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Healthy Control Subjects (healthy + control_subject)
Selected AbstractsRegional cerebral brain metabolism correlates of neuroticism and extraversionDEPRESSION AND ANXIETY, Issue 3 2006Thilo Deckersbach Ph.D. Abstract Factor-analytic approaches to human personality have consistently identified several core personality traits, such as Extraversion/Introversion, Neuroticism, Agreeableness, Consciousness, and Openness. There is an increasing recognition that certain personality traits may render individuals vulnerable to psychiatric disorders, including anxiety disorders and depression. Our purpose in this study was to explore correlates between the personality dimensions neuroticism and extraversion as assessed by the NEO Five-Factor Inventory (NEO-FFI) and resting regional cerebral glucose metabolism (rCMRglu) in healthy control subjects. Based on the anxiety and depression literatures, we predicted correlations with a network of brain structures, including ventral and medial prefrontal cortex (encompassing anterior cingulate cortex and orbitofrontal cortex), insular cortex, anterior temporal pole, ventral striatum, and the amygdala. Twenty healthy women completed an 18FFDG (18F-fluorodeoxyglucose) positron emission tomography (PET) scan at rest and the NEO-FFI inventory. We investigated correlations between scores on NEO-FFI Neuroticism and Extraversion and rCMRglu using statistical parametric mapping (SPM99). Within a priori search territories, we found significant negative correlations between Neuroticism and rCMRglu in the insular cortex and positive correlations between Extraversion and rCMRglu in the orbitofrontal cortex. No significant correlations were found involving anterior cingulate, amygdala, or ventral striatum. Neuroticism and Extraversion are associated with activity in insular cortex and orbitofrontal cortex, respectively. Depression and Anxiety 23:133,138, 2006. © 2006 Wiley-Liss, Inc. [source] Lipids and lipoprotein(a) concentrations in Pakistani patients with type 2 diabetes mellitusDIABETES OBESITY & METABOLISM, Issue 5 2004S. S. Habib Aim:, The aim of the present study was to analyze serum lipoprotein(a) [Lp(a)] levels in Pakistani patients with type 2 diabetes mellitus (DM) and to find correlations between clinical characteristics and dyslipidaemias in these patients. Methods:, Fasting blood samples were analyzed for Lp(a), total cholesterol, triglycerides, low-density lipoprotein cholesterol (LDL-c), high-density lipoprotein cholesterol (HDL-c), glucose and glycosylated haemoglobin (HbA1c) in 68 Pakistani patients with type 2 DM and 40 non-diabetic healthy control subjects. Results:, Lp(a) levels were significantly raised in diabetics as compared to the control group. No correlation of Lp(a) was seen with age, body mass index (BMI), systolic blood pressure (SBP), diastolic blood pressure (DBP) and fasting glucose. There was a positive correlation of BMI to SBP and DBP. There was a significant positive correlation between Lp(a) and total cholesterol and LDL-c. No correlation of Lp(a) was observed with HDL-c, triglycerides and glycosylated haemoglobin (HbA1c). Conclusion:, The present study led us to conclude that serum Lp(a) levels are significantly raised in type 2 DM and have a positive correlation with serum total and LDL-c levels. [source] Parallel increase of plasma apoproteins C-II and C-III in Type 2 diabetic patientsDIABETIC MEDICINE, Issue 7 2009S. Béliard Abstract Aims, To determine plasma levels of apoprotein (apo) C-II and apoprotein C-III in Type 2 diabetic patients and to examine the clinical and biological factors that are associated with elevated apoC concentrations. Methods, We measured apoC-II and apoC-III in total plasma and in non-high-density lipoprotein fractions by an immunoturbidimetric assay in 88 Caucasian Type 2 diabetic patients and in 138 healthy control subjects. Results, Plasma levels of both apoC-II and apoC-III were increased in Type 2 diabetic patients. The clinical conditions associated with an increase of plasma apoC-II and apoC-III were abdominal obesity, body mass index, poor glycaemic control and lack of insulin treatment. However, when multivariate analysis was used, plasma apoCs levels correlated with triglyceride levels only. The apoC-III/apoC-II ratio was similar in the Type 2 diabetic and control subjects. Conclusions, Our study shows the parallel increase of apoC-II and C-III in Type 2 diabetic patients. This parallel increase is related to hypertriglyceridaemia only. [source] Phenotypic and genetic analyses of T-cell-mediated immunoregulation in patients with Type 1 diabetesDIABETIC MEDICINE, Issue 10 2006Y. Tsutsumi Abstract Aims To investigate the contribution of regulatory T cells and co-stimulatory molecules in CD4+ T cells to the development of Type 1 diabetes (T1D). Methods Twelve patients with T1D, nine patients with systemic lupus erythematosus (SLE), and 12 age-matched healthy control subjects participated. We analysed the proportions of CD25+CD4+ T cells and natural killer T cells (NKT cells), and the expression levels of Foxp3, CTLA-4, CD28, ICOS, PD-1 and BTLA in peripheral blood mononuclear cells and purified CD4+ T cells. Results There were no significant differences in the proportions of CD25+ CD4+ T cells or NKT cells among the three groups. PD-1 expression levels of peripheral CD4+ T cells from T1D patients were significantly lower than those from healthy control subjects (P = 0.00066). In contrast, PD-1 expression levels were similar in SLE patients and healthy control subjects. The expression levels of Foxp3, CTLA-4, CD28, ICOS and BTLA were similar in the three groups. Conclusions Decreased expression of the PD-1 gene in CD4+ T cells may contribute to the development and/or maintenance of autoimmune T1D. As the population studied was small and heterogeneous, further studies are required to confirm the findings. [source] Relative increase in choline in the occipital cortex in chronic fatigue syndromeACTA PSYCHIATRICA SCANDINAVICA, Issue 3 2002B. K. Puri Puri BK, Counsell SJ, Zaman R, Main J, Collins AG, Hajnal JV, Davey NJ. Relative increase in choline in the occipital cortex in chronic fatigue syndrome. Acta Psychiatr Scand 2002: 106: 224,226. © Blackwell Munksgaard 2002. Objective:,To test the hypothesis that chronic fatigue syndrome (CFS) is associated with altered cerebral metabolites in the frontal and occipital cortices. Method:,Cerebral proton magnetic resonance spectroscopy (1H MRS) was carried out in eight CFS patients and eight age- and sex-matched healthy control subjects. Spectra were obtained from 20 × 20 × 20 mm3 voxels in the dominant motor and occipital cortices using a point-resolved spectroscopy pulse sequence. Results:,The mean ratio of choline (Cho) to creatine (Cr) in the occipital cortex in CFS (0.97) was significantly higher than in the controls (0.76; P=0.008). No other metabolite ratios were significantly different between the two groups in either the frontal or occipital cortex. In addition, there was a loss of the normal spatial variation of Cho in CFS. Conclusion:,Our results suggest that there may be an abnormality of phospholipid metabolism in the brain in CFS. [source] Comparison of vasodilator effects of substance P in human forearm vessels of normoalbuminuric Type 1 diabetic and non-diabetic subjectsDIABETIC MEDICINE, Issue 3 2000D. R. Meeking Summary Aims To compare the vasodilatory responses to substance P in human forearm vessels in Type 1 normoalbuminuric diabetic and non-diabetic subjects. Methods Forearm blood flow (FBF) was measured using a plethysmography technique in 12 normoalbuminuric Type 1 diabetic subjects (six males, six females) (HbA1C 8.2 ± 0.3% (mean ±,sem)) and 12 non-diabetic healthy control subjects in response to the infusion of the vasodilators substance P (SP), acetylcholine (ACh) and nitroprusside. Results There was no significant difference in baseline FBF between the two groups (2.80 ± 0.29 ml/min per 100 ml forearm tissue (diabetic group) vs. 2.85 ± 0.37 ml/min per 100 ml (non-diabetic group), P = 0.45). Infusion of SP was associated with an incremental increase in FBF in the diabetic (0.6, 2 and 6 ng/min , 6.08 ± 1.07, 7.82 ± 1.08 and 9.48 ± 1.14 ml/min per 100 ml, respectively) and the non-diabetic group (0.6, 2 and 6 ng/min , 5.41 ± 0.80, 6.93 ± 0.96 and 9.25 ± 1.11 ml/min per 100 ml, respectively). Similarly, an incremental rise in FBF was observed during infusion of ACh (diabetic group: 7.5, 15 and 30 ,g/min , 7.14 ± 1.22, 8.91 ± 1.40 and 11.67 ± 1.93 ml/min per 100 ml, respectively; non-diabetic group: 7.5, 15 and 30 ,g/min , 5.87 ± 0.81, 7.49 ± 0.96 and 10.74 ± 1.29 ml/min per 100 ml, respectively). When FBF was expressed as percentage change from baseline, there was no significant difference in vasodilatory responses between the two groups for SP (0.6 ng/min, P = 0.21; 2 ng/min, P = 0.19; 6 ng/min, P = 0.19) or ACh (7.5 ,g/min, P = 0.20; 15 ,g/min, P = 0.20; 30 ,g/min, P = 0.35). Conclusions This study suggests that endothelium-dependent vasodilatory responses to SP (and ACh) are not impaired in Type 1 diabetic subjects with normal urinary albumin excretion. [source] Recollective experience in alcohol dependence: a laboratory studyADDICTION, Issue 12 2008Patrizia Thoma ABSTRACT Aims Alcohol dependence has been linked to dysfunction of fronto-temporo-striatal circuits which mediate memory and executive function. The present study aimed to explore the specificity of recognition memory changes in alcohol dependence. Design, setting and participants Twenty hospitalized alcohol-dependent detoxified patients and 20 healthy control subjects completed a verbal list discrimination task. Measurements Hits and false alarm rates were analysed. Additionally, both the dual process signal detection model (DPSD) and the process dissociation procedure (PDP) were used to derive estimates of the contribution of recollection and familiarity processes to the recognition memory performance in patients and controls. Findings Alcohol-dependent patients showed intact hit rates, but increased false alarm rates and an impaired ability to remember the learning context. Both the DPSD model and PDP estimates yielded significantly reduced recollection estimates in the alcohol-dependent compared to control subjects. Whether or not familiarity was impaired, depended upon the sensitivity of the estimation procedure. Conclusion Taken together, the result pattern suggests a significant impairment in recollection and mild familiarity changes in recently detoxified, predominantly male, alcohol-dependent subjects. [source] Corticolimbic dysregulation and chronic methamphetamine abuseADDICTION, Issue 2007Kate Baicy ABSTRACT Aims This review aims to present and interpret evidence that methamphetamine dependence is associated with disorder of brain function that is required for top-down control of behavior. Approach Presented here are findings from brain imaging studies of human research participants with histories of chronic methamphetamine abuse in the context of functional consequences and implications for treatment of their dependence on methamphetamine. Findings Brain imaging studies have revealed differences in the brains of research participants who have used methamphetamine chronically and then abstained from taking the drug, compared with healthy control subjects. These abnormalities are prominent in cortical and limbic systems, and include deficits in markers of dopaminergic and serotonergic neurotransmitter systems, differences in glucose metabolism and deficits in gray matter. These abnormalities accompany cognitive deficits, including evidence of impaired inhibitory control. Conclusion Cortical deficits in abstinent methamphetamine abusers can affect a wide range of functions that can be important for success in maintaining drug abstinence. These include but are not limited to modulation of responses to environmental stimuli as well as internal triggers that can lead to craving and relapse. Potential therapies may combine behavioral approaches with medications that can improve cognitive control. [source] Increased QT variability in young asymptomatic patients with ,-thalassemia majorEUROPEAN JOURNAL OF HAEMATOLOGY, Issue 4 2007Damiano Magrě Abstract Background:, Despite recent progress in iron chelation therapy, sudden cardiac death due to malignant ventricular arrhythmias remains a vexing, clinical problem in patients with ,-thalassemia major (TM). In this study we assessed whether the major indices of QT variability, emerging tools for risk stratification of sudden cardiac death, differ in young asymptomatic patients with TM and healthy persons. Methods: Thirty patients with TM and 30 healthy control subjects underwent a 5-min electrocardiography recording to calculate the following variables: QT variance (QTv), QTv normalized for mean QT (QTVN) and QT variability index (QTVI). All subjects also underwent a two-dimensional and Doppler echocardiography study and magnetic resonance imaging (MRI) to determine cardiac and hepatic T2* values. Results: No differences were observed in clinical and conventional echo-Doppler findings in healthy control subjects and patients with TM whereas QTv, QTVN and QTVI values were significantly higher in patients than those in controls (QTv, P < 0.001; QTVN, P < 0.05 and QTVI, P < 0.001) and cardiac T2* and hepatic MRI T2* values were significantly lower in patients with TM (P < 0.001). The indices of temporal QT variability correlated significantly with MRI data. Conclusions: Young asymptomatic patients with TM have increased cardiac repolarization variability as assessed by QT variability indices, probably due to cardiac iron deposition. These easily assessed, non-invasive markers could be used to identify increased myocardial repolarization lability early in asymptomatic patients with TM. [source] Asymmetrical lateral ventricular enlargement in Parkinson's diseaseEUROPEAN JOURNAL OF NEUROLOGY, Issue 4 2009M. M. Lewis Background:, A recent case report suggested the presence of asymmetrical lateral ventricular enlargement associated with motor asymmetry in Parkinson's disease (PD). The current study explored these associations further. Methods:, Magnetic resonance imaging (3T) scans were obtained on 17 PD and 15 healthy control subjects at baseline and 12,43 months later. Baseline and longitudinal lateral ventricular volumetric changes were compared between contralateral and ipsilateral ventricles in PD subjects relative to symptom onset side and in controls relative to their dominant hand. Correlations between changes in ventricular volume and United Parkinson's disease rating scale motor scores (UPDRS-III) whilst on medication were determined. Results:, The lateral ventricle contralateral to symptom onset side displayed a faster rate of enlargement compared to the ipsilateral (P = 0.004) in PD subjects, with no such asymmetry detected (P = 0.312) in controls. There was a positive correlation between ventricular enlargement and worsening motor function assessed by UPDRS-III scores (r = 0.96, P < 0.001). Discussion:, There is asymmetrical lateral ventricular enlargement that is associated with PD motor asymmetry and progression. Further studies are warranted to investigate the underlying mechanism(s), as well as the potential of using volumetric measurements as a marker for PD progression. [source] Event-related delta oscillatory responses of Alzheimer patientsEUROPEAN JOURNAL OF NEUROLOGY, Issue 6 2008G. Yener Background and purpose:, Alzheimer type of dementia (AD) is the most common neuropsychiatric morbidity in elderly individuals. Event-related oscillations (ERO) provide an useful tool for detecting subtle abnormalities of cognitive processes with high temporal resolution. Methods:, In the present report, event-related oscillations of patients with AD were analyzed by using a visual oddball paradigm. A total of 22 mild probable AD subjects according to NINCDS-ADRDA criteria and 20 age-, gender-, and education-matched healthy control subjects were compared. AD group consisted from 11 untreated patients and 11 patients treated with cholinesterase inhibitor. Oscillatory responses were recorded from 13 scalp electrodes. Results:, Significant differences in delta frequency range were seen between the groups by using repeated measures of anova analysis [F(9.120) = 2.228; P = 0.022]. Post-hoc analyses using Wilcoxon test showed that at mid- and left central regions, (Cz, C3) peak amplitudes of delta responses of healthy subjects were significantly higher than either group. Also cholinesterase inhibitors did not have effect on delta oscillatory responses. Conclusions:, Our findings imply that the delta oscillatory responses at central locations are highly instable in mild probable AD patients regardless of treatment when compared to the healthy aged controls. This study supports the importance of oscillatory event-related potentials for investigating AD brain dynamics. [source] The guanine nucleotide binding protein , polypeptide 3 gene C825T polymorphism is associated with elite endurance athletesEXPERIMENTAL PHYSIOLOGY, Issue 3 2009Nir Eynon A functional C825T polymorphism in the human guanine nucleotide binding protein , polypeptide 3 (GNB3) gene has been associated with enhanced G protein activation. Since reports regarding the interaction between physical activity and the GNB3 C825T polymorphism are limited and inconsistent, the aim of this study was to determine the frequency of C825T alleles among 155 elite Israeli athletes (endurance athletes and sprinters) and 234 healthy control subjects. Genotyping for GNB3 C825T was performed using polymerase chain reaction on DNA from leucocytes. Results showed that there was a significant difference in GNB3 C825T polymorphism genotype frequencies between endurance athletes and sprinters (P= 0.045) as well as between endurance athletes and control subjects (P= 0.046). We also observed a significantly higher proportion of the GNB3 TT genotype in the group of endurance athletes (19%) compared with the sprinters (5%, P= 0.014) and the control subjects (8.5%, P= 0.026). In the group of athletes, the odds ratio of GNB3 TT genotype being an endurance athlete was 4.49 (95% confidence interval 1.4,14.3) and of GNB3 CC genotype was 0.91 (95% confidence interval 0.47,1.77). These results were even more pronounced when we compared between the subgroups of 20 top-level endurance athletes and 24 top-level sprinters. We conclude that in Israeli athletes the GNB3 TT genotype is higher in elite endurance athletes than it is in sprinters, and within the endurance group it is higher in top-level athletes, suggesting a positive association between the TT genotype and the likelihood of being an elite endurance athlete. [source] Genetic polymorphisms in the tobacco smoke carcinogens detoxifying enzyme UGT1A7 and the risk of head and neck cancerHEAD & NECK: JOURNAL FOR THE SCIENCES & SPECIALTIES OF THE HEAD AND NECK, Issue 10 2009Martin Lacko MD Abstract Background. UGT1A7 is an enzyme involved in the metabolism of (pre)carcinogens present in tobacco smoke. We investigated whether genetic polymorphisms in UGT1A7, with predicted altered enzyme activity, may have a risk-modifying effect on head and neck carcinogenesis. Methods. Blood samples from 427 patients with oral, pharyngeal, and laryngeal carcinoma and 420 healthy control subjects were investigated for UGT1A7 polymorphisms. Based on these polymorphisms, patients and controls were divided according to predicted enzyme activity (low, intermediate, high). Results. Logistic regression analysis showed a significant increased distribution of predicted high activity UGT1A7 polymorphisms among the patients (OR:1.44; 95% CI: 1.07,1.93). Stratified analyses demonstrated that high activity UGT1A7 polymorphisms were even more significantly present in patients with laryngeal cancer, older patients, heavy smokers, and heavy drinkers when compared with the control subjects. Conclusions. Predicted high activity UGT1A7 polymorphisms were significantly associated with an increased risk of head and neck cancer. © 2009 Wiley Periodicals, Inc. Head Neck, 2009 [source] Contrasts in cortical magnesium, phospholipid and energy metabolism between migraine syndromes.HEADACHE, Issue 4 2003MD Boska Neurology. 2002;58:1227-1233. BACKGROUND: Previous single voxel (31)P MRS pilot studies of migraine patients have suggested that disordered energy metabolism or Mg(2+) deficiencies may be responsible for hyperexcitability of neuronal tissue in migraine patients. These studies were extended to include multiple brain regions and larger numbers of patients by multislice (31)P MR spectroscopic imaging. METHODS: Migraine with aura (MWA), migraine without aura (MwoA), and hemiplegic migraine patients were studied between attacks by (31)P MRS imaging using a 3-T scanner. RESULTS: Results were compared with those in healthy control subjects without headache. In MwoA, consistent increases in phosphodiester concentration [PDE] were measured in most brain regions, with a trend toward increase in [Mg(2+)] in posterior brain. In MWA, phosphocreatine concentration ([PCr]) was decreased to a minor degree in anterior brain regions and a trend toward decreased [Mg(2+)] was observed in posterior slice 1, but no consistent changes were found in phosphomonoester concentration [PME], [PDE], inorganic phosphate concentration ([Pi]), or pH. In hemiplegic migraine patients, [PCr] had a tendency to be lower, and [Mg(2+)] was significantly lower than in the posterior brain regions of control subjects. Trend analysis showed a significant decrease of brain [Mg(2+)] and [PDE] in posterior brain regions with increasing severity of neurologic symptoms. CONCLUSIONS: Overall, the results support no substantial or consistent abnormalities of energy metabolism, but it is hypothesized that disturbances in magnesium ion homeostasis may contribute to brain cortex hyperexcitability and the pathogenesis of migraine syndromes associated with neurologic symptoms. In contrast, migraine patients without a neurologic aura may exhibit compensatory changes in [Mg(2+)] and membrane phospholipids that counteract cortical excitability. Comment: If the theory of hyperexcitability of migraine brain is correct, basic scientists will need to find clear markers for the neuronal abnormalities that underlie this excitability. Using their techniques, these researchers could not find such markers. SJT [source] Effects of structural variations of APOBEC3A and APOBEC3B genes in chronic hepatitis B virus infectionHEPATOLOGY RESEARCH, Issue 12 2009Hiromi Abe Aim:, Human APOBEC3 deaminases induce G to A hypermutation in nascent DNA strand of hepatitis B virus (HBV) genomes and seem to operate as part of the innate antiviral immune system. We analyzed the importance of APOBEC3A (A3A) and APOBEC3B (A3B) proteins, which are potent inhibitors of adeno-associated-virus and long terminal repeat (LTR)-retrotransposons, in chronic HBV infection. Methods:, We focused on the common deletion polymorphism that spans from the 3, part of A3A gene to the 3, portion of A3B gene. An association study was carried out in 724 HBV carriers and 469 healthy control subjects. We also analyzed hypermutated genomes detected in deletion and insertion (non-deletion) homozygous patients to determine the effect of APOBEC3 gene deletion. Further, we performed functional analysis of A3A gene by transient transfection experiments. Results:, The association study showed no significant association between deletion polymorphism and chronic HBV carrier state. Context analysis also showed a negligible effect for the deletion. Rather, mild liver fibrosis was associated with APOBEC gene deletion homozygosity, suggesting that A3B deletion is not responsible for chronic HBV infection. Functional analysis of A3A showed that overexpression of A3A induced hypermutation in HBV genome, although the levels of hypermutants were less than those introduced by A3G. However, overexpression of A3A did not decrease replicative intermediates of HBV. Conclusion:, These results suggest that A3A and A3B play little role in HBV elimination through anti-viral defense mechanisms. The significance of hypermutation induced by A3A should be investigated further. [source] Effects of brain-derived neurotrophic factor Val66Met polymorphism on hippocampal volume change in schizophreniaHIPPOCAMPUS, Issue 9 2010P. Cédric M.P. Koolschijn Abstract A functional polymorphism of the brain-derived neurotrophic factor (BDNF) gene (Val66Met) has been associated with the risk for schizophrenia and volume differences in the hippocampus. However, little is known about the association between progressive brain volume change in schizophrenia and BDNF genotype. The aim of this study was to investigate the relationship between hippocampal volume change in patients with schizophrenia and healthy control subjects and BDNF genotype. Two structural magnetic resonance imaging brain scans were acquired of 68 patients with schizophrenia and 83 healthy subjects with an interval of approximately 5 yrs. Hippocampal volume change was measured and related to BDNF genotype in patients and healthy controls. BDNF genotype was not associated with hippocampal volume change over time in patients or healthy controls, nor could we replicate earlier findings on smaller hippocampal volume in Met-carriers. However, we did find a genotype-by-diagnosis interaction at baseline demonstrating smaller hippocampal volumes in patients homozygous for the Val-allele relative to healthy Val-homozygotes. In addition, irrespective of genotype, patients showed smaller hippocampal volumes compared with healthy controls at baseline. In summary, our results suggest that the BDNF Val66Met polymorphism is not associated with hippocampal volume change over time. Nevertheless, our findings may support the possibility that BDNF affects brain morphology differently in schizophrenia patients and healthy subjects. © 2009 Wiley-Liss, Inc. [source] Magnetoencephalographic gamma power reduction in patients with schizophrenia during resting conditionHUMAN BRAIN MAPPING, Issue 10 2009Lindsay Rutter Abstract Objective: The "default network" represents a baseline condition of brain function and is of interest in schizophrenia research because its component brain regions are believed to be aberrant in the disorder. We hypothesized that magnetoencephalographic (MEG) source localization analysis would reveal abnormal resting activity within particular frequency bands in schizophrenia. Experimental Design: Eyes-closed resting state MEG signals were collected for two comparison groups. Patients with schizophrenia (N = 38) were age-gender matched with healthy control subjects (N = 38), and with a group of unmedicated unaffected siblings of patients with schizophrenia (N = 38). To localize 3D-brain regional differences, synthetic aperture magnetometry was calculated across established frequency bands as follows: delta (0.9,4 Hz), theta (4,8 Hz), alpha (8,14 Hz), beta (14,30 Hz), gamma (30,80 Hz), and super-gamma (80,150 Hz). Principle Observations: Patients with schizophrenia showed significantly reduced activation in the gamma frequency band in the posterior region of the medial parietal cortex. As a group, unaffected siblings of schizophrenia patients also showed significantly reduced activation in the gamma bandwidth across similar brain regions. Moreover, using the significant region for the patients and examining the gamma band power gave an odds ratio of 6:1 for reductions of two standard deviations from the mean. This suggests that the measure might be the basis of an intermediate phenotype. Conclusions: MEG resting state analysis adds to the evidence that schizophrenic patients experience this condition very differently than healthy controls. Whether this baseline difference relates to network abnormalities remains to be seen. Hum Brain Mapp, 2009. © 2009 Wiley-Liss, Inc. [source] Non-functional immunoglobulin G transcripts in a case of hyper-immunoglobulin M syndrome similar to type 4IMMUNOLOGY, Issue 2 2004John M. Darlow Summary 86% of immunoglobulin G (IgG) heavy-chain gene transcripts were found to be non-functional in the peripheral blood B cells of a patient initially diagnosed with common variable immunodeficiency, who later developed raised IgM, whereas no non-functionally rearranged transcripts were found in the cells of seven healthy control subjects. All the patient's IgM heavy-chain and , light-chain transcripts were functional, suggesting that either non-functional rearrangements were being selectively class-switched to IgG, or that receptor editing was rendering genes non-functional after class-switching. The functional ,-chain sequences showed a normal rate of somatic hypermutation while non-functional sequences contained few somatic mutations, suggesting that most came from cells that had no functional gene and therefore were not receiving signals for hypermutation. However, apoptosis of peripheral blood lymphocytes was not impaired. No defects have been found in any of the genes currently known to be responsible for hyper-IgM syndrome but the phenotype fits best to type 4. [source] Role of functional polymorphisms of NRAMP1 gene for the development of Crohn's diseaseINFLAMMATORY BOWEL DISEASES, Issue 10 2008Maria Gazouli PhD Abstract Background: Crohn's disease (CD) is characterized by chronic activation of macrophages. Natural resistance-associated macrophage protein 1 (NRAMP1) gene exerts many pleiotropic effects on macrophage functions. Hence, NRAMP1 may be also involved in the resistance to intracellular pathogens, and this effector of the innate immunity might be involved in CD pathogenesis. Polymorphic alleles at the NRAMP1 locus have been previously associated with susceptibility both to the putative infectious agents and to autoimmune disorders. Based on these indications, in the present study we investigate its candidacy as a genetic determinant for CD in a Greek population in an association-based study, comparing frequencies of 274 CD patients to these of 200 healthy control subjects. Methods: The 5,(GT)n promoter polymorphism and 9 either single nucleotide (SNPs) or insertion/deletion type polymorphisms were genotyped across the NRAMP1 gene. Reverse-transcriptase polymerase chain reaction (RT-PCR) and immunohistochemistry were performed in order to investigate the NRAMP1 mRNA levels in RNA isolated from biopsies of CD patients as well as protein expression in tissues. Results: Three NRAMP1 polymorphisms [5,(GT)n, D543N, and INT4G/C] were significantly associated with CD. Consistent with previous autoimmune disease studies, allele 3 at the functional 5,(GT)n promoter region repeat polymorphism, was significantly associated with CD when compared to healthy controls (odds ratio 1.50; 95% confidence interval [CI]: 1.16,1.95; P = 0.002). Interestingly, we observed that CD patients homozygous for allele 3 expressed higher NRAMP1 mRNA levels compared to carriers of allele 2. Furthermore, the protein levels of allele 3 carriers in tissues were also elevated compared to those of allele 2 carriers. Based on these data we can speculate that overrepresentation of allele 3 in CD patients could lead to hyperactivation of bowel-wall macrophages that are chronically exposed to lipopolysaccharide and this could subsequently cause the autoimmune-like phenotype characteristic of CD. Conclusions: Collectively, our data indicate that genetic polymorphisms of NRAMP1 might be associated with susceptibility to CD. (Inflamm Bowel Dis 2008) [source] Prevalence and clinical significance of antineutrophil cytoplasmic antibody in Graves' patients treated with propylthiouracilINTERNATIONAL JOURNAL OF CLINICAL PRACTICE, Issue 2 2009M.Ozduman Cin Summary Development of antineutrophil cytoplasmic antibody (ANCA) during therapy with propylthiouracil (PTU) is not uncommon and PTU-induced ANCA-positive vasculitis is also reported. The aim of this study was to assess the presence and clinical significance of ANCA positivity in Graves' patients treated with PTU. Newly diagnosed Graves' disease patients (prospective group, n = 58) were evaluated before and during therapy with PTU to investigate the development of ANCA positivity. ANCA positivity is also investigated in previously diagnosed Graves' patients who had already been receiving PTU treatment (cross-sectional group, n = 51). Comparisons with Hashimoto thyroiditis (n = 55) and toxic nodular goitre (n = 20) patients, and healthy control subjects (n = 20) were carried out to define the possible influence of hyperthyroidism and/or thyroid autoimmunity on ANCA positivity. At baseline evaluation, ANCA was negative in all newly diagnosed Graves' patients. Only 28 of the 58 patients in prospective group completed 2 years of follow-up which occurred at 3-month intervals. ANCA positivity was detected 32.1% (n = 9) in a mean period of 11.7 ± 6.1 months in prospective group. Only two (3.9%) patients in a cross-sectional group had ANCA positivity in a mean treatment period of 7.6 ± 4.6 months. None of the patients with ANCA positivity developed symptoms and signs related to vasculitis. None of the patients with Hashimoto thyroiditis and toxic nodular goitre, and healthy control subjects had ANCA positivity. PTU therapy is associated with asymptomatic production of ANCA in a time-dependent manner, which mostly disappears after discontinuation of therapy. Hyperthyroidism or autoimmunity per se does not appear to have effect on development of ANCA positivity. [source] Association of serotonin transporter gene-linked polymorphic region and variable number of tandem repeat polymorphism of the serotonin transporter gene in lichen simplex chronicus patients with psychiatric statusINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 10 2008Necmettin Kirtak MD Background, The serotonin (5-hydroxytryptamine; 5-HT) is a key neurotransmitter in the central nervous system and a responsible mediator for the itch. Dysregulation of serotonergic pathways has been implicated in the pathogenesis of many complex neuropsychiatric diseases. Objectives, The purpose of this study was to evaluate the relationship between lichen simplex chronicus and dysfunction and serotonin transporter (5-HTT) gene polymorphism. Methods, Thirty-nine patients with lichen simplex chronicus and 61 healthy control subjects were examined. Results, The results for the patients and control subjects were not significantly different (P > 0.05) in long/long (L/L) and long/short (L/S) genotypes of 5-HTT gene-linked polymorphic region (HTTLPR) polymorphism, but short/short S/S genotype was lower in lichen simplex chronicus patients (17.9%) than in controls (42.6%). This difference was statistically significant (P = 0.028). The results for the patients and control subjects were not significantly different in 12/12, 10/12 and 10/10 genotypes of variable number of tandem repeat (VNTR) polymorphism (P > 0.05). Beck depression inventory (BDI) scores and symptom checklist-90-revised (SCL-90) psychotic subscale were overrepresented significantly in the 12/12 genotypes than 10/12 genotypes. State and Trait Anxiety Inventory tests (STAI-I and -II) point averages were not statistically significant (P > 0.05) Conclusion, S/S genotypes of HTTLPR polymorphism in the 5-HTT gene may be related to lichen simplex chronicus and that patients who have 12/12 genotypes of VNTR polymorphism may be affected psychiatrically. [source] Soluble syndecan-1 (sCD138) as a prognostic factor independent of mutation status in patients with chronic lymphocytic leukemiaINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 1 2009I. JILANI Summary Syndecan-1 (sCD138) is a transmembrane heparan sulfate-bearing proteoglycan expressed in epithelial cells as well as hematopoietic cells that demonstrate plasmacytoid differentiation. Higher levels of sCD138 correlate with poor outcome in myeloma. We examined the association of circulating sCD138 levels in plasma with clinical behavior in 104 patients with chronic lymphocytic leukemia. sCD138 levels were significantly higher in patients (median, 52.8 ng/ml; range, 13.4,252.7 ng/ml) than in healthy control subjects (median, 19.86; range, 14.49,33.14 ng/ml) (P < 0.01). Elevated sCD138 (>median, 52.8 ng/ml) was associated with significantly shorter survival (P = 0.0004); this association was independent of IgVH mutation status, ,2-microglobulin (,2-M) level, and treatment history. Patients with mutated IgVH but high sCD138 levels (>52.8 ng/ml) had significantly shorter survival than those with mutated IgVH and lower levels of sCD138. Similarly, patients with unmutated IgVH but high sCD138 levels had significantly shorter survival than those with lower sCD138 levels and unmutated IgVH (P = 0.007). In a multivariate Cox regression model, only Rai stage, ,2-M, and sCD138 remained predictors of survival. These data suggest that sCD138 when combined with ,2-M and Rai stage, may replace the need for testing IgVH mutation status. [source] Analysis of two common ,1 -antitrypsin deficiency alleles (PI*Z and PI*S) in subjects with periodontitisJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 12 2002D. A. Scott Abstract Background: ,,1 -Antitrypsin deficiency is a genetically determined condition resulting in predisposition to certain inflammatory diseases due to a protease: antiprotease imbalance that is exacerbated by tobacco smoking. Limited evidence suggests that there may be a significant enrichment of mild ,1 -antitrypsin deficiency phenotypes in subjects with chronic inflammatory periodontal disease. Objective: To examine the prevalence of two common ,1 -antitrypsin deficiency alleles (PI*Z and PI*S) in a UK population of subjects with periodontitis. Subjects and methods: The prevalence of PI*M, PI*S and PI*Z allele combinations was determined in 31 subjects with periodontitis and compared with 31 healthy control subjects matched for smoking status, ethnicity, age and gender. ,1 -Antitrypsin genotyping was performed by multiplex real-time fluorescence polymerase chain reaction (PCR) using DNA extracted from whole blood. Results: There was no difference in the proportion of any ,1 -antitrypsin genotype found in the diseased and control populations. Conclusions: We did not find evidence to support an association between mutant PI* alleles and periodontitis in a small, controlled study. Larger studies will be required to clarify the relationship between ,1 -antitrypsin genotype and susceptibility to inflammatory periodontal disease. [source] Color Doppler sonography of orbital and vertebral arteries in migraineurs without auraJOURNAL OF CLINICAL ULTRASOUND, Issue 6 2003Simay Altan Kara MD Abstract Purpose The objective of this study was to investigate whether the retrobulbar hemodynamics in the ophthalmic (OA), posterior ciliary (PCA), central retinal (CRA), and vertebral (VA) arteries are affected in migraineurs without aura. Methods The eyes of migraineurs without aura and those of healthy control subjects were evaluated during both headache and headache-free periods. Retrobulbar and vertebral blood flow velocities in the OA, PCA, CRA, and the extracranial part of the VA were measured bilaterally using color Doppler sonography. The peak systolic and end-diastolic flow velocities and the pulsatility (PI) and resistance (RI) indices were determined for all arteries. Results In total, we enrolled 30 migraineurs and 31 healthy control subjects. Statistically significant differences between headache-free migraineurs and control subjects were observed in the PI and RI of both right and left PCAs and in the RI of both right and left CRAs. The PI and RI of the left VA of the migraineurs were significantly lower during both headache and headache-free periods than were those of the control subjects. Among the migraineurs, the peak systolic and end-diastolic velocities of the left VA were increased during headache periods relative to those found during the headache-free periods. Conclusions The retrobulbar circulation and flow hemodynamics in the left VA may be altered in both headache and headache-free periods in migraineurs without aura. The differences found between migraineurs and control subjects may implicate autonomic dysfunction in migraineurs. © 2003 Wiley Periodicals, Inc. J Clin Ultrasound 31:308,314, 2003 [source] Doppler measurement of blood flow velocities in extraocular orbital vessels in patients with obstructive sleep apnea syndromeJOURNAL OF CLINICAL ULTRASOUND, Issue 5 2003C. Zuhal Erdem MD Abstract Purpose. We used color Doppler sonography to determine blood flow velocities in the extraocular orbital vessels of patients with obstructive sleep apnea syndrome (OSAS) and compared the results with those of healthy control subjects without OSAS. Methods. Patients with OSAS were classified according to the apnea-hypopnea index (AHI) as having mild OSAS (AHI < 20) or severe OSAS (AHI , 20). The peak systolic velocity (PSV), end-diastolic velocity (EDV), and resistance index were measured in the ophthalmic artery (OA), central retinal artery (CRA), lateral short posterior ciliary artery, and medial short posterior ciliary artery using color Doppler sonography. Only 1 eye was measured in each study participant, and right and left eyes were chosen randomly. The blood flow velocities of patients with OSAS and those of control subjects were compared with the Kruskal-Wallis test and Wilcoxon's rank-sum test. Results. The study comprised 30 patients (15 with mild and 15 with severe OSAS) and 20 healthy control subjects. Blood flow velocities were higher in most measured vessels in patients with OSAS than they were in the control subjects. Among patients with mild OSAS, the PSVs and EDVs in the posterior ciliary arteries were statistically significantly higher than those of the control group (p < 0.05), but those in the OA and CRA did not differ significantly between the mild OSAS group and the control group (p > 0.05). However, as the severity of OSAS increased, the PSVs and EDVs of the OA and CRA were also affected (p < 0.05). Conclusions. Color Doppler sonographic measurements of blood flow parameters in the orbital vessels may differ significantly between patients with OSAS and those without the syndrome. Therefore, OSAS should be considered in addition to other conditions when interpreting the results of color Doppler sonography of the extraocular orbital vessels if the clinical history points toward such a diagnosis. © 2003 Wiley Periodicals, Inc. 31:250,257, 2003 [source] R2* imaging of transfusional iron burden at 3T and comparison with 1.5TJOURNAL OF MAGNETIC RESONANCE IMAGING, Issue 3 2007Pippa Storey PhD Abstract Purpose To determine normative R2* values in the liver and heart at 3T, and establish the relationship between R2* at 3T and 1.5T over a range of tissue iron concentrations. Materials and Methods A total of 20 healthy control subjects and 14 transfusion-dependent patients were scanned at 1.5T and 3T. At each field strength R2* imaging was performed in the liver and heart. Results Normative R2* values in the liver were estimated from the control group to be 39.2 ± 9.0 second,1 at 1.5T and 69.1 ± 21.9 second,1 at 3T. Normative cardiac values were estimated as 23.4 ± 2.2 second,1 at 1.5T and 30.0 ± 3.7 second,1 at 3T. The combined R2* data from patients and control subjects exhibited a linear relationship between 3T and 1.5T. In the liver, the line of best fit to the 3T vs. 1.5T data had a slope of 2.00 ± 0.06 and an intercept of ,11 ± 4 second,1. In the heart, it had a slope of 1.88 ± 0.14 and an intercept of ,15 ± 4 second,1. Conclusion These preliminary data suggest that the iron-dependent component of R2* scales linearly with field strength over a wide range of tissue iron concentrations. The incidence of susceptibility artifacts may, however, also increase with field strength. J. Magn. Reson. Imaging 2007;25:540,547. © 2007 Wiley-Liss, Inc. [source] Detection of viruses identified recently in children with acute wheezingJOURNAL OF MEDICAL VIROLOGY, Issue 8 2007Ju-Young Chung Abstract The etiologic role of recently identified respiratory viruses for acute wheezing in children is not yet clear. The purpose of this study was to investigate the prevalence of recently identified viruses, including human metapneumovirus (hMPV), human bocavirus (hBoV), human coronavirus NL63 (hCoV-NL63), and human coronavirus HKU1 (hCoV-HKU1) in children with acute wheezing. Viral etiology was identified in 231 children hospitalized with acute wheezing, aged from 1 month to 5 years. Viral antigens for common respiratory viruses were detected by IFA or multiplex PCR. RT-PCR was used to detect respiratory rhinoviruses, hCoV-NL63, hCoV-HKU1, and hMPV. PCR assays for hBoV DNA were performed using the primer sets for noncapsid protein (NP1) and nonstructural protein (NS1) genes. Viruses were found in 61.5% (142/231) of the study population and a single virus was detected in 45.5% (105/231) of the study population. Rhinovirus (33.3%), human respiratory syncytial virus (hRSV; 13.8%), and hBoV (13.8%) were the most frequently detected viruses. hMPV and hCoV-NL63 were detected in 7.8% and 1.3% of wheezing children, respectively. HCoV-HKU1 was not detected. In 16.0% of the study population, more than one virus was detected. In children with acute wheezing, rhinovirus, hRSV, and hBoV were most frequently detected. Further studies including healthy control subjects are needed to define the clinical significance of hBoV in acute wheezing. J. Med. Virol. 79: 1238,1243, 2007. © 2007 Wiley-Liss, Inc. [source] Levels of HSP70 in HIV+ patients in different viroimmunological statesJOURNAL OF MEDICAL VIROLOGY, Issue 3 2006E. Espigares Abstract The aim of the study was to establish an association between the viroimmunological status of HIV positive patients and their levels of the 70-kD heat shock protein (Hsp70). The longitudinal retrospective case study involved 61 patients at the University Hospital in Granada (Spain) from 1999 to 2002. Twenty-five patients were viroimmunologically stable, while the other 36 patients had suffered virological failure. A minimum of three blood samples were taken at intervals of at least 3 months for the patients who were stable virologically and immunologically, whereas four samples were taken for the virological failure group: two previous to the onset of virological failure, a third corresponding to the time of virological failure, and a fourth at least 3 months after remission of virological failure. Blood samples were also obtained from 20 healthy control subjects; Hsp70 levels in all were determined by enzyme immunoassay. The mean concentration of Hsp70 was 145.4 ng/ml in the HIV-infected patients as opposed to 72.1 ng/ml in the controls. While the viroimmunologically stable group showed levels similar to those of the controls (66.5 ng/ml), the mean value of Hsp70 in the virological failure group was nearly four times as high (249.1 ng/ml), yet this difference was not statistically significant. The patients treated with reverse transcriptase inhibitors were found to have significantly higher levels of Hsp70 than the other subjects. The transformed variable Hsp70/CD4+ presents less variability than the Hsp70 value itself, giving a higher degree of statistical significance, and may be considered a useful parameter for diagnostic, prognostic, and therapeutic management of HIV positive patients. J. Med. Virol. 78:318,323, 2006. © 2006 Wiley-Liss, Inc. [source] HLA typing in Taiwanese patients with oral submucous fibrosisJOURNAL OF ORAL PATHOLOGY & MEDICINE, Issue 4 2004Hsin-Ming Chen Background:, A significant association of certain human leukocyte antigens (HLA) and haplotypic pairs with oral submucous fibrosis (OSF) has been reported. However, controversial result of no HLA association with OSF has also been reported. In this study, the phenotype and haplotype frequencies of HLA-A, -B, -C, -DRB1, and -DQB1 in 135 Taiwanese OSF patients were calculated and compared with those in 540 healthy control Taiwanese. Methods:, The analysis of HLA-A, -B, and -C antigens, and of HLA-DRB1 and -DQB1 alleles in OSF patients and healthy control subjects, was performed by serologic typing and DNA typing using polymerase chain reaction with sequence-specific primers (PCR-SSP), respectively. Results:, We found that the phenotype frequency of HLA-B76 (3.0%) in OSF patients was significantly greater than that (0%) in healthy control subjects (corrected P (Pc) = 0.000). In addition, the haplotype frequencies of HLA-B48/Cw7 (3.0%), -B51/Cw7 (6.7%), and -B62/Cw7 (8.2%) in OSF patients were significantly greater than the corresponding haplotype frequencies (0, 0.7, and 1.9%, respectively) in healthy control subjects (Pc = 0.000). The relative risk (RR) values of haplotypes B51/Cw7 (9.57) and B62/Cw7 (4.7) were greater than the RR values of phenotypes B51 (1.81), B62 (2.31), and Cw7 (1.91) in OSF patients. In addition, the etiologic fraction (EF) value of haplotype B51/Cw7 (0.63) was higher than the EF values of phenotypes B51 (0.2) and Cw7 (0.59). Conclusions:, We conclude that some Taiwanese areca quid (AQ) chewers with particular HLA phenotypes and haplotypes are prone to have OSF. In addition, some particular HLA haplotypes may play more important roles than the individual HLA phenotypes for the genetic susceptibility to OSF. However, the significantly increased HLA phenotype B76 and three of the common HLA haplotypes detected are present in only about 20% of incident cases of OSF. [source] Analysis of matrix metalloproteinase (MMP-8 and MMP-2) activity in gingival crevicular fluid from children with Down's syndromeJOURNAL OF PERIODONTAL RESEARCH, Issue 2 2010T. Yamazaki-Kubota Yamazaki-Kubota T, Miyamoto M, Sano Y, Kusumoto M, Yonezu T, Sugita K, Okuda K, Yakushiji M, Ishihara K. Analysis of matrix metalloproteinase (MMP-8 and MMP-2) activity in gingival crevicular fluid from children with Down's syndrome. J Periodont Res 2010; doi: 10.1111/j.1600-0765.2009.01214.x. © 2009 John Wiley & Sons A/S Background and Objective:, High levels of colonization by periodontopathic bacteria and a high prevalence of chronic inflammatory periodontal disease have been reported in children with Down's syndrome. Matrix metalloproteinases (MMPs) are mediators of extracellular matrix degradation and remodelling, and are deeply involved in the course of periodontal disease. To clarify the relationship between Down's syndrome and periodontitis, we investigated levels of MMP-2 and MMP-8 in gingival crevicular fluid (GCF) and detection of periodontopathic bacteria from subgingival plaque. Material and Methods:, Samples of GCF and plaque were isolated from central incisors. Levels of MMPs were evaluated by enzyme-linked immunosorbent assay, and periodontopathic bacteria were detected by polymerase chain reaction. Results:, Levels of MMP-2 and MMP-8 in Down's syndrome patients were higher than those in healthy control subjects. In the Down's syndrome group, increases in these MMPs were observed in GCF from patients with an oral hygiene index score of < 2 and in GCF from sites that were negative for bleeding on probing. The detection rate of periodontopathic bacteria in Down's syndrome patients was higher than that in the control subjects. Matrix metalloproteinase-2 levels in sites harbouring Porphyromonas gingivalis or Aggregatibacter (Actinobacillus) actinomycetemcomitans were lower than in those without these microorganisms. Conclusion:, These results suggest an increase in MMP-2 and MMP-8 in Down's syndrome patients, regardless of whether inflammation of periodontal tissue is present or not. [source] | |||||||||||||||||||||||||||||||||||||