scholarly journals Moderate Hyperhomocysteinemia in Patients with Huntington's Disease

Pteridines ◽  
2002 ◽  
Vol 13 (4) ◽  
pp. 121-125 ◽  
Author(s):  
Andreas Laich ◽  
Friedrich Leblhuber ◽  
Bernhard Widner ◽  
Barbara Frick ◽  
Kurt Jellinger ◽  
...  
Keyword(s):  
Risk Factor ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Immune Activation ◽  
Independent Risk Factor ◽  
Control Group ◽  
Healthy Controls ◽  
Healthy Elderly ◽  
Serum Homocysteine ◽  
Vascular Type

Abstract Hyperhomocysteinemia is considered to be an independent risk factor for cardiovascular diseases and atherosclerosis. Also patients with dementia, either of Alzheimer's or of vascular type, may present with elevated homocysteine levels. All these disorders are linked with older age and since hyperhomocysteinemia is also frequent in the healthy elderly, we were interested to determine homocysteine concentrations in a younger population of demented patients suffering from Huntington's disease. In 15 patients with Huntington's disease and in a control group of similar age, serum homocysteine concentrations were measured and changes were compared to concentrations of folate and neopterin, the latter being an indicator of immune activation. A subgroup of patients with Huntington's disease presented with elevated homocysteine concentrations compared to healthy controls of similar age. Moderate hyperhomocysteinemia was related to lower folate concentrations and also to higher neopterin levels which indicate increased immune activation. The correlation of homocysteine with neopterin concentrations points to a possible relationship between the development of hyperhomocysteinemia and immune activation in the patient

scholarly journals Study on Homocysteinemia as a Risk Factor of Ischemic Stroke

2021 ◽  
Vol 34 (1) ◽  
pp. 33-39
Author(s):  
Md Amjad Hossain Pramanik ◽  
Achinta Kumar Mallick ◽  
Mukul Kumar Sarkar ◽  
SM Emdadul Haque ◽  
Md Raseul Kabir ◽  
...  
Keyword(s):  
Risk Factors ◽  
Risk Factor ◽  
Ischemic Stroke ◽  
Independent Risk Factor ◽  
Homocysteine Level ◽  
Control Group ◽  
Age Group ◽  
Healthy Individuals ◽  
Serum Homocysteine ◽  
And Control

Despite recent advances, only two-third of all strokes can be attributed to known causal risk factors. Homocysteine (tHcy), a sulfur-containing amino acid, is now considered to be an important risk factor for vascular diseases, along with the established risk factors like hyperlipidemia, hypertension, diabetes mellitus, and smoking. Elevated homocysteine levels play a causal role in the pathogenesis of atherosclerosis, thromboembolism and vascular endothelial dysfunction with an increased incidence of ischemic stroke.  This study aimed to find out the association of hyperhomocysteinemia with ischemic stroke. A total of 100 subjects were included in this study, 50 were ischemic stroke patients enrolled as case, and 50 were normal healthy individuals enrolled as control. Serum homocysteine level was measured in both case and control groups. The comparison was made in both groups regarding other common risk factors like diabetes mellitus, hypertension, smoking, dyslipidemia, family history, etc.  Among 100 patients, 50 had ischemic stroke and 50 were healthy individuals. In this study, out of all patients, abnormal serum homocysteine level was found in 32% of cases and 12% of controls. The mean (±SD) serum homocysteine level was found 16.50±13.86 μmole/L in cases and 9.46±3.49 μmole /L in the control group. Significant (p<0.05) difference was found between the case and the control. The incidence of hyperhomocysteinemia is higher in ischemic stroke cases than that in age-sex-matched healthy controls. In our study, serum homocysteine was high in both younger age group patients (16.65±14.55 μmole/L vs. 9.52±3.19 μmole/L) and older age group patients (16.33±9.87 vs. 9.35±3.97 μmole/L,) in case and control group respectively. Significant (p<0.05) difference was found between the case and the control. Multiple logistic regression analysis showed that abnormal serum homocysteine is an independent risk factor of ischemic stroke. So we conclude that hyperhomocysteinemia is an important and independent risk factor for the development of ischemic stroke. Hypertension and smoking are important contributory to elevated serum homocysteine. TAJ 2021; 34: No-1: 33-39

Increased lipoprotein (a) levels as an independent risk factor for venous thromboembolism

Blood ◽  
2000 ◽  
Vol 96 (10) ◽  
pp. 3364-3368 ◽  
Author(s):  
Mario von Depka ◽  
Ulrike Nowak-Göttl ◽  
Roswith Eisert ◽  
Christian Dieterich ◽  
Monika Barthels ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Protein C ◽  
Independent Risk Factor ◽  
Elevated Serum ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Healthy Controls ◽  
Lipoprotein A

Elevation of serum lipoprotein (a) (Lp[a]) is a known risk factor predisposing to cardiovascular and cerebrovascular disease. However, little is known about the role of increased Lp(a) in venous thromboembolism (VTE). This study evaluated the role of Lp(a) among a panel of established hereditary thrombogenic defects in patients with VTE. A total of 685 consecutive patients with at least one episode of VTE and 266 sex- and age-matched healthy controls were screened with regard to activated protein C resistance, protein C, protein S, and antithrombin deficiency, elevated serum levels of Lp(a), and the factor V G1691A, MTHFR C677T, and prothrombin G20210A mutations. Elevated Lp(a) levels above 30 mg/dL were found in 20% of all patients, as compared to 7% among healthy controls (P < .001, odds ratio [OR] 3.2, 95% confidence interval [CI], 1.9-5.3). The coexistence of FV G1691A and elevated Lp(a) was significantly more prevalent among patients with VTE than in the control group (7% versus 0.8%; P < .001, OR 9.8, 95% CI, 2.4-40.7). No other established prothrombotic risk factor was found to be significantly combined with increased Lp(a). These data suggest that Lp(a) concentrations greater than 30 mg/dL are a frequent and independent risk factor for VTE. Furthermore, elevated Lp(a) levels might contribute to the penetrance of thromboembolic disease in subjects being affected by other prothrombotic defects, such as FV G1691A mutation.

Increased lipoprotein (a) levels as an independent risk factor for venous thromboembolism

Blood ◽  
2000 ◽  
Vol 96 (10) ◽  
pp. 3364-3368 ◽  
Author(s):  
Mario von Depka ◽  
Ulrike Nowak-Göttl ◽  
Roswith Eisert ◽  
Christian Dieterich ◽  
Monika Barthels ◽  
...  
Keyword(s):  
Risk Factor ◽  
Venous Thromboembolism ◽  
Protein C ◽  
Independent Risk Factor ◽  
Elevated Serum ◽  
Prothrombin G20210a ◽  
Control Group ◽  
Healthy Controls ◽  
Lipoprotein A

Abstract Elevation of serum lipoprotein (a) (Lp[a]) is a known risk factor predisposing to cardiovascular and cerebrovascular disease. However, little is known about the role of increased Lp(a) in venous thromboembolism (VTE). This study evaluated the role of Lp(a) among a panel of established hereditary thrombogenic defects in patients with VTE. A total of 685 consecutive patients with at least one episode of VTE and 266 sex- and age-matched healthy controls were screened with regard to activated protein C resistance, protein C, protein S, and antithrombin deficiency, elevated serum levels of Lp(a), and the factor V G1691A, MTHFR C677T, and prothrombin G20210A mutations. Elevated Lp(a) levels above 30 mg/dL were found in 20% of all patients, as compared to 7% among healthy controls (P &lt; .001, odds ratio [OR] 3.2, 95% confidence interval [CI], 1.9-5.3). The coexistence of FV G1691A and elevated Lp(a) was significantly more prevalent among patients with VTE than in the control group (7% versus 0.8%; P &lt; .001, OR 9.8, 95% CI, 2.4-40.7). No other established prothrombotic risk factor was found to be significantly combined with increased Lp(a). These data suggest that Lp(a) concentrations greater than 30 mg/dL are a frequent and independent risk factor for VTE. Furthermore, elevated Lp(a) levels might contribute to the penetrance of thromboembolic disease in subjects being affected by other prothrombotic defects, such as FV G1691A mutation.

scholarly journals Association between apolipoprotein gene polymorphisms and hyperlipidemia: a meta-analysis

2021 ◽  
Vol 22 (1) ◽  
Author(s):  
Xiao-Ning Zhao ◽  
Quan Sun ◽  
You-Qin Cao ◽  
Xiao Ran ◽  
Yu Cao
Keyword(s):  
Risk Factor ◽  
Cerebrovascular Disease ◽  
Gene Polymorphisms ◽  
Meta Analysis ◽  
Control Group ◽  
Case Group ◽  
Healthy Controls ◽  
Ε4 Allele ◽  
Different Populations ◽  
The Impact

Abstract Background Hyperlipidemia plays an important role in the etiology of cardio-cerebrovascular disease. Over recent years, a number of studies have explored the impact of apolipoprotein genetic polymorphisms in hyperlipidemia, but considerable differences and uncertainty have been found in their association with different populations from different regions. Results A total of 59 articles were included, containing in total 13,843 hyperlipidemia patients in the case group and 15,398 healthy controls in the control group. Meta-analysis of the data indicated that APOA5–1131 T > C, APOA1 -75 bp, APOB XbaI, and APOE gene polymorphisms were significantly associated with hyperlipidemia, with OR values of 1.996, 1.228, 1.444, and 1.710, respectively. All P-values were less than 0.05. Conclusions Meta-analysis of the data indicated that the C allele of APOA5 1131 T > C, the A allele at APOA1-75 bp, the APOB XbaI T allele, and the ε2 and ε4 allele of APOE were each a risk factor for susceptibility for hyperlipidemia.

scholarly journals Association between serum lipid and ischaemic stroke in a tertiary hospital in Northern Andhra Pradesh, India

2020 ◽  
Vol 7 (7) ◽  
pp. 1078
Author(s):  
Tamminana Venugopala Rao ◽  
Budumuru Annaji Rao ◽  
Sreedevi Panchadi ◽  
K. Sudheer
Keyword(s):  
Risk Factor ◽  
Ischaemic Stroke ◽  
Serum Lipid ◽  
Serum Lipids ◽  
Independent Risk Factor ◽  
Ldl Cholesterol ◽  
Control Group ◽  
Case Group ◽  
Stroke Patients ◽  
The Brain

Background: The incidence of cerebrovascular disease increases with age and the number of strokes is projected to increase as the elderly population grows. A stroke occurs when blood vessels that carry blood to the brain suddenly blocked or burst, preventing blood flow to the brain. The most common cause of blood vessel blockages is thrombosis (a blood clot) or an embolism (floating clot). Blood clots may form in the arteries that are damaged by atherosclerosis. Atherosclerosis is an aging process but some factors (risk factor) precipitate it to occur earlier. To find out the risk factors properly are of tremendous importance as risk factor change could directly influence or indirectly affect case fatality by altering the natural history of the disease. Serum lipids are thought to interact with the pathogenesis of stroke through the atherosclerotic mechanism. Objective was to identify the high serum lipid as an independent risk factor of stroke.Methods: This is a hospital-based case-control study. Seventy cases of stroke patients and age, sex-matched 70 healthy control subjects were enrolled by non-random sampling. 12 hours of fasting plasma lipids were estimated in both cases and control subjects. Then it was compared between cases and controls.Results: Hypercholesterolemia was higher in the case group than control but not statistically significant. Mean LDL- cholesterol, and triglycerides were significantly higher in the case group than the control group. The mean value of serum HDL-cholesterol was not significantly lower in the case group than the control group.Conclusions: Serum lipids are significantly higher in ischaemic stroke patients than the control group (LDL cholesterol and triglyceride). So, it may be an independent risk factor of ischemic stroke.

scholarly journals Cognitive and Motor Norms for Huntington’s Disease

2020 ◽  
Vol 35 (6) ◽  
pp. 671-682
Author(s):  
James A Mills ◽  
Jeffrey D Long ◽  
Amrita Mohan ◽  
Jennifer J Ware ◽  
Cristina Sampaio
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Rating Scale ◽  
Word Reading ◽  
Natural Aging ◽  
Color Naming ◽  
Stroop Interference ◽  
Healthy Controls ◽  
Aging Effects ◽  
Motor Score

Abstract Background The progression of Huntington’s disease (HD) for gene-expanded carriers is well-studied. Natural aging effects, however, are not often considered in the evaluation of HD progression. Objective To examine the effects of natural aging for healthy controls and to develop normative curves by age, sex, and education from the distribution of observed scores for the Symbol Digit Modalities Test, Stroop Word Reading Test, Stroop Color Naming Test, Stroop Interference Test, Total Motor Score, and Total Functional Capacity (TFC) from the Unified Huntington’s Disease Rating Scale (UHDRS) along with a composite score. Methods After combining longitudinal REGISTRY and Enroll-HD data, we used quantile regression and natural cubic splines for age to fit models for healthy controls (N = 3,394; N observations = 8,619). Normative curves were estimated for the 0.05, 0.25, 0.50, 0.75, and 0.95 quantiles. Two types of reference curves were considered: unconditional curves were dependent on age alone, whereas conditional curves were dependent on age and other covariates, namely sex and education. Results Conditioning on education was necessary for the Symbol Digit, Stroop Word, Stroop Color, Stroop Interference, and composite UHDRS. Unconditional curves were sufficient for the Total Motor Score. TFC was unique in that the curve was constant over age with its intercept at the maximum score (TFC = 13). For all measures, sex effects were minimal, so conditioning on sex was unwarranted. Conclusions Extreme quantile estimates for each measure can be considered as boundaries for natural aging and scores falling beyond these thresholds are likely the result of disease progression. Normative curves and tables are developed and can serve as references for clinical characterization in HD.

scholarly journals Antidopaminergic treatment is associated with reduced chorea and irritability but impaired cognition in Huntington’s disease (Enroll-HD)

2020 ◽  
Vol 91 (6) ◽  
pp. 622-630
Author(s):  
Kate L Harris ◽  
Wei-Li Kuan ◽  
Sarah L Mason ◽  
Roger A Barker
Keyword(s):  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Case Reports ◽  
Controlled Trial ◽  
Rate Of Change ◽  
Control Group ◽  
Open Label ◽  
Double Blind ◽  
Before And After ◽  
Rate Of Decline

ObjectivesAlterations in dopamine neurotransmission underlie some of the clinical features of Huntington’s disease (HD) and as such are a target for therapeutic intervention, especially for the treatment of chorea and some behavioural problems. However, justification for such an intervention is mainly based on case reports and small open label studies and the effects these drugs have on cognition in HD remain unclear.MethodsIn this study, we used the Enroll-HD observational database to assess the effects of antidopaminergic medication on motor, psychiatric and cognitive decline, over a 3-year period. We first looked at the annual rate of decline of a group of HD patients taking antidopaminergic medication (n=466) compared with an untreated matched group (n=466). The groups were matched on specified clinical variables using propensity score matching. Next, we studied a separate group of HD patients who were prescribed such medications part way through the study (n=90) and compared their rate of change before and after the drugs were introduced and compared this to a matched control group.ResultsWe found that HD patients taking antidopaminergic medication had a slower progression in chorea and irritability compared with those not taking such medications. However, this same group of patients also displayed significantly greater rate of decline in a range of cognitive tasks.ConclusionIn conclusion we found that antidopaminergic treatment is associated with improvements in the choreic movements and irritability of HD but worsens cognition. However, further research is required to prospectively investigate this and whether these are causally linked, ideally in a double-blind placebo-controlled trial.

scholarly journals Risk factors for post-bronchoscopy pneumonia: a case–control study

2020 ◽  
Vol 10 (1) ◽  
Author(s):  
Yu Sato ◽  
Kengo Murata ◽  
Miake Yamamoto ◽  
Tsukasa Ishiwata ◽  
Miyako Kitazono-Saitoh ◽  
...  
Keyword(s):  
Risk Factors ◽  
Multivariate Analysis ◽  
Risk Factor ◽  
Independent Risk Factor ◽  
Case Control Study ◽  
Case Control ◽  
Control Group ◽  
Tracheobronchial Stenosis ◽  
Control Study ◽  
Age And Sex

AbstractThe bronchoscopy, though usually safe, is occasionally associated with complications, such as pneumonia. However, the use of prophylactic antibiotics is not recommended by the guidelines of the British Thoracic Society. Thus far there are few reports of the risk factors for post-bronchoscopy pneumonia; the purpose of this study was to evaluate these risk factors. We retrospectively collected data on patients in whom post-bronchoscopy pneumonia developed from the medical records of 2,265 patients who received 2666 diagnostic bronchoscopies at our institution between April 2006 and November 2011. Twice as many patients were enrolled in the control group as in the pneumonia group. The patients were matched for age and sex. In total, 37 patients (1.4%) had post-bronchoscopy pneumonia. Univariate analysis showed that a significantly larger proportion of patients in the pneumonia group had tracheobronchial stenosis (75.7% vs 18.9%, p < 0.01) and a final diagnosis of primary lung cancer (75.7% vs 43.2%, p < 0.01) than in the control group. The pneumonia group tended to have more patients with a history of smoking (83.8% vs 67.1%, p = 0.06) or bronchoalveolar lavage (BAL) (4.3% vs 14.9%, p = 0.14) than the control group. In multivariate analysis, we found that tracheobronchial stenosis remained an independent risk factor for post-bronchoscopy pneumonia (odds ratio: 7.8, 95%CI: 2.5–24.2). In conclusion, tracheobronchial stenosis was identified as an independent risk factor for post-bronchoscopy pneumonia by multivariate analysis in this age- and sex- matched case control study.

Reduced autonomic responsiveness to gambling task losses in Huntington's disease

2004 ◽  
Vol 10 (2) ◽  
pp. 239-245 ◽  
Author(s):  
MEGHAN C. CAMPBELL ◽  
JULIE C. STOUT ◽  
PETER R. FINN
Keyword(s):  
Decision Making ◽  
Huntington's Disease ◽  
Huntington’S Disease ◽  
Decision Task ◽  
Healthy Controls ◽  
Gambling Task ◽  
Risky Decision ◽  
Skin Conductance Responses ◽  
Decision Making Processes

We examined the possible role of autonomic activity in Huntington's disease (HD) during a risky decision making task. Skin conductance responses (SCRs) of 15 HD participants and 16 healthy controls were measured while they performed a computerized version of the Simulated Gambling Task (SGT). The results replicated our previous finding of a performance decrement in HD, and showed that HD was associated with an altered pattern of SCRs during the risky decision task. Specifically, the healthy controls produced increased SCRs following selections from the disadvantageous decks and following losing selections. In contrast, the SCRs of the HD group did not differentiate between wins and losses. These findings indicate a reduced impact of loss on decision-making processes under risky conditions in HD. (JINS, 2004, 10, 239–245.)

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