Frank-Garcia, Ana; Helisalmi, Seppo; Porcellini, Elisa; Pilotto, Alberto; Forti, Paola; Ferri, Raffaele; Scarpini, Elio; Siciliano, Gabriele; Solfrizzi, Vincenzo; Sorbi, Sandro; Spalletta, Gianfranco; Valdivieso, Fernando; Vepsäläinen, Saila; Alvarez, Victoria; Bosco, Paolo; Mancuso, Michelangelo; Panza, Francesco; Nacmias, Benedetta; Bossù, Paola; Hanon, Olivier; Piccardi, Paola; Annoni, Giorgio; Seripa, Davide; Galimberti, Daniela; Licastro, Federico; Soininen, Hilkka; Dartigues, Jean-François; Kamboh, M Ilyas; Van Broeckhoven, Christine; Lambert, Jean Charles; Amouyel, Philippe; Campion, Dominique

    2011-01-01

    Apolipoprotein E (APOE) dependent lifetime risks (LTRs) for Alzheimer Disease (AD) are currently not accurately known and odds ratios (ORs) alone are insufficient to assess these risks. We calculated AD lifetime risk in 7,351 cases and 10,132 controls from Caucasian ancestry using Rochester (USA) incidence data. At the age of 85 the LTR of AD without reference to APOE genotype was 11% in males and 14% in females. At the same age, this risk ranged from 51% for APOE44 male carriers to 60% for APOE44 female carriers, and from 23% for APOE34 male carriers to 30% for APOE34 female carriers, consistent with semi-dominant inheritance of a moderately penetrant gene. Using PAQUID (France) incidence data, estimates were globally similar except that at age 85 the LTRs reached 68% and 35 % for APOE 44 and APOE 34 female carriers, respectively. These risks are more similar to those of major genes in Mendelian diseases, such as BRCA1 in breast cancer, than those of low-risk common alleles identified by recent GWAS in complex diseases. In addition, stratification of our data by age- groups clearly demonstrates that APOE4 is a risk factor not only for late- onset but for early- onset AD as well. Together, these results urge a reappraisal of the impact of APOE in Alzheimer disease. PMID:21556001

  18. Dose-responses for mortality from cerebrovascular and heart diseases in atomic bomb survivors: 1950-2003

    Energy Technology Data Exchange (ETDEWEB)

    Schoellnberger, Helmut [Helmholtz Zentrum Muenchen, Department of Radiation Sciences, Institute of Radiation Protection, Neuherberg (Germany); Federal Office for Radiation Protection, Department of Radiation Protection and the Environment, Neuherberg (Germany); Eidemueller, Markus; Simonetto, Cristoforo; Kaiser, Jan Christian [Helmholtz Zentrum Muenchen, Department of Radiation Sciences, Institute of Radiation Protection, Neuherberg (Germany); Cullings, Harry M. [Radiation Effects Research Foundation, Department of Statistics, Hiroshima (Japan); Neff, Frauke [Staedtisches Klinikum Muenchen and Technical University of Munich, Institute of Pathology, Munich (Germany)

    2018-03-15

    The scientific community faces important discussions on the validity of the linear no-threshold (LNT) model for radiation-associated cardiovascular diseases at low and moderate doses. In the present study, mortalities from cerebrovascular diseases (CeVD) and heart diseases from the latest data on atomic bomb survivors were analyzed. The analysis was performed with several radio-biologically motivated linear and nonlinear dose-response models. For each detrimental health outcome one set of models was identified that all fitted the data about equally well. This set was used for multi-model inference (MMI), a statistical method of superposing different models to allow risk estimates to be based on several plausible dose-response models rather than just relying on a single model of choice. MMI provides a more accurate determination of the dose response and a more comprehensive characterization of uncertainties. It was found that for CeVD, the dose-response curve from MMI is located below the linear no-threshold model at low and medium doses (0-1.4 Gy). At higher doses MMI predicts a higher risk compared to the LNT model. A sublinear dose-response was also found for heart diseases (0-3 Gy). The analyses provide no conclusive answer to the question whether there is a radiation risk below 0.75 Gy for CeVD and 2.6 Gy for heart diseases. MMI suggests that the dose-response curves for CeVD and heart diseases in the Lifespan Study are sublinear at low and moderate doses. This has relevance for radiotherapy treatment planning and for international radiation protection practices in general. (orig.)

  19. Inborn Errors of Metabolism with Hypoglycemia Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis : Glycogen Storage Diseases and Inherited Disorders of Gluconeogenesis

    NARCIS (Netherlands)

    Weinstein, David A.; Steuerwald, Ulrike; De Souza, Carolina F. M.; Derks, Terry G. J.

    Although hyperinsulinism is the predominant inherited cause of hypoglycemia in the newborn period, inborn errors of metabolism are the primary etiologies after 1 month of age. Disorders of carbohydrate metabolism often present with hypoglycemia when fasting occurs. The presentation, diagnosis, and

  20. To inherit heritage or to inherit inheritance?

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    Vladimir Krivošejev

    2016-02-01

    Full Text Available The Republic of Serbia is one of the few, if not the only country in the world that, at ratification and translation of the term „baština“– heritage which appears in two significant and related international conventions of UNESCO, used different terms: „baština“– „heritage“, with regard to the Convention Concerning the Protection of the World Cultural and Natural Heritage, and „nasledje“ –inheritance in the Convention for the Safeguarding of the Intangible Cultural Heritage. One of the reasons for the subsequent rejection of the term heritage could lay in the opinion that it was the case of (end of 20th and beginning of the 21st century political bureaucratic introduction of an old, forgotten word, which also contains the notion of gender incorrectness based on pointing out the inheritance through the male line, which could be in conflict with international law. The views expressed in this paper suggest the unsustainability of these claims, as well as greater suitability of the term „baština“– heritage. Namely, the ratification of the Convention Concerning the Protection of the World Cultural and Natural Heritage was done as early as in 1974, and since then the term „baština“– heritage was used, its new introduction into use on the basis of recent daily political aspirations cannot be the case. At the same time inheritance through the male line is encountered with the use of the Latin word „patrimonium“, which is the basis for the terms used in the official translation of the UNESCO-listed conventions in French and Spanish: „patrimoine“ and „patrimonio“ (and other Roman languages so that the use of the term „baština“ –heritage cannot be a violation of international legal norms. Finally, bearing in mind the fact that, in general, use of languages is impossible to achieve complete gender purism, it is necessary to emphasize that in contrast to the term „nasledje“ – inheritance, the

  1. Imaging of Cerebrovascular Pathology in Animal Models of Alzheimer`s Disease

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    Jan eKlohs

    2014-03-01

    Full Text Available In Alzheimer’s disease (AD, vascular pathology may interact with neurodegeneration and thus aggravate cognitive decline. As the relationship between these two processes is poorly understood, research has been increasingly focused on understanding the link between cerebrovascular alterations and AD. This has at last been spurred by the engineering of transgenic animals, which display pathological features of AD and develop cerebral amyloid angiopathy to various degrees. Transgenic models are versatile for investigating the role of amyloid deposition and vascular dysfunction, and for evaluating novel therapeutic concepts. In addition, research has benefited from the development of novel imaging techniques, which are capable of characterizing vascular pathology in vivo. They provide vascular structural read-outs and have the ability to assess the functional consequences of vascular dysfunction as well as to visualize and monitor the molecular processes underlying these pathological alterations. This article focusses on recent in vivo small animal imaging studies addressing vascular aspects related to AD. With the technical advances of imaging modalities such as magnetic resonance, nuclear and microscopic imaging, molecular, functional and structural information related to vascular pathology can now be visualized in vivo in small rodents. Imaging vascular and parenchymal amyloid-β (Aβ deposition as well as Aβ transport pathways have been shown to be useful to characterize their dynamics and to elucidate their role in the development of cerebral amyloid angiopathy and AD. Structural and functional imaging read-outs have been employed to describe the deleterious affects of Aβ on vessel morphology, hemodynamics and vascular integrity. More recent imaging studies have also addressed how inflammatory processes partake in the pathogenesis of the disease. Moreover, imaging can be pivotal in the search for novel therapies targeting the vasculature.

  2. Observation of the relationship between regional cerebral blood flow and brain functional changes in the patients with ischemic cerebrovascular diseases

    International Nuclear Information System (INIS)

    Guan Yihui; Lin Xiangtong; Liu Yongchang

    1994-01-01

    The brain perfusion SPECT imaging and functional changes in 27 patients with ischemic cerebrovascular diseases and 20 controls were investigated. Correlated with the clinical findings and MRI study, we discovered the lowered perfusion of Broca and Wernicke area is closely related with the aphasia caused by left basal ganglia infarction. In hemianopia group, as the visual function improved after the light stimulation treatment, the blood perfusion increased in occipital lobe. The lowered perfusion in vestibular center can be observed in vertigo group. From these studies, we concluded that 99m Tc-HMPAO brain SPECT imaging can partly reflect the brain functions

  3. Vascular remodeling versus amyloid beta-induced oxidative stress in the cerebrovascular dysfunctions associated with Alzheimer's disease.

    Science.gov (United States)

    Tong, Xin-Kang; Nicolakakis, Nektaria; Kocharyan, Ara; Hamel, Edith

    2005-11-30

    The roles of oxidative stress and structural alterations in the cerebrovascular dysfunctions associated with Alzheimer's disease (AD) were investigated in transgenic mice overexpressing amyloid precusor protein (APP+) or transforming growth factor-beta1 (TGF+). Age-related impairments and their in vitro reversibility were evaluated, and underlying pathogenic mechanisms were assessed and compared with those seen in AD brains. Vasoconstrictions to 5-HT and endothelin-1 were preserved, except in the oldest (18-21 months of age) TGF+ mice. Despite unaltered relaxations to sodium nitroprusside, acetylcholine (ACh) and calcitonin gene-related peptide-mediated dilatations were impaired, and there was an age-related deficit in the basal availability of nitric oxide (NO) that progressed more gradually in TGF+ mice. The expression and progression of these deficits were unrelated to the onset or extent of thioflavin-S-positive vessels. Manganese superoxide dismutase (SOD2) was upregulated in pial vessels and around brain microvessels of APP+ mice, pointing to a role of superoxide in the dysfunctions elicited by amyloidosis. In contrast, vascular wall remodeling associated with decreased levels of endothelial NO synthase and cyclooxygenase-2 and increased contents of vascular endothelial growth factor and collagen-I and -IV characterized TGF+ mice. Exogenous SOD or catalase normalized ACh dilatations and NO availability in vessels from aged APP+ mice but had no effect in those of TGF+ mice. Increased perivascular oxidative stress was not evidenced in AD brains, but vascular wall alterations compared well with those seen in TGF+ mice. We conclude that brain vessel remodeling and associated alterations in levels of vasoactive signaling molecules are key contributors to AD cerebrovascular dysfunctions.

  4. Depression and dementia of cerebrovascular origin

    Directory of Open Access Journals (Sweden)

    Marmorato Paulo Germano

    2002-01-01

    Full Text Available We report the case of a patient who presented various psychiatric syndromes at the time of evaluation - partial complex epileptic seizures, personality change, and severe depression, which eventually progressed to dementia - resulting from multiple cerebral infarctions of probable neuro-angiopathic origin, of unknown etiology. Aspects related to depression following cerebrovascular accidents, as well as how cerebrovascular accidents can result in different disorders depending on the variables, are discussed based on the data from current literature.

  5. Raca e mortalidade cerebrovascular no Brasil

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    Paulo Andrade Lotufo

    2013-12-01

    Full Text Available Sendo desconhecidas as taxas de mortalidade cerebrovascular segundo raça no Brasil, foram coletadas informações de óbitos de 2010 do Sistema de Informação de Mortalidade do Ministério da Saúde. Foram calculadas as taxas de mortalidade cerebrovascular, ajustadas por idade (por 100 mil, com intervalo de confiança de 95%, por sexo e raça/cor de pele. A diferença entre brancos, pardos e negros foi significativa para homens, com taxas, respectivamente, de 44,4 (43,5;45,3, 48,2 (47,1;49,3 e 63,3 (60.6;66,6; e para mulheres, com taxa, respectivamente, de 29,0 (28,3;29,7, 33,7 (32,8;34,6 e 51,0 (48,6;53,4. Em conclusão, a mortalidade cerebrovascular no Brasil é maior entre negros.

  6. Associations of cerebrovascular metabolism genotypes with neuropsychiatric symptoms and age at onset of Alzheimer’s disease dementia

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    Fabricio F. de Oliveira

    Full Text Available Objective: To study associations of cerebrovascular metabolism genotypes and haplotypes with age at Alzheimer’s disease dementia (AD onset and with neuropsychiatric symptoms according to each dementia stage. Methods: Consecutive outpatients with late-onset AD were assessed for age at dementia onset and Neuropsychiatric Inventory scores according to Clinical Dementia Rating scores, apolipoprotein E gene (APOE haplotypes, angiotensin-converting enzyme gene (ACE variants rs1800764 and rs4291, low-density lipoprotein cholesterol receptor gene (LDLR variants rs11669576 and rs5930, cholesteryl ester transfer protein gene (CETP variants I422V and TaqIB, and liver X receptor beta gene (NR1H2 polymorphism rs2695121. Results: Considering 201 patients, only APOE-ɛ4 carriers had earlier dementia onset in multiple correlations, as well as less apathy, more delusions, and more aberrant motor behavior. Both ACE polymorphisms were associated with less intense frontally mediated behaviors. Regarding LDLR variants, carriers of the A allele of rs11669576 had less anxiety and more aberrant motor behavior, whereas carriers of the A allele of rs5930 had less delusions, less anxiety, more apathy, and more irritability. CETP variants that included G alleles of I422V and TaqIB were mostly associated with less intense frontally mediated behaviors, while severely impaired carriers of the T allele of rs2695121 had more anxiety and more aberrant motor behavior. Conclusion: Though only APOE haplotypes affected AD onset, cerebrovascular metabolism genotypes were associated with differences in several neuropsychiatric manifestations of AD.

  7. Hypoglycaemia related to inherited metabolic diseases in adults

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    Douillard Claire

    2012-05-01

    Full Text Available Abstract In non-diabetic adult patients, hypoglycaemia may be related to drugs, critical illness, cortisol or glucagon insufficiency, non-islet cell tumour, insulinoma, or it may be surreptitious. Nevertheless, some hypoglycaemic episodes remain unexplained, and inborn errors of metabolism (IEM should be considered, particularly in cases of multisystemic involvement. In children, IEM are considered a differential diagnosis in cases of hypoglycaemia. In adulthood, IEM-related hypoglycaemia can persist in a previously diagnosed childhood disease. Hypoglycaemia may sometimes be a presenting sign of the IEM. Short stature, hepatomegaly, hypogonadism, dysmorphia or muscular symptoms are signs suggestive of IEM-related hypoglycaemia. In both adults and children, hypoglycaemia can be clinically classified according to its timing. Postprandial hypoglycaemia can be an indicator of either endogenous hyperinsulinism linked to non-insulinoma pancreatogenic hypoglycaemia syndrome (NIPHS, unknown incidence in adults or very rarely, inherited fructose intolerance. Glucokinase-activating mutations (one family are the only genetic disorder responsible for NIPH in adults that has been clearly identified so far. Exercise-induced hyperinsulinism is linked to an activating mutation of the monocarboxylate transporter 1 (one family. Fasting hypoglycaemia may be caused by IEM that were already diagnosed in childhood and persist into adulthood: glycogen storage disease (GSD type I, III, 0, VI and IX; glucose transporter 2 deficiency; fatty acid oxidation; ketogenesis disorders; and gluconeogenesis disorders. Fasting hypoglycaemia in adulthood can also be a rare presenting sign of an IEM, especially in GSD type III, fatty acid oxidation [medium-chain acyl-CoA dehydrogenase (MCAD, ketogenesis disorders (3-hydroxy-3-methyl-glutaryl-CoA (HMG-CoA lyase deficiency, and gluconeogenesis disorders (fructose-1,6-biphosphatase deficiency].

  8. Effect of heterogeneity and assumed mode of inheritance on lod scores.

    Science.gov (United States)

    Durner, M; Greenberg, D A

    1992-02-01

    Heterogeneity is a major factor in many common, complex diseases and can confound linkage analysis. Using computer-simulated heterogeneous data we tested what effect unlinked families have on a linkage analysis when heterogeneity is not taken into account. We created 60 data sets of 40 nuclear families each with different proportions of linked and unlinked families and with different modes of inheritance. The ascertainment probability was 0.05, the disease had a penetrance of 0.6, and the recombination fraction for the linked families was zero. For the analysis we used a variety of assumed modes of inheritance and penetrances. Under these conditions we looked at the effect of the unlinked families on the lod score, the evaluation of the mode of inheritance, and the estimate of penetrance and of the recombination fraction in the linked families. 1. When the analysis was done under the correct mode of inheritance for the linked families, we found that the mode of inheritance of the unlinked families had minimal influence on the highest maximum lod score (MMLS) (i.e., we maximized the maximum lod score with respect to penetrance). Adding sporadic families decreased the MMLS less than adding recessive or dominant unlinked families. 2. The mixtures of dominant linked families with unlinked families always led to a higher MMLS when analyzed under the correct (dominant) mode of inheritance than when analyzed under the incorrect mode of inheritance. In the mixtures with recessive linked families, assuming the correct mode of inheritance generally led to a higher MMLS, but we observed broad variation.(ABSTRACT TRUNCATED AT 250 WORDS)

  9. The immigration delay disease: adermatoglyphia-inherited absence of epidermal ridges.

    Science.gov (United States)

    Burger, Bettina; Fuchs, Dana; Sprecher, Eli; Itin, Peter

    2011-05-01

    In the digital age, personal identification by fingerprints (epidermal ridges) has become more frequent and is often required for biometric passports. The more fingerprints are analyzed, the more variants in their formation are documented. Individuals completely missing fingerprints as an isolated finding are extremely rare. Only 4 kindreds have been described to date, with additional clinical features in most cases. We describe a female patient with missing epidermal ridges on the fingers, palms, toes, and soles as an isolated feature. Absent fingerprints, or adermatoglyphia, were inherited over 4 generations of her family in an autosomal dominant fashion. We present the clinical features of the index patient, and compare the case with previous reports in the literature. Because of problems in personal identification, this embryologic malformation caused the patient significant difficulties when traveling to other countries, which is why we name it the immigration delay disease. Copyright © 2009 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.

  10. Neural/Bayes network predictor for inheritable cardiac disease pathogenicity and phenotype.

    Science.gov (United States)

    Burghardt, Thomas P; Ajtai, Katalin

    2018-04-11

    The cardiac muscle sarcomere contains multiple proteins contributing to contraction energy transduction and its regulation during a heartbeat. Inheritable heart disease mutants affect most of them but none more frequently than the ventricular myosin motor and cardiac myosin binding protein c (mybpc3). These co-localizing proteins have mybpc3 playing a regulatory role to the energy transducing motor. Residue substitution and functional domain assignment of each mutation in the protein sequence decides, under the direction of a sensible disease model, phenotype and pathogenicity. The unknown model mechanism is decided here using a method combing neural and Bayes networks. Missense single nucleotide polymorphisms (SNPs) are clues for the disease mechanism summarized in an extensive database collecting mutant sequence location and residue substitution as independent variables that imply the dependent disease phenotype and pathogenicity characteristics in 4 dimensional data points (4ddps). The SNP database contains entries with the majority having one or both dependent data entries unfulfilled. A neural network relating causes (mutant residue location and substitution) and effects (phenotype and pathogenicity) is trained, validated, and optimized using fulfilled 4ddps. It then predicts unfulfilled 4ddps providing the implicit disease model. A discrete Bayes network interprets fulfilled and predicted 4ddps with conditional probabilities for phenotype and pathogenicity given mutation location and residue substitution thus relating the neural network implicit model to explicit features of the motor and mybpc3 sequence and structural domains. Neural/Bayes network forecasting automates disease mechanism modeling by leveraging the world wide human missense SNP database that is in place and expanding. Copyright © 2018 The Authors. Published by Elsevier Ltd.. All rights reserved.

  11. Characteristics of cerebrovascular accidents at time of diagnosis in a series of 98 patients with giant cell arteritis.

    Science.gov (United States)

    Zenone, Thierry; Puget, Marie

    2013-12-01

    The objective of this study was to determine the characteristics of cerebrovascular accidents at time of diagnosis in patients with giant cell arteritis. Retrospective data were collected from 98 patients at a single hospital with giant cell arteritis (according to the American College of Rheumatology classification criteria) diagnosed between October 1999 and January 2012. Cerebrovascular accident was found at initial presentation in 6 patients (6.1 %, 95 % CIs 2.3-12.9). Most of them had other symptoms of giant cell arteritis when the disease began. Signs reflecting the involvement of vertebro-basilar territory were present in 3 cases. No other case of cerebrovascular accident was described during the follow-up of patient; particularly no case of cerebrovascular accident occurred once corticosteroid therapy for the treatment of giant cell arteritis had been initiated. No differences in the epidemiologic, clinical and laboratory features at the time of diagnosis between patients who had cerebrovascular accidents and the rest of the giant cell arteritis patients were observed. Prognosis was good in our survey. However, there was no case of bilateral vertebral artery occlusion, a condition associated with poor prognosis. The present study confirms that cerebrovascular accidents may be the initial manifestation of giant cell arteritis, an argument in favor of a direct effect of the vasculitis in the development of cerebrovascular accidents rather than a complication of the corticosteroid therapy. The diagnosis of giant cell arteritis should always be considered in an elderly patient with stroke and an unexplained elevation of inflammatory biomarkers.

  12. Radiological study of cerebro-vascular accidents

    International Nuclear Information System (INIS)

    Misri, H.T.; Kabawe, Bassam

    1991-01-01

    The role of computerized tomography scanner in studying the cerebro-vascular accidents has been discussed. One hundred fifty patients with cerebro-vascular accidents were studied at Aleppo University Hospital between 1989-1990. Clinical history and physical examination were recorded, as well as, computerized tomography scanning in all cases without using the contrast media mostly. Relationship between the density of the lesion (inforctionor hemorrhage) and the time has been found. This relationship can help in forensic medicine. (author). 29 refs., 5 tabs., 2 figs

  13. ACUTE CEREBROVASCULAR ACCIDENTS IN PREGNANCY, LABOR AND POSTPARTUM

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    R. R. Arustamyan

    2016-01-01

    Full Text Available Background: Acute cerebrovascular accidents are rare and serious complication of pregnancy, labor and puerperium, leading to an increase in maternal and perinatal morbidity and mortality. More than 12% of maternal mortality is related to stroke. Aim: To assess the impact of pregnancy on the incidence of stroke, as well as the impact of cerebrovascular disorders on pregnancy, labor and puerperium. Materials and methods: We retrospectively and prospectively analyzed the course of pregnancy, labor and puerperium in 136 female patients with strokes of various etiologies. The diagnosis of stroke and cerebrovascular disorders was verified with magnetic resonance imaging, angiography, conventional and multiaxial computerized tomography, ophthalmoscopy, electroencephalography, electrocardiography and echocardiography (trans-thoracic and trans-esophageal, 24-hour blood pressure monitoring and electrocardiogram monitoring, ultrasound assessment of extra and intracranial vasculature with duplex scanning, cerebral angiography and laboratory assessments. Results: The analysis of 92 strokes that occurred during pregnancy, labor and postpartum showed that 38% of the cases (n=35 were caused by various cerebrovascular abnormalities. In 18.5% of the cases (n=17, acute cerebrovascular accidents occurred in patients with preeclampsia/eclampsia. Most often (84.8%, or 78/97 of cases strokes or other cerebrovascular accidents developed in II and III trimesters. The most severe cases were patients with intracranial hemorrhages (n=31. In this group, there were 5  deaths of mothers, 1  antenatal and 1  neonatal fetal deaths. In 90% of these cases (28/31, intracranial hemorrhage in pregnancy was related to manifestation of intracerebral vascular abnormality (arteriovenous malformations, arterial aneurysms, cavernomas. We observed a 4-fold rate of arteriovenous malformation ruptures during pregnancy (21 cases vs. 5. The rates of arterial aneurysm and cavernoma ruptures

  14. Novel mutation in TSPAN12 leads to autosomal recessive inheritance of congenital vitreoretinal disease with intra-familial phenotypic variability.

    Science.gov (United States)

    Gal, Moran; Levanon, Erez Y; Hujeirat, Yasir; Khayat, Morad; Pe'er, Jacob; Shalev, Stavit

    2014-12-01

    Developmental malformations of the vitreoretinal vasculature are a heterogeneous group of conditions with various modes of inheritance, and include familial exudative vitreoretinopathy (FEVR), persistent fetal vasculature (PFV), and Norrie disease. We investigated a large consanguineous kindred with multiple affected individuals exhibiting variable phenotypes of abnormal vitreoretinal vasculature, consistent with the three above-mentioned conditions and compatible with autosomal recessive inheritance. Exome sequencing identified a novel c.542G > T (p.C181F) apparently mutation in the TSPAN12 gene that segregated with the ocular disease in the family. The TSPAN12 gene was previously reported to cause dominant and recessive FEVR, but has not yet been associated with other vitreoretinal manifestations. The intra-familial clinical variability caused by a single mutation in the TSPAN12 gene underscores the complicated phenotype-genotype correlation of mutations in this gene, and suggests that there are additional genetic and environmental factors involved in the complex process of ocular vascularization during embryonic development. Our study supports considering PFV, FEVR, and Norrie disease a spectrum of disorders, with clinical and genetic overlap, caused by mutations in distinct genes acting in the Norrin/β-catenin signaling pathway. © 2014 Wiley Periodicals, Inc.

  15. Studies of computed tomography as a contribution to differential diagnosis between dementia due to cerebrovascular disease (multi-infract type) and due to primarily degenerative cerebral atrophy (Alzheimers type)

    International Nuclear Information System (INIS)

    Kohlmeyer, K.

    1982-01-01

    Studies of computed tomography were performed in 367 patients diagnosed as dementia clinically. The mean age was 70.1 years. By the clinicians 240 were classified as senile dementia of Alzheimer's type, 79 as multiinfarct dementia, and 48 were not determined definitely. In 3%, the CT studies did detect treatable causes like tumors, subdural hematomas and communicating hydrocephalus. In about 57% was found by CT a diffuse brain atrophy without focal tissue changes as to expect if occurring a cerebrovascular disease. In 25% there were focal changes of the brain tissue in CT to define as residuals of infarctions in addition to the signs of cerebral atrophy. The results of the CT studies were normal in 15% despite of the evidence of dementia clinically. The analysis of the material did show that a cerebrovascular disease as a cause of dementia is suspected clinically in much more cases than CT studies are able to prove focal pathological changes of the brain tissue due to disorders of cerebral blood flow really. (orig.) [de

  16. Genetically elevated C-reactive protein and ischemic vascular disease

    DEFF Research Database (Denmark)

    Zacho, J.; Tybjaerg-Hansen, A.; Jensen, J.S.

    2008-01-01

    Background: Elevated levels of C-reactive protein (CRP) are associated with increased risks of ischemic heart disease and ischemic cerebrovascular disease. We tested whether this is a causal association. Methods: We studied 10,276 persons from a general population cohort, including 1786 in whom...... ischemic heart disease developed and 741 in whom ischemic cerebrovascular disease developed. We examined another 31,992 persons from a cross-sectional general population study, of whom 2521 had ischemic heart disease and 1483 had ischemic cerebrovascular disease. Finally, we compared 2238 patients...... with ischemic heart disease with 4474 control subjects and 612 patients with ischemic cerebrovascular disease with 1224 control subjects. We measured levels of high-sensitivity CRP and conducted genotyping for four CRP polymorphisms and two apolipoprotein E polymorphisms. Results: The risk of ischemic heart...

  17. Semiquantitative regional cerebral blood flow evaluation by the sup 123 I-IMP SPECT before and during medication of bifemelane hydrochloride in patients with cerebrovascular diseases

    Energy Technology Data Exchange (ETDEWEB)

    Tsuda, Yoshiyasu; Ayada, Yoshihide; Kitadai, Masaya; Tanabe, Masatada; Matsuo, Hirohide (Kagawa Medical School, Miki (Japan))

    1992-04-01

    Regional cerebral blood flow (rCBF) by {sup 123}I-IMP SPECT was measured before and 2.8, 10.3 months during medication of bifemelane hydrochloride in 10 patients with cerebrovascular diseases and compared with 5 control patients without medication. Semiquantitative rCBF indices of asymmetry and redistribution (AI, RI) were calculated from mean regional counts/pixel of each region of interest (ROI) in the early and delayed images of IMP SPECT. Before medication, no significant differences of RI and AI were observed between patients with and without medication of bifemelane hydrochloride. Significantly higher RI was observed in the second measurement 2.8 months in mean during medication of bifemelane hydrochloride, while AI was less in patients medicated with bifemelane hydrochloride. In the third measurement 10.3 months in mean during medication of bifemelane hydrochloride, RI was kept to be higher than that in the second measurement of the control patients without medication. The ratio of the number of ROI, where the redistribution being observed, was significantly higher in patients medicated than in control patients. From the results, medication of bifemelane hydrochloride might keep the redistribution phenomenon, which may indicate reversible cerebral ischemia, more persistently and intensively in patients with cerebrovascular diseases. (author).

  18. Osteosarcoma inheritance in two families of Scottish deerhounds.

    Science.gov (United States)

    Dillberger, John E; McAtee, Sara Ann

    2017-01-01

    Osteosarcoma is the most common neoplastic disease in Scottish Deerhounds. For Deerhounds, a 2007 population-based study concluded that a single dominant genetic factor largely governed disease risk. For Greyhounds, Rottweilers, and Irish Wolfhounds, a 2013 genome-wide association study found multiple genetic markers in each breed, with each marker only weakly associated with the disease. We obtained from two breeders the pedigrees, age (if alive) or age at death, and osteosarcoma status for two families of Scottish Deerhounds, designated Cohorts K and T. A dog was considered unaffected only if it was osteosarcoma-free and at least 8.5 years old. We analyzed the data in two ways, by assuming either a single recessive genetic factor or a single dominant genetic factor with high penetrance. Cohort K contained 54 evaluable dogs representing 12 litters. Cohort T contained 56 evaluable dogs representing eight litters. Osteosarcoma seemed clearly heritable in both cohorts; however, having a parent with osteosarcoma raised a pup's risk of developing osteosarcoma to 38% for Cohort K but 78% for Cohort T, suggesting the possibility of different genetic risk factors in each cohort. In Cohort K, osteosarcoma inheritance fit well with a single, recessive, autosomal risk factor, although we could not rule out the possibility of a single dominant risk factor with incomplete penetrance. In Cohort T, inheritance could be explained well by a single, dominant, autosomal risk factor but was inconsistent with recessive expression. Inheritance of osteosarcoma in two Scottish Deerhound families could be explained well by a single genetic risk factor residing on an autosome, consistent with a 2007 report. In one family, inheritance was consistent with dominant expression, as previously reported. In the other family, inheritance fit better with recessive expression, although the possibility of a dominant genetic factor influenced by one or more other genetic factors could not be ruled

  19. Risk of cerebrovascular accidents and ischemic heart disease in patients with inflammatory bowel disease: a systematic review and meta-analysis.

    Science.gov (United States)

    Singh, Siddharth; Singh, Harkirat; Loftus, Edward V; Pardi, Darrell S

    2014-03-01

    Inflammatory bowel disease (IBD) is associated with an increased risk of venous thromboembolic disease. However, it is unclear whether IBD modifies the risk of arterial thromboembolic events, including cerebrovascular accidents (CVA) and ischemic heart disease (IHD). We performed a systematic review and meta-analysis of cohort and case-control studies that reported incident cases of CVA and/or IHD in patients with IBD and a non-IBD control population (or compared with a standardized population). We calculated pooled odds ratios (ORs) with 95% confidence intervals (CIs). We analyzed data from 9 studies (2424 CVA events in 5 studies, 6478 IHD events in 6 studies). IBD was associated with a modest increase in the risk of CVA (5 studies; OR, 1.18; 95% CI, 1.09-1.27), especially among women (4 studies; OR, 1.28; 95% CI, 1.17-1.41) compared with men (OR, 1.11; 95% CI, 0.98-1.25), and in young patients (<40-50 y old). The increase in risk was observed for patients with Crohn's disease and in those with ulcerative colitis. IBD also was associated with a 19% increase in the risk of IHD (6 studies; OR, 1.19; 95% CI, 1.08-1.31), both in patients with Crohn's disease and ulcerative colitis. This risk increase was seen primarily in women (4 studies; OR, 1.26; 95% CI, 1.18-1.35) compared with men (OR, 1.05; 95% CI, 0.92-1.21), in young and old patients. IBD was not associated with an increased risk of peripheral arterial thromboembolic events. Considerable heterogeneity was observed in the overall analysis. IBD is associated with a modest increase in the risk of cardiovascular morbidity (from CVA and IHD)-particularly in women. These patients should be counseled routinely on aggressive risk factor modification. Copyright © 2014 AGA Institute. Published by Elsevier Inc. All rights reserved.

  20. Effects of statin therapy on cerebrovascular and renal outcomes in patients with predialysis advanced chronic kidney disease and dyslipidemia.

    Science.gov (United States)

    Chung, Chang-Min; Lin, Ming-Shyan; Hsu, Jen-Te; Hsiao, Ju-Feng; Chang, Shih-Tai; Pan, Kuo-Li; Lin, Chun-Liang; Lin, Yu-Sheng

    Treatment with statin may be beneficial for patients with chronic kidney disease (CKD). However, the debate over the clinical importance of statin in patients with predialysis advanced CKD remains unresolved. The objective of the article was to evaluate the effect of statin on mortality, cerebrovascular, and renal outcomes in patients with predialysis advanced CKD and dyslipidemia. Data on predialysis advanced CKD patients were retrieved from the National Health Insurance Research Database based on the guidelines for prescribing regular erythropoietin-stimulating agent in CKD patients. Patients with dyslipidemia were further selected and divided into 2 groups by their statin use after the prescribed erythropoietin-stimulating agent. All-cause mortality and cerebrovascular and renal outcomes were analyzed after propensity score matching. There were 2016 and 14,412 patients in the statin and nonstatin groups. Their average follow-up periods were 3.7 and 3.0 years, respectively. After 1:2 propensity score matching, the annual all-cause mortality rate was higher in the nonstatin than in the statin group (143.99 vs 109.50 per 1000 person-years; P statin group (1269.45 vs 1095.00 per 1000 person-years; P = .002). Adverse events were not significant between the 2 groups. Statins may reduce the all-cause mortality and reduced the risk of dialysis in patients with predialysis advanced CKD and dyslipidemia. However, statins have no impact on ischemic-hemorrhage stroke. Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  1. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

    Directory of Open Access Journals (Sweden)

    Maleeha Maria

    Full Text Available Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD.We genetically screened 13 families from a cohort of 81 Pakistani IRD families diagnosed with Leber congenital amaurosis (LCA, retinitis pigmentosa (RP, congenital stationary night blindness (CSNB, or cone dystrophy (CD. We employed genome-wide single nucleotide polymorphism (SNP array analysis to identify homozygous regions shared by affected individuals and performed Sanger sequencing of IRD-associated genes located in the sizeable homozygous regions. In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families.Homozygosity mapping and Sanger sequencing of IRD-associated genes revealed the underlying mutations in 10 families. TSS revealed causative variants in three families. In these 13 families four novel mutations were identified in CNGA1, CNGB1, GUCY2D, and RPGRIP1.Homozygosity mapping and TSS revealed the underlying genetic cause in 13 IRD families, which is useful for genetic counseling as well as therapeutic interventions that are likely to become available in the near future.

  2. Doença cerebrovascular na infância: I. Manifestações epilépticas Cerebrovascular disease in children: I. Epileptic manifestations

    Directory of Open Access Journals (Sweden)

    M. AUGUSTA MONTENEGRO

    1999-09-01

    Full Text Available As crises epilépticas podem constituir complicação de doença cerebrovascular (DCV, e a sua prevalência, apresentação clínica, fatores de risco e evolução em crianças tem sido estudadas por poucos autores. Neste estudo, 39 crianças com diagnóstico de DCV foram avaliadas quanto à ocorrência de manifestações epilépticas. Vinte e quatro (61,5% apresentaram crises durante algum momento da doença (22 na fase aguda e 2 na tardia; 13 (54,2% apresentaram crises generalizadas, 7 (29,2% parciais, e 4 (16,6% secundariamente generalizadas. A prevalência de manifestação epiléptica em lactentes foi significativamente maior (p=0,0362 do que nas outras faixas etárias. A localização cortical da DCV mostrou determinar de modo estatisticamente significante (p=0,0101 a ocorrência de crises. Não houve relação significativa entre o tipo de insulto vascular (isquêmico ou hemorrágico e a ocorrência de crises. Quatorze pacientes evoluíram sem crise após a fase aguda; os 2 pacientes previamente epilépticos tiveram suas crises controladas com droga anti-epiléptica (DAE; 3 evoluíram com epilepsia (1 controlado com DAE e 2 de difícil controle; 3 continuaram em acompanhamento ambulatorial e não houve tempo hábil para definir se o quadro evoluirá para epilepsia e em 2 ocorreu óbito na fase aguda.Seizures may occur as a complication of cerebrovascular disease (CVD and its prevalence, clinical presentation, risk factors and evolution have been reported by few authors. We evaluated 39 children with CVD and analysed the association with seizures. Seizures occurred in 24 (61.5% patients and were classified as partial (29.2%, generalized (54.2% and secondarily generalized (16.6%. Infants had a significantly higher prevalence of seizures (p=0.0362 than children at other ages. Cortical localization was associated with a significantly higher prevalence of seizures (p=0.0101. There were no differences between ischemic and hemorrhagic strokes

  3. A comparative study of computerized tomograms and neuropathological findings in cerebrovascular diseases

    International Nuclear Information System (INIS)

    Tohgi, Hideo; Mochizuki, Hiroshi; Yamanouchi, Hiroshi; Iio, Masahiro; Yamada, Hideo

    1979-01-01

    The reliability of computed tomography (CT) in the diagnosis of cerebrovascular diseases was studied by comparing CT images and neuropathological findings in 38 autopsied cases. Our special concern was directed toward several factors which caused false positive and false negative results in CT: the size and location of lesions, and the interval between the onset of the disease and the time of CT studies. Infarctions smaller than 5 mm should be interpreted as such with great care, because only 32.1% of them could be detected in CT, and 81.0% of small low density areas supposed to be small infarctions in CT films proved to be false positive in postmortem examination. 41.9% of middle-sized infarctions were detected in CT and 40.9% of middle-sized low density areas were false positive. Most of false positive low density areas appeared on the surface of the cerebrum where deep sulci join, or in the white matter anterior to the anterior horn or posterior to the posterior horn of the lateral ventricles. The possibility of false positive findings became far less, when the number of slices showing low density areas increased. All of the large infarctions were detected in CT. However, immediately after stroke they did not stand out as low density areas. In such cases, the decrease of cerebral sulci due to brain edema and signs of compression in the ventricular system could be the clues to make the diagnosis of large infarctions. The diagnosis of hemorrhagic infarctions was often difficult. Cerebral bleeding could be diagnosed easily by CT in its early period. However, old hematomas which rapidly resolved and became shrunken, could hardly be identified in CT. (author)

  4. Genes and inheritance.

    Science.gov (United States)

    Middelton, L A; Peters, K F

    2001-10-01

    The information gained from the Human Genome Project and related genetic research will undoubtedly create significant changes in healthcare practice. It is becoming increasingly clear that nurses in all areas of clinical practice will require a fundamental understanding of basic genetics. This article provides the oncology nurse with an overview of basic genetic concepts, including inheritance patterns of single gene conditions, pedigree construction, chromosome aberrations, and the multifactorial basis underlying the common diseases of adulthood. Normal gene structure and function are introduced and the biochemistry of genetic errors is described.

  5. Relationship between the severity of obstructive sleep apnea syndrome and asymptomatic cerebrovascular disease

    International Nuclear Information System (INIS)

    Nishibayashi, Momoka

    2008-01-01

    In this study, examined were prevalence of asymptomatic cerebrovascular disease (ACD) in patients with obstructive sleep apnea syndrome (OSAS) and relationship between its severity and ACD prevalence. Subjects were 192 cases (M 170/F 20, av. age 50.6 y) with chief complaint of snore, sleep apnea (apnea-hypopnea index/AHI 0-118.4/h), midday drowsiness and so on without CD history, who underwent the overnight polysomnographic recording, vascular risk assessment like life habits, blood pressure and impaired GT, and brain MRI. The last item was conducted with Siemence 1.5T machine to get T1-, T2-weighted and FLAIR images to evaluate asymptomatic lacunar infarction (ALI) and periventricular hyperintensity (PVH). Light (AHI<15/h), moderate (15≤AHI<30) and severe (AHI≥30) OSASs were found in 44, 35 and 61 cases, respectively. ALIs were found in 7 light, 17 moderate and 61 severe cases and PVH, in 9, 19 and 61 cases, respectively. Thus it was revealed that patients with moderate to severe OSAS had complication of ACD in a higher rate than those with light OSAS and that prevalence of ACD was higher in OSAS patients with AHI 15/h or more. (R.T.)

  6. Reliability, Validity, and Optimal Cutoff Score of the Montreal Cognitive Assessment (Changsha Version) in Ischemic Cerebrovascular Disease Patients of Hunan Province, China

    Science.gov (United States)

    Tu, Qiu-yun; Jin, Hui; Ding, Bin-rong; Yang, Xia; Lei, Zeng-hui; Bai, Song; Zhang, Ying-dong; Tang, Xiang-qi

    2013-01-01

    Background/Aims The goal of this study was to examine the reliability and validity of the Changsha version of the Montreal Cognitive Assessment (MoCA-CS) in ischemic cerebrovascular disease patients of Hunan Province, China, and to explore the optimal cutoff score for detecting vascular cognitive impairment-no dementia (VCI-ND) and vascular dementia (VD). Methods Three hundred and thirty-eight ischemic cerebrovascular disease patients (131 with normal cognition, 111 with VCI-ND, and 96 with VD) and 132 healthy controls were recruited. All participants accepted examination by the MoCA-CS, Mini-Mental State Examination (MMSE), and other related scales. A detailed neuropsychological battery was used for making a final cognitive diagnosis. SPSS 16.0 statistical software was used for reliability, validity examination, and optimal cutoff score detection. Results Cronbach's α of the MoCA-CS was 0.884, and test-retest and interrater reliability of the MoCA-CS were 0.966 and 0.926, respectively. MoCA-CS scores were highly correlated with MMSE scores (r = 0.867) and simplified intelligence quotients (r = 0.822). The results indicate that 1 point should be added for subjects with less than 6 years of education, and that the optimal cutoff score for detecting VCI-ND is 26/27 (sensitivity 96.1%, specificity 75.6%), whereas the optimal cutoff score for detecting VD is 16/17 (sensitivity 92.7%, specificity 96.3%). Conclusion The MoCA-CS has good reliability and validity, and is a useful cognitive screening instrument for detecting VCI in the Chinese population. PMID:23637698

  7. Reliability, Validity, and Optimal Cutoff Score of the Montreal Cognitive Assessment (Changsha Version in Ischemic Cerebrovascular Disease Patients of Hunan Province, China

    Directory of Open Access Journals (Sweden)

    Qiu-yun Tu

    2013-02-01

    Full Text Available Background/Aims: The goal of this study was to examine the reliability and validity of the Changsha version of the Montreal Cognitive Assessment (MoCA-CS in ischemic cerebrovascular disease patients of Hunan Province, China, and to explore the optimal cutoff score for detecting vascular cognitive impairment-no dementia (VCI-ND and vascular dementia (VD. Methods: Three hundred and thirty-eight ischemic cerebrovascular disease patients (131 with normal cognition, 111 with VCI-ND, and 96 with VD and 132 healthy controls were recruited. All participants accepted examination by the MoCA-CS, Mini-Mental State Examination (MMSE, and other related scales. A detailed neuropsychological battery was used for making a final cognitive diagnosis. SPSS 16.0 statistical software was used for reliability, validity examination, and optimal cutoff score detection. Results: Cronbach’s α of the MoCA-CS was 0.884, and test-retest and interrater reliability of the MoCA-CS were 0.966 and 0.926, respectively. MoCA-CS scores were highly correlated with MMSE scores (r = 0.867 and simplified intelligence quotients (r = 0.822. The results indicate that 1 point should be added for subjects with less than 6 years of education, and that the optimal cutoff score for detecting VCI-ND is 26/27 (sensitivity 96.1%, specificity 75.6%, whereas the optimal cutoff score for detecting VD is 16/17 (sensitivity 92.7%, specificity 96.3%. Conclusion: The MoCA-CS has good reliability and validity, and is a useful cognitive screening instrument for detecting VCI in the Chinese population.

  8. MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.

    Science.gov (United States)

    Gosalia, Nehal; Economides, Aris N; Dewey, Frederick E; Balasubramanian, Suganthi

    2017-10-13

    Nonsynonymous single nucleotide variants (nsSNVs) constitute about 50% of known disease-causing mutations and understanding their functional impact is an area of active research. Existing algorithms predict pathogenicity of nsSNVs; however, they are unable to differentiate heterozygous, dominant disease-causing variants from heterozygous carrier variants that lead to disease only in the homozygous state. Here, we present MAPPIN (Method for Annotating, Predicting Pathogenicity, and mode of Inheritance for Nonsynonymous variants), a prediction method which utilizes a random forest algorithm to distinguish between nsSNVs with dominant, recessive, and benign effects. We apply MAPPIN to a set of Mendelian disease-causing mutations and accurately predict pathogenicity for all mutations. Furthermore, MAPPIN predicts mode of inheritance correctly for 70.3% of nsSNVs. MAPPIN also correctly predicts pathogenicity for 87.3% of mutations from the Deciphering Developmental Disorders Study with a 78.5% accuracy for mode of inheritance. When tested on a larger collection of mutations from the Human Gene Mutation Database, MAPPIN is able to significantly discriminate between mutations in known dominant and recessive genes. Finally, we demonstrate that MAPPIN outperforms CADD and Eigen in predicting disease inheritance modes for all validation datasets. To our knowledge, MAPPIN is the first nsSNV pathogenicity prediction algorithm that provides mode of inheritance predictions, adding another layer of information for variant prioritization. © The Author(s) 2017. Published by Oxford University Press on behalf of Nucleic Acids Research.

  9. Sildenafil increases cerebrovascular reactivity: a transcranial Doppler study.

    Science.gov (United States)

    Diomedi, M; Sallustio, F; Rizzato, B; Ferrante, F; Leone, G; Spera, E; Scarfini, M; Bernardi, G

    2005-09-27

    The authors performed a double-blind, placebo-controlled study in 28 patients to evaluate the effects of sildenafil on cerebral hemodynamics. A significant improvement of cerebrovascular reactivity, without any modification of other variables, was recorded 1 hour after the administration of 50 mg sildenafil. Further investigations are needed to evaluate whether cerebrovascular reactivity improvement could contribute to triggering sildenafil-induced migraine.

  10. Availability of endovascular therapies for cerebrovascular disease at primary stroke centers.

    Science.gov (United States)

    Alberts, Mark J; Range, Jean; Spencer, William; Cantwell, Vicki; Hampel, M J

    2017-02-01

    Background Endovascular therapies (EVTs) are useful for treating cerebrovascular disease. There are few data about the availability of such services at primary stroke centers (PSCs). Our hypothesis was that some of these services may be available at some PSCs. Methods We conducted an internet-based survey of hospitals certified as PSCs by the Joint Commission. The survey inquired about EVTs such as intra-arterial (IA) lytics, IA mechanical clot removal, coiling of aneurysms, and cervical arterial stenting, physician training, coverage models, hospital type, and outcomes. Chi-square analyses were used to detect differences between academic and community PSCs. Results Data were available from 352 PSCs, of which 75% were community hospitals, 23% academic medical centers, and 80% were non-profit; almost half (48%) see 300 or more patients annually with ischemic stroke. A majority (60%) provided some or all EVTs on site, while 29% had none on site and no plans to add them. Among the respondents offering EVTs, 95% offered stenting of neck vessels, 86% IA lytics, 80% IA mechanical, and 74% aneurysm coiling. The majority (>55%) that did offer such services provided them 24/7/365. Most endovascular coverage was provided by interventional neuroradiologists (60%), fellowship trained endovascular neurosurgeons (42%), and interventional radiologists (41%). The majority of hospitals (81%) did not participate in an audited national registry. Conclusions A variety of EVT services are offered at many PSCs by interventionalists with diverse types of training. The availability of such services is clinically relevant now with the proven efficacy of mechanical thrombectomy for ischemic stroke.

  11. Comparative magnetic resonance imaging findings between gliomas and presumed cerebrovascular accidents in dogs.

    Science.gov (United States)

    Cervera, Vicente; Mai, Wilfried; Vite, Charles H; Johnson, Victoria; Dayrell-Hart, Betsy; Seiler, Gabriela S

    2011-01-01

    Cerebrovascular accidents, or strokes, and gliomas are common intraaxial brain lesions in dogs. An accurate differentiation of these two lesions is necessary for prognosis and treatment decisions. The magnetic resonance (MR) imaging characteristics of 21 dogs with a presumed cerebrovascular accident and 17 with a glioma were compared. MR imaging findings were reviewed retrospectively by three observers unaware of the final diagnosis. Statistically significant differences between the appearance of gliomas and cerebrovascular accidents were identified based on lesion location, size, mass effect, perilesional edema, and appearance of the apparent diffusion coefficient map. Gliomas were predominantly located in the cerebrum (76%) compared with presumed cerebrovascular accidents that were located mainly in the cerebellum, thalamus, caudate nucleus, midbrain, and brainstem (76%). Gliomas were significantly larger compared with presumed cerebrovascular accidents and more commonly associated with mass effect and perilesional edema. Wedge-shaped lesions were seen only in 19% of presumed cerebrovascular accidents. Between the three observers, 10-47% of the presumed cerebrovascular accidents were misdiagnosed as gliomas, and 0-12% of the gliomas were misdiagnosed as cerebrovascular accidents. Diffusion weighted imaging increased the accuracy of the diagnosis for both lesions. Agreement between observers was moderate (kappa = 0.48, P < 0.01).

  12. Enfermedad cerebrovascular en mujeres: estado del arte y visión del cardiólogo

    Directory of Open Access Journals (Sweden)

    Johanna P. Contreras

    2018-01-01

    Full Text Available Resumen: La enfermedad cerebrovascular tiene varias denominaciones; en la actualidad se habla globalmente de ataque cerebrovascular, términos en los que se abarcan tanto manifestaciones hemorrágicas como isquémicas. Las mujeres son una población especial, con un riesgo relevante y mayores implicaciones pronósticas. Comparado con los hombres, comorbilidades como la hipertensión y la fibrilación auricular tienen mayor impacto vital y funcional en las mujeres. En el manejo no hay consideraciones que las diferencien de manera contundente, excepto en las mujeres embarazadas que requieren un ajuste especial al tratamiento, y en algunos casos no hay suficiente información para emitir una recomendación. Abstract: Cerebrovascular disease has several names and it is currently referred to as stroke, which encompasses hemorrhagic and ischemic manifestations. Women are a special population, with a relevant risk and greater prognostic implications. Comorbidities such as hypertension and atrial fibrillation have a greater impact at a vital and functional level, compared to men. Regarding management, there are no considerations that differentiate them in a definitive way, except in pregnant women (who require a special adjustment to the treatment, and in some cases there is not enough data to issue a recommendation. Palabras clave: Ataque cerebrovascular, Embarazo, Fibrilación auricular, Keywords: Stroke, Pregnancy, Atrial fibrillation

  13. Serum uric acid level as a cardio-cerebrovascular event risk factor in middle-aged and non-obese Chinese men.

    Science.gov (United States)

    Li, Zhi-Jun; Yi, Chen-Ju; Li, Jing; Tang, Na

    2017-04-11

    The role of uric acid as a risk factor for cardio-cerebrovascular diseases is controversial. In this study, we aimed to investigate the relationship between serum uric acid level and the risk of cardio-cerebrovascular events in middle-aged and non-obese Chinese men. We included 3152 participants from the health examination center of Tongji Hospital from June 2007 to June 2010. Clinical examination and medical records were collected at the annual health examination. The hazard ratios (HRs) of uric acid for cardio-cerebrovascular events were calculated by Cox proportional hazards models. Generalized additive model and threshold effect analysis were used to explore the non-linear relationship between serum uric acid level and the incidence of cardio-cerebrovascular event. The mean follow-up time was 52 months. When the participants were classified into four groups by the serum acid quarter (Q1-Q4), the HRs (95% CI) of Q2-Q4 for cardio-cerebrovascular events were 1.26 (0.83, 1.92), 1.97 (1.33, 2.91) and 2.05 (1.40, 3.01), respectively, compared with the reference (Q1). The actual incidence and conditional incidence of cardio-cerebrovascular events in the high serum acid group were higher than those in the low serum acid group, which were stratified by the turning point (sUA = 372 μmol/L). We also showed a strong prognostic accuracy of the multiple variable-based score in 3 years and 5 years, with area under the receiver operating characteristic (ROC) curve of 0.790 (0.756-0.823) and 0.777 (0.749-0.804), respectively. Serum uric acid level is a strong risk factor for cardio-cerebrovascular events.

  14. Prevalence and Incidence of Myocardial Infarction and Cerebrovascular Accident in Ageing Persons with Intellectual Disability

    Science.gov (United States)

    Jansen, J.; Rozeboom, W.; Penning, C.; Evenhuis, H. M.

    2013-01-01

    Background: Epidemiological information on age-related cardiovascular disease in people with intellectual disability (ID) is scarce and inconclusive. We compared prevalence and incidence of cerebrovascular accident and myocardial infarction over age 50 in a residential population with ID to that in a general practice population. Method: Lifetime…

  15. Signos Vitales de los CDC–Prevención de muertes por accidentes cerebrovasculares (Preventing Stroke Deaths)

    Centers for Disease Control (CDC) Podcasts

    2017-09-06

    Este podcast se basa en la edición de septiembre del 2017 del informe Signos Vitales de los CDC. Cada año, más de 140 000 personas mueren y muchos sobrevivientes quedan con discapacidades. El ochenta por ciento de los accidentes cerebrovasculares son prevenibles. Conozca los signos de un accidente cerebrovascular y sepa cómo prevenirlo.  Created: 9/6/2017 by Centers for Disease Control and Prevention (CDC).   Date Released: 9/6/2017.

  16. [Early management of cerebrovascular accidents].

    Science.gov (United States)

    Libot, Jérômie; Guillon, Benoit

    2013-01-01

    A cerebrovascular accident requires urgent diagnosis and treatment.The management of a stroke must be early and adapted in order to improve the overall clinical outcome and lower the risk of mortality.

  17. An autopsy study of cerebrovascular disease in Japanese men who lived in Hiroshima, Japan and Honolulu, Hawaii

    International Nuclear Information System (INIS)

    Mitsuyama, Yoshio; Thompson, L.R.; Hayashi, Takuji; Lee, K.K.; Keehn, R.J.

    1979-01-01

    Evidence of cerebrovascular disease at autopsy was compared in two groups of men, 186 long time residents of Hiroshima, Japan and 253 men of Japanese ancestry long resident in Honolulu, Hawaii. They were from 45 to 71 years of age at death. Atherosclerosis of the circle of Willis and its major branches, sclerosis of the intraparenchymal arteries and the frequency of cerebral hemorrhage and cerebral infarct were compared in the two populations. The Honolulu subjects had significantly more atherosclerosis of the circle of Willis, but less intraparenchymal artery sclerosis and less cerebral infarction. Cerebral hemorrhage was equally frequent in the two cities. It was concluded that cerebral infarction is more frequent in Japanese men in Hiroshima than Honolulu, and that men of Japanese ancestry in Honolulu are spared an appreciable risk of cerebral infarction through decreased frequency of intraparenchymal arterial sclerosis despite higher levels of atherosclerosis of large intracranial arteries. (author)

  18. Channelopathies - Emerging Trends in The Management of Inherited Arrhythmias

    Directory of Open Access Journals (Sweden)

    Priya Chockalingam, MBBS, MRCPCH, PhD

    2015-01-01

    Full Text Available In spite of their relative rarity, inheritable arrhythmias have come to the forefront as a group of potentially fatal but preventable cause of sudden cardiac death in children and (young adults. Comprehensive management of inherited arrhythmias includes diagnosing and treating the proband and identifying and protecting affected family members. This has been made possible by the vast advances in the field of molecular biology enabling better understanding of the genetic underpinnings of some of these disease groups, namely congenital long QT syndrome, catecholaminergic polymorphic ventricular tachycardia and Brugada syndrome. The ensuing knowledge of the genotype-phenotype correlations enables us to risk-stratify, prognosticate and treat based on the genetic test results. The various diagnostic modalities currently available to us, including clinical tools and genetic technologies, have to be applied judiciously in order to promptly identify those affected and to spare the emotional burden of a potentially lethal disease in the unaffected individuals. The therapeutic armamentarium of inherited arrhythmias includes pharmacological agents, device therapies and surgical interventions. A treatment strategy keeping in mind the risk profile of the patients, the local availability of drugs and the expertise of the treating personnel is proving effective. While opportunities for research are numerous in this expanding field of medicine, there is also tremendous scope for incorporating the emerging trends in managing patients and families with inherited arrhythmias in the Indian subcontinent.

  19. Radiation-epidemiological Study of Cerebrovascular Diseases in the Cohort of Russian Recovery Operation Workers of the Chernobyl Accident.

    Science.gov (United States)

    Kashcheev, V V; Chekin, S Yu; Maksioutov, M A; Tumanov, K A; Menyaylo, A N; Kochergina, E V; Kashcheeva, P V; Gorsky, A I; Shchukina, N V; Karpenko, S V; Ivanov, V K

    2016-08-01

    The paper presents an analysis of the incidence of cerebrovascular diseases (CeVD) in the cohort of Russian workers involved in recovery tasks after the Chernobyl accident. The studied cohort consists of 53,772 recovery operation workers (liquidators) who arrived in the zone of the Chernobyl accident within the first year after this accident (26 April 1986-26 April 1987). The mean external whole body dose in the cohort was 0.161 Gy, while individual doses varied from 0.0001 Gy to 1.42 Gy. During the follow-up period 1986-2012, a total of 23,264 cases of CeVD were diagnosed as a result of annual health examinations. A Poisson regression model was applied for estimation of radiation risks and for an assessment of other risk factors of CeVD. The following factors were considered as risk factors for CeVD: the dose, duration of the liquidators' work in the Chernobyl zone, and the concomitant diseases (hypertension, ischemic heart disease, atherosclerosis, and diabetes). The baseline incidence of CeVD is statistically significantly (p Chernobyl zone; for those who stayed in the Chernobyl zone less than 6 wk, ERR/Gy = 0.64, 95% CI = (0.38; 0.93), p < 0.001. Among studied concomitant diseases, diabetes mellitus statistically significantly (p = 0.002) increases the radiation risk of CeVD: for liquidators with diagnosed diabetes, ERR/Gy = 1.29.

  20. Polyarticular gout attacks following cerebrovascular accidents: is hemiparesis in fact protective? 2 cases and a review of the literature.

    Science.gov (United States)

    Hsiao, Susan J; Vaynrub, Maksim; Furer, Victoria; Samuels, Jonathan

    2010-09-01

    Cerebrovascular disease appears to have implications on rheumatic diseases, including gout. Accumulating evidence suggests that hemiparesis exerts a protective effect against gout via the down-regulation of mechanical and neural modulators of inflammation in neurologically impaired extremities. We present 2 divergent cases of unilateral gout following cerebrovascular events. One patient with a hemorrhagic stroke developed polyarticular gout only on the ipsilateral side to his hemiparesis, while another patient with basilar artery thrombosis and locked-in syndrome suffered a polyarticular gout flare only on the side that had regained limited function. As suggested by these cases, the effect of hemiparesis on gout is complex. Further insight into the interplay between gouty flares and hemiparesis may lead to novel therapeutic strategies for gout.

  1. Effects of cerebrovascular disease on amyloid precursor protein metabolites in cerebrospinal fluid

    Directory of Open Access Journals (Sweden)

    Rosengren Lars

    2010-07-01

    Full Text Available Abstract Background Alzheimer's disease (AD and cerebrovascular disease (CVD including chronic small vessel disease of the brain (SVD are the most frequent causes of dementia. AD is associated with metabolism of amyloid precursor protein (APP and low levels of amyloid-β peptide (Aβ X-42 in the cerebrospinal fluid (CSF. CVD and SVD are established risk factors for AD, brain white matter lesions (WML are established surrogate markers for SVD and are also associated with reduced CSF AβX-42. A cohort survey was performed to examine whether SVD or acute CVD affects APP metabolism and to explore a potential association between WML and APP metabolism in two groups; cognitively impaired patients, subjective and mild (SCI and MCI and stroke patients. Through measurements of CSF APP metabolite levels in patients with a wide range of WML volumes, this study aimed to determine how SVD influences APP metabolism. Methods Sixty-three patients were included: 37 with subjective cognitive impairment (SCI or mild cognitive impairment (MCI without stroke, and 26 after acute stroke. Chronic and acute WML volume and infarct volume were determined by magnetic resonance imaging (MRI post-scan processing, and CSF levels of α- and β-cleaved soluble APP (sAPP-α and sAPP-β, AβX-38, AβX-40 and AβX-42 were determined. The Mann-Whitney test was used to compare the patient groups. Chronic and acute WML volumes, infarct volume, age, and sex were used as predictors for CSF biomarker levels in linear regression analysis. Results CSF levels of sAPP-α and sAPP-β were strongly correlated (r = 0.95, p p p p ≤ 0.005; p ≤ 0.01; p ≤ 0.01; p ≤ 0.05; p ≤ 0.05 respectively, but not with acute WML or infarct volumes. Conclusions Lower CSF levels of sAPP-α and sAPP-β in the stroke group than in the SCI/MCI group and an inverse correlation with chronic WML indicate that ischemia lowers the levels of CSF sAPP metabolites and suggests that APP axonal transport or

  2. Cerebrovascular accidents associated with sorafenib in hepatocellular carcinoma.

    Science.gov (United States)

    Saif, Muhammad W; Isufi, Iris; Peccerillo, Jennifer; Syrigos, Kostas N

    2011-01-01

    Sorafenib is an oral angiogenetic multikinase inhibitor approved in the treatment of renal and hepatocellular carcinoma. Bleeding and venous thrombotic events have been described with angiogenetic agents but cerebrovascular accidents are rarely reported. We report two cases of patients with hepatocellular carcinoma who developed a cerebrovascular accident while on sorafenib. Neither patient had any risk factors for the cerebrovascular events apart from gender and age in the second patient. Laboratory data were noncontributory. The head CT scan did not reveal acute abnormalities. No hemodynamically significant stenosis was visible in the carotid ultrasound, and the echocardiogram showed normal size of the heart chambers and normal systolic function of the left ventricle. Sorafenib was discontinued in both cases. Physicians should monitor patients receiving sorafenib for neurologic symptoms, and in the absence of other etiology, prompt discontinuation of this drug should be considered.

  3. Constraints of behavioural inheritance

    NARCIS (Netherlands)

    Roubtsova, E.E.; Roubtsov, S.A.; Oquendo, F.; Warboys, B.; Morrison, R.

    2004-01-01

    We present an approach to component inheritance and reuse which closes the gap between architectural design and process-oriented approaches. To apply inheritance checks in design and verification of a system, one should consider an inheritance relation as a property of the system and specify it as

  4. Ethics of Inheritance

    OpenAIRE

    Guibet Lafaye , Caroline

    2008-01-01

    International audience; Both in the U.S. and in France, inheritance is probably the main factor of wealth concentration among the richest part of the population, and of its intergenerational reproduction. In so far as wealth is an opportunity, a reform of inheritance tax could be a mean to ensure a fairer distribution of opportunities in the society. Many reforms of inheritance systems have been conceived at least since Bentham. The identification and the analysis of ethical properties of ref...

  5. Risk factors for cerebrovascular disease mortality among the elderly in Beijing: a competing risk analysis.

    Directory of Open Access Journals (Sweden)

    Zhe Tang

    Full Text Available OBJECTIVE: To examine the associations of combined lifestyle factors and physical conditions with cerebrovascular diseases (CBVD mortality, after accounting for competing risk events, including death from cardiovascular diseases, cancers and other diseases. METHODS: Data on 2010 subjects aged over 55 years were finally analyzed using competing risk models. All the subjects were interviewed by the Beijing Longitudinal Study of Aging (BLSA, in China, between 1 January 1992 and 30 August 2009. RESULTS: Elderly females were at a lower risk of death from CBVD than elderly males (HR = 0.639, 95% CI = 0.457-0.895. Increasing age (HR = 1.543, 95% CI = 1.013-2.349, poor self-rated health (HR = 1.652, 95% CI = 1.198-2.277, hypertension (HR = 2.201, 95% CI = 1.524-3.178 and overweight (HR = 1.473, 95% CI = 1.013-2.142 or obesity (HR = 1.711, 95% CI = 1.1754-2.490 was associated with higher CBVD mortality risk. Normal cognition function (HR = 0.650, 95% CI = 0.434-0.973 and living in urban (HR = 0.456, 95% CI = 0.286-0.727 was associated with lower CBVD mortality risk. Gray's test also confirmed the cumulative incidence (CIF of CBVD was lower in the 'married' group than those without spouse, and the mortality was lowest in the 'nutrition sufficient' group among the 'frequent consumption of meat group' and the 'medial type group' (P value<0.001. CONCLUSIONS: CBVD mortality was associated with gender, age, blood pressure, residence, BMI, cognitive function, nutrition and the result of self-rated health assessment in the elderly in Beijing, China.

  6. Second-generation antipsychotics and risk of cerebrovascular accidents in the elderly.

    Science.gov (United States)

    Percudani, Mauro; Barbui, Corrado; Fortino, Ida; Tansella, Michele; Petrovich, Lorenzo

    2005-10-01

    Concern has been recently raised for risperidone and olanzapine, possibly associated with cerebrovascular events in placebo-controlled trials conducted in elderly subjects with dementia. We investigated the relationship between exposure to second-generation antipsychotics (SGAs) and occurrence of cerebrovascular accidents in the elderly. From the regional database of hospital admissions of Lombardy, Italy, we extracted all patients aged 65 or older with cerebrovascular-related outcomes for the year 2002. From the regional database of prescriptions reimbursed by the National Health Service, we extracted all patients aged 65 or older who received antipsychotic prescriptions during 2001. The 2 databases were linked anonymously using the individual patient code. The proportions of cerebrovascular accidents were 3.31% (95% confidence interval, 2.95-3.69) in elderly subjects exclusively exposed to SGAs and 2.37% (95% confidence interval, 2.19-2.57) in elderly subjects exclusively exposed to first-generation antipsychotics. After background group differences were controlled for, exposure to SGAs significantly increased the risk of accidents. The analysis of cerebrovascular events in elderly subjects exposed to each individual SGA, in comparison with exposure to haloperidol, showed a significantly increased risk for risperidone only (adjusted odds ratio, 1.43; 95% confidence interval, 1.12-1.93). These data provide preliminary epidemiological evidence that exposure to SGAs, in comparison with exposure to first-generation antipsychotics, significantly increased the risk of cerebrovascular accidents in the elderly.

  7. Hipertensión arterial sistólica. Impacto sobre la enfermedad cerebrovascular.

    Directory of Open Access Journals (Sweden)

    María C. Valle Campo

    2011-08-01

    Full Text Available Fundamento: La aterosclerosis es un proceso multifactorial sobre el cual actúan varios factores de riesgo. Constituye la principal causa de muerte y de morbilidad en ingresados hospitalarios, y puede ocasionar una acentuada disminución del flujo sanguíneo hacia todos los órganos del cuerpo humano
    Objetivo
    : Determinar el impacto de la hipertensión arterial sistólica sobre la enfermedad cerebrovascular.
    Métodos
    : Se realizó un estudio transversal, observacional y analítico, en 59 fallecidos hipertensos. Se analizaron las arterias cerebrales y se cuantificó la lesión aterosclerótica y su variedad, aplicándose el sistema aterométrico, teniendo en cuenta los tipos de hipertensión arterial. Se emplearon procedimientos estadísticos (medidas de tendencia central y comparativos (prueba de comparación de media aritmética basadas en el test “t” de student.
    Resultados: Los infartos cerebrales recientes fueron más frecuentes en hipertensos sistodiastólicos. No hubo diferencia significativa en cuanto a la edad en el momento de aparición de las lesiones para ambos sexos, pero las mujeres con hipertensión sistólica, fueron significativamente más dañadas desde el punto de vista morfométrico. Se observó correlación significativa para ambos grupos de hipertensos entre tipo de accidente cerebrovascular y variables del sistema aterométrico. Conclusiones: La hipertensión arterial sistólica es un factor importante en la génesis de la enfermedad vasculocerebral y está asociada con la progresión de la placa de ateroma.

    SYSTOLIC HYPERTENSION. IMPACT ON CEREBROVASCULAR DISEASE

    Background: Atherosclerosis is a multifactor process in which several risk factors are involved. It is the leading cause of death and morbidity in hospital admitted patients, and it may cause

  8. Cerebral blood flow mapping using stable xenon-enhanced CT in sickle cell cerebrovascular disease

    International Nuclear Information System (INIS)

    Numaguchi, Y.; Robinson, A.E.; Carey, J.E.

    1990-01-01

    The cerebral blood flow (CBF) of 25 patients with sickle cell cerebrovascular disease (SCCVD) was examined using a xenon-CT flow mapping method. Brain CT and MR findings were correlated with those of the xenon-CT flow studies. CBF defects on xenon-CT correlated reasonably well with the areas of cortical infarctions on the MR images, but in 27% of the cases, flow defects were slightly larger than the areas of infarctions on the MR images. In deep watershed or basal ganglia infarctions, abnormal CBF was noted about the cerebral cortex near infarctions in 72% of the patients, regardless of infarction sizes on the MR images. However, decreased CBF was recognized in 4 of the 9 children whose MR images were virtually normal. Thus, the extent of flow depletion cannot be predicted accurately by MR imaging alone. Xenon-CT flow mapping proved a safe and reliable procedure for evaluation of the CBF of patients with SCCVD. Although this study is preliminary, it may have a potential in selecting patients for hypertransfusion therapy, as a noninvasive test and for following children with SCCVD during their therapy. Careful correlation of results of CBF with those of MR imaging or of CT is important for objective interpretations of flow mapping images. (orig.)

  9. Compiler generation based on grammar inheritance

    NARCIS (Netherlands)

    Aksit, Mehmet; Mostert, Rene; Haverkort, Boudewijn R.H.M.

    1990-01-01

    The concept of grammar inheritance is introduced. Grammar inheritance is a structural organization of grammar rules by which a grammar inherits rules from ancestor grammars or may have its own rules inherited by descendant grammars. Grammar inheritance supports reusability and extensibility of

  10. Vascular risk factors, cerebrovascular reactivity, and the default-mode brain network.

    Science.gov (United States)

    Haight, Thaddeus J; Bryan, R Nick; Erus, Guray; Davatzikos, Christos; Jacobs, David R; D'Esposito, Mark; Lewis, Cora E; Launer, Lenore J

    2015-07-15

    Cumulating evidence from epidemiologic studies implicates cardiovascular health and cerebrovascular function in several brain diseases in late life. We examined vascular risk factors with respect to a cerebrovascular measure of brain functioning in subjects in mid-life, which could represent a marker of brain changes in later life. Breath-hold functional MRI (fMRI) was performed in 541 women and men (mean age 50.4 years) from the Coronary Artery Risk Development in Young Adults (CARDIA) Brain MRI sub-study. Cerebrovascular reactivity (CVR) was quantified as percentage change in blood-oxygen level dependent (BOLD) signal in activated voxels, which was mapped to a common brain template and log-transformed. Mean CVR was calculated for anatomic regions underlying the default-mode network (DMN) - a network implicated in AD and other brain disorders - in addition to areas considered to be relatively spared in the disease (e.g. occipital lobe), which were utilized as reference regions. Mean CVR was significantly reduced in the posterior cingulate/precuneus (β=-0.063, 95% CI: -0.106, -0.020), anterior cingulate (β=-0.055, 95% CI: -0.101, -0.010), and medial frontal lobe (β=-0.050, 95% CI: -0.092, -0.008) relative to mean CVR in the occipital lobe, after adjustment for age, sex, race, education, and smoking status, in subjects with pre-hypertension/hypertension compared to normotensive subjects. By contrast, mean CVR was lower, but not significantly, in the inferior parietal lobe (β=-0.024, 95% CI: -0.062, 0.014) and the hippocampus (β=-0.006, 95% CI: -0.062, 0.050) relative to mean CVR in the occipital lobe. Similar results were observed in subjects with diabetes and dyslipidemia compared to those without these conditions, though the differences were non-significant. Reduced CVR may represent diminished vascular functionality for the DMN for individuals with prehypertension/hypertension in mid-life, and may serve as a preclinical marker for brain dysfunction in later

  11. Light and inherited retinal degeneration

    OpenAIRE

    Paskowitz, D M; LaVail, M M; Duncan, J L

    2006-01-01

    Light deprivation has long been considered a potential treatment for patients with inherited retinal degenerative diseases, but no therapeutic benefit has been demonstrated to date. In the few clinical studies that have addressed this issue, the underlying mutations were unknown. Our rapidly expanding knowledge of the genes and mechanisms involved in retinal degeneration have made it possible to reconsider the potential value of light restriction in specific genetic contexts. This review summ...

  12. Clinical aspects and prognosis of intraventricular hemorrhage with cerebrovascular disease. CT findings and etiological analysis

    Energy Technology Data Exchange (ETDEWEB)

    Ikeda, Yukio; Nakazawa, Shozo; Higuchi, Hiroshi; Ueda, Kenji; Kouzo, [Nippon Medical School, Tokyo

    1982-10-01

    Intraventricular hemorrhage with cerebrovascular disease was identified in 81 cases and death occurred within seven days in 34 cases. Hypertension was the most common etiological factor, accounting for 40 of the 81 cases. Cerebral aneurysm was the second most common cause accounting for 27 cases, arteriovenous malformation accounted for 9 of the cases, and 5 were of other causes. Signs of primary or secondary brain stem dysfunction were mainly seen in cases with hypertension and aneurysm, while cases with arteriovenous malformation had benign courses. The mortality depended on the severity of intraventricular hemorrhage; i.e., the distribution, site, and the number of cast formation. The presence of intraventricular clot in the third and/or fourth ventricles was correlated with a high mortality rate, especially in cases accompanied by cast formation and third and fourth ventricular dilatation, which affects hypothalamus and brain stem function. Analysis of CT findings for the mechanism of intraventricular hemorrhage revealed three types: extension type, in which massive intracerebral hematomas extended and ruptured into ventricles; the direct type, which bled directly into ventricles without forming definite intracerebral hematomas; and the reflux type, which was characterized by reflux of the subarachnoid blood.

  13. SWJ:39-42 Inheritance of Pod Colour in Cowpea INHERITANCE

    African Journals Online (AJOL)

    Dr. Ahmed

    Mustapha & Singh (2008) SWJ:39-42. Inheritance of Pod Colour in Cowpea. INHERITANCE OF POD COLOUR IN. COWPEA (Vigna unguiculata (L.) WALP). * MUSTAPHA, Y1. & SINGH, B. B2. 1 Department of Biological Sciences. Bayero University, Kano Nigeria. 2 Department of Genetics and Plant breeding,. G.B. Pant ...

  14. Endocrine Dysfunctions in Patients with Inherited Metabolic Diseases.

    Science.gov (United States)

    Erdöl, Şahin; Sağlam, Halil

    2016-09-01

    Inherited metabolic diseases (IMDs) can affect many organ systems, including the endocrine system. There are limited data regarding endocrine dysfunctions related to IMDs in adults, however, no data exist in pediatric patients with IMDs. The aim of this study was to investigate endocrine dysfunctions in patients with IMDs by assessing their demographic, clinical, and laboratory data. Data were obtained retrospectively from the medical reports of patients with IMDs who were followed by the division of pediatric metabolism and nutrition between June 2011 and November 2013. In total, 260 patients [139 males (53%) and 121 females (47%)] with an IMD diagnosis were included in the study. The mean age of the patients was 5.94 (range; 0.08 to 49) years and 95.8% (249 of 260 patients) were in the pediatric age group. Growth status was evaluated in 258 patients and of them, 27 (10.5%) had growth failure, all cases of which were attributed to non-endocrine reasons. There was a significant correlation between growth failure and serum albumin levels below 3.5 g/dL (p=0.002). Only three of 260 (1.1%) patients had endocrine dysfunction. Of these, one with lecithin-cholesterol acyltransferase deficiency and another with Kearns-Sayre syndrome had diabetes, and one with glycerol kinase deficiency had glucocorticoid deficiency. Endocrine dysfunction in patients with IMDs is relatively rare. For this reason, there is no need to conduct routine endocrine evaluations in most patients with IMDs unless a careful and detailed history and a physical examination point to an endocrine dysfunction.

  15. Synthesis and Bio-Activity Evaluation of Scutellarein as a Potent Agent for the Therapy of Ischemic Cerebrovascular Disease

    Directory of Open Access Journals (Sweden)

    An-Wei Ding

    2011-11-01

    Full Text Available Scutellarein, the main metabolite of scutellarin in vivo, has relatively better solubility, bioavailability and bio-activity than scutellarin. However, it is very difficult to obtain scutellarein in nature compared with scutellarin. Therefore, the present study focused on establishing an efficient route for the synthesis of scutellarein by hydrolyzing scutellarin. The in vitro antioxidant activities of scutellarein were evaluated by measuring its scavenging capacities toward DPPH, ABTS+•, •OH free radicals and its protective effect on H2O2-induced cytotoxicity in PC12 cells using MTT assay method. The results showed that essential point to the synthesis was the implementation of H2SO4 in 90% ethanol in N2 atmosphere; scutellarein had stronger antioxidant activity than scutellarin. The results have laid the foundation for further research and the development of scutellarein as a promising candidate for ischemic cerebrovascular disease.

  16. Context is everything: From cardiovascular disease to cerebral microbleeds.

    Science.gov (United States)

    Charidimou, Andreas; Blacker, Deborah; Viswanathan, Anand

    2018-01-01

    Increasingly, our approach to cerebrovascular disease has become blurred by evidence published in literature often without careful consideration of what this evidence implies for specific patients at hand. In this essay, we analyze key contextual issues in cerebrovascular small vessel disease, in an attempt to highlight the symbolic gap that exists between research and clinical practice, a recurring theme in medicine. We highlight the importance of considering context when using data from epidemiologic, neuroimaging, and biomarker studies in determining relevance to the patient at hand. We argue, that while biomarkers and neuroimaging may eventually serve to help to identify individuals with specific cerebrovascular diseases, we must always continue to understand patients in a specific clinical context. These reflections are particularly relevant when considering cerebral microbleeds-a key marker of cerebrovascular small vessel disease whose detection often raises thorny clinical dilemmas.

  17. A human model for multigenic inheritance : Phenotypic expression in Hirschsprung disease requires both the RET gene and a new 9q31 locus

    NARCIS (Netherlands)

    Bolk, S; Pelet, A; Hofstra, RMW; Angrist, M; Salomon, R; Croaker, D; Buys, CHCM; Lyonnet, S; Chakravarti, A

    2000-01-01

    Reduced penetrance in genetic disorders may be either dependent or independent of the genetic background of gene carriers. Hirschsprung disease (HSCR) demonstrates a complex pattern of inheritance with approximate to 50% of familial cases being heterozygous for mutations in the receptor tyrosine

  18. Resultados del tratamiento fisioterapéutico mediato en pacientes con enfermedad cerebrovascular Results from the immediate physiotherapeutic treatment in patients diagnosed with cerebrovascular disease

    Directory of Open Access Journals (Sweden)

    Enrique Arce Morera

    2010-12-01

    Full Text Available Se realizó un estudio que comienza prospectivo, pero continúa y termina descriptivo sobre la enfermedad cerebrovascular, con los casos nuevos que fueron tratados en el Servicio de Rehabilitación Municipal de Artemisa en el año 2008, con el objetivo general de describir los resultados del tratamiento mediato. De un universo de 46 pacientes, la muestra tomada consistió en 25 pacientes, y como la población fue pequeña, se tomaron los catalogados como hemiparéticos, para comparar su evolución clínica al cabo de 6 meses de tratamiento normado e individualizado. Para comparar su grado de efectividad se utilizó la dócima de Mc Nemar o método de los 4 cuadros, utilizado en muestras pequeñas para buscar significación estadística y que los valores obtenidos no se deban al azar. En cuanto a los resultados: de los 14 casos que recibieron tratamiento de rehabilitación en etapas mediatas, 9 de ellos (63,7 % tuvieron mejoría clínica evidente al pasar al estadio de solo presentar signos neurológicos mínimos (definición operacional de variable. Hubo un predominio del grupo perteneciente al sexo masculino con un total de 30 casos, el 37 % estuvo en edades comprendidas entre 60 y 69 años, y el estadio clínico de hemiparéticos predominó de todos los casos (54,6 %.A prospective study was conducted which start and end in a descriptive way on the cerebrovascular disease with the new cases treated in the Municipal Rehabilitation Service of Artemisa municipality during 2008, with the general objective of to describe the results from the mediate treatment. From a universe including 40 patients, the sample was of 25 patients and due to the population was small; we selected those considered hemiparetic to compare its clinical course at 6 months of standardized and individualized treatment. To compare its effectiveness degree we used the McNemar's docime or the method of four pictures used in small samples to seek a statistic significance and that

  19. Asymptomatic internal carotid artery stenosis and cerebrovascular risk stratification

    DEFF Research Database (Denmark)

    Nicolaides, Andrew N; Kakkos, Stavros K; Kyriacou, Efthyvoulos

    2010-01-01

    The purpose of this study was to determine the cerebrovascular risk stratification potential of baseline degree of stenosis, clinical features, and ultrasonic plaque characteristics in patients with asymptomatic internal carotid artery (ICA) stenosis.......The purpose of this study was to determine the cerebrovascular risk stratification potential of baseline degree of stenosis, clinical features, and ultrasonic plaque characteristics in patients with asymptomatic internal carotid artery (ICA) stenosis....

  20. Mechanisms of Lethal Cerebrovascular Accidents in Turner Syndrome.

    Science.gov (United States)

    Byard, Roger W

    2016-05-01

    A case of intracerebral hemorrhage in Turner syndrome is reported with an analysis of possible causes of cerebrovascular accidents in this condition. A 42-year-old woman with known Turner syndrome died soon after hospital admission having been found unconscious at her home address. At autopsy, she showed typical features of Turner syndrome with short stature, webbing of the neck, underdeveloped breasts, and an increased carrying angle of the arm. Death was due to a large left-sided intracerebral hemorrhage extending from the left basal ganglia into the white matter of the frontal lobe and lateral ventricle. Cases of unexpected death in Turner syndrome may arise from occult cerebrovascular accidents which may be hemorrhagic or nonhemorrhagic. Associated features include hypertension, vascular malformations, accelerated atherogenesis, cystic medial necrosis, and moyamoya syndrome. The possibility of Turner syndrome should be considered in cases where there has been a lethal cerebrovascular event in a younger woman. © 2016 American Academy of Forensic Sciences.

  1. Electrocardiographic manifestations of inherited heart diseases – a sports cardiologist’s point ofview. Part 2. Ion channel diseases

    Directory of Open Access Journals (Sweden)

    Zbigniew Krenc

    2015-09-01

    Full Text Available Physical activity is associated with an increased risk of sudden death for individuals with an undiagnosed cardiovascular disease. Medical evaluations, including a resting electrocardiogram, conducted before and during physical training, enable the identification of still asymptomatic athletes with life-threatening heart diseases and help to protect them from sudden cardiac death. The incidence of sudden cardiac death is estimated at two cases for each 100,000 young athletes per year and it is 2–4 times higher when compared with non-athletes. The most common causes of sudden cardiac death in athletes younger than 35 are cardiomyopathies: hypertrophic cardiomyopathy and arrhythmogenic right ventricular cardiomyopathy. Three to four per cent of young athletes who die suddenly have no evidence of a structural heart disease, and the cause of their cardiac arrest is primarily electrical heart diseases, such as inherited cardiac ion channel defects (channelopathies, including long and short QT syndromes, Brugada syndrome, and catecholaminergic polymorphic ventricular tachycardia The clinical courses of all these channelopathies are highly varied. They can be asymptomatic. In certain cases, episodic syncope or aborted cardiac arrest can occur. Sudden cardiac death, especially during physical exercise, can be the first sign. The aim of this article was to provide some information helpful in the recognition of electrocardiographic changes in genetic ion channel diseases, especially in the context of the prevention of sudden cardiac events in young athletes.

  2. Coronary heart disease after radiotherapy for peptic ulcer disease

    International Nuclear Information System (INIS)

    Carr, Zhanat A.; Land, Charles E.; Kleinerman, Ruth A.; Weinstock, Robert W.; Stovall, Marilyn; Griem, Melvin L.; Mabuchi, Kiyohiko

    2005-01-01

    Purpose: To evaluate the risk of coronary heart disease (CHD) and cerebrovascular disease after radiotherapy (RT) for peptic ulcer disease. Methods and materials: Peptic ulcer disease patients treated with RT (n = 1859) or by other means (n = 1860) at the University of Chicago Medical Center between 1936 and 1965, were followed through 1997. The observed numbers of cause-specific deaths were compared with the expected numbers from the general population rates. During RT, 5% of the heart was in the treatment field and the remainder of the heart mostly received scattered radiation. A volume-weighted cardiac dose was computed to describe the average tissue dose to the entire organ. We used Cox proportional hazards regression analysis to analyze the CHD and cerebrovascular disease risk associated with RT, adjusting for confounding factors. Results: Greater than expected CHD mortality was observed among the irradiated patients. The irradiated patients received volume-weighted cardiac doses ranging from 1.6 to 3.9 Gy and the portion of the heart directly in the field received doses of 7.6-18.4 Gy. The CHD risk increased with the cardiac dose (p trend = 0.01). The cerebrovascular disease risk was not associated with the surrogate carotid dose. Conclusion: The excess CHD risk in patients undergoing RT for peptic ulcer disease decades previously indicates the need for long-term follow-up for cardiovascular disease after chest RT

  3. Regional cerebral blood studies by the xenon-133 inhalation method in cases of cerebrovascular diseases

    International Nuclear Information System (INIS)

    Shimomura, Takahide

    1982-01-01

    rCBF was measured 428 times in 191 patients and 15 healthy volunteers by the Xenon-133 inhalation technique. The two-compartment analysis and the estimate of initial slope index were performed. There was no difference in blood flow between the two hemispheres in the 15 healthy volunteers, whose mean age was 36.5 +- 13.5 years (F 1 , right: 83.1 +- 11.4; left: 85.1 +- 12.1; 1Sl, right: 51.6 +- 6.3; left: 52.4 +- 6.0). Good correlation with a correlation coefficient of 0.965 was observed between the value obtained by the Xenon-133 inhalation and intracarotid methods in 14 patients with brain diseases. Reproducibilities of the Xenon-133 inhalation technique by serial measurement of rCBF at intervals of 30 - 40 minutes and 3 - 5 days were almost the same, with a variation coefficient of 3.7% and a correlation coefficient of 0.98. Repeated rCBF measurement by the Xenon-133 inhalation was performed during a long follow-up period of up to 1 year after bypass surgery. In 28 adult patients with occlusive cerebrovascular disease, CBF values of most patients stabilized in normal range within 3 months after the operation. In 12 patients with Moyamoya disease, CBF values were distributed over a wide range preoperatively, and increased gradually and tended to stabilize in the relatively subnormal range within 3 months after operation. This clinical experience indicates that the Xenon-133 inhalation method is a useful and safe procedure for the determination of rCBF, especially for repeated studies in cases with bypass surgery during long postoperative follow-up periods and for measurement of rCBF in child cases. (J.P.N.)

  4. Inheritance versus parameterization

    DEFF Research Database (Denmark)

    Ernst, Erik

    2013-01-01

    This position paper argues that inheritance and parameterization differ in their fundamental structure, even though they may emulate each other in many ways. Based on this, we claim that certain mechanisms, e.g., final classes, are in conflict with the nature of inheritance, and hence causes...

  5. Diabetes mellitus: long-term prognostic value of whole-body MR imaging for the occurrence of cardiac and cerebrovascular events.

    Science.gov (United States)

    Bamberg, Fabian; Parhofer, Klaus G; Lochner, Elena; Marcus, Roy P; Theisen, Daniel; Findeisen, Hannes M; Hoffmann, Udo; Schönberg, Stefan O; Schlett, Christopher L; Reiser, Maximilian F; Weckbach, Sabine

    2013-12-01

    To study the predictive value of whole-body magnetic resonance (MR) imaging for the occurrence of cardiac and cerebrovascular events in a cohort of patients with diabetes mellitus (DM). This HIPAA-compliant study was approved by the institutional review board. Informed consent was obtained from all patients before enrollment into the study. The authors followed up 65 patients with DM (types 1 and 2) who underwent a comprehensive, contrast material-enhanced whole-body MR imaging protocol, including brain, cardiac, and vascular sequences at baseline. Follow-up was performed by phone interview. The primary endpoint was a major adverse cardiac and cerebrovascular event (MACCE), which was defined as composite cardiac-cerebrovascular death, myocardial infarction, cerebrovascular event, or revascularization. MR images were assessed for the presence of systemic atherosclerotic vessel changes, white matter lesions, and myocardial changes. Kaplan-Meier survival and Cox regression analyses were performed to determine associations. Follow-up was completed in 61 patients (94%; median age, 67.5 years; 30 women [49%]; median follow-up, 70 months); 14 of the 61 patients (23%) experienced MACCE. Although normal whole-body MR imaging excluded MACCE during the follow-up period (0%; 95% confidence interval [CI]: 0%, 17%), any detectable ischemic and/or atherosclerotic changes at whole-body MR imaging (prevalence, 66%) conferred a cumulative event rate of 20% at 3 years and 35% at 6 years. Whole-body MR imaging summary estimate of disease was strongly predictive for MACCE (one increment of vessel score and each territory with atherosclerotic changes: hazard ratio, 13.2 [95% CI: 4.5, 40.1] and 3.9 [95% CI: 2.2, 7.5], respectively), also beyond clinical characteristics as well as individual cardiac or cerebrovascular MR findings. These initial data indicate that disease burden as assessed with whole-body MR imaging confers strong prognostic information in patients with DM. Online

  6. Significance of determination of the serum levels of homocysteine (Hcy) and insulin-like growth factor-II (IGF-II) in patients with cerebrovascular diseases

    International Nuclear Information System (INIS)

    Tong Haijiang; Wang Yaling; Wang Lin; Xia Weiren; Shi Min; Lu Yaling

    2006-01-01

    Objective: To investigate the clinical significance of the changes of homocysteine (Hcy) and insulin-like growth factor H (IGF-II) in patients with cerebrovascular diseases (CVD). Methods: The serum Hcy (with CLIA) and IGF-II (with RIA) levels were measured in 123 patients with CVD (cerebral infarction 69 and cerebral hemorrhage 54) and 43 controls. Results: The levels of Hcy and IGF-II in patients with CVD were significantly higher than those in the controls (P 0.05). Conclusion: The serum Hcy and IGF-II levels in patients with CVD are elevated, Hcy and IGF-II may be involved in the development and pathogenesis of CVD. (authors)

  7. Apathy due to cerebrovascular accidents successfully treated with methylphenidate: a case series.

    Science.gov (United States)

    Spiegel, David R; Kim, Jeffrey; Greene, Krista; Conner, Cheryl; Zamfir, Dan

    2009-01-01

    Apathy has been observed in various types of neuropsychiatric illness, including degenerative, traumatic, and cerebrovascular. In this article, the authors describe the neurobiology of cerebrovascular induced apathy and its treatment.

  8. [Effect of air pollution on health service demand of the elderly and middle-age patients with hypertension, cardiovascular and cerebrovascular diseases: based on analysis of data from CHARLS].

    Science.gov (United States)

    Shan, J; Li, H Y; Liu, G F; Yang, X; Dong, W; Jian, W Y; Deng, F R; Guo, X B

    2016-06-18

    To study the association of air pollution with health service demand of the elderly and middle-age patients with cardiovascular and cerebrovascular diseases, and to provide a scientific basis for development of environmental protection policy and health service policy of the Chinese government. This study included survey data on self-evaluated health, outpatient service demand and inpatient service demand of the patients with hypertension, heart disease and stroke in 62 cities of 17 provinces from China Health and Retirement Longitudinal Study (CHARLS) in 2011 and 2013, and combined it with the data on the annual concentrations of inhalable particulate matter (PM(10)), sulfur dioxide(SO(2)) and nitrogen dioxide (NO(2)) of those provinces and cities. Conditional Logistic regression was carried out to assess the possible effects of air pollutants on self-evaluated health and health service utilization. The results showed that turning points existed in the effects of concentrations of NO(2) and SO(2) on the health service demand of the patients with hypertension, heart disease and stroke. The inpatient service demand of the hypertension patients increased with NO(2) concentration when it was lower than 35.1 μg/m(3) and decreased with NO(2) concentration for higher value. Self-evaluated health of the patients with heart disease and stroke decreased with SO(2) concentration when it was lower than 63.8 μg/m(3) and increased with SO(2) concentration for higher value. In addition, no evidence was found for the association between PM(10) and health service demand. Air pollution may have effects on health service demand of the patients with hypertension,cardiovascular and cerebrovascular diseases, and different air pollutants at high or low concentration may have different health effects.

  9. PHARMACOLOGICAL TREATMENT, LIFESTYLE MODIFICATION AND AWARENESS IN CORONARY ARTERY AND CEREBROVASCULAR DISEASE PATIENTS

    Directory of Open Access Journals (Sweden)

    Mojgan Gharipour

    2010-12-01

    Full Text Available Abstract INTRODUCTION: Cardiovascular diseases (CVD and cerebrovascular diseases (CeVD are a large and growing problem in low- and middle-income populations. Secondary prevention, which can reduce the risk of recurrent CVD includes changes in lifestyle, pharmacological interventions and revascularization procedures. The aim of the first phase of this project was to perform situation analysis and identify gaps in secondary prevention of major cardiovascular diseases. This study estimated the physicians' awareness and the patients' knowledge and behavior towards CVD and CeVD complications. It also assessed the efficacy of methods for decreasing recurrent events. methods: A sample of consecutive patients was selected from the outpatient units of the health care facilities selected for the study. Stratified random sampling of primary and secondary private and public health care facilities in cities and villages was performed to select 449 eligible cases. A total of 257 men and 192 women were selected. The inclusion criteria were as follows: Age above 21 years, established diagnosis of CVD and/or CeVD defined as any of the following alone or in combination with others: previous myocardial infarction, stable/unstable angina, percutaneous transluminal coronary angioplasty (PTCA, coronary artery bypass graft (CABG, stroke, transient ischemic attack (TIA, and/or carotid arterectomy. The patients were included if their first event had occurred more than a month, but no earlier than three years before the study. results: The prevalence of high systolic and diastolic blood pressure was 40.1% and 26.9% respectively in MI patients, and 70.1% and 51.2% respectively in CeVD patients. In most of the patients, fasting blood sugar and total cholesterol were within the normal range. Among MI patients, 93.9%, 68.5% and 48.2% were already taking aspirin, beta-blockers and statins, respectively. Among CeVD patients, 79.9%, 61.1% and 23.2% were taking aspirin, beta

  10. Results of CT brain examinations in cerebrovascular emergency

    International Nuclear Information System (INIS)

    Pinta, Z.; Dolansky, J.; Sorfova, J.; Jerie, T.

    1987-01-01

    Experience is briefly reported with CT (computerized tomography) diagnosis of cerebrovascular emergencies. It is pointed out that the introduction of computerized tomography greatly improved and made more accurate the diagnosis of focal ischemias and revealed significant differences in the foci of ischemia in hypertension patients and atherosclerosis patients without hypertension, and showed a higher incidence of intracerebral and subarachnoidal hemorrhages than previously thought. It is believed that knowledge gained thanks to CT (computerized tomography) will be of benefit to the primary and secondary prevention of cerebrovascular ischemias. (L.O.). 1 fig., 5 refs

  11. New clinical molecular diagnostic methods for congenital and inherited heart disease

    NARCIS (Netherlands)

    Jongbloed, Jan Dh; Pósafalvi, Anna; Kerstjens-Frederikse, Wilhelmina S.; Sinke, Richard J.; van Tintelen, J. Peter

    2011-01-01

    For patients with congenital and inherited heart disorders, causative mutations are often not identified owing to limitations of current screening techniques. Identifying the mutation is of major importance for genetic counseling of patients and families, facilitating the diagnosis in people at risk

  12. CT, MRI and MRA of cerebrovascular malformations (report of 16 cases)

    International Nuclear Information System (INIS)

    Ding Qingguo; Hu Chunhong; Guo Liang; Ding Yi

    2000-01-01

    Objective: To evaluate the value of CT, MRI and MRA in cerebrovascular malformations. Methods: 16 cases of cerebrovascular malformations were confirmed by angiography and pathology, including 12 cases of arteriovenous malformations, 4 cases of cavernous angiomas. All of these cases were performed with CT, MRI non-contrast scan and 3D-TOF MRA. Results: CT appearances of AVM were mixed density with hypo-density, iso-density or hyper-density. Some had calcification or acute hemorrhage. MRI scan showed the dilated and tortuous nidus of AVMs on T 1 WI and T 2 WI. The appearances of hemorrhage were variable. Feeding arteries and draining veins were showed clearly on MRA. The typical sign of cavernous angiomas was mixed signals with hypointensity ring on MRI, while MRA could not provide much information. Conclusions: CT, MRI and MRA had different value in diagnosis of cerebrovascular malformations. CT combined with MRI and MRA could sharply improve the accuracy of diagnosis, and aid in the comprehensive evaluation of cerebrovascular malformations

  13. SPECT and PET in cerebrovascular diseases. SPECT und PET bei cerebrovaskulaeren Erkrankungen

    Energy Technology Data Exchange (ETDEWEB)

    Knapp, W.H. (Herzzentrum Nordrhein-Westfalen, Bad Oeynhausen (Germany). Inst. fuer Nuklearmedizin)

    1993-02-01

    Investigations using recently emerged perfusion tracers for SPECT, Tc-99m-HMPAO in particular, and studies of local glucose metabolism and oxygen utilisation with PET have deepened our knowledge of the pathophysiology in development and in the sequel of stroke. Studies of local cerebral blood flow and cerebrovascular reserve capacity are indicated in case of neurological symptoms suspected to be caused by transient ischemic attacks or in case of significant narrowing of the cerebral arteries. PET investigations of local metabolism (at the present state) are indicated in patients with incompleted stroke or with infarction and extended ischemic border zone. The differential diagnosis between multi-infarct-dementia and primarily neurodegenerative dementias is facilitated, in some individuals, by the characteristic topography of reduced flow. (orig./MG).

  14. [Cerebrovascular mortality in Portugal: are we overemphasizing hypertension and neglecting atrial fibrillation?].

    Science.gov (United States)

    Providência, Rui; Gonçalves, Lino; Ferreira, Maria João

    2013-11-01

    Cerebrovascular disease has long been the leading cause of death in Portugal. Despite improvements in the treatment of hypertension and the resulting decrease in associated mortality, the progressive aging of the population and increased prevalence of atrial fibrillation have prevented the incidence of stroke from falling as much as desired. The authors review the evidence on the situation in Portugal and propose an intervention plan. Copyright © 2013 Sociedade Portuguesa de Cardiologia. Published by Elsevier España. All rights reserved.

  15. Positron emission tomography in cerebrovascular disease: The relationship between regional cerebral blood flow, blood volume and oxygen metabolism

    Energy Technology Data Exchange (ETDEWEB)

    Herold, S.

    1985-03-01

    Positron emission tomography in cerebrovascular disease has demonstrated the importance of the relationship between regional cerebral blood flow and the cerebral metabolic activity. In acute stroke it has been found that within the first hours after the onset of symptoms cerebral blood flow in the affected area is more depressed than cerebral oxygen utilisation. This relative preservation of oxygen utilisation results from an increase in the oxygen extraction ratio far above its normal value. However, the oxygen extraction fraction subsequently falls in the following days indicating the transition from a situation of possibly reversible ischaemia to irreversible infarction. In patients with carotid occlusive disease an increase in the oxygen extraction ratio has been observed only in very few cases. It has been shown, however, that at an earlier stage the relationship between CBF and CBV (as CBF/CBV-ratio) provides a sensitive measure of diminished perfusion pressure which could be helpful for the selection of patients for EC-IC bypass surgery. In patients with sickle cell anaemia it has been found that oxygen delivery to the brain is maintained by an increase in cerebral blood flow, whereas the oxygen extraction ratio is not increased despite the presence of a low oxygen affinity haemoglobin. Preliminary observations in classical migraine suggest an ischaemic situation during the attack.

  16. Depression, anxiety and major adverse cardiovascular and cerebrovascular events in patients following coronary artery bypass graft surgery

    DEFF Research Database (Denmark)

    Tully, Phillip J; Winefield, Helen R; Baker, Robert A

    2015-01-01

    anhedonia, anxious arousal and general distress/negative affect symptom dimensions. Incident MACCE was defined as fatal or non-fatal; myocardial infarction, unstable angina pectoris, repeat revascularization, heart failure, sustained arrhythmia, stroke or cerebrovascular accident, left ventricular failure......BACKGROUND: Although depression and anxiety have been implicated in risk for major adverse cardiovascular and cerebrovascular events (MACCE), a theoretical approach to identifying such putative links is lacking. The objective of this study was to examine the association between theoretical...... and mortality due to cardiac causes. Time-to-MACCE was determined by hazard modelling after adjustment for EuroSCORE, smoking, body mass index, hypertension, heart failure and peripheral vascular disease. RESULTS: In the total sample, there were 698 cumulative person years of survival for analysis with a median...

  17. Cerebrovascular reactivity (CVR) MRI with CO2 challenge: A technical review.

    Science.gov (United States)

    Liu, Peiying; B De Vis, Jill; Lu, Hanzhang

    2018-03-21

    Cerebrovascular reactivity (CVR) is an indicator of cerebrovascular reserve and provides important information about vascular health in a range of brain conditions and diseases. Unlike steady-state vascular parameters, such as cerebral blood flow (CBF) and cerebral blood volume (CBV), CVR measures the ability of cerebral vessels to dilate or constrict in response to challenges or maneuvers. Therefore, CVR mapping requires a physiological challenge while monitoring the corresponding hemodynamic changes in the brain. The present review primarily focuses on methods that use CO2 inhalation as a physiological challenge while monitoring changes in hemodynamic MRI signals. CO2 inhalation has been increasingly used in CVR mapping in recent literature due to its potency in causing vasodilation, rapid onset and cessation of the effect, as well as advances in MRI-compatible gas delivery apparatus. In this review, we first discuss the physiological basis of CVR mapping using CO2 inhalation. We then review the methodological aspects of CVR mapping, including gas delivery apparatus, the timing paradigm of the breathing challenge, the MRI imaging sequence, and data analysis. In addition, we review alternative approaches for CVR mapping that do not require CO2 inhalation. Copyright © 2018. Published by Elsevier Inc.

  18. Technetium-labeled HM-PAO studies in patients with cerebrovascular disease

    International Nuclear Information System (INIS)

    Smith, F.W.; Sharp, P.F.; Gemmell, H.; Evans, N.T.; MacDonald, A.F.

    1986-01-01

    Technetium-labeled hexamethyl-propyleneamineoxime (HM-PAO) is a promising radiopharmaceutical for the demonstration of cerebral blood flow. Twenty-four patients who had experienced either acute stroke (AS) or transient ischemic attack (TIA) were studied by x-ray CT and SPECT using technetium-labeled HM-PAO total of 26 studies. HM-PAO has a cerebral distribution similar to that of iodoamphetamine, but labeling with technetium allows good SPECT imaging on demand in any nuclear medicine department. In ten of the 16 patients who had experienced AS, findings on HM-PAO and CT studies correlated well. In six patients reduced cortical perfusion was detected on HM-PAO imaging, but only small infarcts in the internal capsule were seen on CT. In four of the eight patients who had experienced TIA, neither study revealed any abnormality. In the remaining four, areas of cortical underperfusion were seen on HM-PAO imaging, whereas the CT examination was normal. The findings in this study suggest that HM-PAO imaging is a more sensitive method for demonstrating the extent of cerebral underperfusion in cases of cerebrovascular accident

  19. Relationship of Aphasia and Topography of Cerebrovascular Territories

    Directory of Open Access Journals (Sweden)

    K. Ghandehari

    2004-10-01

    Full Text Available Aphasia is a common manifestation of stroke and evaluation of relationships of aphasia and brain topography could lead to better understanding of cognitive neurophysiology.Consecutive 100 stroke patients with aphasia admitted in Valie Asr hospital, Khorasan in 2003 enrulled in this prospective study. Diagnosis of stroke and aphasia was made by a neurolosist and topography of involved cerebrovascular territories confirmed by topographic maps of brain in CT scan. Global, Broca and Wernicke subtypes of aphasia constituted 52%, 40% and 6% of the cases respectively. Based on the usual nourishment of Broca and Wernicke areas by anterior and posterior cortical branches of the middle cerebral artery, 79% of Global, 47% of Broca and 50% of Wernicke aphasias had a compatible infarct topography. Other cases had no congruent infarct topography with involved linguistic area of their brain. Specific cerebrovascular topography for subtypes of aphasia in stroke patients was not found. The effects of cerebrovascular lesions on linguistic functions are not predictable by their topography in CT scan.

  20. [Mitochondria inheritance in yeast saccharomyces cerevisiae].

    Science.gov (United States)

    Fizikova, A Iu

    2011-01-01

    The review is devoted to the main mechanisms of mitochondria inheritance in yeast Saccharonmyces cerevisiae. The genetic mechanisms of functionally active mitochondria inheritance in eukaryotic cells is one of the most relevant in modem researches. A great number of genetic diseases are associated with mitochondria dysfunction. Plasticity of eukaryotic cell metabolism according to the environmental changes is ensured by adequate mitochondria functioning by means of ATP synthesis coordination, reactive oxygen species accumulation, apoptosis regulation and is an important factor of cell adaptation to stress. Mitochondria participation in important for cell vitality processes masters the presence of accurate mechanisms of mitochondria functions regulation according to environment fluctuations. The mechanisms of mitochondria division and distribution are highly conserved. Baker yeast S. cerevisiae is an ideal model object for mitochondria researches due to energetic metabolism lability, ability to switch over respiration to fermentation, and petite-positive phenotype. Correction of metabolism according to the environmental changes is necessary for cell vitality. The influence of respiratory, carbon, amino acid and phosphate metabolism on mitochondria functions was shown. As far as the mechanisms that stabilize functions of mitochondria and mtDNA are highly conserve, we can project yeast regularities on higher eukaryotes systems. This makes it possible to approximate understanding the etiology and pathogenesis of a great number of human diseases.

  1. Symptom profiles of subsyndromal depression in disease clusters of diabetes, excess weight, and progressive cerebrovascular conditions: a promising new type of finding from a reliable innovation to estimate exhaustively specified multiple indicators–multiple causes (MIMIC models

    Directory of Open Access Journals (Sweden)

    Francoeur RB

    2016-12-01

    Full Text Available Richard B Francoeur School of Social Work, Adelphi University, Garden City, NY, USA Abstract: Addressing subsyndromal depression in cerebrovascular conditions, diabetes, and obesity reduces morbidity and risk of major depression. However, depression may be masked because self-reported symptoms may not reveal dysphoric (sad mood. In this study, the first wave (2,812 elders from the New Haven Epidemiological Study of the Elderly (EPESE was used. These population-weighted data combined a stratified, systematic, clustered random sample from independent residences and a census of senior housing. Physical conditions included progressive cerebrovascular disease (CVD; hypertension, silent CVD, stroke, and vascular cognitive impairment [VCI] and co-occurring excess weight and/or diabetes. These conditions and interactions (clusters simultaneously predicted 20 depression items and a latent trait of depression in participants with subsyndromal (including subthreshold depression (11≤ Center for Epidemiologic Studies Depression Scale [CES-D] score ≤27. The option for maximum likelihood estimation with standard errors that are robust to non-normality and non-independence in complex random samples (MLR in Mplus and an innovation created by the author were used for estimating unbiased effects from latent trait models with exhaustive specification. Symptom profiles reveal masked depression in 1 older males, related to the metabolic syndrome (hypertension–overweight–diabetes; silent CVD–overweight; and silent CVD–diabetes and 2 older females or the full sample, related to several diabetes and/or overweight clusters that involve stroke or VCI. Several other disease clusters are equivocal regarding masked depression; a couple do emphasize dysphoric mood. Replicating findings could identify subgroups for cost-effective screening of subsyndromal depression. Keywords: depression, diabetes, overweight, cerebrovascular disease, hypertension, metabolic

  2. Genome-Wide Locations of Potential Epimutations Associated with Environmentally Induced Epigenetic Transgenerational Inheritance of Disease Using a Sequential Machine Learning Prediction Approach

    OpenAIRE

    Haque, M. Muksitul; Holder, Lawrence B.; Skinner, Michael K.

    2015-01-01

    Environmentally induced epigenetic transgenerational inheritance of disease and phenotypic variation involves germline transmitted epimutations. The primary epimutations identified involve altered differential DNA methylation regions (DMRs). Different environmental toxicants have been shown to promote exposure (i.e., toxicant) specific signatures of germline epimutations. Analysis of genomic features associated with these epimutations identified low-density CpG regions (

  3. Inherited Retinal Degenerative Disease Registry

    Science.gov (United States)

    2017-09-13

    Eye Diseases Hereditary; Retinal Disease; Achromatopsia; Bardet-Biedl Syndrome; Bassen-Kornzweig Syndrome; Batten Disease; Best Disease; Choroidal Dystrophy; Choroideremia; Cone Dystrophy; Cone-Rod Dystrophy; Congenital Stationary Night Blindness; Enhanced S-Cone Syndrome; Fundus Albipunctatus; Goldmann-Favre Syndrome; Gyrate Atrophy; Juvenile Macular Degeneration; Kearns-Sayre Syndrome; Leber Congenital Amaurosis; Refsum Syndrome; Retinitis Pigmentosa; Retinitis Punctata Albescens; Retinoschisis; Rod-Cone Dystrophy; Rod Dystrophy; Rod Monochromacy; Stargardt Disease; Usher Syndrome

  4. Inherited coagulation factor VII and X deficiencies associated with severe bleeding diathesis: Molecular genetics and pathophysiology

    NARCIS (Netherlands)

    Borensztajn, K.; Spek, C. A.

    2005-01-01

    The rare inherited coagulation disorders are a fascinating group of diseases that have provided us with important insights into the structure and functions of their respective deficient proteins. Factor (F)VII deficiency is the commonest of these inherited disorders of coagulation, whereas FX

  5. In-hospital cerebrovascular complications following orthotopic liver transplantation: A retrospective study

    Directory of Open Access Journals (Sweden)

    Liang Zhijian

    2008-12-01

    Full Text Available Abstract Background Cerebrovascular complications are severe events following orthotopic liver transplantation (OLT. This study aimed to observe the clinical and neuroimaging features and possible risk factors of in-hospital cerebrovascular complications in the patients who underwent OLT. Patients and methods We retrospectively reviewed 337 consecutive patients who underwent 358 OLTs. Cerebrovascular complications were determined by clinical and neuroimaging manifestations, and the possible risk factors were analyzed in the patients with intracranial hemorrhage. Results Ten of 337 (3.0% patients developed in-hospital cerebrovascular complications (8 cases experienced intracranial hemorrhage and 2 cases had cerebral infarction, and 6 of them died. The clinical presentations were similar to common stroke, but with rapid deterioration at early stage. The hematomas on brain CT scan were massive, irregular, multifocal and diffuse, and most of them were located at brain lobes and might enlarge or rebleed. Infarcts presented lacunar and multifocal lesions in basal gangliar but with possible hemorrhagic transformation. The patients with intracranial hemorrhage had older age and a more frequency of systemic infection than non-intracranial hemorrhage patients. (P = 0.011 and 0.029, respectively. Conclusion Posttransplant cerebrovascular complications have severe impact on outcome of the patients who received OLT. Older age and systemic infection may be the possible risk factors of in-hospital intracranial hemorrhage following OLT.

  6. Inheritable and sporadic non-autoimmune hyperthyroidism.

    Science.gov (United States)

    Ferraz, Carolina; Paschke, Ralf

    2017-03-01

    Hyperthyroidism is a clinical state that results from high thyroid hormone levels which has multiple etiologies, manifestations, and potential therapies. Excluding the autoimmune Graves disease, autonomic adenomas account for the most import cause of non-autoimmune hyperthyroidism. Activating germline mutations of the TSH receptor are rare etiologies for hyperthyroidism. They can be inherited in an autosomal dominant manner (familial or hereditary, FNAH), or may occur sporadically as a de novo condition, also called: persistent sporadic congenital non-autoimmune hyperthyroidism (PSNAH). These three conditions: autonomic adenoma, FNAH and PSNAH constitute the inheritable and sporadic non-autoimmune hyperthyroidism. Particularities in epidemiology, etiology, molecular and clinical aspects of these three entities will be discussed in this review in order to guide to an accurate diagnosis allowing among others genetic counseling and presymptomatic diagnosis for the affected families. The optimal treatment based on the right diagnosis will avoid consequences of a persistent or relapsing hyperthyroidism. Crown Copyright © 2017. Published by Elsevier Ltd. All rights reserved.

  7. Atypical mitochondrial inheritance patterns in eukaryotes.

    Science.gov (United States)

    Breton, Sophie; Stewart, Donald T

    2015-10-01

    Mitochondrial DNA (mtDNA) is predominantly maternally inherited in eukaryotes. Diverse molecular mechanisms underlying the phenomenon of strict maternal inheritance (SMI) of mtDNA have been described, but the evolutionary forces responsible for its predominance in eukaryotes remain to be elucidated. Exceptions to SMI have been reported in diverse eukaryotic taxa, leading to the prediction that several distinct molecular mechanisms controlling mtDNA transmission are present among the eukaryotes. We propose that these mechanisms will be better understood by studying the deviations from the predominating pattern of SMI. This minireview summarizes studies on eukaryote species with unusual or rare mitochondrial inheritance patterns, i.e., other than the predominant SMI pattern, such as maternal inheritance of stable heteroplasmy, paternal leakage of mtDNA, biparental and strictly paternal inheritance, and doubly uniparental inheritance of mtDNA. The potential genes and mechanisms involved in controlling mitochondrial inheritance in these organisms are discussed. The linkage between mitochondrial inheritance and sex determination is also discussed, given that the atypical systems of mtDNA inheritance examined in this minireview are frequently found in organisms with uncommon sexual systems such as gynodioecy, monoecy, or andromonoecy. The potential of deviations from SMI for facilitating a better understanding of a number of fundamental questions in biology, such as the evolution of mtDNA inheritance, the coevolution of nuclear and mitochondrial genomes, and, perhaps, the role of mitochondria in sex determination, is considerable.

  8. Risk of Cerebrovascular Accidents and Ischemic Heart Disease in Cutaneous Lupus Erythematosus: A Population-Based Cohort Study.

    Science.gov (United States)

    Singh, Abha G; Crowson, Cynthia S; Singh, Siddharth; Denis, Mark; Davis, P; Maradit-Kremers, Hilal; Matteson, Eric L; Chowdhary, Vaidehi R

    2016-11-01

    It is unclear whether isolated cutaneous lupus erythematosus (CLE) affects cardiovascular risk. We estimated the cumulative incidence and mortality of cardiovascular diseases in a population-based CLE cohort and compared the risk with a matched non-CLE cohort. All incident cases of CLE in Olmsted County, Minnesota, between 1965 and 2005 were followed until December 2013. The cumulative incidence of cerebrovascular accidents (CVAs [including stroke and transient ischemic attack]), ischemic heart disease (IHD [including coronary artery disease, myocardial infarction, and angina pectoris]), heart failure, and peripheral arterial disease (PAD) was derived and compared to an age-, sex-, and calendar year-matched non-CLE cohort using Cox models. There were 155 patients with CLE (mean ± SD age at diagnosis 48 ± 16 years, 65% female, mean ± SD BMI 26.3 ± 7.1 kg/m 2 , 40% smokers, 9% with diabetes mellitus). During a median followup of 14.6 years, 41 CLE patients had cardiovascular events (15 patients with CVAs, 32 patients with IHD), with a 20-year cumulative incidence of 31.6%. As compared to non-CLE subjects, the risk of CVAs (smoking-adjusted hazard ratio [HR] 2.97 [95% confidence interval (95% CI) 1.13-7.78]) and PAD (HR 2.06 [95% CI 0.99-4.32]) was increased in patients with CLE, but the risk of IHD was not increased (HR 0.94 [95% CI 0.57-1.54]). There was no increase in cardiovascular mortality (HR 1.68 [95% CI 0.76-3.75]). The magnitude of risk for any cardiovascular outcome was not significantly influenced by the extent of cutaneous involvement. CLE may be associated with an increased risk of CVAs and PAD, but not IHD. Factors contributing to increased CVA risk in patients with CLE merit evaluation. © 2016, American College of Rheumatology.

  9. Inherited and acquired immunodeficiencies underlying tuberculosis in childhood

    Science.gov (United States)

    Boisson-Dupuis, Stéphanie; Bustamante, Jacinta; El-Baghdadi, Jamila; Camcioglu, Yildiz; Parvaneh, Nima; Azbaoui, Safaa El; Agader, Aomar; Hassani, Amal; Hafidi, Naima El; Mrani, Nidal Alaoui; Jouhadi, Zineb; Ailal, Fatima; Najib, Jilali; Reisli, Ismail; Zamani, Adil; Yosunkaya, Sebnem; Gulle-Girit, Saniye; Yildiran, Alisan; Cipe, Funda Erol; Torun, Selda Hancerli; Metin, Ayse; Atikan, Basak Yildiz; Hatipoglu, Nevin; Aydogmus, Cigdem; Kilic, Sara Sebnem; Dogu, Figen; Karaca, Neslihan; Aksu, Guzide; Kutukculer, Necil; Keser-Emiroglu, Melike; Somer, Ayper; Tanir, Gonul; Aytekin, Caner; Adimi, Parisa; Mahdaviani, Seyed Alireza; Mamishi, Setareh; Bousfiha, Aziz; Sanal, Ozden; Mansouri, Davood; Casanova, Jean-Laurent; Abel, Laurent

    2015-01-01

    Summary Tuberculosis (TB), caused by Mycobacterium tuberculosis (M.tb) and a few related mycobacteria, is a devastating disease, killing more than a million individuals per year worldwide. However, its pathogenesis remains largely elusive, as only a small proportion of infected individuals develop clinical disease either during primary infection or during reactivation from latency or secondary infection. Subacute, hematogenous, and extrapulmonary disease tends to be more frequent in infants, children, and teenagers than in adults. Life-threatening primary TB of childhood can result from known acquired or inherited immunodeficiencies, although the vast majority of cases remain unexplained. We review here the conditions conferring a predisposition to childhood clinical diseases caused by mycobacteria, including not only M.tb but also weakly virulent mycobacteria, such as BCG vaccines and environmental mycobacteria. Infections with weakly virulent mycobacteria are much rarer than TB, but the inherited and acquired immunodeficiencies underlying these infections are much better known. Their study has also provided genetic and immunological insights into childhood TB, as illustrated by the discovery of single-gene inborn errors of IFN-γ immunity underlying severe cases of TB. Novel findings are expected from ongoing and future human genetic studies of childhood TB in countries that combine a high proportion of consanguineous marriages, a high incidence of TB, and an excellent clinical care, such as Iran, Morocco, and Turkey. PMID:25703555

  10. Resting State BOLD Variability in Alzheimer’s Disease: A Marker of Cognitive Decline or Cerebrovascular Status?

    Directory of Open Access Journals (Sweden)

    Vanessa Scarapicchia

    2018-02-01

    Full Text Available Background: Alzheimer’s disease (AD is a neurodegenerative disorder that may benefit from early diagnosis and intervention. Therefore, there is a need to identify early biomarkers of AD using non-invasive techniques such as functional magnetic resonance imaging (fMRI. Recently, novel approaches to the analysis of resting-state fMRI data have been developed that focus on the moment-to-moment variability in the blood oxygen level dependent (BOLD signal. The objective of the current study was to investigate BOLD variability as a novel early biomarker of AD and its associated psychophysiological correlates.Method: Data were obtained from the Alzheimer’s Disease Neuroimaging Initiative (ADNI 2 database from 19 participants with AD and 19 similarly aged controls. For each participant, a map of BOLD signal variability (SDBOLD was computed as the standard deviation of the BOLD timeseries at each voxel. Group comparisons were performed to examine global differences in resting state SDBOLD in AD versus healthy controls. Correlations were then examined between participant SDBOLD maps and (1 ADNI-derived composite scores of memory and executive function and (2 neuroimaging markers of cerebrovascular status.Results: Between-group comparisons revealed significant (p < 0.05 increases in SDBOLD in patients with AD relative to healthy controls in right-lateralized frontal regions. Lower memory scores and higher WMH burden were associated with greater SDBOLD in the healthy control group (p < 0.1, but not individuals with AD.Conclusion: The current study provides proof of concept of a novel resting state fMRI analysis technique that is non-invasive, easily accessible, and clinically compatible. To further explore the potential of SDBOLD as a biomarker of AD, additional studies in larger, longitudinal samples are needed to better understand the changes in SDBOLD that characterize earlier stages of disease progression and their underlying psychophysiological

  11. The RNAi Inheritance Machinery of Caenorhabditis elegans.

    Science.gov (United States)

    Spracklin, George; Fields, Brandon; Wan, Gang; Becker, Diveena; Wallig, Ashley; Shukla, Aditi; Kennedy, Scott

    2017-07-01

    Gene silencing mediated by dsRNA (RNAi) can persist for multiple generations in Caenorhabditis elegans (termed RNAi inheritance). Here we describe the results of a forward genetic screen in C. elegans that has identified six factors required for RNAi inheritance: GLH-1/VASA, PUP-1/CDE-1, MORC-1, SET-32, and two novel nematode-specific factors that we term here (heritable RNAi defective) HRDE-2 and HRDE-4 The new RNAi inheritance factors exhibit mortal germline (Mrt) phenotypes, which we show is likely caused by epigenetic deregulation in germ cells. We also show that HRDE-2 contributes to RNAi inheritance by facilitating the binding of small RNAs to the inheritance Argonaute (Ago) HRDE-1 Together, our results identify additional components of the RNAi inheritance machinery whose conservation provides insights into the molecular mechanism of RNAi inheritance, further our understanding of how the RNAi inheritance machinery promotes germline immortality, and show that HRDE-2 couples the inheritance Ago HRDE-1 with the small RNAs it needs to direct RNAi inheritance and germline immortality. Copyright © 2017 by the Genetics Society of America.

  12. Safe Dynamic Multiple Inheritance

    DEFF Research Database (Denmark)

    Ernst, Erik

    2002-01-01

    Multiple inheritance and similar mechanisms are usually only supported at compile time in statically typed languages. Nevertheless, dynamic multiple inheritance would be very useful in the development of complex systems, because it allows the creation of many related classes without an explosion...... in the size and level of redundancy in the source code. In fact, dynamic multiple inheritance is already available. The language gbeta is statically typed and has supported run-time combination of classes and methods since 1997, by means of the combination operator '&'. However, with certain combinations...

  13. Transcranial Doppler, MRA, and MRI as a screening examination for cerebrovascular disease in patients with sickle cell anemia: an 8-year study

    Energy Technology Data Exchange (ETDEWEB)

    Seibert, J.J.; Glasier, C.M.; Allison, J.W.; James, C.A.; Kinder, D.L.; Cox, K.S.; Lairry, F.; Graves, R.A. [Arkansas Children`s Hospital, Little Rock, AR (United States). Dept. of Radiology; Kirby, R.S.; Flick, E.L. [Center for Ambulatory Research, Univ. of Arkansas for Medical Sciences, Little Rock, AR (United States); Becton, D.L.; Jackson, F.J. [Dept. of Hematology, Univ. of Arkansas for Medical Sciences, Little Rock, AR (United States)

    1998-03-01

    Objective. The authors previously reported five transcranial Doppler ultrasonography (TCD) findings as significant in detecting clinical cerebrovascular disease in a 4-year study in patients with sickle cell disease. This is a follow-up to evaluate the validity of the original findings over another 4-year period during which the study population doubled. A clinical follow-up of the original asymptomatic sickle cell patients with positive TCD, MRA, and MRI was also made. Results. Of the 4 out of original 46 control patients in 1992 who had positive MRA and TCD, 3 have subsequently had clinical stroke. None of the 9 original patients with positive TCD and positive MRI but negative MRA have developed stroke. All five original TCD indicators of disease were still significant (P<0.05) for detecting clinical disease: maximum velocity in ophthalmic artery (OA)>35 cm/s, mean velocity in middle cerebral artery (MCA) >170 cm/s, resistive index (RI) in OA<50, velocity in OA greater than in MCA, and velocity in posterior cerebral (PCA), vertebral, or basilar arteries greater than in MCA. Four additional factors were also significant: turbulence, PCA or ACA without MCA, RI<30, and maximum velocity in MCA>200 cm/s. (orig.)

  14. Dichotic auditory-verbal memory in adults with cerebro-vascular accident

    Directory of Open Access Journals (Sweden)

    Samaneh Yekta

    2014-01-01

    Full Text Available Background and Aim: Cerebrovascular accident is a neurological disorder involves central nervous system. Studies have shown that it affects the outputs of behavioral auditory tests such as dichotic auditory verbal memory test. The purpose of this study was to compare this memory test results between patients with cerebrovascular accident and normal subjects.Methods: This cross-sectional study was conducted on 20 patients with cerebrovascular accident aged 50-70 years and 20 controls matched for age and gender in Emam Khomeini Hospital, Tehran, Iran. Dichotic auditory verbal memory test was performed on each subject.Results: The mean score in the two groups was significantly different (p<0.0001. The results indicated that the right-ear score was significantly greater than the left-ear score in normal subjects (p<0.0001 and in patients with right hemisphere lesion (p<0.0001. The right-ear and left-ear scores were not significantly different in patients with left hemisphere lesion (p=0.0860.Conclusion: Among other methods, Dichotic auditory verbal memory test is a beneficial test in assessing the central auditory nervous system of patients with cerebrovascular accident. It seems that it is sensitive to the damages occur following temporal lobe strokes.

  15. Investigation of cerebral iron deposition in aged patients with ischemic cerebrovascular disease using susceptibility-weighted imaging

    Directory of Open Access Journals (Sweden)

    Liu Y

    2016-08-01

    Full Text Available Yin Liu, Jun Liu, Huanghui Liu, Yunjie Liao, Lu Cao, Bin Ye, Wei Wang Department of Radiology, The Third Xiangya Hospital, Central South University, Changsha, Hunan, People’s Republic of China Objective: The aim of this study was to investigate focal iron deposition level in the brain in patients with ischemic cerebrovascular disease and its correlation with cerebral small vessel disease imaging markers.Patients and methods: Seventy-four patients with first-ever transient ischemic attack (median age: 69 years; 30 males and 44 females and 77 patients with positive ischemic stroke history (median age: 72 years; 43 males and 34 females were studied retrospectively. On phase image of susceptibility-weighted imaging and regions of interest were manually drawn at the bilateral head of the caudate nucleus, lenticular nucleus (LN, thalamus (TH, frontal white matter, and occipital white matter. The correlation between iron deposition level and the clinical and imaging variables was also investigated.Results: Iron deposition level at LN was significantly higher in patients with previous stroke history. It linearly correlated with the presence and number of cerebral microbleeds (CMBs but not with white matter hyperintensity and lacunar infarct. Multiple linear regression analysis showed that deep structure CMBs were the most relevant in terms of iron deposition at LN.Conclusion: Iron deposition at LN may increase in cases of more severe ischemia in aged patients with transient ischemic attack, and it may be an imaging marker for CMB of ischemic origin. Keywords: cerebral microbleed, ischemia, susceptibility-weighted imaging, iron, lenticular nucleus

  16. Mild cognitive impairment in symptomatic and asymptomatic cerebrovascular disease.

    Science.gov (United States)

    Popović, Irena Martinić; Serić, Vesna; Demarin, Vida

    2007-06-15

    We tried to evaluate and to compare usefulness of two brief cognitive tests in early detection of cognitive decline in subjects with increased cerebrovascular (CV) risk. As CV risk factors are recognised as important in etiology of dementia, we also aimed to determine the possible associations of specific CV risk factors and cognitive results. Patients (PGs) with first-ever stroke or TIA (N=110) and CV symptoms-free controls (CGs) with CV risk factors present (N=45) matched for age, gender and education level were tested using Mini-Mental State Examination (MMSE) and Montreal Cognitive Assessment (MoCA) on admission, at three- and six-month points. In all subjects, detailed CV risk factors profile was assessed. We observed the decrement in cognitive performance during the six-month study period in both groups, more evident if MoCA (pdecrement and multiple CV risk factors (>2) were found (p=0.034 for MMSE; p=0.002 for MoCA). In CGs, positive associations were found for cognitive decrement and arterial hypertension with increased IMT values (pmultiple CV risk factors and arterial hypertension (p=0.003 for MoCA). The use of MoCA could aid to early recognition of cognitive deficits in persons with increased CV risk. Individuals with multiple CV risk factors seem to have increased risk of cognitive decline.

  17. Inherited and Acquired Muscle Weakness: A Moving Target for Diagnostic Muscle Biopsy.

    Science.gov (United States)

    Stenzel, Werner; Schoser, Benedikt

    2017-08-01

    Inherited and acquired muscular weakness is caused by multiple conditions. While the inherited ones are mostly caused by mutations in genes coding for myopathic or neurogenic diseases, the acquired ones occur due to inflammatory, endocrine, or toxic etiologies. Precise diagnosis of a specific disease may be challenging and may require a multidisciplinary approach. What is the current place for a diagnostic biopsy of skeletal muscle? Diagnostic muscle biopsy lost in this context its first-tier place in the primary diagnostic workup for some diseases, but it is still mandatory for others. We here summarize conditions in which we believe a diagnostic sample is most relevant and mention those in which a biopsy may be secondary or can even be left out. We would like to stress that muscle biopsy nowadays has a new important place in description and definition of new diseases, for example, discovered by modern genetic approaches. Georg Thieme Verlag KG Stuttgart, New York.

  18. Cerebrovascular and hypertensive diseases as multiple causes of death in Brazil from 2004 to 2013.

    Science.gov (United States)

    Villela, P B; Klein, C H; Oliveira, G M M

    2018-06-02

    The proportion of deaths attributed to hypertensive diseases (HYPDs) was only 50% of that registered for cerebrovascular diseases (CBVDs) in 2013 in Brazil. This article aims to evaluate mortality related to HYPDs and CBVDs as multiple causes of death, in Brazil from 2004 to 2013. Analysis of historical series of secondary data obtained from Brazilian official registries. Data about the deaths were obtained from the Mortality Information System of the Brazilian Ministry of Health, available on the DATASUS website. CBVDs and HYPDs were evaluated according to their mentions as the underlying cause of death or entry in any line of the death certificates (DCs), according to their International Statistical Classification of Diseases and Related Health Problems, 10th Revision codes. When CBVDs were the underlying causes of death, HYPDs were mentioned in 40.9% of the DCs. When HYPDs were the underlying causes of death, CBVDs were mentioned in only 5.0%. When CBVDs were mentioned without HYPDs, they were selected as the underlying cause of death 74.4% of the time. When HYPDs were mentioned in DCs without CBVDs, HYPDs were selected 30.0% of the time. In 2004, the frequency of any mention of HYPDs relative to the frequency of HYPDs cited as underlying causes increased fourfold and was followed by a plateau until 2013. In contrast, the frequency of any mention of CBVDs relative to the frequency of CBVDs as underlying causes decreased in the same period. Because this study was based on DC records, it was limited by the way these documents were completed, which may have included lack of record of the causes related to the sequence that culminated in death. When deaths related to HYPDs were evaluated as multiple causes of death, they were mentioned up to four times more often than when they were selected as underlying causes of death. This reinforces the need for better control of hypertension to prevent deaths. Copyright © 2018 The Royal Society for Public Health. Published by

  19. Oxidative stress upregulates the NMDA receptor on cerebrovascular endothelium.

    Science.gov (United States)

    Betzen, Christian; White, Robin; Zehendner, Christoph M; Pietrowski, Eweline; Bender, Bianca; Luhmann, Heiko J; Kuhlmann, Christoph R W

    2009-10-15

    N-methyl-d-aspartate receptor (NMDA-R)-mediated oxidative stress has been implicated in blood-brain barrier (BBB) disruption in a variety of neuropathological diseases. Although some interactions between both phenomena have been elucidated, possible influences of reactive oxygen species (ROS) on the NMDA-R itself have so far been neglected. The objective of this study was to examine how the cerebroendothelial NMDA-R is affected by exposure to oxidative stress and to assess possible influences on BBB integrity. RT-PCR confirmed several NMDA-R subunits (NR1, NR2B-D) expressed in the bEnd3 cell line (murine cerebrovascular endothelial cells). NR1 protein expression after exposure to ROS was observed via in-cell Western. The functionality of the expressed NMDA-R was determined by measuring DiBAC fluorescence in ROS-preexposed cells upon stimulation with the specific agonist NMDA. Finally, the effects on barrier integrity were evaluated using the ECIS system to detect changes in monolayer impedance upon NMDA-R stimulation after exposure to ROS. The expression of NR1 significantly (p<0.001) increased 72 h after 30 min exposure to superoxide (+33.8+/-7.5%), peroxynitrite (+84.9+/-10.7%), or hydrogen peroxide (+92.8+/-7.6%), resulting in increased cellular response to NMDA-R stimulation and diminished monolayer impedance. We conclude that oxidative stress upregulates NMDA-R on cerebrovascular endothelium and thus heightens susceptibility to glutamate-induced BBB disruption.

  20. The diagnostic value of 13N-ammonia PET in ischemic cerebrovascular disorders

    International Nuclear Information System (INIS)

    Qiao Shuixian; Tang Anwu; Wang Lijuan; Liu Xintong; Yuan Yanbo; Chen Liguang; Luo Yaowu; Zhang Xiangsong; Wang Shuxia; Liu Bin; Xu Weiping

    2002-01-01

    Objective: To evaluate the feasibility of 13 N-ammonia PET in diagnosing ischemic cerebrovascular disorders. Methods: A total of 25 subjects were investigated. Five healthy volunteers served as normal control. Twenty patients included 13 with transient ischemic attack (TIA), 6 with brain infarction and 1 with moyamoya disease. 740-925 MBq of 13 N-ammonia was injected intravenously, 3-5 min later, PET imaging was performed with T + E 2D acquisition with Siemens ECAT EXACT HR + PET scanner. Image analysis was done by visual and semiquantitative estimating. Standardized uptake value (SUV) was measured in mirror regions of cerebrum with autocopy methods. Nine patients underwent drug stress with oral acetazolamide (ACZ). Images were compared before and after oral ACZ intervention. Results: Physiological brain uptake with SUV ratio of 0.99 +- 0.15 (n=5, left/right) was observed in healthy volunteers. L/N 13 N-ammonia as radioactive tracer was a safe and noninvasive, sensitive and accurate functional imaging modality for brain perfusion. The oral ACZ stress is a safe, simple and reliable diagnostic method for ischemic cerebrovascular disorders. It is of important uses in detecting the potential reserve of cerebral blood flow

  1. Revisión actualizada sobre enfermedad cerebrovascular: estudio de un caso

    OpenAIRE

    Bardají Fandos, Teodosia

    2003-01-01

    La enfermedad cerebrovascular (ECV), también denominada accidente cerebrovascular (ACV)o ictus, representa el 90% de las enfermedades neurológicas y constituye la tercera causa de muerte en la mayoría de los países desarrollados; en España representa la primera causa de muerte en mujeres de 75 años o más de edad.

  2. [Small vessel cerebrovascular disease].

    Science.gov (United States)

    Cardona Portela, P; Escrig Avellaneda, A

    2018-05-09

    Small vessel vascular disease is a spectrum of different conditions that includes lacunar infarction, alteration of deep white matter, or microbleeds. Hypertension is the main risk factor, although the atherothrombotic lesion may be present, particularly in large-sized lacunar infarctions along with other vascular risk factors. MRI findings are characteristic and the lesions authentic biomarkers that allow differentiating the value of risk factors and defining their prognostic value. Copyright © 2018 SEH-LELHA. Publicado por Elsevier España, S.L.U. All rights reserved.

  3. Evaluation of high-pitch dual-source CT angiography for evaluation of coronary and carotid-cerebrovascular arteries

    Energy Technology Data Exchange (ETDEWEB)

    Sun, Kai [Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing 100053 (China); Li, Kuncheng, E-mail: cjr.likuncheng@vip.163.com [Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing 100053 (China); Han, Ruijuan [Department of Cardiology, Chaoyang Hospital, Capital Medical University, Beijing 100020 (China); Li, Wenhuan; Chen, Nan; Yang, Qi; Du, Xiangying; Wang, Chen [Department of Radiology, Xuanwu Hospital, Capital Medical University, Beijing 100053 (China); Liu, Guorong; Li, Yuechun [Department of Neurology Baotou Central Hospital, Inner Mongolia, Baotou 014040 (China); Zhou, Maorong [Department of Radiology, Baotou Central Hospital, Inner Mongolia, Baotou 014040 (China); Li, Ligang; Heidrun, Endt [CT BM Clinic Marketing, Siemens Healthcare, Beijing 100102 (China)

    2015-03-15

    Objectives: To explore the feasibility and diagnostic accuracy of a combined one-step high-pitch dual-source computed tomography angiography (CTA) technique for evaluation of coronary and carotid-cerebrovascular arteries. Materials and methods: 85 symptomatic patients suspected of coronary artery and cerebrovascular disease referred for simultaneous coronary and carotid-cerebrovascular CTA were included. Additional invasive angiography of the coronary and cerebral arteries was performed within 30 days in 23 and 13 patients, respectively. The objective parameters of image quality, the mean CT attenuations, image noise, signal-to-noise ratio (SNR), and contrast-to-noise ratio (CNR) were evaluated. The subjective image quality of vessels was also assessed by 2 independent radiologists blinded to the patients’ medical history and scan protocols. The diagnostic performance of CTA including sensitivity, specificity, positive predictive value (PPV) and negative predictive value (NPV) for the detection or exclusion of significant artery stenosis was calculated using the chi-squared test of contingency and correlated with the results of invasive angiography representing the standard of reference. Results: Image quality was rated excellent (score 1) in 95.3% (1074/1127), good (score 2) in 3.3% (37/1127), adequate (score 3) in 1.0% (11/1127), and non-diagnostic (score 4) in 0.4% (5/1127) of coronary segments. Image quality of carotid and cerebral vessels was rated mostly excellent (score 1, 95.12% [78/82]; score 2, 3.66% [3/82]; score 3, 1.22% [1/82]). The sensitivity, specificity, PPV and NPV for the detection of coronary stenosis were 92.2% (81.1–97.7%), 95.2% (91.7–97.5%), 79.6% (67.1–89.1%) and 98.3% (95.8–99.5%), respectively. For the detection of carotid and cerebral artery stenosis, CTA demonstrated a sensitivity of 92.8% (80.5–98.4%), a specificity of 93.5% (88.3–96.8%), a PPV of 79.6% (65.6–89.7%) and a NPV of 97.9% (94.1–99.5%). The effective

  4. Inheritance is Specialisation

    DEFF Research Database (Denmark)

    Torgersen, Mads

    2002-01-01

    How can we get a simpler but much more general subclass construct? This position paper takes a "specialisationist" approach to inheritance. Old SIMULA virtues are restored to prominence, but boiled with new unificational ingredients to obtain a substrate of specialisation. Ever since the advent...... of Smalltalk there has been a strong tension in the object-oriented community between two opposing views of the role of inheritance: as an incremental modification mechanism or as a vehicle for conceptual modelling. Madsen [5] and many others characterise the two approaches as the “American ” and “Scandinavian......” schools, respectively. Nowadays, such a geographical terminology hardly remains valid (if ever it was), but the tension remains: should we strive for maximal flexibility of inheritance, to improve the possibilities for later unanticipated reuse, or should we attend above all to the conceptual integrity...

  5. The nuclear receptor PPARγ as a therapeutic target for cerebrovascular and brain dysfunction in Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Nektaria Nicolakakis

    2010-05-01

    Full Text Available Peroxisome proliferator-activated receptors (PPARs are ligand-activated nuclear transcription factors that regulate peripheral lipid and glucose metabolism. Three subtypes make up the PPAR family (α, γ, β/δ, and synthetic ligands for PPARα (fibrates and PPARγ (Thiazolidinediones, TZDs are currently prescribed for the respective management of dyslipidemia and type 2 diabetes. In contrast to the well characterized action of PPARs in the periphery, little was known about the presence or function of these receptors in the brain and cerebral vasculature, until fairly recently. Indeed, research in the last decade has uncovered these receptors in most brain cell types, and has shown that their activation, particularly that of PPARγ, is implicated in normal brain and cerebrovascular physiology, and confers protection under pathological conditions. Notably, accumulating evidence has highlighted the therapeutic potential of PPARγ ligands in the treatment of brain disorders such as Alzheimer’s disease (AD, leading to the testing of the TZDs pioglitazone and rosiglitazone in AD clinical trials. This review will focus on the benefits of PPARγ agonists for vascular, neuronal and glial networks, and assess the value of these compounds as future AD therapeutics in light of evidence from transgenic mouse models and recent clinical trials.

  6. Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein.

    Science.gov (United States)

    Asante, Emmanuel A; Linehan, Jacqueline M; Smidak, Michelle; Tomlinson, Andrew; Grimshaw, Andrew; Jeelani, Asif; Jakubcova, Tatiana; Hamdan, Shyma; Powell, Caroline; Brandner, Sebastian; Wadsworth, Jonathan D F; Collinge, John

    2013-01-01

    Prions are infectious agents causing fatal neurodegenerative diseases of humans and animals. In humans, these have sporadic, acquired and inherited aetiologies. The inherited prion diseases are caused by one of over 30 coding mutations in the human prion protein (PrP) gene (PRNP) and many of these generate infectious prions as evidenced by their experimental transmissibility by inoculation to laboratory animals. However, some, and in particular an extensively studied type of Gerstmann-Sträussler-Scheinker syndrome (GSS) caused by a PRNP A117V mutation, are thought not to generate infectious prions and instead constitute prion proteinopathies with a quite distinct pathogenetic mechanism. Multiple attempts to transmit A117V GSS have been unsuccessful and typical protease-resistant PrP (PrP(Sc)), pathognomonic of prion disease, is not detected in brain. Pathogenesis is instead attributed to production of an aberrant topological form of PrP, C-terminal transmembrane PrP ((Ctm)PrP). Barriers to transmission of prion strains from one species to another appear to relate to structural compatibility of PrP in host and inoculum and we have therefore produced transgenic mice expressing human 117V PrP. We found that brain tissue from GSS A117V patients did transmit disease to these mice and both the neuropathological features of prion disease and presence of PrP(Sc) was demonstrated in the brains of recipient transgenic mice. This PrP(Sc) rapidly degraded during laboratory analysis, suggesting that the difficulty in its detection in patients with GSS A117V could relate to post-mortem proteolysis. We conclude that GSS A117V is indeed a prion disease although the relative contributions of (Ctm)PrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established.

  7. Inherited prion disease A117V is not simply a proteinopathy but produces prions transmissible to transgenic mice expressing homologous prion protein.

    Directory of Open Access Journals (Sweden)

    Emmanuel A Asante

    Full Text Available Prions are infectious agents causing fatal neurodegenerative diseases of humans and animals. In humans, these have sporadic, acquired and inherited aetiologies. The inherited prion diseases are caused by one of over 30 coding mutations in the human prion protein (PrP gene (PRNP and many of these generate infectious prions as evidenced by their experimental transmissibility by inoculation to laboratory animals. However, some, and in particular an extensively studied type of Gerstmann-Sträussler-Scheinker syndrome (GSS caused by a PRNP A117V mutation, are thought not to generate infectious prions and instead constitute prion proteinopathies with a quite distinct pathogenetic mechanism. Multiple attempts to transmit A117V GSS have been unsuccessful and typical protease-resistant PrP (PrP(Sc, pathognomonic of prion disease, is not detected in brain. Pathogenesis is instead attributed to production of an aberrant topological form of PrP, C-terminal transmembrane PrP ((CtmPrP. Barriers to transmission of prion strains from one species to another appear to relate to structural compatibility of PrP in host and inoculum and we have therefore produced transgenic mice expressing human 117V PrP. We found that brain tissue from GSS A117V patients did transmit disease to these mice and both the neuropathological features of prion disease and presence of PrP(Sc was demonstrated in the brains of recipient transgenic mice. This PrP(Sc rapidly degraded during laboratory analysis, suggesting that the difficulty in its detection in patients with GSS A117V could relate to post-mortem proteolysis. We conclude that GSS A117V is indeed a prion disease although the relative contributions of (CtmPrP and prion propagation in neurodegeneration and their pathogenetic interaction remains to be established.

  8. Asymptomatic cerebrovascular lesions detected by magnetic resonance imaging in patients with systemic lupus erythematosus lacking a history of neuropsychiatric events

    Energy Technology Data Exchange (ETDEWEB)

    Nomura, Kumiko; Yamano, Shigeru; Ikeda, Yukiko [Nara Medical Univ., Kashihara (Japan)] (and others)

    1999-10-01

    To clarify the extent of asymptomatic cerebrovascular involvement in systemic lupus erythematosus (SLE). Cerebral magnetic resonance imaging (MRI) findings and ultrasonography findings of 100 patients with SLE lacking present or past clinical neurologic deficits were compared with 66 age-matched volunteers to determine the combined intima-media thickness (IMT) of the common carotid artery, and tests for anti-cardiolipin antibodies (aCL). Thirty-eight patients, but only 2 controls, showed imaging abnormalities. Among 23 SLE patients with cerebrovascular lesions by MRI who underwent single-photon emission computed tomography (SPECT), 14 showed hypoperfusion of the lesion. The IMT value and prevalence of aCL did not differ between the 55 SLE patients tested and controls. SLE disease activity index (SLEDAI) as assessed by a quantitative clinical index was significantly greater in patients with brain lesions than in those without. The prevalence of asymptomatic brain lesions in SLE patients is high, and shows a relationship to disease activity. (author)

  9. Evaluation of surgical treatment using N-isopropyl p[123I]iodoamphetamine and ringed gamma camera single photon computed tomography in patients with cerebrovascular disease

    International Nuclear Information System (INIS)

    Oshibuchi, Masao; Sato, Mitsutaka; Muramoto, Masato; Kim, I.; Ohtake, Hisashi.

    1988-01-01

    The evaluation of surgical treatment via N-isopropyl-p-[ 123 I]iodoamphetamine( 123 I-IMP) and a ringtyped SPECT instrument on 25 patients undergoing operation for the treatment of cerebrovascular disease was analyzed using 50 test results obtained by means of 123 IMP SPECT. The difference between a ratio of count on the healthy side to that on the diseased side measured before operation and that measured after operation was found to be over 3.8 % in patients showing the improvement of clinical symptoms and below 1.6 % in patients showing no improvement. Among patients undergoing to removal of hematoma, the difference was calculated to be over 10 % when clinical symptoms were improved, and to be minus figures when no improvement was attained. The method employed in this study was confirmed to be useful because it is easy to perform in a non-invasive way, and numerically expresses the state of patients before and after operation. (author)

  10. Clinical study on magnetic resonance imaging of lacunar infarcts and cerebrovascular high-risk group

    Energy Technology Data Exchange (ETDEWEB)

    Hironaka, Masatoshi (Hiroshima Univ. (Japan). School of Medicine)

    1990-04-01

    Magnetic resonance imaging (MRI) study was performed in 32 patients with recent lacunar stroke. T2-weighted images showed ischemic lesions more clearly than T1-weighted images. Sixty-six percent of 32 patients had periventricular lesions. Eighty-four percent had subcortical white matter lesions. Sixty-nine percent had lesions in basal ganglia. Twenty-eight percent had lesions in brainstem. Periventricular lesions were revealed symmetrically. On the other hand, lesions in other areas were not detected symmetrically. Severe periventricular lesions on MRI were similar to those of Binswanger's disease. Patients with severe periventricular lesions had often hypertension. Moreover, two of them had dementia. Twenty-three patients with transient ischemic attack had less remarkable lesions than patients with lacunar stroke. Thirty-seven patients with a history of cerebrovascular risk factors (hypertension, diabetes mellitus) had severer lesions compared with normal controls. Sixty-one percent of controls, who had no cerebrovascular symptoms and signs, had MRI lesions. These results suggest that MRI is useful for detection of cerebral ischemic lesions with no associated clinical symptoms or signs. (author).

  11. Inheritance and heritability of resistance to citrus leprosis.

    Science.gov (United States)

    Bastianel, Marinês; de Oliveira, Antonio Carlos; Cristofani, Mariângela; Filho, Oliveiro Guerreiro; Freitas-Astúa, Juliana; Rodrigues, Vandeclei; Astúa-Monge, Gustavo; Machado, Marcos Antônio

    2006-10-01

    ABSTRACT The genetic inheritance of resistance to leprosis, the most important viral disease of citrus in Brazil, was characterized through the phenotypic assessment of 143 hybrids resulting from crosses between tangor 'Murcott' (Citrus sinensis x C. reticulata) and sweet orange 'Pêra' (C. sinensis), considered to be resistant and susceptible to the disease, respectively. All plants were grafted onto Rangpur lime (C. limonia) and inoculated with Citrus leprosis virus, cytoplasmic type through the infestation with viruliferous mites, Brevipalpus phoenicis. The experiments were arranged in a completely randomized block design with 10 replicates. Incidence and severity of the disease in leaves and stems as well as plant growth parameters (plant height and stem diameter) were recorded for 3 years after the infestation with the viruliferous mites. The average values of all variables were analyzed using principal component analysis, discriminant factorial analysis, estimation of the clonal repeatability coefficients, and frequency of the distributions of the average values for each measured variable. The principal component analysis resulted in the identification of at least two groups with resistance and susceptibility to leprosis, respectively. About 99% of all hybrids were correctly classified according to the discriminant factorial analysis. The broad-sense heritability coefficients for characteristics associated with incidence and severity of leprosis ranged from 0.88 to 0.96. The data suggest that the inheritance of resistance to leprosis may be controlled by only a few genes.

  12. [Application of next-generation semiconductor sequencing technologies in genetic diagnosis of inherited cardiomyopathies].

    Science.gov (United States)

    Zhao, Yue; Zhang, Hong; Xia, Xue-shan

    2015-07-01

    Inherited cardiomyopathy is the most common hereditary cardiac disease. It also causes a significant proportion of sudden cardiac deaths in young adults and athletes. So far, approximately one hundred genes have been reported to be involved in cardiomyopathies through different mechanisms. Therefore, the identification of the genetic basis and disease mechanisms of cardiomyopathies are important for establishing a clinical diagnosis and genetic testing. Next-generation semiconductor sequencing (NGSS) technology platform is a high-throughput sequencer capable of analyzing clinically derived genomes with high productivity, sensitivity and specificity. It was launched in 2010 by Life Technologies of USA, and it is based on a high density semiconductor chip, which was covered with tens of thousands of wells. NGSS has been successfully used in candidate gene mutation screening to identify hereditary disease. In this review, we summarize these genetic variations, challenge and application of NGSS in inherited cardiomyopathy, and its value in disease diagnosis, prevention and treatment.

  13. Cognitive patterns in relation to biomarkers of cerebrovascular disease and vascular risk factors.

    Science.gov (United States)

    Miralbell, Júlia; López-Cancio, Elena; López-Oloriz, Jorge; Arenillas, Juan Francisco; Barrios, Maite; Soriano-Raya, Juan José; Galán, Amparo; Cáceres, Cynthia; Alzamora, Maite; Pera, Guillem; Toran, Pere; Dávalos, Antoni; Mataró, Maria

    2013-01-01

    Risk factors for vascular cognitive impairment (VCI) are the same as traditional risk factors for cerebrovascular disease (CVD). Early identification of subjects at higher risk of VCI is important for the development of effective preventive strategies. In addition to traditional vascular risk factors (VRF), circulating biomarkers have emerged as potential tools for early diagnoses, as they could provide in vivo measures of the underlying pathophysiology. While VRF have been consistently linked to a VCI profile (i.e., deficits in executive functions and processing speed), the cognitive correlates of CVD biomarkers remain unclear. In this population-based study, the aim was to study and compare cognitive patterns in relation to VRF and circulating biomarkers of CVD. The Barcelona-AsIA Neuropsychology Study included 747 subjects older than 50, without a prior history of stroke or coronary disease and with a moderate to high vascular risk (mean age, 66 years; 34.1% women). Three cognitive domains were derived from factoral analysis: visuospatial skills/speed, verbal memory and verbal fluency. Multiple linear regression was used to assess relationships between cognitive performance (multiple domains) and a panel of circulating biomarkers, including indicators of inflammation, C-reactive protein (CRP) and resistin, endothelial dysfunction, asymmetric dimethylarginine (ADMA), thrombosis, plasminogen activator inhibitor 1 (PAI-1), as well as traditional VRF, metabolic syndrome and insulin resistance (homeostatic model assessment for insulin resistance index). Analyses were adjusted for age, gender, years of education and depressive symptoms. Traditional VRF were related to lower performance in verbal fluency, insulin resistance accounted for lower performance in visuospatial skills/speed and the metabolic syndrome predicted lower performance in both cognitive domains. From the biomarkers of CVD, CRP was negatively related to verbal fluency performance and increasing ADMA

  14. Cerebrovascular Manifestations of Neurosarcoidosis: An Underrecognized Aspect of the Imaging Spectrum.

    Science.gov (United States)

    Bathla, G; Watal, P; Gupta, S; Nagpal, P; Mohan, S; Moritani, T

    2017-12-28

    Involvement of the central nervous system by sarcoidosis, also referred to as neurosarcoidosis, is seen clinically in about 5% of patients with systemic disease. CNS involvement most frequently affects the leptomeninges and cranial nerves, though the ventricular system, brain parenchyma, and pachymeninges may also be involved. Even though the involvement of the intracranial vascular structures is well-known on postmortem studies, there is scant literature on imaging manifestations secondary to the vessel wall involvement, being confined mostly to isolated case reports and small series. The authors present a review of various cerebrovascular manifestations of neurosarcoidosis, along with a brief synopsis of the existing literature. © 2018 by American Journal of Neuroradiology.

  15. Genetic engineering and therapy for inherited and acquired cardiomyopathies.

    Science.gov (United States)

    Day, Sharlene; Davis, Jennifer; Westfall, Margaret; Metzger, Joseph

    2006-10-01

    The cardiac myofilaments consist of a highly ordered assembly of proteins that collectively generate force in a calcium-dependent manner. Defects in myofilament function and its regulation have been implicated in various forms of acquired and inherited human heart disease. For example, during cardiac ischemia, cardiac myocyte contractile performance is dramatically downregulated due in part to a reduced sensitivity of the myofilaments to calcium under acidic pH conditions. Over the last several years, the thin filament regulatory protein, troponin I, has been identified as an important mediator of this response. Mutations in troponin I and other sarcomere genes are also linked to several distinct inherited cardiomyopathic phenotypes, including hypertrophic, dilated, and restrictive cardiomyopathies. With the cardiac sarcomere emerging as a central player for such a diverse array of human heart diseases, genetic-based strategies that target the myofilament will likely have broad therapeutic potential. The development of safe vector systems for efficient gene delivery will be a critical hurdle to overcome before these types of therapies can be successfully applied. Nonetheless, studies focusing on the principles of acute genetic engineering of the sarcomere hold value as they lay the essential foundation on which to build potential gene-based therapies for heart disease.

  16. The impact of the introduction of new recognition criteria for overwork-related cardiovascular and cerebrovascular diseases: a cross-country comparison.

    Science.gov (United States)

    Lin, Ro-Ting; Lin, Cheng-Kuan; Christiani, David C; Kawachi, Ichiro; Cheng, Yawen; Verguet, Stéphane; Jong, Simcha

    2017-03-13

    Cardiovascular and cerebrovascular diseases (CVDs) related to overwork are common in Asia, as is death from overwork, known as karoshi. Japan was the first country in the world to introduce criteria for recognizing overwork-related CVDs in 1961. Taiwan followed Japan in putting in place new policies and then updating these in 2010. We aimed to investigate the effect of introducing the new criteria for recognizing overwork-related CVDs in both countries. We defined the baseline period as the 5 years before launch of the new criteria, then collected data to 5 years after the new criteria. We applied a Poisson regression model to analyze the longitudinal change in rates of overwork-related CVDs before and after, adjusting for indicators of working conditions. Implementation of the new criteria was associated with a 2.58-fold increase in the rate of overwork-related CVDs (p-value < 0.05). However, the examined policy framework in Taiwan still appears to miss a substantial number of cases compared to that are captured by a similar policy framework used to capture overwork-related CVD rates in Japan by a factor of 0.42 (p-value < 0.05). Accordingly, we make a case for enhancements of Taiwan's system for reporting and recognizing overwork-related diseases and deaths.

  17. [The estimated incidence and case fatality rate of ischemic and hemorrhagic cerebrovascular disease in 2002 in Catalonia].

    Science.gov (United States)

    Marrugat, Jaume; Arboix, Adrià; García-Eroles, Lluís; Salas, Teresa; Vila, Joan; Castell, Conxa; Tresserras, Ricard; Elosua, Roberto

    2007-06-01

    The aim of this study was to obtain an estimate of the incidence of cerebrovascular disease (CVD) in the Spanish population in 2002. The study involved data on patients aged over 24 years for the year 2002 contained in both the death register and the Minimum Basic Data Set from 65 of the 84 Catalan general hospitals (i.e., 90.7% of all acute hospital beds in Catalonia). Total and age-adjusted mortality rates, cumulative incidence, and hospitalization rates, and the 28-day case fatality rate for CVD in the Catalan population were calculated after cases of traumatic and transient disease had been excluded. The unadjusted CVD mortality rate per 100,000 population aged over 24 years in Catalonia was 92 in men and 119 in women. The age-adjusted rates were 58 (95% confidence interval or CI, 56-61) and 43 (95% CI, 41-44), respectively. The cumulative incidence of CVD per 100,000 population was 218 (95% CI, 214-221) in men and 127 (95% CI, 125-128) in women. The unadjusted 28-day case fatality rate in the population was 36.2%: 30.3% in men and 42.0% in women. Some 62.5% of patients (57.2% of men and 66.4% of women) died from CVD outside hospital. These findings indicate that CVD mortality and incidence rates in Catalonia are among the lowest in developed countries. More than half of the deaths that took place within 28 days after the onset of symptoms occurred outside hospital.

  18. Antioxidants and Dementia Risk: Consideration through a Cerebrovascular Perspective

    Directory of Open Access Journals (Sweden)

    Virginie Lam

    2016-12-01

    Full Text Available A number of natural and chemical compounds that exert anti-oxidative properties are demonstrated to be beneficial for brain and cognitive function, and some are reported to reduce the risk of dementia. However, the detailed mechanisms by which those anti-oxidative compounds show positive effects on cognition and dementia are still unclear. An emerging body of evidence suggests that the integrity of the cerebrovascular blood-brain barrier (BBB is centrally involved in the onset and progression of cognitive impairment and dementia. While recent studies revealed that some anti-oxidative agents appear to be protective against the disruption of BBB integrity and structure, few studies considered the neuroprotective effects of antioxidants in the context of cerebrovascular integrity. Therefore, in this review, we examine the mechanistic insights of antioxidants as a pleiotropic agent for cognitive impairment and dementia through a cerebrovascular axis by primarily focusing on the current available data from physiological studies. Conclusively, there is a compelling body of evidence that suggest antioxidants may prevent cognitive decline and dementia by protecting the integrity and function of BBB and, indeed, further studies are needed to directly examine these effects in addition to underlying molecular mechanisms.

  19. DNA mutation motifs in the genes associated with inherited diseases.

    Directory of Open Access Journals (Sweden)

    Michal Růžička

    Full Text Available Mutations in human genes can be responsible for inherited genetic disorders and cancer. Mutations can arise due to environmental factors or spontaneously. It has been shown that certain DNA sequences are more prone to mutate. These sites are termed hotspots and exhibit a higher mutation frequency than expected by chance. In contrast, DNA sequences with lower mutation frequencies than expected by chance are termed coldspots. Mutation hotspots are usually derived from a mutation spectrum, which reflects particular population where an effect of a common ancestor plays a role. To detect coldspots/hotspots unaffected by population bias, we analysed the presence of germline mutations obtained from HGMD database in the 5-nucleotide segments repeatedly occurring in genes associated with common inherited disorders, in particular, the PAH, LDLR, CFTR, F8, and F9 genes. Statistically significant sequences (mutational motifs rarely associated with mutations (coldspots and frequently associated with mutations (hotspots exhibited characteristic sequence patterns, e.g. coldspots contained purine tract while hotspots showed alternating purine-pyrimidine bases, often with the presence of CpG dinucleotide. Using molecular dynamics simulations and free energy calculations, we analysed the global bending properties of two selected coldspots and two hotspots with a G/T mismatch. We observed that the coldspots were inherently more flexible than the hotspots. We assume that this property might be critical for effective mismatch repair as DNA with a mutation recognized by MutSα protein is noticeably bent.

  20. Structure of comorbid diseases inpatients with non-alcoholic fatty liver disease, exposed to ionizing radiation as a result of the Chornobyl NPP accident

    International Nuclear Information System (INIS)

    Gasanova, O.V.; Sarkyisova, E.O.; Ovsyannyikova, L.M.; And Others

    2014-01-01

    A significant amount of co-morbid pathology was found in all studied groups but III CG: at the average from 4.1 ± 0.4 diseases in II CG to 5.2 ± 0.2 in the main group of patients (p < 0.05), among which in 6.6-7.1 % of cases more than 10 diseases were established. The most common disorders were cardiovascular and cerebrovascular and endocrine diseases. Structure of comorbid pathology in NAFLD in the main study group differed from this in II CG by a significantly greater frequency of detection of cerebrovascular diseases (73.5 and 56 %, p < 0.05). As for features of the metabolic syndrome in Chornobyl accident sufferers essential hypertension (71.3 % ), discirculatory encephalopathy (48.5 %) and thyroid diseases (47.1 %) were more frequent than in II GC: correspondingly 58 % (p < 0.001), 28 %, (p < 0.01), and 30 %, (p < 0.05). Essential hypertension in only 35.7 % patients without NAFLD (I CG) was detected (71.3 % in the study group, p < 0.01), and chronic cerebrovascular insufficiency in 71.4 % (39.7 % in the study group, p < 0.01). Structure of comorbid pathology in NAFLD patients sufferers of the Chornobyl NPP accident was different both in a large number of identified diseases and nosological structure. The most common disorders were cardiovascular, cerebrovascular, and endocrine diseases. Significantly higher incidence of essential hypertension, vascular encephalopathy, and thyroid disease was determined

  1. The evolutionary implications of epigenetic inheritance.

    Science.gov (United States)

    Jablonka, Eva

    2017-10-06

    The Modern Evolutionary Synthesis (MS) forged in the mid-twentieth century was built on a notion of heredity that excluded soft inheritance, the inheritance of the effects of developmental modifications. However, the discovery of molecular mechanisms that generate random and developmentally induced epigenetic variations is leading to a broadening of the notion of biological heredity that has consequences for ideas about evolution. After presenting some old challenges to the MS that were raised, among others, by Karl Popper, I discuss recent research on epigenetic inheritance, which provides experimental and theoretical support for these challenges. There is now good evidence that epigenetic inheritance is ubiquitous and is involved in adaptive evolution and macroevolution. I argue that the many evolutionary consequences of epigenetic inheritance open up new research areas and require the extension of the evolutionary synthesis beyond the current neo-Darwinian model.

  2. Prenatal molecular diagnosis of inherited neuromuscular diseases: Duchenne/Becker muscular dystrophy, myotonic dystrophy type 1 and spinal muscular atrophy.

    Science.gov (United States)

    Esposito, Gabriella; Ruggiero, Raffaella; Savarese, Maria; Savarese, Giovanni; Tremolaterra, Maria Roberta; Salvatore, Francesco; Carsana, Antonella

    2013-12-01

    Neuromuscular disease is a broad term that encompasses many diseases that either directly, via an intrinsic muscle disorder, or indirectly, via a nerve disorder, impairs muscle function. Here we report the experience of our group in the counselling and molecular prenatal diagnosis of three inherited neuromuscular diseases, i.e., Duchenne/Becker muscular dystrophy (DMD/BMD), myotonic dystrophy type 1 (DM1), spinal muscular atrophy (SMA). We performed a total of 83 DMD/BMD, 15 DM1 and 54 SMA prenatal diagnoses using a combination of technologies for either direct or linkage diagnosis. We identified 16, 5 and 10 affected foetuses, respectively. The improvement of analytical procedures in recent years has increased the mutation detection rate and reduced the analytical time. Due to the complexity of the experimental procedures and the high, specific professional expertise required for both laboratory activities and the related counselling, these types of analyses should be preferentially performed in reference molecular diagnostic centres.

  3. Effects of Dietary Nitrates on Systemic and Cerebrovascular Hemodynamics

    Directory of Open Access Journals (Sweden)

    Vernon Bond

    2013-01-01

    Full Text Available Cerebral blood flow dysregulation is often associated with hypertension. We hypothesized that a beetroot juice (BRJ treatment could decrease blood pressure and cerebrovascular resistance (CVR. We subjected 12 healthy females to control and BRJ treatments. Cerebrovascular resistance index (CVRI, systolic blood pressure (SBP, total vascular resistance (TVR, and the heart rate-systolic pressure product (RPP measured at rest and at two exercise workloads were lower after the BRJ treatment. CVRI, SBP, and RPP were lower without a lower TVR at the highest exercise level. These findings suggest improved systemic and cerebral hemodynamics that could translate into a dietary treatment for hypertension.

  4. Association between temperature and emergency room visits for cardiorespiratory diseases, metabolic syndrome-related diseases, and accidents in metropolitan Taipei.

    Science.gov (United States)

    Wang, Yu-Chun; Lin, Yu-Kai

    2014-01-01

    This study evaluated risks of the emergency room visits (ERV) for cerebrovascular diseases, heart diseases, ischemic heart disease, hypertensive diseases, chronic renal failure (CRF), diabetes mellitus (DM), asthma, chronic airway obstruction not elsewhere classified (CAO), and accidents associated with the ambient temperature from 2000 to 2009 in metropolitan Taipei. The distributed lag non-linear model was used to estimate the cumulative relative risk (RR) and confidence interval (CI) of cause-specific ERV associated with daily temperature from lag 0 to lag 3 after controlling for potential confounders. This study identified that temperatures related to the lowest risk of ERV was 26 °C for cerebrovascular diseases, 18 °C for CRF, DM, and accidents, and 30 °C for hypertensive diseases, asthma, and CAO. These temperatures were used as the reference temperatures to measure RR for the corresponding diseases. A low temperature (14°C) increased the ERV risk for cerebrovascular diseases, hypertensive diseases, and asthma, with respective cumulative 4-day RRs of 1.56 (95% CI: 1.23, 1.97), 1.78 (95% CI: 1.37, 2.34), and 2.93 (95% CI: 1.26, 6.79). The effects were greater on, or after, lag one. At 32°C, the cumulative 4-day RR for ERV was significant for CRF (RR = 2.36; 95% CI: 1.33, 4.19) and accidents (RR = 1.23; 95% CI: 1.14, 1.33) and the highest RR was seen on lag 0 for CRF (RR = 1.69; 95% CI: 1.01, 3.58), DM (RR = 1.69; 95% CI: 1.09, 2.61), and accidents (RR = 1.19; 95% CI: 1.11, 1.27). Higher temperatures are associated with the increased ERV risks for CRF, DM, and accidents and lower temperatures with the increased ERV risks for cerebrovascular diseases, hypertensive diseases, and asthma in the subtropical metropolitan.

  5. Results of CT brain examinations in cerebrovascular emergency. [computerized tomography

    Energy Technology Data Exchange (ETDEWEB)

    Pinta, Z; Dolansky, J; Sorfova, J; Jerie, T

    1987-07-01

    Experience is briefly reported with CT (computerized tomography) diagnosis of cerebrovascular emergencies. It is pointed out that the introduction of computerized tomography greatly improved and made more accurate the diagnosis of focal ischemias and revealed significant differences in the foci of ischemia in hypertension patients and atherosclerosis patients without hypertension, and showed a higher incidence of intracerebral and subarachnoidal hemorrhages than previously thought. It is believed that knowledge gained thanks to CT (computerized tomography) will be of benefit to the primary and secondary prevention of cerebrovascular ischemias. (L.O.). 1 fig., 5 refs.

  6. Evaluation of successive Tc-99m brain angiography and vasoactive drugs on occlusive cerebrovascular disease

    International Nuclear Information System (INIS)

    Shimamura, Osamu

    1986-01-01

    Cerebral circulation in the patients with unilateral occlusive cerebrovascular disease (CVD) in chronic stage was evaluated by radionuclide angiography (RNA) using Tc-99m pertechnetate. RNA (each Tc-99m dose = 20 mCi) was repeated in short time interval. Employed parameters were as follows; appearance to peak time (APT), brain transit time (BTT), peak count (PC) and up slope (US). These parameters were calculated from time activity curve (TAC) of ''region of interest'' on each hemisphere and the values obtained in affected side were compared with those of normal side and control hemisphere. Reproducibility of these values were satisfactory in PC and US. The results obtained were as follows: In affected hemisphere, PC and US were significantly reduced, while APT and BTT were not significantly affected. The ratio of PC and US between left and right hemispheres increased in the patients with CVD and the latter was particularly significant to detect the abnormality. Effect of vasoactive drugs such as papaverine, acetazolamide, angiotensin II or methoxamine on these parameters was studied in 24 patients with CVD and 16 patients without CVD. Papaverine and acetazolamide increased significantly PC and US in normal hemisphere of patients without CVD and US in normal hemisphere of patients with CVD, while US in these hemispheres were decreased under high blood pressure induced by angiotensin II and methoxamine. These responses, however, were mild or not detected in the affected hemispheres. (J.P.N.)

  7. Long-term risk of cardiovascular and cerebrovascular disease after removal of the colonic microbiota by colectomy: a cohort study based on the Danish National Patient Register from 1996 to 2014

    DEFF Research Database (Denmark)

    Jensen, Anders Boeck; Ajslev, Teresa Adeltoft; Brunak, Søren

    2015-01-01

    it intact and other surgeries not related to the gastrointestinal tract or CVD (n=22 950). The primary outcome was the first occurring CVD event in any of the seven diagnostic domains (hypertensive disorders, acute ischaemic heart diseases, chronic ischaemic heart disease, cardiac arrhythmias, heart failure......, cerebrovascular diseases and other arterial diseases) and the secondary outcomes were the first occurring event within each of these domains. Estimated by Cox proportional hazard models, the HRs of the composite CVD end point for patients with colectomy compared with the control patients were not significantly...... reduced (HR=0.94, 95% confidence limits 0.85 to 1.04). Among the seven CVD domains, only the risk of hypertensive disorders was significantly reduced (HR=0.85, 0.73 to 0.98). Colectomy did not reduce the general risk of CVD, but reduced the risk of hypertensive disorders, most likely due to salt and water...

  8. Congenital and genetic cerebrovascular anomalies as risk factors for stroke in Saudi Arabia

    International Nuclear Information System (INIS)

    Salih, Mustafa A.; Al-Jarallah, Ahmed A.; Kentab, Amal Y.; Murshid, Waleed R.; Zahraa, Jihad N.; Abdel-Gader, Abdel-Galil M.; Alorainy, Ibrahim A.; Hassan, Hamdy H.; Tjan, G. T.

    2006-01-01

    To explore the role of and report congenital and genetic cerebrovascular anomalies as risk factors for stroke in a prospective and retrospective cohort of Saudi children. Children with stroke were evaluated at the Division of Pediatric Neurology (Dpn), or were seen as inpatients in the Pediatric Wards at King Khalid University Hospital (KKUH), Riyadh, Kingdom of Saudi Arabia during the periods July 1992 to February 2001 (retrospective study) and February 2001 to March 2003 (prospective study). Stroke work-up for each suspected case included hemostatic assays, serological, biochemical and neurophysiological tests. Neuroimaging modalities included routine skill x-rays, CT, MRI, magnetic resonance angiography (MRA) and conventional cerebral angiography. Of 104 children with stroke, congenital and genetic cerebrovascular anomalies were the underlying risk factor in 7 (6.7%). The patients were evaluated at the DPN at a mean age of 66 months (range = 8 months to 11 years, median = 6 years); and they had stroke at a mean age of 48 months (range = 2 months to 10 years, median = 8 months). Four patients had stroke in association with neurocutaneous syndromes. Two had Sturge-Weber syndrome (SWS), one had Klippel-Trenaunay syndrome associated with SWS, and the fourth had neurofibromatosis type 1. Two patients had intracranial hemorrhage secondary to ruptured aneurysm. A girl (aged 9 years and 4 months) had left posterior cerebral artery aneurysm. She was diagnosed to have autosomal dominant polycystic kidney disease following renal ultrasonography. She died 5 months later despite surgical intervention (clipping of aneurysm). The second child was an 8-months-old boy who presented with subarachnoid and intraventricular hemorrhage (IVH) following ruptured anterior communicating artery aneurysm. He recovered with no residual symptoms following successful clipping of the aneurysm. Arteriovenous malformation (AVM) caused IVH in a 7-year-old boy who reported to hospital 5 hours

  9. [Effect of Chinese drugs for activating blood circulation and removing blood stasis on carotid atherosclerosis and ischemic cerebrovascular events].

    Science.gov (United States)

    Lu, Yan; Li, Tao

    2014-03-01

    To explore the effect of Chinese drugs for activating blood circulation and removing blood stasis (CDABCRBS) on carotid atherosclerotic plaque and long-term ischemic cerebrovascular events. By using open and control method, effect of 4 groups of platelet antagonists, platelet antagonists + CDABCRBS, platelet antagonists +atorvastatin, platelet antagonists +atorvastatin +CDABCRBS on carotid atherosclerotic plaque and long-term ischemic cerebrovascular events of 90 cerebral infarction patients were analyzed. Through survival analysis, there was no statistical difference in the effect of the 4 interventions on the variation of carotid stenosis rates or ischemic cerebrovascular events (P > 0.05). The occurrence of ischemic cerebrovascular events could be postponed by about 4 months in those treated with platelet antagonists + CDABCRBS and platelet antagonists + atorvastatin +CDABCRBS. By multivariate Logistic analysis, age, hypertension, and clopidogrel were associated with stenosis of extracranial carotid arteries (P cerebrovascular accidents (P cerebrovascular events. CDABCRBS could effectively prolong the occurrence time of ischemic cerebrovascular events.

  10. Primer in Genetics and Genomics, Article 4-Inheritance Patterns.

    Science.gov (United States)

    Aiello, Lisa B; Chiatti, Beth Desaretz

    2017-07-01

    Since the completion of the Human Genome Project, much has been uncovered about inheritance of various illnesses and disorders. There are two main types of inheritance: Mendelian and non-Mendelian. Mendelian inheritance includes autosomal dominant, autosomal recessive, X-linked, and Y-linked inheritance. Non-Mendelian inheritance includes mitochondrial and multifactorial inheritance. Nurses must understand the types of inheritance in order to identify red flags that may indicate the possibility of a hereditary disorder in a patient or family.

  11. Regional cerebral blood flow using sup 133 Xenon intra-venous technique, 2; Evaluation of regional cerebral blood flow in patients with cerebrovascular ischemic disease

    Energy Technology Data Exchange (ETDEWEB)

    Yonekura, Masahiro; Teramoto, Shigeyoshi; Moriyama, Tadayoshi (Nagasaki Chuo National Hospital (Japan))

    1990-12-01

    Using the {sup 133}Xenon venous method, we have studied the regional cerebral blood flow (rCBF) in 947 patients with cerebrovascular ischemic disease. In 116 stroke or TIA patients with internal carotid artery occlusion or severe stenosis, their rCBF revealed 48.9 ml/100 g/min on average in the group of one side occlusion, 46.7 ml/100 g/min in the group of both sides occlusion. These values reduced approximately 12%, 16% and 15% of the rCBF in healthy volunteers of same age, respectively. In 28 patients with moya moya disease, their rCBF tended to be higher in younger cases and lower with advanced age. In the majority of the cases, their rCBF was age-dependent with 20{similar to}25 ml/100 g/min below the curve of age-matched rCBF of healthy volunteers. The reduction of rCBF was observed in 69 (48.3%) of 143 cases clinically diagnosed as small vessel disease, in 58 (41.4%) of 140 cases with vertebro-basilar insufficiency and in 23 (44.2%) of 52 cases with syncopal attack compared with the rCBF of healthy volunteers. (author).

  12. Inheritance conditions for object life cycle diagrams

    NARCIS (Netherlands)

    Lipeck, U.W.; Saake, Gunter; Hartel, Peter; Vossen, G.; Jungclaus, Ralf; Wieringa, Roelf J.; Feenstra, Remco

    Inheritance is the main principle in object-oriented design methods to support structuring and reuse of object behaviour descriptions. Most proposals restrict the formal use of inheritance to method interfaces and method effect specifcations. We propose to extend the inheritance relation to cover

  13. Panel-Based Clinical Genetic Testing in 85 Children with Inherited Retinal Disease.

    Science.gov (United States)

    Taylor, Rachel L; Parry, Neil R A; Barton, Stephanie J; Campbell, Christopher; Delaney, Claire M; Ellingford, Jamie M; Hall, Georgina; Hardcastle, Claire; Morarji, Jiten; Nichol, Elisabeth J; Williams, Lindsi C; Douzgou, Sofia; Clayton-Smith, Jill; Ramsden, Simon C; Sharma, Vinod; Biswas, Susmito; Lloyd, I Chris; Ashworth, Jane L; Black, Graeme C; Sergouniotis, Panagiotis I

    2017-07-01

    To assess the clinical usefulness of genetic testing in a pediatric population with inherited retinal disease (IRD). Single-center retrospective case series. Eighty-five unrelated children with a diagnosis of isolated or syndromic IRD who were referred for clinical genetic testing between January 2014 and July 2016. Participants underwent a detailed ophthalmic examination, accompanied by electrodiagnostic testing (EDT) and dysmorphologic assessment where appropriate. Ocular and extraocular features were recorded using Human Phenotype Ontology terms. Subsequently, multigene panel testing (105 or 177 IRD-associated genes) was performed in an accredited diagnostic laboratory, followed by clinical variant interpretation. Diagnostic yield and clinical usefulness of genetic testing. Overall, 78.8% of patients (n = 67) received a probable molecular diagnosis; 7.5% (n = 5) of these had autosomal dominant disease, 25.4% (n = 17) had X-linked disease, and 67.2% (n = 45) had autosomal recessive disease. In a further 5.9% of patients (n = 5), a single heterozygous ABCA4 variant was identified; all these participants had a spectrum of clinical features consistent with ABCA4 retinopathy. Most participants (84.7%; n = 72) had undergone EDT and 81.9% (n = 59) of these patients received a probable molecular diagnosis. The genes most frequently mutated in the present cohort were CACNA1F and ABCA4, accounting for 14.9% (n = 10) and 11.9% (n = 8) of diagnoses respectively. Notably, in many cases, genetic testing helped to distinguish stationary from progressive IRD subtypes and to establish a precise diagnosis in a timely fashion. Multigene panel testing pointed to a molecular diagnosis in 84.7% of children with IRD. The diagnostic yield in the study population was significantly higher compared with that in previously reported unselected IRD cohorts. Approaches similar to the one described herein are expected to become a standard component of care in pediatric ophthalmology

  14. Current perspectives on mitochondrial inheritance in fungi

    Directory of Open Access Journals (Sweden)

    Xu J

    2015-08-01

    Full Text Available Jianping Xu,1,2 He Li2 1Department of Biology, McMaster University, Hamilton, Canada; 2The Key Laboratory for Non-Wood Forest Cultivation and Conservation of the Federal Ministry of Education, Central South University of Forestry and Technology, Changsha, People’s Republic of China Abstract: The mitochondrion is an essential organelle of eukaryotes, generating the universal energy currency, adenosine triphosphate, through oxidative phosphorylation. However, aside from generation of adenosine triphosphate, mitochondria have also been found to impact a diversity of cellular functions and organ system health in humans and other eukaryotes. Thus, inheriting and maintaining functional mitochondria are essential for cell health. Due to the relative ease of conducting genetic and molecular biological experiments using fungi, they (especially the budding yeast Saccharomyces cerevisiae have been used as model organisms for investigating the patterns of inheritance and intracellular dynamics of mitochondria and mitochondrial DNA. Indeed, the diversity of mitochondrial inheritance patterns in fungi has contributed to our broad understanding of the genetic, cellular, and molecular controls of mitochondrial inheritance and their evolutionary implications. In this review, we briefly summarize the patterns of mitochondrial inheritance in fungi, describe the genes and processes involved in controlling uniparental mitochondrial DNA inheritance in sexual crosses in basidiomycete yeasts, and provide an overview of the molecular and cellular processes governing mitochondrial inheritance during asexual budding in S. cerevisiae. Together, these studies reveal that complex regulatory networks and molecular processes are involved in ensuring the transmission of healthy mitochondria to the progeny. Keywords: uniparental inheritance, biparental inheritance, mating type, actin cable, mitochore, mitochondrial partition 

  15. Cardiac Iodine-123 metaiodobenzylguanidine (123I-MIBG) scintigraphy parameter predicts cardiac and cerebrovascular events in type 2 diabetic patients without structural heart disease

    International Nuclear Information System (INIS)

    Yufu, Kunio; Takahashi, Naohiko; Okada, Norihiro; Shinohara, Tetsuji; Nakagawa, Mikiko; Hara, Masahide; Yoshimatsu, Hironobu; Saikawa, Tetsunori

    2012-01-01

    Cardiac iodine-123 metaiodobenzylguanidine ( 123 I-MIBG) scintigraphy is an established method of assessment of cardiovascular sympathetic function. The aim of the present study was to investigate the long-term cardiovascular predictive value of cardiac 123 I-MIBG scintigraphy parameters in Japanese type 2 diabetic patients without structural heart disease. Cardiac 123 I-MIBG scintigraphy in 108 patients with type 2 diabetes who did not have structural heart disease, was evaluated. The washout rate (WR) was considered enhanced if it was ≥40%. Accurate follow-up information for 4.6 years was obtained in 54 enhanced WR patients (27 male; mean age, 61±11 years) and in 54 sex- and age-matched preserved WR patients (27 male; mean age, 61±10 years). Major adverse cardiac and cerebrovascular events (MACCE) were investigated. During follow-up, 10 enhanced WR patients developed MACCE including cardiac death, coronary revascularization, stroke, and congestive heart failure, while MACCE occurred in only 3 male patients. The Kaplan-Meier curves indicated that enhanced WR patients had higher incidence of MACCE than those with preserved WR (P 123 I-MIBG scintigraphy at baseline has long-term cardiovascular predictive value in Japanese patients with type 2 diabetes without structural heart disease. (author)

  16. Cerebrovascular disease in pediatric patients

    Directory of Open Access Journals (Sweden)

    Rotta Newra Tellechea

    2002-01-01

    Full Text Available Although rare in childhood, stroke may have a serious impact when it happens in this stage of life. Also, it may be the first sign of a systemic disease. We report 12 cases of patients with stroke treated in the Neuropediatrics Unit of Hospital de Clínicas de Porto Alegre (HCPA from March 1997 to March 2000. All patients, from term infants to 12-year-old children hospitalized in the Pediatrics Unit of HCPA, had clinical suspicion of stroke, which was later confirmed by radiological studies. Patient follow up ranged from 1 to 6 years (mean = 3.4 years. Presenting symptoms were hemiparesis in 9 patients, seizures in 7, deviation of labial commissure in 3, and loss of consciousness in 1. The increase in the number of cases of childhood stroke identified and later confirmed by noninvasive methods had helped in the determination of different ethiologies of stroke: the most frequent being hematologic, cardiac and genetic diseases. However, our study included 6 newborns with stroke whose ethiology was not identified. Seven children with seizures received phenobarbital. Six term infants had neonatal seizures secondary to stroke and restricted to the first 72 hours of life.

  17. Geographic Variation in Morbidity and Mortality of Cerebrovascular Diseases in Korea during 2011-2015.

    Science.gov (United States)

    Lee, Juyeon; Bahk, Jinwook; Kim, Ikhan; Kim, Yeon-Yong; Yun, Sung-Cheol; Kang, Hee-Yeon; Lee, Jeehye; Park, Jong Heon; Shin, Soon-Ae; Khang, Young-Ho

    2018-03-01

    Little is known about within-country variation in morbidity and mortality of cerebrovascular diseases (CVDs). Geographic differences in CVD morbidity and mortality have yet to be properly examined. This study examined geographic variation in morbidity and mortality of CVD, neighborhood factors for CVD morbidity and mortality, and the association between CVD morbidity and mortality across the 245 local districts in Korea during 2011-2015. District-level health care utilization and mortality data were obtained to estimate age-standardized CVD morbidity and mortality. The bivariate Pearson correlation was used to examine the linear relationship between district-level CVD morbidity and mortality Z-scores. Simple linear regression and multivariate analyses were conducted to investigate the associations of area characteristics with CVD morbidity, mortality, and discrepancies between morbidity and mortality. Substantial variation was found in CVD morbidity and mortality across the country, with 1074.9 excess CVD inpatients and 73.8 excess CVD deaths per 100,000 between the districts with the lowest and highest CVD morbidity and mortality, respectively. Higher rates of CVD admissions and deaths were clustered in the noncapital regions. A moderate geographic correlation between CVD morbidity and mortality was found (Pearson correlation coefficient = .62 for both genders). Neighborhood level indicators for socioeconomic disadvantages, undersupply of health care resources, and unhealthy behaviors were positively associated with CVD morbidity and mortality and the relative standing of CVD mortality vis-à-vis morbidity. Policy actions targeting life-course socioeconomic conditions, equitable distribution of health care resources, and behavioral risk factors may help reduce geographic differences in CVD morbidity and mortality in Korea. Copyright © 2018 National Stroke Association. Published by Elsevier Inc. All rights reserved.

  18. The effect of kineziotape on ankle joint in patients with cerebrovascular accident - objectivisation by a footscan

    OpenAIRE

    Veličková, Barbora

    2013-01-01

    BACHELOR THESIS ABSTRACT Name and surname: Barbora Veličková Supervisor: Bc. Tereza Chalupská Opponent: Title: The effect of kineziotape on ankle joint in patients with cerebrovascular accident - objectivisation by a footscan Key words: kineziotaping, ankle joint, cerebrovascular accident, Footscan® Abstract: This bachelor thesis is focused on on the effect of kineziotape on ankle joint in patients with cerebrovascular accident. The bachelor thesis consists of theoretical and practical part. ...

  19. Clinical validation of nursing outcome mobility in patients with cerebrovascular accidents.

    Science.gov (United States)

    Moreira, Rafaella Pessoa; Araujo, Thelma Leite de; Lopes, Marcos Venicios de Oliveira; Cavalcante, Tahissa Frota; Guedes, Nirla Gomes; Chaves, Emília Soares; Portela, Regiane Campos; Holanda, Rose-Eloise

    2016-12-15

    To clinically validate the nursing outcome Mobility in patients with cerebrovascular accidents. Descriptive study, conducted in July 2011, with 38 outpatients, in northeastern Brazil. Data collection took place by evaluating two pairs of specialist nurses, where one pair used the instrument containing the constitutive and operational definitions of the indicators and magnitudes of the Mobility Outcome and the other pair without such definitions. When analyzing the evaluations among nurses, all indicators showed significant differences by the Friedman test (p cerebrovascular accident patient's mobility state.

  20. Standardised mortality rate for cerebrovascular diseases in the Slovak Republic from 1996 to 2013 in the context of income inequalities and its international comparison.

    Science.gov (United States)

    Gavurová, Beáta; Kováč, Viliam; Vagašová, Tatiana

    2017-12-01

    Non-communicable diseases represent one of the greatest challenges for health policymakers. The main objective of this study is to analyse the development of standardised mortality rates for cerebrovascular disease, which is one of the most common causes of deaths, in relation to income inequality in individual regions of the Slovak Republic. Direct standardisation was applied using data from the Slovak mortality database, covering the time period from 1996 to 2013. The standardised mortality rate declined by 4.23% in the Slovak Republic. However, since 1996, the rate has been higher by almost 33% in men than in women. Standardised mortality rates were lower in the northern part of the Slovak Republic than in the southern part. The regression models demonstrated an impact of the observed income-related dimensions on these rates. The income quintile ratio and Gini coefficient appeared to be the most influencing variables. The results of the analysis highlight valuable baseline information for creating new support programmes aimed at eliminating health inequalities in relation to health and social policy.

  1. Ancestral dichlorodiphenyltrichloroethane (DDT) exposure promotes epigenetic transgenerational inheritance of obesity

    Science.gov (United States)

    2013-01-01

    Background Ancestral environmental exposures to a variety of environmental factors and toxicants have been shown to promote the epigenetic transgenerational inheritance of adult onset disease. The present work examined the potential transgenerational actions of the insecticide dichlorodiphenyltrichloroethane (DDT) on obesity and associated disease. Methods Outbred gestating female rats were transiently exposed to a vehicle control or DDT and the F1 generation offspring bred to generate the F2 generation and F2 generation bred to generate the F3 generation. The F1 and F3 generation control and DDT lineage rats were aged and various pathologies investigated. The F3 generation male sperm were collected to investigate methylation between the control and DDT lineage male sperm. Results The F1 generation offspring (directly exposed as a fetus) derived from the F0 generation exposed gestating female rats were not found to develop obesity. The F1 generation DDT lineage animals did develop kidney disease, prostate disease, ovary disease and tumor development as adults. Interestingly, the F3 generation (great grand-offspring) had over 50% of males and females develop obesity. Several transgenerational diseases previously shown to be associated with metabolic syndrome and obesity were observed in the testis, ovary and kidney. The transgenerational transmission of disease was through both female (egg) and male (sperm) germlines. F3 generation sperm epimutations, differential DNA methylation regions (DMR), induced by DDT were identified. A number of the genes associated with the DMR have previously been shown to be associated with obesity. Conclusions Observations indicate ancestral exposure to DDT can promote obesity and associated disease transgenerationally. The etiology of disease such as obesity may be in part due to environmentally induced epigenetic transgenerational inheritance. PMID:24228800

  2. Sludge and stone formation in the gallbladder in bedridden elderly patients with cerebrovascular disease: influence of feeding method.

    Science.gov (United States)

    Onizuka, Y; Mizuta, Y; Isomoto, H; Takeshima, F; Murase, K; Miyazaki, M; Ogata, H; Otsuka, K; Murata, I; Kohno, S

    2001-05-01

    The incidence of gallbladder sludge or gallstone formation in bedridden patients with cerebrovascular disease (CVD) remains obscure. The aim of this study was to determine the incidence, relationship to feeding method, and mechanisms of gallbladder sludge and gallstone formation in elderly patients with CVD. Using ultrasonography, we determined the development of gallbladder sludge and gallstone over a 12-month period, the area of the gallbladder, the gallbladder contractile response to cerulein, and fasting levels of plasma cholecystokinin (CCK) in 40 bedridden elderly patients with CVD. The patients were divided into three groups based on the feeding method: oral ingestion (OI), nasogastric feeding (NF), and total parenteral nutrition (TPN). Gallbladder sludge and gallstone were not observed in any of the 14 OI patients, but occurred in 6 and 1 of the 11 NF patients, and in 14 and 3 of the 15 TPN patients, respectively. Fasting gallbladder areas were significantly larger in the TPN group than in the other two groups. The TPN group showed a marked decrease in cerulein-induced gallbladder contractility. Fasting plasma CCK levels were lower in the TPN group than in the OI group. Our results indicate that elderly patients with CVD confined to bed over long periods are not necessarily at risk of gallbladder sludge or gallstone formation, and the development of these features may be associated with the feeding method. The predisposition of CVD patients on TPN to gallbladder disease is probably caused by failure of gallbladder contraction, resulting from insufficient secretion of CCK and impaired sensitivity of the gallbladder to CCK.

  3. 25 CFR 91.9 - Inheritance of improvements.

    Science.gov (United States)

    2010-04-01

    ... 25 Indians 1 2010-04-01 2010-04-01 false Inheritance of improvements. 91.9 Section 91.9 Indians..., OSAGE RESERVATION, OKLAHOMA § 91.9 Inheritance of improvements. (a) Upon the death of the owner of... of the county courts, State of Oklahoma, and shall be subject to inheritance or bequest in accordance...

  4. Cost-effectiveness of genotyping in inherited arrhythmia syndromes: are we getting value for the money?

    NARCIS (Netherlands)

    Wilde, Arthur A. M.; Pinto, Yigal M.

    2009-01-01

    Over the last decade, the identification of the diverse genetic basis of most important inherited arrhythmia syndromes has remarkably changed our attitude toward these life-threatening diseases. Just over 10 years ago, long-QT syndrome (LQTS) was considered one disease entity, Brugada -QT syndrome

  5. Biparental chloroplast inheritance leads to rescue from cytonuclear incompatibility.

    Science.gov (United States)

    Barnard-Kubow, Karen B; McCoy, Morgan A; Galloway, Laura F

    2017-02-01

    Although organelle inheritance is predominantly maternal across animals and plants, biparental chloroplast inheritance has arisen multiple times in the angiosperms. Biparental inheritance has the potential to impact the evolutionary dynamics of cytonuclear incompatibility, interactions between nuclear and organelle genomes that are proposed to be among the earliest types of genetic incompatibility to arise in speciation. We examine the interplay between biparental inheritance and cytonuclear incompatibility in Campanulastrum americanum, a plant species exhibiting both traits. We first determine patterns of chloroplast inheritance in genetically similar and divergent crosses, and then associate inheritance with hybrid survival across multiple generations. There is substantial biparental inheritance in C. americanum. The frequency of biparental inheritance is greater in divergent crosses and in the presence of cytonuclear incompatibility. Biparental inheritance helps to mitigate cytonuclear incompatibility, leading to increased fitness of F 1 hybrids and recovery in the F 2 generation. This study demonstrates the potential for biparental chloroplast inheritance to rescue cytonuclear compatibility, reducing cytonuclear incompatibility's contribution to reproductive isolation and potentially slowing speciation. The efficacy of rescue depended upon the strength of incompatibility, with a greater persistence of weak incompatibilities in later generations. These findings suggest that incompatible plastids may lead to selection for biparental inheritance. © 2016 The Authors. New Phytologist © 2016 New Phytologist Trust.

  6. Unique cerebrovascular anomalies in Noonan syndrome with RAF1 mutation.

    Science.gov (United States)

    Zarate, Yuri A; Lichty, Angie W; Champion, Kristen J; Clarkson, L Kate; Holden, Kenton R; Matheus, M Gisele

    2014-08-01

    Noonan syndrome is a common autosomal dominant neurodevelopmental disorder caused by gain-of-function germline mutations affecting components of the Ras-MAPK pathway. The authors present the case of a 6-year-old male with Noonan syndrome, Chiari malformation type I, shunted benign external hydrocephalus in infancy, and unique cerebrovascular changes. A de novo heterozygous change in the RAF1 gene was identified. The patient underwent brain magnetic resonance imaging, computed tomography angiography, and magnetic resonance angiography to further clarify the nature of his abnormal brain vasculature. The authors compared his findings to the few cases of Noonan syndrome reported with cerebrovascular pathology. © The Author(s) 2013.

  7. Metabolic Syndrome and Cardio-Cerebrovascular Risk Disparities Between Pilots and Aircraft Mechanics.

    Science.gov (United States)

    Kim, Myeong-Bo; Kim, Hyun-Jin; Kim, Soo-Hyeon; Lee, Suk-Ho; Lee, Se-Ho; Park, Won-Ju

    2017-09-01

    In the Republic of Korea Air Force, the health of pilots is strictly supervised, but there is comparatively not enough interest in aircraft mechanics' health. Among mechanics, who are heavily involved in military aircraft maintenance, the occurrence of sudden cardio-cerebrovascular diseases (CCVDs) is a possible risk factor during the maintenance process, which should be performed perfectly. We performed health examinations on 2123 male aircraft pilots and 1271 aircraft mechanics over 30 yr of age and determined the prevalence of metabolic syndrome (MetS), an important risk factor for CCVDs. The prevalence of MetS in the aircraft mechanics (21.3%) was significantly higher than in the pilots (12.6%), and the gap in prevalence tended to grow as age increased. Among aircraft mechanics in their 30s and 40s, the prevalence of MetS was lower than in the general population. However, the prevalence of MetS among aircraft mechanics in their 50s (36.0%) was similar to that in the general population (35.7%). Systematic health management is needed for aircraft mechanics for aviation safety and for the maintenance of military strength via the prevention of CCVDs.Kim M-B, Kim H-J, Kim S-H, Lee S-H, Lee S-H, Park W-J. Metabolic syndrome and cardio-cerebrovascular risk disparities between pilots and aircraft mechanics. Aerosp Med Hum Perform. 2017; 88(9):866-870.

  8. Differentiating views of inheritance : The free association task as a method to assess social representations of wealth, inherit, and bequeath

    NARCIS (Netherlands)

    Stark, Jennifer; Kogler, C.; Gaisbauer, Helmut; Sedmak, Clemens; Kirchler, Erich

    2016-01-01

    Inheritance and in particular inheritance taxes have emerged as topics of steadily increasing interest in public as well as scientific discourse and debate. The present study investigates laypeople’s differentiated social representations of inheritance with the aim of shedding light on distinct

  9. Paternal inheritance of classic X-linked bilateral periventricular nodular heterotopia.

    Science.gov (United States)

    Kasper, Burkhard S; Kurzbuch, Katrin; Chang, Bernard S; Pauli, Elisabeth; Hamer, Hajo M; Winkler, Jürgen; Hehr, Ute

    2013-06-01

    Periventricular nodular heterotopia (PNH) is a developmental disorder of the central nervous system, characterized by heterotopic nodules of gray matter resulting from disturbed neuronal migration. The most common form of bilateral PNH is X-linked dominant inherited, caused by mutations in the Filamin A gene (FLNA) and associated with a wide variety of other clinical findings including congenital heart disease. The typical patient with FLNA-associated PNH is female and presents with difficult to treat seizures. In contrast, hemizygous FLNA loss of function mutations in males are reported to be perinatally lethal. In X-linked dominant traits like FLNA-associated PNH the causal mutation is commonly inherited from the mother. Here, we present an exceptional family with paternal transmission of classic bilateral FLNA-associated PNH from a mildly affected father with somatic and germline mosaicism for a c.5686G>A FLNA splice mutation to both daughters with strikingly variable clinical manifestation and PNH extent in cerebral MR imaging. Our observations emphasize the importance to consider in genetic counseling and risk assessment the rare genetic constellation of paternal transmission for families with X-linked dominant inherited FLNA-associated PNH. Copyright © 2013 Wiley Periodicals, Inc.

  10. Cardiovascular diseases

    International Nuclear Information System (INIS)

    Kodama, Kazunori

    1992-01-01

    This paper is aimed to discuss the involvement of delayed radiation effects of A-bomb exposure in cardiovascular diseases. First, the relationship between radiation and cardiovascular diseases is reviewed in the literature. Animal experiments have confirmed the relationship between ionizing radiation and vascular lesions. There are many reports which describe ischemic heart disease, cervical and cerebrovascular diseases, and peripheral disease occurring after radiation therapy. The previous A-bomb survivor cohort studies, i.e., the RERF Life Span Study and Adult Health Study, have dealt with the mortality rate from cardiovascular diseases, the prevalence or incidence of cardiovascular diseases, pathological findings, clinical observation of arteriosclerosis, ECG abnormality, blood pressure abnormality, and cardiac function. The following findings have been suggested: (1) A-bomb exposure is likely to be involved in the mortality rate and incidence of ischemic heart disease and cerebrovascular diseases; (2) similarly, the involvement of A-bomb exposure is considered in the prevalence of the arch of aorta; (3) ECG abnormality corresponding to ischemic heart disease may reflect the involvement of A-bomb exposure. To confirm the above findings, further studies are required on the basis of more accurate information and the appropriate number of cohort samples. Little evidence has been presented for the correlation between A-bomb exposure and both rheumatic heart disease and congenital heart disease. (N.K.) 88 refs

  11. Myocardial stress in patients with acute cerebrovascular events

    DEFF Research Database (Denmark)

    Jespersen, C.M.; Hansen, J.F.

    2008-01-01

    Signs of myocardial involvement are common in patients with acute cerebrovascular events. ST segment deviations, abnormal left ventricular function, increased N-terminal pro-brain natriuretic peptide (NT-proBNP), prolonged QT interval, and/or raised troponins are observed in up to one third...

  12. Self and environmental exposures to drinking, smoking, gambling or video game addiction are associated with adult hypertension, heart and cerebrovascular diseases, allergy, self-rated health and happiness: Japanese General Social Survey, 2010.

    Science.gov (United States)

    Shiue, Ivy

    2015-02-15

    It was aimed to study the relationships between addiction behaviors and human health and well-being in East Asians in a national and population-based setting. Data were retrieved from Japanese General Social Survey, 2010. Information on demographics, lifestyle factors, addiction behaviors and self-reported health conditions and well-being in Japanese adults was obtained by household interview. Analysis included chi-square test, logistic and multi-nominal regression modeling. Of 5003 Japanese adults (aged 20-89) included in the study cohort, 13.8%, 14.7%, 4.8% and 5.5% were addicted to drinking, smoking, gambling and video games, respectively while 10.6%, 13.8%, 4.3% and 11.4% were exposed to co-residing family member's drinking, smoking, gambling and video game addiction behaviors, respectively. People who reported addiction to drinking had poor self-rated health, hypertension and food allergy. People who reported addiction to smoking had fair to poor self-rated health, unhappiness, cerebrovascular disease and itchy skin. People who reported addiction to gambling had fair to poor self-rated health and unhappiness. People who reported addiction to video games had poor self-rated health and heart disease. People who were exposed to addiction to drinking, smoking, gambling and video games from co-residing family member(s) also reported hay fever, poor self-rated health and unhappiness. Self and environmental exposures to drinking, smoking, gambling or video game addiction are associated with adult hypertension, heart and cerebrovascular diseases, allergy, self-rated health and happiness. Future public health programs continuing to minimize self and environmental exposures to addiction behaviors tackling health concerns would still be encouraged. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  13. Characterization of Peripheral Immune Cell Subsets in Patients with Acute and Chronic Cerebrovascular Disease: A Case-Control Study

    Directory of Open Access Journals (Sweden)

    Peter Kraft

    2015-10-01

    Full Text Available Immune cells (IC play a crucial role in murine stroke pathophysiology. However, data are limited on the role of these cells in ischemic stroke in humans. We therefore aimed to characterize and compare peripheral IC subsets in patients with acute ischemic stroke/transient ischemic attack (AIS/TIA, chronic cerebrovascular disease (CCD and healthy volunteers (HV. We conducted a case-control study of patients with AIS/TIA (n = 116 or CCD (n = 117, and HV (n = 104 who were enrolled at the University Hospital Würzburg from 2010 to 2013. We determined the expression and quantity of IC subsets in the three study groups and performed correlation analyses with demographic and clinical parameters. The quantity of several IC subsets differed between the AIS/TIA, CCD, and HV groups. Several clinical and demographic variables independently predicted the quantity of IC subsets in patients with AIS/TIA. No significant changes in the quantity of IC subsets occurred within the first three days after AIS/TIA. Overall, these findings strengthen the evidence for a pathophysiologic role of IC in human ischemic stroke and the potential use of IC-based biomarkers for the prediction of stroke risk. A comprehensive description of IC kinetics is crucial to enable the design of targeted treatment strategies.

  14. Clinical approach to inherited metabolic diseases in the neonatal period: a 20-year survey

    NARCIS (Netherlands)

    Saudubray, J. M.; Ogier, H.; Bonnefont, J. P.; Munnich, A.; Lombes, A.; Hervé, F.; Mitchel, G.; Poll The, B.; Specola, N.; Parvy, P.

    1989-01-01

    Every newborn with unexplained neurological deterioration, ketosis, metabolic acidosis or hypoglycaemia should be suspected of having an inherited error of intermediary metabolism. Many of these conditions can be diagnosed clinically with the aid of simple laboratory investigations. Since a

  15. Plausible mechanisms explaining the association of periodontitis with cardiovascular diseases

    NARCIS (Netherlands)

    Loos, B.G.; Teeuw, W.J.; Nicu, E.A.; Lynge Petersen, A.M.

    2016-01-01

    The association between periodontitis and cardiovascular diseases is now well established. Cardiovascular diseases include atherosclerosis, coronary heart (artery) disease, cerebrovascular disease, and peripheral artery disease. Atherosclerosis is the underlying pathology of cardiovascular diseases.

  16. Inheritance of resistance to cotton blue disease Herança da resistência do algodoeiro à doença-azul

    Directory of Open Access Journals (Sweden)

    Osmério Pupim Junior

    2008-05-01

    Full Text Available The objective of this work was to determine the inheritance of cotton blue disease resistance by cotton plants. Populations derived from the CD 401 and Delta Opal resistant varieties were evaluated, through a greenhouse test with artificial inoculation by viruliferous aphids. Cotton blue disease resistance is conditioned by one dominant gene, both in CD 401 and Delta Opal varieties.O objetivo deste trabalho foi determinar a herança da resistência do algodoeiro à doença-azul. Populações derivadas das variedades resistentes CD 401 e Delta Opal foram avaliadas em casa de vegetação, por meio da inoculação de pulgões virulíferos. A resistência à doença-azul do algodoeiro é condicionada por um gene dominante, tanto em 'DC 401' quanto em 'Delta Opal'.

  17. Mortalidad intrahospitalaria por accidente cerebrovascular

    OpenAIRE

    Federico Rodríguez Lucci; Virginia Pujol Lereis; Sebastián Ameriso; Guillermo Povedano; María F. Díaz; Alejandro Hlavnicka; Néstor A. Wainsztein; Sebastián F. Ameriso

    2013-01-01

    La mortalidad global por accidente cerebrovascular (ACV) ha disminuido en las últimas tres décadas, probablemente debido a un mejor control de los factores de riesgo vascular. La mortalidad hospitalaria por ACV ha sido tradicionalmente estimada entre 6 y 14% en la mayoría de las series comunicadas. Sin embargo, los datos de ensayos clínicos recientes sugieren que esta cifra sería sustancialmente menor. Se revisaron datos de pacientes internados con diagnóstico de ACV del Banco de Datos de Str...

  18. Disease-specific hematopoietic stem cell transplantation in children with inherited bone marrow failure syndromes.

    Science.gov (United States)

    Li, Qian; Luo, Changying; Luo, Chengjuan; Wang, Jianmin; Li, Benshang; Ding, Lixia; Chen, Jing

    2017-08-01

    Hematopoietic stem cell transplantation (HSCT) using an optimized conditioning regimen is essential for the long-term survival of patients with inherited bone marrow failure syndromes (IBMFS). We report HSCT in 24 children with Fanconi anemia (FA, n = 12), Diamond-Blackfan anemia (DBA, n = 7), and dyskeratosis congenita (DC, n = 5) from a single HSCT center. The graft source was peripheral blood stem cells (n = 19) or cord blood stem cells (n = 5). FA and DC patients received reduced-intensity conditioning, while DBA patients had myeloablative conditioning. The median numbers of infused mononuclear cells and CD34+ cells were 14.20 × 10 8 /kg and 4.3 × 10 6 /kg, respectively. The median time for neutrophil and platelet recovery was 12 and 18 days, respectively. Complete donor engraftment was achieved in 23 of 24 patients. There was one primary graft failure. During a median follow-up of 27.5 months (range, 2-130 months), the overall survival in all patients was 95.8%. The incidence of grade II-III acute graft versus host disease (GvHD) and chronic GvHD was 29.2% and 16.7%, respectively. We conclude that HSCT can be a curative option for patients with IBMFS. Modification of the conditioning regimen based on the type of disease may lead to encouraging long-term outcomes.

  19. Cancer resistance as an acquired and inheritable trait

    DEFF Research Database (Denmark)

    Koch, Janne; Hau, Jann; Jensen, Henrik Elvang

    2014-01-01

    AIM: To induce cancer resistance in wild-type mice and detect if the resistance could be inherited to the progeny of the induced resistant mice. Furthermore to investigate the spectrum and immunology of this inherited cancer resistance. MATERIALS AND METHODS: Resistance to with live S180 cancer c...... of the resistance is unknown but may involve epigenetic mechanisms. Other examples of inheritability of acquired phenotypic changes exist but, to our knowledge, this is the first demonstration of acquired, inherited cancer resistance.......AIM: To induce cancer resistance in wild-type mice and detect if the resistance could be inherited to the progeny of the induced resistant mice. Furthermore to investigate the spectrum and immunology of this inherited cancer resistance. MATERIALS AND METHODS: Resistance to with live S180 cancer...... cells in BALB/c mice was induced by immunization with inactivated S180 cancer cells. The immunization was performed by either frozen/thawed or irradiated cancer cells or cell-free ascitic fluid (CFAF). RESULTS: In all instances the induced resistance was demonstrated to be inheritable. The phenotype...

  20. The hidden Niemann-Pick type C patient: clinical niches for a rare inherited metabolic disease.

    Science.gov (United States)

    Hendriksz, Christian J; Anheim, Mathieu; Bauer, Peter; Bonnot, Olivier; Chakrapani, Anupam; Corvol, Jean-Christophe; de Koning, Tom J; Degtyareva, Anna; Dionisi-Vici, Carlo; Doss, Sarah; Duning, Thomas; Giunti, Paola; Iodice, Rosa; Johnston, Tracy; Kelly, Dierdre; Klünemann, Hans-Hermann; Lorenzl, Stefan; Padovani, Alessandro; Pocovi, Miguel; Synofzik, Matthis; Terblanche, Alta; Then Bergh, Florian; Topçu, Meral; Tranchant, Christine; Walterfang, Mark; Velten, Christian; Kolb, Stefan A

    2017-05-01

    Niemann-Pick disease type C (NP-C) is a rare, inherited neurodegenerative disease of impaired intracellular lipid trafficking. Clinical symptoms are highly heterogeneous, including neurological, visceral, or psychiatric manifestations. The incidence of NP-C is under-estimated due to under-recognition or misdiagnosis across a wide range of medical fields. New screening and diagnostic methods provide an opportunity to improve detection of unrecognized cases in clinical sub-populations associated with a higher risk of NP-C. Patients in these at-risk groups ("clinical niches") have symptoms that are potentially related to NP-C, but go unrecognized due to other, more prevalent clinical features, and lack of awareness regarding underlying metabolic causes. Twelve potential clinical niches identified by clinical experts were evaluated based on a comprehensive, non-systematic review of literature published to date. Relevant publications were identified by targeted literature searches of EMBASE and PubMed using key search terms specific to each niche. Articles published in English or other European languages up to 2016 were included. Several niches were found to be relevant based on available data: movement disorders (early-onset ataxia and dystonia), organic psychosis, early-onset cholestasis/(hepato)splenomegaly, cases with relevant antenatal findings or fetal abnormalities, and patients affected by family history, consanguinity, and endogamy. Potentially relevant niches requiring further supportive data included: early-onset cognitive decline, frontotemporal dementia, parkinsonism, and chronic inflammatory CNS disease. There was relatively weak evidence to suggest amyotrophic lateral sclerosis or progressive supranuclear gaze palsy as potential niches. Several clinical niches have been identified that harbor patients at increased risk of NP-C.

  1. Effect of respiratory function training on respiratory function of patients with severe cerebrovascular disease

    Directory of Open Access Journals (Sweden)

    Ming GUO

    2017-07-01

    Full Text Available Objective To investigate the effect of respiratory function training on respiratory function and conscious state of patients with severe cerebrovascular disease (SCVD.  Methods A total of 27 patients with SCVD were divided into control group (N = 17 and observation group (N = 10. Control group received routine drug and rehabilitation treatment, and observation group was added respiratory function training based on routine treatment. The respiratory rate, tidal volume (TV, heart rate, blood pressure and artery oxygen saturation (SaO2 of patients were monitored by breathing machine before and after 4-week treatment. Meanwhile, arterial blood gas analysis was used to detect arterial partial pressure of oxygen (PaO2, oxygenation index, partial pressure of carbon dioxide (PaCO2 and pH value. At the same time, Glasgow Coma Scale (GCS was used to evaluate the conscious state of patients.  Results All patients successfully completed 4-week rehabilitation training, without asphyxia, arrhythmia or other adverse events. Compared with before training, the respiratory rate (P = 0.006 and pH value (P = 0.010 were significantly decreased, while SaO2 (P = 0.001, oxygenation index (P = 0.000 and GCS scores (P = 0.004, 0.017 were significantly increased in both groups of patients after training. There was no statistically significant difference between 2 groups on respiratory function indexes and GCS scores after training (P > 0.05, for all. Conclusions Respiratory function training did not significantly improve the respiratory function and conscious state of patients with SCVD, yet to be further studied. Randomized controlled clinical trials with larger, layered samples and long-term prognosis observation are needed. Examination method of respiratory function of SCVD patients is also a topic to be explored.  DOI: 10.3969/j.issn.1672-6731.2017.04.007

  2. Inheritance of tristyly in Oxalis tuberosa (Oxalidaceae).

    Science.gov (United States)

    Trognitz, B R; Hermann, M

    2001-05-01

    Frequencies of floral morphs in progenies obtained from a complete set of diallelic crosses among three accessions of tristylous, octoploid oca (Oxalis tuberosa) were used for a Mendelian analysis of floral morph inheritance. The frequencies observed had the best fit to a model of tetrasomic inheritance with two diallelic factors, S, s and M, m, with S being epistatic over M. No explanation could be found for the unexpected formation of a small percentage of short-styled individuals in crosses between the mid-styled and the long-styled parent. For the acceptance of models of disomic and octosomic inheritance several additional assumptions would have to be made and therefore these modes of inheritance are less likely. Dosage-dependent inheritance of floral morph was rejected. Only a small frequency (36%) of the cross progenies flowered, in contrast to the greater propensity for flowering of O. tuberosa accessions held at gene banks.

  3. Wilson’s Disease: An Inherited, Silent, Copper Intoxication Disease

    Directory of Open Access Journals (Sweden)

    Uta Merle

    2016-07-01

    Full Text Available Wilson’s disease is a rare, autosomal recessive, genetic, copper overload disease, which evokes multiple motor or neuropsychiatric symptoms and liver disease. It is the consequence of a variety of different mutations affecting the ATP7B gene. This gene encodes for a class IB, P-type, copper-transporting ATPase, which is located in the trans-Golgi network of the liver and brain, and mediates the excretion of excess copper into the bile. When functionally inactive, the excess copper is deposited in the liver, brain, and other tissues. Free copper induces oxidative stress, lipid peroxidation, and lowers the apoptotic threshold of the cell. The symptoms in affected persons can vary widely and usually appear between the ages of 6 years and 20 years, but there are also cases in which the disease manifests in advanced age. In this review, we discuss the considerations in diagnosis, clinical management, and treatment of Wilson’s disease. In addition, we highlight experimental efforts that address the pathogenesis of Wilson’s disease in ATP7B deficient mice, novel analytical techniques that will improve the diagnosis at an early stage of disease onset, and treatment results with copper-chelating agents.

  4. SWJ:39-42 Inheritance of Pod Colour in Cowpea INHERITANCE

    African Journals Online (AJOL)

    Dr. Ahmed

    two additional pod pigmentation genes; one conditions green pods ... Hybridization experiments were conducted in the screen house to study the pattern of inheritance of ... to breeders because its understanding could lead to the development.

  5. Sickle Cell Disease with Cyanotic Congenital Heart Disease: Long-Term Outcomes in 5 Children.

    Science.gov (United States)

    Iannucci, Glen J; Adisa, Olufolake A; Oster, Matthew E; McConnell, Michael; Mahle, William T

    2016-12-01

    Sickle cell disease is a risk factor for cerebrovascular accidents in the pediatric population. This risk is compounded by hypoxemia. Cyanotic congenital heart disease can expose patients to prolonged hypoxemia. To our knowledge, the long-term outcome of patients who have combined sickle cell and cyanotic congenital heart disease has not been reported. We retrospectively reviewed patient records at our institution and identified 5 patients (3 girls and 2 boys) who had both conditions. Their outcomes were uniformly poor: 4 died (age range, 12 mo-17 yr); 3 had documented cerebrovascular accidents; and 3 developed ventricular dysfunction. The surviving patient had developmental delays. On the basis of this series, we suggest mitigating hypoxemia, and thus the risk of stroke, in patients who have sickle cell disease and cyanotic congenital heart disease. Potential therapies include chronic blood transfusions, hydroxyurea, earlier surgical correction to reduce the duration of hypoxemia, and heart or bone marrow transplantation.

  6. Cerebrovascular disease in neonates: evaluation of four cases Doença cerebrovascular em recém nascidos: avaliação de quatro casos

    Directory of Open Access Journals (Sweden)

    MARIA VALERIANA LEME DE MOURA-RIBEIRO

    1999-03-01

    Full Text Available The clinical and neurological study in four neonates infants with cerebral infarction are reported. The purpose of this study is to call attention for the clinical course, cranial ultrasound, computed tomography and laboratories tests, in order to evaluate the neurological sequelae. A careful evaluation has be taken in order to determine the significance of clinical and laboratory tests for syndromic, topographic and etiologic diagnosis after one year ambulatorial follow-up.Apresentamos o estudo clínico e neurológico de quatro recém nascidos com diagnóstico de doença cerebrovascular. A finalidade do presente estudo é chamar a atenção para o reconhecimento clínico e a valorização dos procedimentos laboratoriais para o diagnóstico sindrômico, topográfico e etiológico, bem como para avaliar as sequelas após um ano de acompanhamento ambulatorial.

  7. Inheritance

    OpenAIRE

    Lippert, Sandra

    2013-01-01

    In ancient Egypt inheritance was conveyed either through the legal order of succession, favoring sonsover daughters, children over siblings, and older over younger, or through written declarations thatallowed for individualized arrangements. Adoption was the common means by which a childlessperson could acquire an heir. The initial tendency towards a sole heir (preferably the eldest son) wasreplaced by the division of parental property among all children, although the eldest son continued top...

  8. Occupational therapy for patients with chronic diseases: CVA, rheumatoid arthritis and progressive diseases of the central nervous system.

    NARCIS (Netherlands)

    Driessen, M.J.; Dekker, J.; Lankhorst, G.; Zee, J. van der

    1997-01-01

    A substantial proportion of the patients treated by occupational therapists have a chronic disease. The aim of this study was to describe the outlines of occupational therapy treatment for three specific groups of chronic diseases: progressive neurological diseases, cerebrovascular accident and

  9. Genotype-phenotype correlation in FMF patients: A "non classic" recessive autosomal or "atypical" dominant autosomal inheritance?

    Science.gov (United States)

    Procopio, V; Manti, S; Bianco, G; Conti, G; Romeo, A; Maimone, F; Arrigo, T; Cutrupi, M C; Salpietro, C; Cuppari, C

    2018-01-30

    Uncertainty remains on the pathogenetic mechanisms, model of inheritance as well as genotype-phenotype correlation of FMF disease. To investigate the impact of genetic factors on the FMF phenotype and the disease inheritance model. A total of 107 FMF patients were enrolled. Patients were diagnosed clinically. All patients underwent genetic analysis of the FMF locus on 16p13.3. 9 distinct mutations were detected. Specifically, the 85.98% of patients showed a heterozygous genotype. The most common genotypes were p.Met680Ile/wt and p.Met694Val/wt. The most frequent clinical findings were fever, abdominal pain, joint pain, thoracic pain, and erysipelas-like erythema. Analysis of clinical data did not detect any significant difference in clinical phenotype among heterozygous, homozygous as well as compound homozygous subjects, further supporting the evidence that, contrary to the recessive autosomal inheritance, heterozygous patients fulfilled the criteria of clinical FMF. Moreover, subjects with p.Met694Val/wt and p.Met680Ile/wt genotype reported the most severe clinical phenotype. p.Ala744Ser/wt, p.Glu148Gln/Met680Ile, p.Met680Ile/Met680Ile, p.Met680Ile/Met694Val, p.Pro369Ser/wt, p.Met694Ile/wt, p.Glu148Gln/Glu148Gln, p.Lys695Arg/wt resulted in 100% pathogenicity. The existence of a "non classic" autosomal recessive inheritance as well as of an "atypical" dominant autosomal inheritance with incomplete penetrance and variable expressivity cannot be excluded in FMF. Copyright © 2017 Elsevier B.V. All rights reserved.

  10. [Experience of Regional Vascular Centre in assisting patients with severe cerebrovascular accidents in Novosibirsk].

    Science.gov (United States)

    Doronin, B M; Marushak, A A; Popova, T F; Gribacheva, I A; Petrova, E V

    2016-01-01

    The analysis of the work of the neurological department of the Novosibirsk regional vascular center of City Clinical Hospital #1 for the period from 2013 to 2015 was done. We analyzed the annual reports of the regional vascular center, dynamics of cerebrovascular disease patterns, lethality, about the provision of medical care to patients with stroke, the use of high-tech methods of diagnosis and treatment. Ascertain the progress achieved and the perspectives of further improving the quality of care to patients with stroke due to wider use of methods of rehabilitation in the acute stage of stroke.

  11. Deaths from cerebrovascular diseases correlated to month of birth: elevated risk of death from subarachnoid hemorrhage among summer-born

    Science.gov (United States)

    Nonaka, K.; Imaizumi, Y.

    It has been suggested that maternal nutrition, and fetal and infant growth have an important effect on the risk of cardiovascular disease in adult life. We investigated the population-based distribution of deaths from cerebrovascular diseases (ICD9 codes 430, 431, or 434) in Japan in 1986-1994 as a function of birth month, by examining death-certificate records. For a total of 853 981 people born in the years 1900-1959, the distribution of the number of deaths according to the month of birth was compared with the distribution expected from the monthly numbers of all births for each sex and for the corresponding birth decade. For those born between 1920 and 1949, there were significant discrepancies between the actual numbers of deaths from subarachnoid hemorrhage (ICD9 430) and the numbers expected, and these differences were related to the month of birth. Those born in summer, June-September, consistently had an elevated risk of death, particularly men, where the excess risk was 8%-23%. This tendency was also observed, less distinctly but significantly, for deaths from intracerebral hemorrhage (ICD9 431), but was not observed for those dying from occlusion of the cerebral arteries (ICD9 434). The observation that the risk of dying from subarachnoid hemorrhage was more than 10% higher among those born in the summer implies that at least one in ten deaths from subarachnoid hemorrhage has its origin at a perinatal stage. Although variations in hypertension in later life, which could possibly be ''programmed'' during the intra-uterine stages, could be an explanation for this observation, the disease-specific nature of the observation suggests the involvement of aneurysm formation, which is a predominant cause of subarachnoid hemorrhage.

  12. A large, switchable optical clearing skull window for cerebrovascular imaging

    Science.gov (United States)

    Zhang, Chao; Feng, Wei; Zhao, Yanjie; Yu, Tingting; Li, Pengcheng; Xu, Tonghui; Luo, Qingming; Zhu, Dan

    2018-01-01

    Rationale: Intravital optical imaging is a significant method for investigating cerebrovascular structure and function. However, its imaging contrast and depth are limited by the turbid skull. Tissue optical clearing has a great potential for solving this problem. Our goal was to develop a transparent skull window, without performing a craniotomy, for use in assessing cerebrovascular structure and function. Methods: Skull optical clearing agents were topically applied to the skulls of mice to create a transparent window within 15 min. The clearing efficacy, repeatability, and safety of the skull window were then investigated. Results: Imaging through the optical clearing skull window enhanced both the contrast and the depth of intravital imaging. The skull window could be used on 2-8-month-old mice and could be expanded from regional to bi-hemispheric. In addition, the window could be repeatedly established without inducing observable inflammation and metabolic toxicity. Conclusion: We successfully developed an easy-to-handle, large, switchable, and safe optical clearing skull window. Combined with various optical imaging techniques, cerebrovascular structure and function can be observed through this optical clearing skull window. Thus, it has the potential for use in basic research on the physiopathologic processes of cortical vessels. PMID:29774069

  13. Prognostic value of myocardial perfusion single photon emission computed tomography for major adverse cardiac cerebrovascular and renal events in patients with chronic kidney disease: results from first year of follow-up of the Gunma-CKD SPECT multicenter study

    Energy Technology Data Exchange (ETDEWEB)

    Kasama, Shu [Gunma University Graduate School of Medicine, Department of Medicine and Biological Science (Cardiovascular Medicine), Maebashi, Gunma (Japan); Cardiovascular Hospital of Central Japan (Kitakanto Cardiovascular Hospital), Department of Cardiovascular Medicine, Gunma (Japan); Toyama, Takuji [Department of Cardiovascular Medicine, Gunma Prefectural Cardiovascular Center, Maebashi (Japan); Sato, Makito [Gunma University Graduate School of Medicine, Department of Medicine and Biological Science (Cardiovascular Medicine), Maebashi, Gunma (Japan); Tatebayashi Kosei Hospital, Department of Internal Medicine, Gunma (Japan); Sano, Hirokazu [Gunma University Graduate School of Medicine, Department of Medicine and Biological Science (Cardiovascular Medicine), Maebashi, Gunma (Japan); Isesaki Municipal Hospital, Department of Cardiovascular Medicine, Isesaki (Japan); Ueda, Tetsuya [Fujioka General Hospital, Division of Cardiology, Fujioka (Japan); Sasaki, Toyoshi [Takasaki General Medical Center, Division of Cardiology, Takasaki (Japan); Nakahara, Takehiro; Kurabayashi, Masahiko [Gunma University Graduate School of Medicine, Department of Medicine and Biological Science (Cardiovascular Medicine), Maebashi, Gunma (Japan); Higuchi, Tetsuya; Tsushima, Yoshito [Gunma University Graduate School of Medicine, Department of Diagnostic Radiology and Nuclear Medicine, Maebashi (Japan)

    2016-02-15

    Patients with chronic kidney disease (CKD) have an increased risk of adverse cardio-cerebrovascular events. We examined whether stress myocardial perfusion single photon emission computed tomography (SPECT) provides reliable prognostic markers for these patients. In this multicenter, prospective cohort trial from the Gunma-CKD SPECT study protocol, patients with CKD [estimated glomerular filtration rate (eGFR) < 60 min/ml per 1.73 m{sup 2}] undergoing stress {sup 99m}Tc-tetrofosmin SPECT for suspected or possible ischemic heart disease were initially followed for 1 year, with the following study endpoints: primary, the occurrence of cardiac deaths (CDs), and secondary, major adverse cardiac, cerebrovascular, and renal events (MACCREs). The summed stress score (SSS), summed rest score, and summed difference score (SDS) were estimated with the standard 17-segment, 5-point scoring model. Left ventricular end-diastolic volume, end-systolic volume (ESV), and ejection fraction were measured using electrocardiogram-gated SPECT. During the first year of follow-up, 69 of 299 patients experienced MACCREs (CD, n = 7; non-fatal myocardial infarction, n = 3; hospitalization for heart failure, n = 13; cerebrovascular accident, n = 1; need for revascularization, n = 38; and renal failure, i.e., hemodialysis initiation, n = 7). ESV and SSS were associated with CDs (p < 0.05), and eGFR and SDS were associated with MACCREs (p < 0.05), in multivariate logistic analysis. Patients with high ESV and high SSS had a significantly higher CD rate during the first year than the other CKD patient subgroups (p < 0.05). Patients with low eGFR and high SDS had a significantly higher MACCRE rate than the other subgroups (p < 0.05). Myocardial perfusion SPECT can provide reliable prognostic markers for patients with CKD. (orig.)

  14. Prognostic value of myocardial perfusion single photon emission computed tomography for major adverse cardiac cerebrovascular and renal events in patients with chronic kidney disease: results from first year of follow-up of the Gunma-CKD SPECT multicenter study

    International Nuclear Information System (INIS)

    Kasama, Shu; Toyama, Takuji; Sato, Makito; Sano, Hirokazu; Ueda, Tetsuya; Sasaki, Toyoshi; Nakahara, Takehiro; Kurabayashi, Masahiko; Higuchi, Tetsuya; Tsushima, Yoshito

    2016-01-01

    Patients with chronic kidney disease (CKD) have an increased risk of adverse cardio-cerebrovascular events. We examined whether stress myocardial perfusion single photon emission computed tomography (SPECT) provides reliable prognostic markers for these patients. In this multicenter, prospective cohort trial from the Gunma-CKD SPECT study protocol, patients with CKD [estimated glomerular filtration rate (eGFR) < 60 min/ml per 1.73 m 2 ] undergoing stress 99m Tc-tetrofosmin SPECT for suspected or possible ischemic heart disease were initially followed for 1 year, with the following study endpoints: primary, the occurrence of cardiac deaths (CDs), and secondary, major adverse cardiac, cerebrovascular, and renal events (MACCREs). The summed stress score (SSS), summed rest score, and summed difference score (SDS) were estimated with the standard 17-segment, 5-point scoring model. Left ventricular end-diastolic volume, end-systolic volume (ESV), and ejection fraction were measured using electrocardiogram-gated SPECT. During the first year of follow-up, 69 of 299 patients experienced MACCREs (CD, n = 7; non-fatal myocardial infarction, n = 3; hospitalization for heart failure, n = 13; cerebrovascular accident, n = 1; need for revascularization, n = 38; and renal failure, i.e., hemodialysis initiation, n = 7). ESV and SSS were associated with CDs (p < 0.05), and eGFR and SDS were associated with MACCREs (p < 0.05), in multivariate logistic analysis. Patients with high ESV and high SSS had a significantly higher CD rate during the first year than the other CKD patient subgroups (p < 0.05). Patients with low eGFR and high SDS had a significantly higher MACCRE rate than the other subgroups (p < 0.05). Myocardial perfusion SPECT can provide reliable prognostic markers for patients with CKD. (orig.)

  15. Non-ionizing radiofrequency electromagnetic waves traversing the head can be used to detect cerebrovascular autoregulation responses

    Science.gov (United States)

    Oziel, M.; Hjouj, M.; Gonzalez, C. A.; Lavee, J.; Rubinsky, B.

    2016-02-01

    Monitoring changes in non-ionizing radiofrequency electromagnetic waves as they traverse the brain can detect the effects of stimuli employed in cerebrovascular autoregulation (CVA) tests on the brain, without contact and in real time. CVA is a physiological phenomenon of importance to health, used for diagnosis of a number of diseases of the brain with a vascular component. The technology described here is being developed for use in diagnosis of injuries and diseases of the brain in rural and economically underdeveloped parts of the world. A group of nine subjects participated in this pilot clinical evaluation of the technology. Substantial research remains to be done on correlating the measurements with physiology and anatomy.

  16. Non-traditional inheritance

    International Nuclear Information System (INIS)

    Hall, J.G.

    1992-01-01

    In the last few years, several non-traditional forms of inheritance have been recognized. These include mosaicism, cytoplasmic inheritance, uniparental disomy, imprinting, amplification/anticipation, and somatic recombination. Genomic imprinting (GI) is the dependence of the phenotype on the sex of the transmitting parent. GI in humans seems to involve growth, behaviour, and survival in utero. The detailed mechanism of genomic imprinting is not known, but it seems that some process is involved in turning a gene off; this probably involves two genes, one of which produces a product that turns a gene off, and the gene that is itself turned off. The process of imprinting (turning off) may be associated with methylation. Erasure of imprinting can occur, and seems to be associated with meiosis. 10 refs

  17. Side differences in cerebrovascular accidents after cardiac surgery: a statistical analysis of neurologic symptoms and possible implications for anatomic mechanisms of aortic particle embolization.

    Science.gov (United States)

    Boivie, Patrik; Edström, Cecilia; Engström, Karl Gunnar

    2005-03-01

    Aortic manipulation and particle embolization have been identified to cause cerebrovascular accidents in cardiac surgery. Recent data suggest that left-hemispheric cerebrovascular accident (right-sided symptoms) is more common, and this has been interpreted as being caused by aortic cannula stream jets. Our aim was to evaluate symptoms of cerebrovascular accident and side differences from a retrospective statistical analysis. During a 2-year period, 2641 consecutive cardiac surgery cases were analyzed. Patients positive for cerebrovascular accident were extracted from a database designed to monitor clinical symptoms. A protocol was used to confirm symptom data with the correct diagnosis in patient records. Patients were subdivided into 3 groups: control, immediate cerebrovascular accident, and delayed cerebrovascular accident. Among pooled patients, immediate and delayed cerebrovascular accidents were 3.0% and 0.9%, respectively. The expected predisposing factors behind immediate cerebrovascular accidents were significant, although the type of operation affected this search. Aortic quality was a strong predictor ( P cerebrovascular accident was unaffected by surgery group. Left-sided symptoms of immediate cerebrovascular accident were approximately twice as frequent ( P = .016) as on the contralateral side. This phenomenon was observed for pooled patients and for isolated coronary bypass procedures (n = 1882; P = .025). Immediate cerebrovascular accident and aortic calcifications are linked. The predominance of left-sided symptoms may suggest that aortic manipulation and anatomic mechanisms in the aortic arch are more likely to cause cerebrovascular accidents than effects from cannula stream jets.

  18. Evaluation of 99mTc-HM-PAO thigh accumulation in patients with cerebro-vascular disease

    International Nuclear Information System (INIS)

    Nishigaki, Hiroshi; Adachi, Itaru; Komori, Tsuyoshi; Tatsu, Yoshimitsu; Hisada, Youichi; Sueyoshi, Kouzou; Narabayashi, Isamu

    1993-01-01

    Technetium-99m d,l-hexamethyl-propyleneamine oxime ( 99m Tc-HM-PAO) cerebral SPECT and whole body scintigraphy (WBS) were performed in 5 patients without cerebro-vascular disease (CVD) (Group 1), 31 patients with CVD but not hemiparesis (Group 2) and 18 patients with CVD and hemiparesis (Group 3). Four ROIs were drawn manually around the whole body (WB), brain (Br), right and left thigh (Th). We calculated some ratios: the total counts in the brain over the total counts in the whole body (Br/WB), the total counts in the thigh over