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Normal Control Subjects (normal + control_subject)
Selected AbstractsEffect of RBP4 gene variants on circulating RBP4 concentration and Type 2 diabetes in a Chinese populationDIABETIC MEDICINE, Issue 1 2008C. Hu Abstract Aims Retinol binding protein 4 (RBP4) is a newly discovered adipokine, which plays a role in insulin resistance and obesity. The aim of this study was to determine the relationship between genetic variants of the RBP4 gene, circulating RBP4 concentrations and phenotypes related to glucose and lipid metabolism in the Chinese population. Methods We sequenced exons and the putative promoter region to identify single nucleotide polymorphisms (SNPs) in the RBP4 gene in 32 Chinese subjects. Additional SNPs were selected from a public database to increase marker density. Taking account of the pairwise linkage disequilibrium and minor allele frequencies, a subset of SNPs was further genotyped in 255 Type 2 diabetic patients and 372 normal control subjects. Circulating RBP4 concentrations and phenotypes related to glucose and lipid metabolism were measured. Results Ten SNPs were identified and five were further genotyped in the full sample. No individual SNP was significantly associated with Type 2 diabetes, but a rare haplotype CAA formed by +5388 C>T, +8201 T>A and +8204 T>A was more frequent in diabetic patients (P = 0.0343, empirical P = 0.0659 on 10 000 permutations). In both groups, non-coding SNPs were associated with circulating RBP4 concentrations (P < 0.05). In the normal control subjects, the SNP +5388 C>T was associated with serum C-peptide levels both fasting and 2 h after an oral glucose tolerance test (P = 0.0162 and P = 0.0075, respectively). Conclusion Our findings suggest that genetic variants in the RBP4 gene may be associated with circulating RBP4 concentration and phenotypes related to glucose metabolism. [source] Impaired Motor Function in Patients with Psychogenic PseudoseizuresEPILEPSIA, Issue 12 2001Dalma Kalogjera Sackellares Summary: ,Purpose: To evaluate motor speed and grip strength in patients with well-documented psychogenic pseudoseizures. Methods: We analyzed manual motor speed and grip strength in a group of 40 patients with confirmed psychogenic pseudoseizures (without evidence of concomitant epilepsy) and a group of 40 normal controls matched for handedness and gender, and of comparable age. The two groups were compared with respect to manual motor performance with the dominant hand, nondominant hand, and asymmetry between the dominant and nondominant hands. For the patient sample, we reviewed the neurologic history. Results: Patients with pseudoseizures performed more poorly than controls with both dominant and nondominant hands. In addition, pseudoseizure patients failed to demonstrate the dominant-hand advantage observed in the normal control subjects on both tasks. The patient group had a high incidence of head trauma and other antecedent neurologic risk factors, and the proportion of left-handers was 3 times higher than expected. Conclusions: Bilaterally reduced motor speed and grip strength, reduced intermanual performance asymmetry, the high percentage of left-handers, and historical evidence of antecedent insults to the brain indicate that frontal lobe impairment may be common in patients with psychogenic pseudoseizures. [source] Confabulation, but not executive dysfunction discriminate AD from frontotemporal dementiaEUROPEAN JOURNAL OF NEUROLOGY, Issue 11 2004Z. Nedjam We examined confabulation and performance on frontal/executive tasks in Alzheimer's disease (AD) patients and patients with a diagnosis of probable frontotemporal dementia (FTD). Twenty-two patients with probable AD, 10 patients with probable FTD and 32 normal control subjects entered the study. Executive functions were assessed with the Modified Card Sorting test; a verbal fluency test; the Cognitive Estimation test; and the Stroop test. Confabulations were assessed with a modified version of the Confabulation Battery. The Confabulation Battery included 10 questions tapping each of the following domains: Episodic Memory (memories of personal past episodes), Semantic Memory (knowledge of famous facts and famous people), and Personal Future (personal plans). The results revealed that both AD patients and FTD patients were clearly and equally impaired on tests of executive functions. Both patients' groups confabulated across the three tasks of the Confabulation Battery, but FTD patients confabulated significantly more than AD patients on Episodic Memory and Personal Future. The results failed to provide any evidence of a correlation between the performance on frontal/executive tasks and the tendency to produce confabulatory reports. According to our results, confabulation, more than a deficit of frontal/executive functions, discriminate between AD and FTD. Therefore, screening for confabulation and, possibly, for other types of memory distortions may constitute a useful additional clinical tool in order to discriminate AD from FTD. [source] Microstructural status of ipsilesional and contralesional corticospinal tract correlates with motor skill in chronic stroke patientsHUMAN BRAIN MAPPING, Issue 11 2009Judith D. Schaechter Abstract Greater loss in structural integrity of the ipsilesional corticospinal tract (CST) is associated with poorer motor outcome in patients with hemiparetic stroke. Animal models of stroke have demonstrated that structural remodeling of white matter in the ipsilesional and contralesional hemispheres is associated with improved motor recovery. Accordingly, motor recovery in patients with stroke may relate to the relative strength of CST degeneration and remodeling. This study examined the relationship between microstructural status of brain white matter tracts, indexed by the fractional anisotropy (FA) metric derived from diffusion tensor imaging (DTI) data, and motor skill of the stroke-affected hand in patients with chronic stroke. Voxelwise analysis revealed that motor skill significantly and positively correlated with FA of the ipsilesional and contralesional CST in the patients. Additional voxelwise analyses showed that patients with poorer motor skill had reduced FA of bilateral CST compared to normal control subjects, whereas patients with better motor skill had elevated FA of bilateral CST compared to controls. These findings were confirmed using a DTI-tractography method applied to the CST in both hemispheres. The results of this study suggest that the level of motor skill recovery achieved in patients with hemiparetic stroke relates to microstructural status of the CST in both the ipsilesional and contralesional hemispheres, which may reflect the net effect of degeneration and remodeling of bilateral CST. Hum Brain Mapp, 2009. © 2009 Wiley-Liss, Inc. [source] Ribosomal DNA sequence analysis of mucosa-associated bacteria in Crohn's diseaseINFLAMMATORY BOWEL DISEASES, Issue 6 2004Tom Prindiville MD Abstract Background: Enteric bacteria are implicated in the pathogenesis of Crohn's disease (CD); however, no specific causative organisms have been identified. Aims: This study was undertaken to correlate disease activity with changes in intestinal biota in patients with CD. Subjects: Ribosomal DNA analysis was used to explore the composition of the intestinal biota in patients with (1) CD undergoing colonoscopy, (2) CD undergoing surgical resection, and (3) no inflammatory bowel disease. Methods: Primers targeting bacterial 16S ribosomal DNA (rDNA) were used to amplify bacterial DNA associated with active CD lesions, comparable normal tissue from patients with CD, and normal control tissue. Each amplicon was cloned. Seven hundred thirty-nine rDNA clones were sequenced from 16 biopsies from CD patients, 15 surgical samples, and 10 biopsies from normal control patients. Results: Known extracellular or intracellular pathogens were not found. No rDNA sequence, phylogenetic group, or subgroup was consistently associated with CD lesions compared with normal tissues from the same patients. Colonic biopsies from CD-afflicted patients compared with biopsies from normal control subjects had an increase in facultative bacteria; in small bowel, CD patients had an increase in the Ruminococcus gnavus subgroup with a decrease in the Clostridium leptum and Prevotella nigrescens subgroups. However, differences in small bowel may have reflected individual variation rather than disease association. Surgical samples showed differences when compared with biopsy-derived samples. Conclusions: These findings suggest that CD is not caused by invasive pathogens associated specifically with the sites of lesions but that dysbiosis exists in this condition. [source] A novel mutation in the ATP2C1 gene is associated with Hailey,Hailey disease in a Chinese familyINTERNATIONAL JOURNAL OF DERMATOLOGY, Issue 1 2009Zhou Jiang Liu MD Background, A three-generation Chinese family with Hailey,Hailey disease (HHD) was identified and characterized. The proband developed HHD with severe recurrent blisters and crusted erosions involving the body folds. Skin biopsy studies showed epidermal hyperkeratosis and defects in cell-to-cell adhesion. Three other members in the family were also affected with HHD and had the same clinical manifestations. The purpose of this study was to identify the pathogenic gene or mutation in the family. Methods, All exons and exon,intron boundaries of ATP2C1 were polymerase chain reaction (PCR) amplified and sequenced with DNA samples from the proband. Restriction fragment length polymorphism (RFLP) analysis for the intron 23,exon 24 boundary of ATP2C1 was performed in all family members and in 100 normal control subjects. Results, A novel 2-bp deletion (c.2251delGT) was detected in exon 24 of the ATP2C1 gene. The mutation was present in the three other affected family members and in two asymptomatic young carriers, but not in the other normal family members or the 100 normal controls. The mutation resulted in a frameshift change and led to the formation of a premature termination codon (PTC) four amino acid residues downstream from the sixth transmembrane domain. Conclusions, Our results indicate that the novel c.2251delGT (p.V751fs) mutation in the ATP2C1 gene is responsible for HHD in this Chinese family. This study expands the spectrum of ATP2C1 mutations associated with HHD. [source] Evaluation of eosin-5-maleimide flow cytometric test in diagnosis of hereditary spherocytosisINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 1p2 2010R. KAR Summary A flow cytometry-based test using eosin-5-maleimide (EMA) dye was used for diagnosis of hereditary spherocytosis (HS). The mean fluorescence intensiy (MFI) of EMA tagged erythrocytes is lower in HS than that in other hemolytic and nonhemolytic anemias. We enrolled 114 subjects comprising 20 confirmed HS, 20 suspected HS/hemolytic anemia (HA), 20 normal controls, 20 other hemolytic anemias [13 autoimmune hemolytic anemia, three congenital dyserythropoietic anemia (CDA), one pyruvate kinase deficiency, two microangiopathic hemolytic anemia], 18 microcytic anemia and 16 macrocytic anemia cases. All samples were subjected to flow cytometry as per standard protocol. The mean MFI of normal control subjects was 11 861.5 (SD 883.5) and of confirmed HS was 7949.3 (SD 1304.1). Using this test, of 20 patients suspected to be HS/HA but with no confirmatory diagnosis, eight patients were diagnosed as HS. Using logistic regression analysis, the optimum cut-off MFI value between HS and normal controls was 10126. The area under the ROC curve was 0.99. The statistical significance of MFI values was obtained by t -test or Wilcoxon rank sum test as applicable. Compared with normal controls, the MFI values in HS were lower and in megaloblastic anemia were higher which was statistically highly significant (P < 0.01), and the MFI values in CDA were lower which was statistically significant (P < 0.05). False-positive values were obtained in three cases of AIHA and two cases of CDA. The sensitivity and specificity was 96.4% and 94.2% respectively. The EMA-based flow cytometry test is a highly sensitive and specific method for the diagnosis of HS. [source] Association of idiopathic generalized epilepsy with polymorphisms in the neuronal nicotinic acetylcholine receptor subunitsJOURNAL OF CLINICAL LABORATORY ANALYSIS, Issue 2 2007Cheng-Chun Lee Abstract Idiopathic generalized epilepsy (IGE) refers to a common group of epilepsies, and genetic factors play an important role in the pathogenesis of these disorders. Mutations in CHRNA4 and CHRNB2 are associated with some cases of familial epilepsies classified as autosomal-dominant nocturnal frontal lobe epilepsies. We aimed to evaluate whether polymorphisms of CHRNA4 and CHRNB2are associated with IGE. A total of 75 children with IGE and 80 normal control subjects were included in the study. Each genetic polymorphism was typed by polymerase chain reaction (PCR)-based restriction analysis. The genotypes and allelic frequencies of each polymorphism were compared between the IGE patients and controls. The results showed that genotype and allelic frequency for CHRNB2 did not differ significantly between the groups. However, the genotype proportion of the CHRNA4 (Ser543Ser) gene in both groups was significantly different (P<0.0001). The T allele frequency was significantly higher (P=0.0126) in patients with IGE compared to healthy controls. The odds ratio (OR) for developing IGE in individuals with the CHRNA4 (Ser543Ser)-T homozygote was 4.9 (95% confidence interval (CI), 1.71,14.04) compared to individuals with two copies of the CHRNA4 (Ser543Ser)-C allele. This study demonstrates that the CHRNA4 gene may be one of the susceptibility factors for IGE. J. Clin. Lab. Anal. 21:67,70, 2007. © 2007 Wiley-Liss, Inc. [source] Deficiency of KIT-positive cells in the colon of patients with diabetes mellitusJOURNAL OF GASTROENTEROLOGY AND HEPATOLOGY, Issue 6 2002MASANORI NAKAHARA Abstract Background Diabetes mellitus is a well-known cause of gastrointestinal dysmotility. The pathogenesis of diabetic gastroenteropathy is mainly considered to be a neuropathy, but the cause of dysmotility remains unknown. Interstitial cells of Cajal (ICC), which express c-kit receptor tyrosine kinase (KIT), are considered to be pacemaker cells for the gastrointestinal movement. Therefore, we investigated a possible involvement of ICC in the pathogenesis of diabetic gastroenteropathy in humans. Methods The KIT-positive cells in the proper muscle layer of the colon were detected by immunohistochemistry in patients with diabetes mellitus and normal control subjects. Mast cells, which are also known to express KIT, were detected by staining with Alcian blue. The numbers of KIT-positive cells and Alcian blue-positive cells in the proper muscle layer were counted under the microscope and the number of KIT-positive cells apart from Alcian blue-positive cells was calculated. Results In the normal control subjects, KIT-positive cells were located at the myenteric plexus region and in the circular muscle layer of the colon. Their distribution pattern was similar to that of ICC. The average number of KIT-positive cells, apart from mast cells (which reflects the number of ICC), in patients with diabetes mellitus was approximately 40% of that found in normal subjects. Conclusions Deficiency of ICC might be related to the pathogenesis of diabetic gastroenteropathy in humans. [source] Current Directions in Hemochromatosis Research: Towards an Understanding of the Role of Iron Overload and the HFE Gene Mutations in the Development of Clinical DiseaseNUTRITION REVIEWS, Issue 1 2003Article first published online: 16 SEP 200 Since the discovery of a candidate gene (HFE) thought to be involved in the development of hereditary hemochromatosis, there has been much interest in the potential use of genetic testing as a screening tool for the disease in the general population. However, a recent study suggests that less than 1% of subjects who are homozygous for the gene mutations will go on to develop the full-blown disease of hereditary hemochromatosis, historically termed "bronzed diabetes." The study also suggests that homozygotes have no higher risk of mortality or of any clinically significant morbidity than normal control subjects. This conclusion contradicts earlier findings that linked iron overload and HFE mutations to a number of devastating diseases, including cardiovascular disease, diabetes, and cancer. [source] Circulating adhesion molecules in sera of asthmatic childrenPEDIATRIC PULMONOLOGY, Issue 4 2002Ren-Bin Tang MD Abstract Infiltration of cells into the lung in asthma is regulated by several expressions of cell adhesion molecules (CAMs) on cells present in the airways, and may play a role in the pathogenesis of bronchial asthma. We sought to evaluate the role of serum concentrations of the soluble forms of intercellular adhesion molecule-1 (sICAM-1), vascular cell adhesion molecule-1 (sVCAM-1), and E-selectin (sE-selectin) in the control of disease activity in acute asthma. Circulating levels of sICAM-1, sVCAM-1, and sE-selectin in sera from 15 normal control subjects and from 20 allergic asthmatic children with acute exacerbations who had returned to stable condition were determined by using commercially available enzyme-linked immunosorbent assay kits. The mean concentration of serum sICAM-1 levels was significantly higher during an acute exacerbation of asthmatic children than in those with stable asthma (19.41,±,10.65 ng/mL vs. 13.46,±,5.44 ng/mL; P,<,0.001) or in control subjects (9.83,±,2.02 ng/mL; P,<,0.001). For sVCAM-1 and sE-selectin, the mean serum concentration of sVCAM-1 was slightly higher in children during an acute exacerbation asthma than when stable. However, the differences did not reach statistical significance. The mean serum concentrations of sVCAM-1 and sE-selectin in acute asthma or stable asthma were significiantly higher than in control subjects. This study provides further evidence that serum concentrations of sICAM-1, sVCAM-1, and sE-selectin are increased in acute asthma. These findings further confirm that leukocyte endothelial adhesion plays a role in inflammmatory airway disease. Pediatr Pulmonol. 2002; 33:249,254. © 2002 Wiley-Liss, Inc. [source] Sleep-related violence and low serum cholesterol: A preliminary studyPSYCHIATRY AND CLINICAL NEUROSCIENCES, Issue 2 2002Mehmed Yucel Agargun MD Abstract To examine whether there is a relationship between serum cholesterol level and sleep-related violence, we evaluated 15 patients with violent behavior during sleep (VBS) and 15 normal control subjects. The patient and control groups were matched for sex, age, and weight. There were 13 women and two men in each group. The patients with VBS had lower serum total cholesterol, triglyceride, and low-density lipoprotein levels than the healthy subjects. Low cholesterol may effect serotonergic neuronal activity and some types of 5-HT receptors, then may be related to violent behavior during sleep. [source] Heme Oxygenase (HO)-1 Is Upregulated in the Nasal Mucosa With Allergic Rhinitis,THE LARYNGOSCOPE, Issue 3 2006Ahmed Elhini MD Abstract Background: Heme oxygenase (HO) is considered to be an antioxidant enzyme that catabolizes heme to produce carbon monoxide (CO) and biliverdin. Three isoforms of HO have been discovered. Recently, HO-1 has been found to be upregulated after allergic inflammations of the lower airway. Objective: The objective of this study was to address the expression of HO isoenzymes 1 and 2 in the nasal mucosa of patients with allergic rhinitis as well as normal control subjects. Methods: Nasal mucosa from 30 patients with persistent allergic rhinitis as well as from 10 normal volunteers was used in this study. We used immunofluorescent technique, Western blotting, and real-time quantitative polymerase chain reaction to localize and quantify the expression of these isoenzymes in normal and allergic human nasal tissues. Results: We found that HO-1 is expressed in the epithelial cells of seromucinous glands and macrophages with significant upregulation of its glandular expression in allergic rhinitis but with no difference in its macrophage expression between the study groups in contrast to HO-2 that is expressed in the vascular endothelial lining cells as well as macrophages with no marked difference between the study groups. Conclusion: We demonstrated that expression of HO-1, but not HO-2, was upregulated within the nasal tissues in allergic rhinitis inflammation, and understanding the induction of HO-1 expression may provide for better management of allergic rhinitis that involves oxidative stress. [source] Upregulation of Oncostatin M in Allergic RhinitisTHE LARYNGOSCOPE, Issue 12 2005Hee Joon Kang MD Abstract Objectives: Oncostatin M is a multifunctional cytokine belonging to the interleukin-6 family of cytokines. It has been implicated as an important modulator of lower airway remodeling in the setting of asthma. However, there have been few studies regarding a similar role for the upper airway epithelium in the setting of allergic rhinitis. This study was undertaken to investigate the expression of oncostatin M mRNA and protein in normal and allergic rhinitis nasal mucosa and to localize the expression of the oncostatin M protein in allergic rhinitis. Materials and Methods: Inferior turbinate mucosa samples from 20 patients with perennial allergic rhinitis and 20 matched normal control subjects were obtained. Oncostatin M mRNA was extracted from the inferior turbinate mucosae, then reverse transcriptase-polymerase chain reaction was performed and analyzed semiquantitatively. Differences in expression levels of oncostatin M protein between samples from allergic rhinitis patients and normal control subjects were analyzed through Western blot, and oncostatin M protein was localized immunohistochemically. Results: The expression levels of oncostatin M mRNA and protein were significantly upregulated in patients with allergic rhinitis mucosa. Oncostatin M protein was predominantly localized in the surface epithelium, infiltrating inflammatory cells, vascular endothelium, and submucosal glands and was more strongly expressed in the nasal mucosa of patients with allergic rhinitis than in normal control subjects. Conclusions: Oncostatin M is expressed in the human nasal mucosa and is upregulated in the setting of allergic nasal inflammation. These results suggest a possible contribution of oncostatin M in the remodeling of the nasal mucosa in allergic rhinitis. [source] Videofluoroscopic Upper Esophageal Sphincter Function in Elderly Dysphagic PatientsTHE LARYNGOSCOPE, Issue 2 2002Katherine A. Kendall MD Abstract Objectives/Hypothesis The intent of the study was to identify and characterize abnormalities of the timing and extent of upper esophageal sphincter (UES) opening in an elderly population complaining of dysphagia. Study Design A retrospective review of dynamic swallow studies performed on patients greater than 65 years of age without an obvious medical or surgical cause for their dysphagia. Methods Measures of UES opening timing and extent in the patient population were compared with those from 60 young, normal control subjects and 23 elderly control subjects. The relationship of UES function and other swallowing abnormalities was also evaluated. Results No decrease in the size of UES opening was identified in the patient population. The coordination of UES opening relative to the position of the bolus in the pharynx was normal. UES opening was prolonged and was correlated with poor pharyngeal clearing suggestive of weak pharyngeal constriction. Conclusion No primary abnormality of UES function was identified in this elderly dysphagic patient population. [source] Decreased cerebrospinal fluid A,42 correlates with brain atrophy in cognitively normal elderly,ANNALS OF NEUROLOGY, Issue 2 2009Anne M. Fagan PhD Objective For therapies for Alzheimer's disease (AD) to have the greatest impact, it will likely be necessary to treat individuals in the "preclinical" (presymptomatic) stage. Fluid and neuroimaging measures are being explored as possible biomarkers of AD pathology that could aid in identifying individuals in this stage to target them for clinical trials and to direct and monitor therapy. The objective of this study was to determine whether cerebrospinal fluid (CSF) biomarkers for AD suggest the presence of brain damage in the preclinical stage of AD. Methods We investigated the relation between structural neuroimaging measures (whole-brain volume) and levels of CSF amyloid-, (A,)40, A,42, tau, and phosphorylated tau181 (ptau181), and plasma A,40 and A,42 in well-characterized research subjects with very mild and mild dementia of the Alzheimer type (n = 29) and age-matched, cognitively normal control subjects (n = 69). Results Levels of CSF tau and ptau181, but not A,42, correlated inversely with whole-brain volume in very mild and mild dementia of the Alzheimer type, whereas levels of CSF A,42, but not tau or ptau181, were positively correlated with whole-brain volume in nondemented control subjects. Interpretation Reduction in CSF A,42, likely reflecting A, aggregation in the brain, is associated with brain atrophy in the preclinical phase of AD. This suggests that there is toxicity associated with A, aggregation before the onset of clinically detectable disease. Increases in CSF tau (and ptau181) are later events that correlate with further structural damage and occur with clinical onset and progression. Ann Neurol 2009;65:176,183 [source] Presence of significant synovitis in rheumatoid arthritis patients with disease-modifying antirheumatic drug,induced clinical remission: Evidence from an imaging study may explain structural progressionARTHRITIS & RHEUMATISM, Issue 12 2006A. K. Brown Objective More timely and effective therapy for rheumatoid arthritis (RA) has contributed to increasing rates of clinical remission. However, progression of structural damage may still occur in patients who have satisfied remission criteria, which suggests that there is ongoing disease activity. This questions the validity of current methods of assessing remission in RA. The purpose of this study was to test the hypothesis that modern joint imaging improves the accuracy of remission measurement in RA. Methods We studied 107 RA patients receiving disease-modifying antirheumatic drug therapy who were judged by their consultant rheumatologist to be in remission and 17 normal control subjects. Patients underwent clinical, laboratory, functional, and quality of life assessments. The Disease Activity Score 28-joint assessment and the American College of Rheumatology remission criteria, together with strict clinical definitions of remission, were applied. Imaging of the hands and wrists using standardized acquisition and scoring techniques with conventional 1.5T magnetic resonance imaging (MRI) and ultrasonography (US) were performed. Results Irrespective of which clinical criteria were applied to determine remission, the majority of patients continued to have evidence of active inflammation, as shown by findings on the imaging assessments. Even in asymptomatic patients with clinically normal joints, MRI showed that 96% had synovitis and 46% had bone marrow edema, and US showed that 73% had gray-scale synovial hypertrophy and 43% had increased power Doppler signal. Only mild synovial thickening was seen in 3 of the control subjects (18%), but no bone marrow edema. Conclusion Most RA patients who satisfied the remission criteria with normal findings on clinical and laboratory studies had imaging-detected synovitis. This subclinical inflammation may explain the observed discrepancy between disease activity and outcome in RA. Imaging assessment may be necessary for the accurate evaluation of disease status and, in particular, for the definition of true remission. [source] N-methyl-D-aspartate receptor expression in parvalbumin-containing inhibitory neurons in the prefrontal cortex in bipolar disorderBIPOLAR DISORDERS, Issue 1 2010Byron KY Bitanihirwe Bitanihirwe BKY, Lim MP, Woo T-UW. N-methyl-D-aspartate receptor expression in parvalbumin-containing inhibitory neurons in the prefrontal cortex in bipolar disorder. Bipolar Disord 2010: 12: 95,101. © 2010 The Authors. Journal compilation © 2010 John Wiley & Sons A/S. Objectives:, Inhibitory neural circuits and the glutamatergic regulation of these circuits in the cerebral cortex appear to be disturbed in bipolar disorder. In this study, we addressed the hypothesis that, in the prefrontal cortex (PFC), disturbances of glutamatergic regulation of the class of inhibitory neurons that contain the calcium buffer parvalbumin (PV) via N-methyl-D-aspartate (NMDA) receptor may contribute to the pathophysiology of bipolar disorder. Methods:, We used double in situ hybridization with a sulfur-35-labeled riboprobe for the NR2A subunit of the NMDA receptor and a digoxigenin-labeled riboprobe for PV in a cohort of 18 subjects with bipolar disorder and 18 demographically matched normal control subjects. Results:, We observed no differences in the relative density and laminar distribution of the PV-expressing neurons between subjects with bipolar disorder and matched normal control subjects. Furthermore, the density of the PV neurons that co-expressed NR2A messenger RNA (mRNA) or the cellular expression of NR2A mRNA in the PV neurons that exhibited a detectable level of this transcript was unaltered in subjects with bipolar disorder. Conclusions:, These findings suggest that, in the PFC, glutamatergic regulation of PV-containing inhibitory neurons via NR2A-containing NMDA receptors does not appear to be altered in bipolar disorder. However, the possibility that other subsets of ,-aminobutyric acid (GABA) neurons or other glutamate receptor subtypes are affected cannot be excluded. [source] Urinary nerve growth factor level could be a biomarker in the differential diagnosis of mixed urinary incontinence in womenBJU INTERNATIONAL, Issue 10 2008Hsin-Tzu Liu OBJECTIVES To measure urinary nerve growth factor (NGF) levels in women with stress urinary incontinence (SUI) and overactive bladder symptoms (OAB) and to assess whether urinary NGF levels can be a biomarker of detrusor overactivity (DO) in women with mixed urinary incontinence. PATIENTS, SUBJECTS AND METHODS Urinary NGF levels were measured in 38 women with urodynamic SUI (USI) with OAB, in 26 with urodynamic DO but no SUI, in 21 with persistent USI after anti-incontinence surgery, in 15 with de novo DO, and in 31 normal control subjects. All participants had a video-urodynamic study for the differential diagnosis of the underlying causes of UI. Urinary NGF levels were measured using an enzyme-linked immunosorbent assay and were compared among all subgroups, and corrected using urinary creatinine (Cr) levels. RESULTS The mean (sem) urinary NGF/Cr levels were low both in controls, at 0.06 (0.004) and in women with pure USI, at 0.056 (0.037) (P = 0.108). The NGF/Cr levels were significantly higher in women with mixed USI and DO, at 1.00 (0.244), than in controls (P < 0.001) and those with pure USI (P = 0.006), but were similar to the levels in women with pure DO, at 0.58 (0.17) (P = 0.058). The NGF/Cr levels were undetectable in women with persistent USI but were significantly higher in those with de novo DO, at 2.39 (0.90), after anti-incontinence surgery than in controls and those with USI. A urinary NGF/Cr level of >0.05 was found in 9% of women with USI, 77% with DO, 81% with mixed USI and DO, and 80% with de novo DO. CONCLUSION The urinary NGF level could be a potential biomarker of DO in women with mixed UI. [source] Demonstration of aberrant T-cell and natural killer-cell antigen expression in all cases of granular lymphocytic leukaemiaBRITISH JOURNAL OF HAEMATOLOGY, Issue 6 2003William G. Morice Summary. The diagnosis of granular lymphocytic leukaemia (GLL) requires the presence of an immunophenotypically distinct T-cell (T-GLL) or natural killer-cell (NK-GLL) population. Flow cytometric immunophenotyping was performed on 21 T-GLL patients, 11 NK-GLL patients and 20 normal control subjects using antibodies to T and NK cell-associated antigens in order to accurately identify the distinguishing features of T-GLL and NK-GLL. The NK antigens evaluated included: CD16, CD57, CD94, CD161, and the killing inhibitory receptors (KIRs) CD158a, CD158b and CD158e (p70). Abnormal T-antigen expression was present in all T-GLL patients. CD57 was frequently expressed in T-GLL, however, one-third of patients showed partial CD57 expression similar to that seen in T cells from normal control subjects. Ten T-GLL were KIR positive; all expressed a single KIR isoform. All NK-GLL showed a distinctive, abnormal immunophenotype. Four NK-GLL expressed a single KIR isoform; the remaining seven patients lacked all tested KIRs, which is also a distinct, abnormal finding. Immunoperoxidase staining of bone marrow biopsy specimens from NK-GLL patients with antibodies to CD8, TIA-1 and granzyme B revealed the disease-specific distinctive staining patterns previously found in T-GLL. These studies delineate the unique immunophenotypic features diagnostic of T-GLL and provide strong evidence that NK-GLL, like T-GLL, represents a clonal lymphoproliferative disorder. [source] Lack of association of ,2-glycoprotein I polymorphisms Val247Leu and Trp316Ser with antiphospholipid antibodies in patients with thrombosis and pregnancy complicationsBRITISH JOURNAL OF HAEMATOLOGY, Issue 6 2003Raymond S. Camilleri Summary. Beta2 -glycoprotein I (,2GPI) is an important target antigen for antiphospholipid antibodies (aPL) and thus ,2GPI polymorphisms may influence aPL production and the development of antiphospholipid syndrome. We have studied the relationship between the Val247Leu and Trp316Ser ,2GPI polymorphisms and the aPL status of 230 patients referred for aPL screening. Sixty-one (26·5%) had persistent aPL [anticardiolipin antibodies (IgG and/or IgM), lupus anticoagulants and/or IgG anti-,2GPI antibodies]. A comparison of the genotypic and allelic frequencies of these two polymorphisms between the Caucasian patient population and an ethnic-matched normal control group (n = 308) showed no significant differences between aPL-positive patients, aPL-negative patients and the normal control group. This suggests that the Val or Leu allele at position 247 and the Trp or Ser allele at position 316 of ,2GPI do not play a role in the production of aPL. There was a significantly decreased prevalence of the Ser316 allele in aPL-negative women (n = 98) when compared with female normal control subjects (n = 249) {0·020 [95% confidence interval (CI) 0·00,0·04]vs 0·060 (95% CI 0·04,0·08), P = 0·0286}. Subgroup analysis showed no significant difference between female patients with thrombosis and female normal control subjects. Thus, the Ser316 allele may protect women from developing pregnancy complications by influencing an anticoagulant function of ,2GPI via a mechanism distinct from aPL production. [source] Tetranectin and apolipoprotein A-I in cerebrospinal fluid as potential biomarkers for Parkinson's diseaseACTA NEUROLOGICA SCANDINAVICA, Issue 5 2010E.-S. Wang Wang E-S, Sun Y, Guo J-G, Gao X, Hu J-W, Zhou L, Hu J, Jiang C-C. Tetranectin and apolipoprotein A-I in cerebrospinal fluid as potential biomarkers for Parkinson's disease. Acta Neurol Scand: 2010: 122: 350,359. © 2010 The Authors Journal compilation © 2010 Blackwell Munksgaard. Objective,,, The application of biomarkers may potentially improve the efficiency of the diagnosis for Parkinson's disease (PD). However, no reliable biomarker has been identified to date. This study is aimed to identify proteins that might serve as potential biomarkers for PD diagnosis or pathogenesis. Materials and methods,,, Two-dimensional difference gel electrophoresis (2D DIGE) technique, in combination with matrix-assisted laser desorption/ionization-time of flight mass spectrometry (MALDI-TOF MS), was used to determine the differentially expressed cerebrospinal fluid (CSF) proteins in PD patients (n = 3) compared with normal controls (n = 3). Selected proteins were further confirmed by Western blotting analysis in the CSF of PD patients (n = 8), Alzheimer's disease (AD) patients (n = 6) and normal control subjects (n = 7). Results,,, Eight proteins were identified after MS and protein database interrogation. In the CSF of PD patients, the expression levels of one isoform of apolipoprotein A-I (apoA-I), tetranectin, myosin phosphatase target subunit 1 (MYPT1), and two unknown proteins were down-regulated, whereas the expression levels of another apoA-I isoform, proapolipoprotein, and lipoprotein were up-regulated. Western blotting indicates that the expression of tetranectin was reduced in the CSF from PD patients and elevated in AD, while the expression of apoA-I was changed only in the CSF from PD patients. Conclusion,,, Our preliminary results suggest that tetranectin and apoA-I may serve as potential biomarkers for PD, though further validation is needed. [source] 2436: A critical look at meibometry as a means to monitor Meibomian gland functionACTA OPHTHALMOLOGICA, Issue 2010P VERSURA Purpose To evaluate the diagnostic performance of meibometry in classifying and quantifying Meibomian gland dysfunction(MGD) Methods Ninety-six patients with MGD (138 eyes, 62 women, 34 men) and 30 normal control subjects(55 eyes)were enrolled. Eighty six eyes were classified as high delivery (HD)-MGD (meibomian seborrhea/hypersecretory MGD), 52 as low delivery (LD)-MGD on the basis of expression quality scores and morphological signs. Direct Meibometry (DM) measurements were made with an MB550 Meibometer (Courage-Khazaka GmbH). Standard curves were constructed relating arbitrary Meibometer optical density units (AU). Integrated Meibometry (IM) was performed on scanned images of the lipid blots. Symptoms were scored by OSDI,Schirmer test I, Break Up Time (BUT), tear osmolarity (Tearlab, Ocusense), conjunctival scraping cytology were performed. Statistical analysis used SPSS 14.0 and MedCalc 5.0 Results AU values plotted on a log scale correlated highly with the lipid equivalent values (R2= 0.913). Significant differences were found between control subjects vs all MGD patients and between HD vs LD-MGD patients for all the parameters evaluated. In particular: controls: 300+/-121 AU (0.04+/-0.015 microliter), LD-MGD: 218+/-122 AU (0.03+/-0.015) and HD-MGD: 564+/-115 AU (0.07+0.015) (median+/-SD). Significant correlation was found DM vs IM (r=0.691,p<0.0001) and DM was shown to be correlated with BUT, OSDI score, scraping score and tear osmolarity, especially in LD-MGD patients. The selected DM diagnostic cut off for LD-MGD was <275 AU (sens 73, spec 60, PPV 63) and for HD-MGD was >450 AU; (sens 86, spec 87, PPV 91) Conclusion Meibometry is confirmed to be a reliable method to distinguish normal subjects from MGD subgroups with a good degree of accuracy [source] Ultrasonically measured horizontal eye muscle thickness in thyroid associated orbitopathy: cross-sectional and longitudinal aspects in a Danish seriesACTA OPHTHALMOLOGICA, Issue 2 2003Hans C. Fledelius Abstract. Purpose:, To analyse horizontal extraocular muscle findings by ultrasound and exophthalmometry in a tertiary endocrinology centre series of patients with thyroid associated orbitopathy (TAO). Methods:, The 90 thyroid patients included underwent ultrasonic measurement of horizontal eye muscle thickness by a B-scan based technique carried out in addition to their general ophthalmic evaluation. As an indicator of mainly advanced TAO, longterm prednisone or cyclosporine A was given to many of the patients, and drug-resistant visual loss indicated decompression surgery in four of the 90 patients. Thirty-four patients underwent repeated muscle recordings over 15,49 months; this allowed for cross-sectional analysis and the outlining of longitudinal trends. Results and Conclusions:, (A) Although marginally overlapping, all four muscle groups were significantly thicker in the study group than in normal control subjects. The mean of the sum of all four muscles was 16.8 mm (range 13.6,21.7 mm) in the control group versus 22.6 mm (range 15.5,36.4 mm) in the thyroid group. (B) Using the clinical NOSPECS grading, more advanced eye involvement was found to generally result in a higher exophthalmometric measurement of protrusion and eye muscle thickness. However, slender rectus muscles and/or normal exophthalmometric values might occur even in advanced orbitopathy. (C) Over a period of 2,4 years, only a few of 34 patients with satisfactory serial ultrasonic measurements returned to their premorbid ophthalmic status. Typically, the extraocular muscles kept their abnormal size after having become clinically quiescent (fibrotic). (D) We found no safe indication regarding disease stage, active or late, from the ultrasonic appearance of the muscle tissue. (E) Discrepancies between various normative eye muscle studies are discussed with regard to computer tomography and magnetic resonance imaging. [source] Proinflammatory cytokines (IL-17, IL-6, IL-18 and IL-12) and Th cytokines (IFN- ,, IL-4, IL-10 and IL-13) in patients with allergic asthmaCLINICAL & EXPERIMENTAL IMMUNOLOGY, Issue 2 2001C. K. Wong Allergen-reactive T helper type-2 (Th2) cells and proinflammatory cytokines have been suggested to play an important role in the induction and maintenance of the inflammatory cascade in allergic asthma. We compared the plasma concentrations of novel proinflammatory cytokines IL-17 and IL-18, other proinflammatory cytokines IL-6 and IL-12, Th2 cytokines IL-10 and IL-13, and intracellular interferon- , (IFN- ,) and IL-4 in Th cells of 41 allergic asthmatics and 30 sex- and age-matched health control subjects. Plasma cytokines were measured by enzyme-linked immunosorbent assay. Intracellular cytokines were quantified by flow cytometry. Plasma IL-18, IL-12, IL-10, IL-13 concentrations were significantly higher in allergic asthmatic patients than normal control subjects (IL-18: median 228·35 versus 138·72 pg/ml, P < 0·001; IL-12: 0·00 versus 0·00 pg/ml, P = 0·001; IL-10: 2·51 versus 0·05 pg/ml, P < 0·034; IL-13: 119·38 versus 17·89 pg/ml, P < 0·001). Allergic asthmatic patients showed higher plasma IL-17 and IL-6 concentrations than normal controls (22·40 versus 11·86 pg/ml and 3·42 versus 0·61 pg/ml, respectively), although the differences were not statistically significant (P = 0·077 and 0·053, respectively). The percentage of IFN- , -producing Th cells was significantly higher in normal control subjects than asthmatic patients (23·46 versus 5·72%, P < 0·001) but the percentage of IL-4 producing Th cells did not differ (0·72 versus 0·79%, P > 0·05). Consequently, the Th1/Th2 cell ratio was significantly higher in normal subjects than asthmatic patients (29·6 versus 8·38%, P < 0·001). We propose that allergic asthma is characterized by an elevation of both proinflammatory and Th2 cytokines. The significantly lower ratio of Th1/Th2 cells confirms a predominance of Th2 cells response in allergic asthma. [source] Hyperthyroidism is characterized by both increased sympathetic and decreased vagal modulation of heart rate: evidence from spectral analysis of heart rate variabilityCLINICAL ENDOCRINOLOGY, Issue 6 2006Jin-Long Chen Summary Objective, The clinical manifestations of hyperthyroidism resemble those of the hyperadrenergic state. This study was designed to evaluate the impact of hyperthyroidism on the autonomic nervous system (ANS) and to investigate the relationship between serum thyroid hormone concentrations and parameters of spectral heart rate variability (HRV) analysis in hyperthyroidism. Design and patients, Thirty-two hyperthyroid Graves' disease patients (mean age 31 years) and 32 sex-, age-, and body mass index (BMI)-matched normal control subjects were recruited to receive one-channel electrocardiogram (ECG) recording. Measurements, The cardiac autonomic nervous function was evaluated by the spectral analysis of HRV, which indicates the autonomic modulation of the sinus node. The correlation coefficients between serum thyroid hormone concentrations and parameters of the spectral HRV analysis were also computed. Results, The hyperthyroid patients revealed significant differences (P < 0·001) compared with the controls in the following HRV parameters: a decrease in total power (TP), very low frequency power (VLF), low frequency power (LF), high frequency power (HF), and HF in normalized units (HF%); and an increase in LF in normalized units (LF%) and in the ratio of LF to HF (LF/HF). After correction of hyperthyroidism in 28 patients, all of the above parameters were restored to levels comparable to those of the controls. In addition, serum thyroid hormone concentrations showed significant correlations with spectral HRV parameters. Conclusions, Hyperthyroidism is in a sympathovagal imbalanced state, characterized by both increased sympathetic and decreased vagal modulation of the heart rate. These autonomic dysfunctions can be detected simultaneously by spectral analysis of HRV, and the spectral HRV parameters could reflect the disease severity in hyperthyroid patients. [source] Standard Template of Adult MagnetocardiogramANNALS OF NONINVASIVE ELECTROCARDIOLOGY, Issue 4 2008Akihiko Kandori Ph.D. Background: We need to know the magnetocardiogram (MCG) features regarding waveform and two-dimensional current distribution in normal subjects in order to classify the abnormal waveform in patients with heart disease. However, a standard MCG waveform has not been produced yet, therefore, we have first made the standard template MCG waveform. Methods and Results: We used data from 464 normal control subjects' 64-channel MCGs (268 males, 196 females) to produce a template MCG waveform. The measured data were averaged after shortening or lengthening and normalization. The time interval and amplitude of the averaged data were adjusted to mean values obtained from a database. Furthermore, the current distributions (current arrow maps [CAMs]) were calculated from the produced templates to determine the current distribution pattern. The produced template of the QRS complex had a typical shape in six regions that we defined (M1, M2, M3, M4, M5, and M6). In the P wave, the main current arrow in CAMs pointing in a lower-left direction appeared in M1. In the QRS complex, the typical wave appeared in each region, and there were two main current arrows in M2 and M5. There were negative T waves in M1, M4, and M5, and positive T waves in M3 and M6, and the main current arrow pointing in a lower-left direction appeared in M2. Conclusion: Template MCG waveforms were produced. These morphologic features were classified into six regions, and the current distribution was characterized in each region. Consequently, the templates and classifications enable understanding MCG features and writing clinical reports. [source] | |||||||||||||||||||||||||