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Discordant
Kinds of Discordant Terms modified by Discordant Selected AbstractsMonozygous Twin Brothers Discordant for Photosensitive Epilepsy: First Report of Possible Visual Priming in HumansEPILEPSIA, Issue 9 2005Gerrit-Jan De Haan Summary:,Purpose: The interaction of genetic predisposition and the environment in the development of epilepsy is often discussed, but, aside from some animal reflex epilepsies, little evidence supports such interaction in the development of reflex epilepsy in humans. Methods: We describe the history of a 16-year-old boy in whom photosensitive epilepsy developed after a period of weekly exposures to high-intensity light flashes. Results: Both he and his clinically unaffected monozygotic twin were found to be photosensitive. Conclusions: This case report suggests that some genetic forms of human reflex epilepsy may be elicited by repeated environmental exposure to the appropriate stimulus, similar to some of the stimulus-induced epilepsies seen in animals. [source] National Study on Emergency Department Visits for Transient Ischemic Attack, 1992,2001ACADEMIC EMERGENCY MEDICINE, Issue 6 2006Jonathan A. Edlow MD Abstract Objectives: To describe the epidemiology of U.S. emergency department (ED) visits for transient ischemic attack (TIA) and to measure rates of antiplatelet medication use, neuroimaging, and hospitalization during a ten-year time period. Methods: The authors obtained data from the 1992,2001 National Hospital Ambulatory Medical Care Survey. TIA cases were identified by having ICD-9 code 435. Results: From 1992 to 2001, there were 769 cases, representing 2,969,000 ED visits for TIA. The population rate of 1.1 ED visits per 1,000 U.S. population (95% CI = 0.92 to 1.30) was stable over time. TIA was diagnosed in 0.3% of all ED visits. Physicians administered aspirin and other antiplatelet agents to a small percentage of patients, and 42% of TIA patients (95% CI = 29% to 55%) received no medications at all in the ED. Too few data points existed to measure a statistically valid trend over time. Physicians performed computed tomography scanning in 56% (95% CI = 45% to 66%) of cases and performed magnetic resonance imaging (MRI) in < 5% of cases, and there was a trend toward increased imaging over time. Admission rates did not increase during the ten-year period, with 54% (95% CI = 42% to 67%) admitted. Regional differences were noted, however, with the highest admission rate found in the Northeast (68%). Conclusions: Between 1992 and 2001, the population rate of ED visits for TIA was stable, as were admission rates (54%). Antiplatelet medications appear to be underutilized and to be discordant with published guidelines. Neuroimaging increased significantly. These findings may reflect the limited evidence base for the guidelines, educational deficits, or other barriers to guideline implementation. [source] Comparison of international and New Zealand guidelines for the care of pregnant women with diabetesDIABETIC MEDICINE, Issue 5 2006W. A. Cutchie Abstract Objective To compare international guidelines for the care of women with diabetes and pregnancy with reported current practice among New Zealand tertiary centres. Research design and methods A literature review of national and international guidelines for the care of women with diabetes in pregnancy was undertaken. Guideline activities were placed within nine facets of care, from preconception advice, through pregnancy from screening to follow-up. New Zealand tertiary centres guidelines were obtained and placed in the same framework. Results International guideline consensus was inconsistent across most facets of care. Those for the detection and diagnosis of gestational diabetes mellitus (GDM) were particularly discordant internationally, although intranational agreement has occurred. Conclusions International guidelines for the care of women with diabetes in pregnancy remain fragmented. The development of one set of guidelines based on the consensus of international best practice could overcome many of the misconceptions associated with diabetes in pregnancy. [source] Plasma nitrotyrosine levels, antioxidant vitamins and hyperglycaemiaDIABETIC MEDICINE, Issue 9 2005S. Bo Abstract Aims Studies on plasma nitrotyrosine (NT) levels, a measure of oxidative injury, in diabetes are limited and discordant; the amount of antioxidants might represent a possible explanation for the discordant results. The aim of this paper is to evaluate the association between plasma NT levels and glucose tolerance status, according to antioxidant vitamin intakes. Methods In three hundred men randomly selected from a population-based cohort, NT levels were measured and dietary intake assessed by a food-frequency questionnaire. Results NT values were similar in patients with diabetes (n = 34), impaired fasting glucose (n = 77) and normoglycaemic subjects (n = 189). However, in subjects with lower than recommended daily intakes of antioxidant vitamins C and A, NT levels were significantly higher in the diabetic patients. In a multiple regression model, after adjustments for age, body mass index (BMI) and smoking habits, NT levels were significantly associated with fasting glucose in patients with lower intakes of vitamin C (, = 11.4; 95% CI 1.3 21.5) and vitamin A (, = 14.9; 95% CI 3.9 25.9), but not in subjects with lower intake of vitamin E. Conclusion A significant positive correlation between NT levels and fasting glucose is evident only in the presence of a reduced intake of some antioxidant vitamins. These findings might explain, at least in part, the discrepant results of previous studies and, if confirmed by further studies, suggest a simple measure (a balanced diet) to alleviate the increased oxidative stress of diabetes. [source] The influence of the polymorphism in apolipoprotein B codon 2488 on insulin and lipid levels in a Danish twin populationDIABETIC MEDICINE, Issue 1 2002J. Bentzen Abstract Aims The apolipoprotein B codon 2488 polymorphism has been associated with the metabolism of lipoproteins in subjects with Type 2 diabetes. However, no data are available on the influence of the polymorphism on insulin or glucose metabolism. This study examines the impact of the polymorphism on parameters associated with the insulin resistance syndrome in Danish twins. Methods The effect of the polymorphism on lipid, glucose and insulin measures was studied in 548 same sex twins aged 55,74 years. Results The codon 2488 polymorphism influenced fasting triglyceride levels, as well as insulin, as measured at 120 min in an oral glucose tolerance test. Subjects with the genotype T2488T had 14% higher triglyceride levels (P = 0.02) and 31% higher insulin levels (P = 0.004) than subjects with genotype C2488C. In twins discordant for genotype, the T-allele was associated with higher levels of triglyceride (P = 0.04) and insulin (P = 0.02) and lower levels of HDL-cholesterol (P = 0.04). Conclusion The T-allele of the codon 2488 polymorphism influenced parameters related to the insulin resistance syndrome, i.e. increased levels of insulin, increased levels of triglyceride and decreased levels of HDL. As the polymorphism is silent, these effects must be mediated through linkage to other polymorphisms in apolipoprotein B or other genes on chromosome 2. [source] MATERIAL DEPRIVATION, THE ,POVERTY RATE' AND HOUSEHOLD EXPENDITURE IN MODERN AMERICA1ECONOMIC AFFAIRS, Issue 3 2007Nicholas Eberstadt The official US ,poverty rate' appears to be a problematic descriptor of poverty trends and levels. Reported results from the ,poverty rate' do not track well with other indicators that would ordinarily be expected to bear directly on living conditions. Over the past 30 years, the relationship between the official poverty rate and these other indicators has been perversely discordant. This article outlines the basis of the poverty rate and the problems it now encounters as a reliable measure of material deprivation. [source] Cognitive test scores in male adolescent cigarette smokers compared to non-smokers: a population-based studyADDICTION, Issue 2 2010Mark Weiser ABSTRACT Background Although previous studies indicate that people with lower intelligence quotient (IQ) scores are more likely to become cigarette smokers, IQ scores of siblings discordant for smoking and of adolescents who began smoking between ages 18,21 years have not been studied systematically. Methods Each year a random sample of Israeli military recruits complete a smoking questionnaire. Cognitive functioning is assessed by the military using standardized tests equivalent to IQ. Results Of 20 221 18-year-old males, 28.5% reported smoking at least one cigarette a day (smokers). An unadjusted comparison found that smokers scored 0.41 effect sizes (ES, P < 0.001) lower than non-smokers; adjusted analyses remained significant (adjusted ES = 0.27, P < 0.001). Adolescents smoking one to five, six to 10, 11,20 and 21+ cigarettes/day had cognitive test scores 0.14, 0.22, 0.33 and 0.5 adjusted ES poorer than those of non-smokers (P < 0.001). Adolescents who did not smoke by age 18, and then began to smoke between ages 18,21 had lower cognitive test scores compared to never-smokers (adjusted ES = 0.14, P < 0.001). An analysis of brothers discordant for smoking found that smoking brothers had lower cognitive scores than non-smoking brothers (adjusted ES = 0.27; P = 0.014). Conclusion Controlled analyses from this large population-based cohort of male adolescents indicate that IQ scores are lower in male adolescents who smoke compared to non-smokers and in brothers who smoke compared to their non-smoking brothers. The IQs of adolescents who began smoking between ages 18,21 are lower than those of non-smokers. Adolescents with poorer IQ scores might be targeted for programmes designed to prevent smoking. [source] Emergency Physician,Verified Out-of-hospital Intubation: Miss Rates by ParamedicsACADEMIC EMERGENCY MEDICINE, Issue 6 2004James H. Jones MD Abstract Objectives: To prospectively quantify the number of unrecognized missed out-of-hospital intubations by ground paramedics using emergency physician verification as the criterion standard for verification of endotracheal tube placement. Methods:The authors performed an observational, prospective study of consecutive intubated patients arriving by ground emergency medical services to two urban teaching hospitals. Endotracheal tube placement was verified by emergency physicians and evaluated by using a combination of direct visualization, esophageal detector device (EDD), colorimetric end-tidal carbon dioxide (ETCO2), and physical examination. Results: During the six-month study period, 208 out-of-hospital intubations by ground paramedics were enrolled, which included 160 (76.9%) medical patients and 48 (23.1%) trauma patients. A total of 12 (5.8%) endotracheal tubes were incorrectly placed outside the trachea. This comprised ten (6.3%) medical patients and two (4.2%) trauma patients. Of the 12 misplaced endotracheal tubes, a verification device (ETCO2 or EDD) was used in three cases (25%) and not used in nine cases (75%). Conclusions: The rate of unrecognized, misplaced out-of-hospital intubations in this urban, midwestern setting was 5.8%. This is more consistent with results of prior out-of-hospital studies that used field verification and is discordant with the only other study to exclusively use emergency physician verification performed on arrival to the emergency department. [source] Removal of benzo(a)pyrene diol epoxide (BPDE)-DNA adducts as a measure of DNA repair capacity in lymphoblastoid cell lines from sisters discordant for breast cancerENVIRONMENTAL AND MOLECULAR MUTAGENESIS, Issue 2 2002Grazyna Motykiewicz Abstract The mutagen sensitivity assay is one of the approaches used to investigate individual DNA repair capacity. This method is based on the premise that after in vitro treatment with a test mutagen, DNA from subjects with defective repair will be more damaged than DNA from those with an efficient repair system. However, very little is known about unmeasured processes that occur between cell treatment and final assessment of DNA damage. To develop a more precise assay, we modified the traditional mutagen sensitivity assay to also include measurement of DNA damage after culturing cells in the absence of mutagen. First, we treated apparently normal and xeroderma pigmentosum lymphoblastoid cell lines with various doses of benzo(a)pyrene diol epoxide (BPDE) and harvested cells at different time points. A polyclonal antiserum against BPDE-DNA was used to quantitate levels of adducts by immunoslot-blot and immunohistochemistry. Selected conditions included treatment with 10 ,M BPDE, a 4-hr culture in mutagen-free medium, and immunohistochemical measurement of BPDE-DNA adducts. The method was then applied in a pilot study to 50 lymphoblastoid lines from sisters discordant for breast cancer. There was no significant difference between cases and controls in the level of BPDE-DNA adducts in lymphoblasts harvested immediately after BPDE treatment. However, after a 4-hr culture in mutagen-free medium, the level of adducts was significantly higher (P = 0.006) among cases than in controls. There was a two-fold increase in mean adduct removal in lines from nonaffected as compared to affected sisters (44% and 22% decrease, respectively). DNA repair capacity was predictive of case status (P = 0.04) in logistic regression analysis. This method, which can be easily applied to large numbers of samples, should be useful in studies to investigate the role of DNA repair in cancer risk. Environ. Mol. Mutagen. 40:93,100, 2002. © 2002 Wiley-Liss, Inc. [source] Early cannabis use and DSM-IV nicotine dependence: a twin studyADDICTION, Issue 11 2008Arpana Agrawal ABSTRACT Background Evidence suggests that cannabis users are at increased risk for cigarette smoking,if so, this may potentially be the single most alarming public health challenge posed by cannabis use. We examine whether cannabis use prior to age 17 years is associated with an increased likelihood of DSM-IV nicotine dependence and the extent to which genetic and environmental factors contribute to this association. Methods A population-based cohort of 24,36-year-old Australian male and female twins (n = 6257, 286 and 229 discordant pairs) was used. The co-twin,control method, with twin pairs discordant for early cannabis use, was used to examine whether, after controlling for genetic and familial environmental background, there was evidence for an additional influence of early cannabis use on DSM-IV nicotine dependence. Bivariate genetic models were fitted to the full data set to quantify the genetic correlation between early cannabis use and nicotine dependence. Results The early cannabis-using twin was about twice as likely to report nicotine dependence, when compared to their co-twin who had experimented with cigarettes but had never used cannabis. Even when analyses were restricted to cannabis users, earlier age cannabis use onset conferred greater risk (1.7) for nicotine dependence than did later onset. This association was governed largely by common genetic liability to early cannabis use and nicotine dependence, as demonstrated by genetic correlations of 0.41,0.52. Conclusions Early-onset cannabis users are at increased risk for nicotine dependence, but this risk is attributable largely to common genetic vulnerability. There is no evidence for a causal relationship between cannabis use and nicotine dependence. [source] Physical activity in adolescence and smoking in young adulthood: a prospective twin cohort studyADDICTION, Issue 7 2007Urho M. Kujala ABSTRACT Aims To control for familial confounds, we studied the association between adolescent physical activity and later smoking in twin siblings discordant for their baseline physical activity. Design and measurements In this prospective population-based twin study, we asked whether persistent physical activity/inactivity in adolescence (assessed at 16, 17 and 18.5 years) predicted questionnaire-reported daily smoking at ages 22,27. Twins who, on the three baseline questionnaires, consistently reported frequent leisure physical activity (more than three times weekly) were classified as persistent exercisers, those who exercised less than three times monthly were called persistently inactive, others were occasional exercisers. Setting Finland. Participants A total of 4240 individuals, including 1870 twin pairs. Findings In analyses of individual twins, compared to persistent activity, persistent physical inactivity predicted increased risk of daily smoking (age- and sex-adjusted odds ratio 5.53, 95% confidence interval 3.88,7.88, P < 0.001). The risk remained elevated even after excluding all those who had smoked 50 cigarettes or more life-time at baseline and adjusted for educational level in adolescence. In within-pair analyses compared to the active members of discordant twin pairs, the physically inactive co-twins had increased risk of future daily smoking (sex-adjusted odds ratio 3.39, 95% confidence interval 1.56,7.39, P = 0.002). Conclusions Persistent physical inactivity in adolescence relates to adult smoking, even after familial factors are taken into account. [source] Gene expression analysis in absence epilepsy using a monozygotic twin designEPILEPSIA, Issue 9 2008Ingo Helbig Summary Purpose: To identify genes involved in idiopathic absence epilepsies by analyzing gene expression using a monozygotic (MZ) twin design. Methods: Genome-wide gene expression in lymphoblastoid cell lines (LCLs) was determined using microarrays derived from five discordant and four concordant MZ twin pairs with idiopathic absence epilepsies and five unaffected MZ twin pairs. Gene expression was analyzed using three strategies: discordant MZ twins were compared as matched pairs, MZ twins concordant for epilepsy were compared to control MZ twins, and a singleton design of affected versus unaffected MZ twin individuals was used irrespective of twin pairing. An overlapping gene list was generated from these analyses. Dysregulation of genes recognized from the microarray experiment was validated using quantitative real time PCR (qRT-PCR) in the twin sample and in an independent sample of 18 sporadic absence cases and 24 healthy controls. Results: Sixty-five probe sets were identified from the three combined microarray analysis strategies. Sixteen genes were chosen for validation and nine of these genes confirmed by qRT-PCR in the twin sample. Differential expression for EGR1 (an immediate early gene) and RCN2 (coding for the calcium-binding protein Reticulocalbin 2) were reconfirmed by qRT-PCR in the independent sample. Discussion: Using a unique sample of discordant MZ twins, our study identified genes with altered expression, which suggests novel mechanisms in idiopathic absence epilepsy. Dysregulation of EGR1 and RCN2 is implicated in idiopathic absence epilepsy. [source] Elevated cerebrospinal fluid adiponectin and adipsin levels in patients with multiple sclerosis: a Finnish co-twin studyEUROPEAN JOURNAL OF NEUROLOGY, Issue 2 2010A. Hietaharju Background and purpose:, The aim of this study was to investigate the levels of three adipocytokines: leptin, adiponectin and adipsin, in serum and cerebrospinal fluid (CSF) of twins discordant for multiple sclerosis (MS). Adipose tissue is an important component connecting immune system and several tissues and organs including CNS. Fat cells produce adipocytokines, which seem to have a role in various autoimmune disorders including MS. Methods:, Plasma samples were collected from twelve twins and CSF samples from four twins discordant for MS. The concentrations of interleukine (IL)-6, adiponectin, adipsin and leptin in plasma and CSF samples were determined by enzyme immuno assay. Results:, A significant difference was seen in the adipocytokine levels in CSF samples. Twins with MS had higher concentrations of adiponectin (P = 0.039) and adipsin (P = 0.039), than their asymptomatic co-twins. Conclusion:, As adiponectin and adipsin levels in CSF did not correlate with their levels in plasma, it seems that there could be a secondary intrathecal synthesis of these adipocytokines in MS. [source] EVIDENCE FOR HISTORICAL INTROGRESSION ALONG A CONTACT ZONE BETWEEN TWO SPECIES OF CHAR (PISCES: SALMONIDAE) IN NORTHWESTERN NORTH AMERICAEVOLUTION, Issue 5 2002Z. Redenbach Abstract Phylogeographic analyses can yield valuable insights into the geographic and historical contexts of contact and hybridization between taxa. Two species of char (Salmonidae), Dolly Varden (Salvelinus malma) and bull trout (S. confluentus) have largely parapatric distributions in watersheds of northwestern North America. They are, however, sympatric in several localities and hybridization and some introgression occurs across a broad area of contact. We conducted a comparative phylogenetic analysis of Dolly Varden and bull trout to gain a historical perspective of hybridization between these species and to test for footprints of historical introgression. We resolved two major Dolly Varden mitochondrial DNA (mtDNA) clades (with 1.4,2.2% sequence divergence between haplotypes) that had different geographical distributions. Clade N is distributed across most of the range of Dolly Varden, from southern British Columbia through to the Kuril Islands in Asia. Clade S had a much more limited distribution, from Washington state, at the southern limit of the Dolly Varden range, to the middle of Vancouver Island. The distribution and inferred ages of the mtDNA clades suggested that Dolly Varden survived the Wisconsinan glaciation in a previously unsuspected refuge south of the ice sheet, and that Dolly Varden and bull trout were probably in continuous contact over most of the last 100,000 years. When bull trout were included in the phylogenetic analysis, however, the mtDNA of neither species was monophyletic: Clade S Dolly Varden clustered within the bull trout mtDNA clade. This pattern was discordant with two nuclear phylogenies produced (growth hormone 2 and rRNA internal transcribed sequence 1), in which Dolly Varden and bull trout were reciprocally monophyletic. This discordance between mtDNA- and nDNA-based phylogenies indicates that historical introgression of bull trout mtDNA into Dolly Varden occurred. Percent sequence divergence within these introgressed Dolly Varden (clade S) was 0.2,0.6%, implying that the introgression occurred prior to the most recent glaciation. Our analysis and other evidence of contact between divergent lineages in northwestern North America strongly suggests that the area may be the site of previously unsuspected suture zones of aquatic biotas. [source] Possible involvement of epidermodysplasia verruciformis human papillomaviruses in the immunopathogenesis of psoriasis: a proposed hypothesisEXPERIMENTAL DERMATOLOGY, Issue 6 2003Slawomir Majewski Abstract:, We have shown previously in psoriasis a very high prevalence of epidermodysplasia verruciformis-associated human papillomavirus 5 (EVHPV5) DNA and antibodies to human papillomavirus 5 (HPV5) virus-like particle (VLP)L1, and we suggested that this benign hyperproliferative disorder could be a reservoir for EVHPVs. Here we provide new data confirming the expression of EVHPVs in psoriasis and present our hypothesis on their possible involvement in the immunopathogenesis of the disorder. The new important finding was detection by a radioimmunoprecipitation assay of a very high prevalence of antibodies to E6/E7 HPV5 oncoproteins, known to enhance keratinocyte proliferation. More recently, EV genes were identified, EVER1 and EVER2, whose mutations are responsible for epidermodysplasia verruciformis. Epidermodysplasia verruciformis-associated human papillomaviruses are harmless to the general population as a result of genetic restriction, which in psoriasis appears to be partly alleviated, and this may allow the viral gene expression. We hypothesize that induction of keratinocyte proliferation in psoriasis by various stimuli initiates the EVHPV life cycle with expression of early (E6/E7) and late (L1) viral proteins. The early proteins may, in turn, enhance the keratinocyte proliferation, and the late proteins could serve as a target for specific B- and T-cell-mediated responses. Immune responses against the viral antigens in the epidermis may result in chemoattraction of leukocytes and Munro abscess formation, as well as in production of proinflammatory cytokines, leading to self perpetuation of the psoriatic process. The novel immunomodulatory therapies could also inhibit immune responses against EVHPV proteins, leading to decreased cytokine production, keratinocyte proliferation and EVHPV expression. Thus the beneficial effect of these therapies is not discordant with the proposed hypothesis of possible involvement of EVHPVs in the immunopathogenesis of psoriasis. [source] Climatic influences and anthropogenic stressors: an integrated framework for streamflow management in Mediterranean-climate California, U.S.A.FRESHWATER BIOLOGY, Issue 2010THEODORE E. GRANTHAM Summary 1. In Mediterranean and other water-stressed climates, water management is critical to the conservation of freshwater ecosystems. To secure and maintain water allocations for the environment, integrated water management approaches are needed that consider ecosystem flow requirements, patterns of human water demands and the temporal and spatial dynamics of water availability. 2. Human settlements in Mediterranean climates have constructed water storage and conveyance projects at a scale and level of complexity far exceeding those in other, less seasonal climates. As a result, multiple ecological stressors associated with natural periods of flooding and drying are compounded by anthropogenic impacts resulting from water infrastructure development. 3. Despite substantial investments in freshwater ecosystem conservation, particularly in California, U.S.A., success has been limited because the scales at which river management and restoration are implemented are often discordant with the temporal and spatial scales at which ecosystem processes operate. Often, there is also strong social and political resistance to restricting water allocation to existing consumptive uses for environmental protection purposes. Furthermore, institutions rarely have the capacity to develop and implement integrated management programmes needed for freshwater ecosystem conservation. 4. We propose an integrated framework for streamflow management that explicitly considers the temporal and spatial dynamics of water supply and needs of both human and natural systems. This approach makes it possible to assess the effects of alternative management strategies to human water security and ecosystem conditions and facilitates integrated decision-making by water management institutions. 5. We illustrate the framework by applying a GIS-based hydrologic model in a Mediterranean-climate watershed in Sonoma County, California, U.S.A. The model is designed to assess the hydrologic impacts of multiple water users distributed throughout a stream network. We analyse the effects of vineyard water management on environmental flows to (i) evaluate streamflow impacts from small storage ponds designed to meet human water demands and reduce summer diversions, (ii) prioritise the placement of storage ponds to meet human water needs while optimising environmental flow benefits and (iii) examine the environmental and social consequences of flow management policies designed to regulate the timing of diversions to protect ecosystem functions. 6. Thematic implications: spatially explicit models that represent anthropogenic stressors (e.g. water diversions) and environmental flow needs are required to address persistent and growing threats to freshwater biodiversity. A coupled human,natural system approach to water management is particularly useful in Mediterranean climates, characterised by severe competition for water resources and high spatial and temporal variability in flow regimes. However, lessons learned from our analyses are applicable to other highly seasonal systems and those that are expected to have increased precipitation variability resulting from climate change. [source] Application of the 1988 International Headache Society Diagnostic Criteria in Nine Italian Headache Centers using a Computerized Structured RecordHEADACHE, Issue 10 2002Virgilio Gallai MD Background.,The actual application of the current International Headache Society (IHS) diagnostic criteria in clinical practice has not been investigated thoroughly. Objectives.,To develop a computerized, structured, medical record based exclusively on the IHS classification system. Design and Method.,We tested the computerized structured record by entering and analyzing data reported on the case sheets of 500 consecutive patients attending nine headache centers in Italy. All clinical diagnoses in the study were made according to current IHS criteria. The rate of concordance between the diagnosis provided by the computerized structured record and that reported by clinicians on the case sheets was calculated, and reasons for any discrepancies between the two diagnoses were analyzed. Results.,Concordance between the two diagnoses was found in 345 of 500 cases examined (69%). In the remaining 155 cases, diagnoses reached with the computerized structured record and case sheets were impossible or discordant with respect to the diagnoses made by the clinician. In 144 of these cases (28.8%), this was due to missing information or errors in the diagnosis recorded by the clinicians on the patient case sheet. In particular, the diagnosis could not be reached using the computerized structured record in 105 cases (20.6%) because of a lack of one or more data needed in formulating a correct diagnosis according to the IHS operational criteria for one of the primary headache disorders. In the remaining 41 cases some data were missing, but the data available were sufficient to reach a diagnosis according to the IHS criteria. Moreover, the diagnoses reached using the computerized structured record were not in agreement with those made by the clinicians in another 39 cases (7.9%) due to an incorrect interpretation by the clinicians of the data reported on the patients' case sheets. In only 2.2% of the cases (n = 11) misdiagnoses were due to errors of the program that were promptly corrected. Conclusions.,The present study suggests that incorrect application of IHS criteria for the diagnosis of primary headache may occur in as many as one third of patients attending headache centers and that use of a computerized structured record based exclusively on current IHS criteria may overcome this deficiency. [source] SAFE biopsy: A validated method for large-scale staging of liver fibrosis in chronic hepatitis C,HEPATOLOGY, Issue 6 2009Giada Sebastiani The staging of liver fibrosis is pivotal for defining the prognosis and indications for therapy in hepatitis C. Although liver biopsy remains the gold standard, several noninvasive methods are under evaluation for clinical use. The aim of this study was to validate the recently described sequential algorithm for fibrosis evaluation (SAFE) biopsy, which detects significant fibrosis (,F2 by METAVIR) and cirrhosis (F4) by combining the AST-to-platelet ratio index and Fibrotest-Fibrosure, thereby limiting liver biopsy to cases not adequately classifiable by noninvasive markers. Hepatitis C virus (HCV) patients (2035) were enrolled in nine locations in Europe and the United States. The diagnostic accuracy of SAFE biopsy versus histology, which is the gold standard, was investigated. The reduction in the need for liver biopsies achieved with SAFE biopsy was also assessed. SAFE biopsy identified significant fibrosis with 90.1% accuracy (area under the receiver operating characteristic curve = 0.89; 95% confidence interval, 0.87-0.90) and reduced by 46.5% the number of liver biopsies needed. SAFE biopsy had 92.5% accuracy (area under the receiver operating characteristic curve = 0.92; 95% confidence interval, 0.89-0.94) for the detection of cirrhosis, obviating 81.5% of liver biopsies. A third algorithm identified significant fibrosis and cirrhosis simultaneously with high accuracy and a 36% reduction in the need for liver biopsy. The patient's age and body mass index influenced the performance of SAFE biopsy, which was improved with adjusted Fibrotest-Fibrosure cutoffs. Two hundred two cases (9.9%) had discordant results for significant fibrosis with SAFE biopsy versus histology, whereas 153 cases (7.5%) were discordant for cirrhosis detection; 71 of the former cases and 56 of the latter cases had a Fibroscan measurement within 2 months of histological evaluation. Fibroscan confirmed SAFE biopsy findings in 83.1% and 75%, respectively. Conclusion: SAFE biopsy is a rational and validated method for staging liver fibrosis in hepatitis C with a marked reduction in the need for liver biopsy. It is an attractive tool for large-scale screening of HCV carriers. (HEPATOLOGY 2009.) [source] A comparison of early family life events amongst monozygotic twin women with lifetime anorexia nervosa, bulimia nervosa, or major depressionINTERNATIONAL JOURNAL OF EATING DISORDERS, Issue 8 2007Tracey D Wade PhD Abstract Objectives: To investigate the differential profile of early family life events associated with lifetime anorexia nervosa (AN), bulimia nervosa (BN), and major depression (MD). Method: Only data from the monozygotic twins (n = 622) were examined from a community sample of female twins who had participated in three waves of data collection. Eating disorder and MD diagnoses were ascertained from the Eating Disorder Examination at Wave 3 and interview at Wave 2 respectively. Early family events were ascertained from self-report measures at Waves 1 and 3. Two case control designs were used, including a comparison of women: (1) who had lifetime AN, BN, MD, and controls, and (2) twin pairs discordant for either AN, BN, or MD (where the unaffected cotwin formed the control group). Results: Across the two types of designs, compared to controls, both AN and BN were associated with more comments from the family about weight and shape when growing up. AN was uniquely associated with higher levels of paternal protection while BN was associated with higher levels of parental expectations. Conclusion: While some overlap among early life events was indicated, especially related to parental conflict and criticism, there was evidence to support some degree of nonoverlap among life events associated with AN, BN, and MD. © 2007 by Wiley Periodicals, Inc. Int J Eat Disord 2007 [source] Analysis of DEFB1 regulatory SNPs in cystic fibrosis patients from North-Eastern ItalyINTERNATIONAL JOURNAL OF IMMUNOGENETICS, Issue 3 2010L. Segat Summary Cystic fibrosis (CF) transmembrane regulator protein (CFTR) gene is undoubtedly the main genetic factor involved in the modulation of CF phenotype. However, other factors such as human defensins and the genes encoding for these antimicrobial peptides have been hypothesized as possible modifiers influencing airways infection in CF patients, but their role in the pathogenesis of lung disease is still debated. Since DEFB1 gene encoding for human beta-defensin 1 displays features such as antimicrobial or chemotactic activity playing a role in inflammation, it has been considered as a possible candidate CF modifier gene. We analysed three single nucleotide polymorphisms (SNPs) in the 5,-untranslated region of the DEFB1 gene (namely g-52G>A, g-44C>G and g-20G>A) in a group of 62 CF patients from North Eastern Italy, and in 130 healthy controls, with the aim of verifying the possible association of these functional SNPs with the pulmonary phenotype of CF patients. DEFB1 SNPs have been genotyped by using Taqman allele-specific fluorescent probes and a real-time PCR platform. No significant differences were found for allele, genotype and haplotype frequencies of DEFB1 g-52G>A, g-44C>G and g-20G>A SNPs in CF patients stratified for Pseudomonas aeruginosa infection, as well as in patients with a severe and mild clinical phenotype or in patients stratified for CFTR genotypes. DEFB1 allele, genotype and haplotype frequencies of CF patients globally considered were similar to those of healthy controls. Our findings are discordant with respect to another recent study performed on CF patients coming from Southern Italy, probably due to different ethnicity of the patients. [source] Peripheral blood vs. bone marrow for molecular monitoring of BCR-ABL1 levels in chronic myelogenous leukemia, a retrospective analysis in allogeneic bone marrow recipientsINTERNATIONAL JOURNAL OF LABORATORY HEMATOLOGY, Issue 4 2010A. BALLESTRERO Summary Molecular monitoring of the BCR-ABL1 transcript in chronic myelogenous leukemia (CML) using quantitative real-time PCR (RQ-PCR) can be performed using either bone marrow (BM) or peripheral blood (PB). However, a recent report by Stock et al. [International Journal of Oncology 28 (2006) 1099] questioned the reliability of PB samples for BCR-ABL1 detection as performed by RQ-PCR. We report a study on 114 CML patients who received allogeneic stem cell transplantation (ASCT), and who were monitored by RQ-PCR using paired samples of BM and PB: the total number of determinations was 428, with a median follow-up after transplant of 8 years. BCR-ABL1 transcript was undetectable or <0.1%, in 106 (49.57%) and 62 (29%) paired determinations, respectively. BCR-ABL1 was >0.1% in 36 (16.8%) paired determinations and was discordant in 10 (4.7%). Agreement between PB and BM results was quantified by the kappa test (k = 0.85; 95% CI 0.76,0.94). This study shows that BCR-ABL1 RQ-PCR monitoring of CML patients after ASCT with PB is concordant with BM in 95.3% of cases, and thus may be used to monitor the disease. This may be relevant when discussing both quality of life issues and the need for post-transplant monitoring with the patient. [source] Serum Lipid Levels and Cognitive Change in Late LifeJOURNAL OF AMERICAN GERIATRICS SOCIETY, Issue 3 2010Chandra A. Reynolds PhD OBJECTIVES: To assess the effect of lipids and lipoproteins on longitudinal cognitive performance and cognitive health in late life and to consider moderating factors such as age and sex that may clarify conflicting prior evidence. DESIGN: Prospective cohort study. SETTING: A 16-year longitudinal study of health and cognitive aging. PARTICIPANTS: Eight hundred nineteen adults from the Swedish Adoption Twin Study of Aging aged 50 and older at first cognitive testing, including 21 twin pairs discordant for dementia. MEASUREMENTS: Up to five occasions of cognitive measurements encompassing verbal, spatial, memory, and perceptual speed domains across a 16-year span; baseline serum lipids and lipoproteins including high-density lipoprotein cholesterol (HDL-C), apolipoprotein (apo)A1, apoB, total serum cholesterol, and triglycerides. RESULTS: The effect of lipids on cognitive change was most evident before age 65. In women, higher HDL-C and lower apoB and triglycerides predicted better maintenance of cognitive abilities, particularly verbal ability and perceptual speed, than age. Lipid values were less predictive of cognitive trajectories in men and, where observed, were in the contrary direction (i.e., higher total cholesterol and apoB values predicted better perceptual speed performance though faster rates of decline). In twin pairs discordant for dementia, higher total cholesterol and apoB levels were observed in the twin who subsequently developed dementia. CONCLUSION: High lipid levels may constitute a more important risk factor for cognitive health before age 65 than after. Findings for women are consistent with clinical recommendations, whereas for men, the findings correspond with earlier age-associated shifts in lipid profiles and the importance of lipid homeostasis to cognitive health. [source] Long-Term Leisure Time Physical Activity and Properties of Bone: A Twin Study,,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 8 2009Hongqiang Ma Abstract Effects of physical activity on bone properties, when controlled for genetic effects, are not fully understood. We aimed to study the association between long-term leisure time physical activity (LTPA) and bone properties using twin pairs known to be discordant for leisure time physical activity for at least 30 yr. Volumetric BMD and geometric properties were measured at the tibia shaft and distal end using pQCT in 16 middle-aged (50,74 yr) same-sex twin pairs (seven monozygotic [MZ] and nine dizygotic [DZ] pairs) selected from a population-based cohort. Paired differences between active and inactive co-twins were studied. Active members of MZ twin pairs had larger cortical bone cross-sectional area (intrapair difference: 8%, p = 0.006), thicker cortex (12%, p = 0.003), and greater moment of inertia (Imax, 20%, p = 0.024) at the tibia shaft than their inactive co-twins. At the distal tibia, trabecular BMD (12%, p = 0.050) and compressive strength index (18%, p = 0.038) were also higher in physically active MZ pair members than their inactive co-twins. The trends were similar, but less consistently so, in DZ pairs as in MZ pairs. Our genetically controlled study design shows that LTPA during adulthood strengthens bones in a site-specific manner, that is, the long bone shaft has a thicker cortex, and thus higher bending strength, whereas the distal bone has higher trabecular density and compressive strength. These results suggest that LTPA has a potential causal role in decreasing the long-term risk of osteoporosis and thus preventing osteoporotic fractures. [source] Large-Scale Genome-Wide Linkage Analysis for Loci Linked to BMD at Different Skeletal Sites in Extreme Selected Sibships,JOURNAL OF BONE AND MINERAL RESEARCH, Issue 2 2007Yi-Hsiang Hsu Abstract Few genome-wide linkage studies of osteoporosis have been conducted in the Asian population. We performed a genome-wide scan involving 3093 adult siblings with at least one sib-pair extremely concordant or discordant for hip BMD. Our results indicated four genome-wide significant QTLs for BMD. In comparison with 12 previous reported linkage studies, we reveal novel linkage regions that have reaching global significance. Introduction: The genetic basis for osteoporosis has been firmly established, but efforts to identify genes associated with this complex trait have been incomplete, especially in Asian populations. The purpose of this study was to identify quantitative trait loci (QTLs) for BMD in a Chinese population. Materials and Methods: We performed a genome-wide scan involving 3093 siblings 25,64 years of age from 941 families, with at least one sib-pair extreme concordant or discordant for total hip BMD from a large community-based cohort (n = 23,327) in Anhui, China. Linkage analysis was performed on BMD residuals adjusted for age, height, weight, occupation, cigarette smoking, physical activity, and alcohol consumption using the revised Haseman-Elston regression-based linkage model. Results: Our results revealed significant QTLs on chromosome 7p21.2 for femoral neck BMD (LOD = 3.68) and on chromosome 2q24.3 for total hip BMD (LOD = 3.65). Suggestive linkage regions were found to overlap among different skeletal sites on chromosomes 2q, 7p, and 16q. Sex-specific linkage analysis further revealed a significant QTL for lumbar spine BMD on chromosome 13q21.1 (LOD = 3.62) in women only. When performing multivariate linkage analysis by combining BMDs at four skeletal sites (i.e., whole body, total hip, femoral neck, and lumbar spine BMD), an additional significant QTL was found at chromosome 5q21.2 (LOD = 4.56). None of these significant QTLs found in our study overlapped with major QTLs reported by other studies. Conclusions: This study reveals four novel QTLs in a Chinese population and suggests that BMD at different skeletal sites may also share common genetic determinants. [source] Dissociation Between Coronary Sinus and Left Atrial Conduction in Patients with Atrial Fibrillation and FlutterJOURNAL OF CARDIOVASCULAR ELECTROPHYSIOLOGY, Issue 6 2001GJIN NDREPEPA M.D. Dissociation Between CS and LA Conduction.Introduction: Coronary sinus (CS) recordings are routinely used during electrophysiologic studies for various supraventricular and ventricular arrhythmias with the understanding that they represent left atrial (LA) activity. However, the behavior of CS electrical activity during atrial arrhythmias has not drawn any special attention beyond standard considerations. Methods and Results: The study population consisted of 9 patients (3 women; mean age 59 ± 11 years) with atrial fibrillation (AF) and atrial flutter (AFL) who developed dissociation of conduction between the CS and posterior LA during spontaneous AF and AFL. In all patients, the LA and the CS were mapped using a 64-electrode basket catheter and a multipolar electrode catheter, respectively. The right atrium (RA) was mapped simultaneously using a 24-polar electrode catheter (7 patients) or a 64-electrode basket catheter (2 patients). Eight patients showed stable double potentials in CS recordings during AF (9 episodes) and AFL (3 episodes). During ongoing arrhythmias, the first row of potentials maintained a constant relationship with the RA activity, whereas the second row of potentials was discordant with the posterior wall of the LA in 7 patients and concordant in 2 patients. In 1 patient with counterclockwise AFL, CS activation was isolated from the posterior wall of the RA until it reached the distal portion of the CS, after which it entered the lateral region of the LA. In 1 patient, a macroreentrant LA tachycardia involving CS muscle was observed. Rapid atrial pacing from the proximal CS and extrastimuli produced longitudinal dissociation of CS activation in all patients. Conclusion: Conduction between the CS and posterior LA can be dissociated during spontaneous atrial arrhythmias and provocative proximal CS pacing. [source] Use of sodium concentration and anion gap to improve correlation between serum chloride and bicarbonate concentrationsJOURNAL OF CLINICAL LABORATORY ANALYSIS, Issue 4 2006Mark Feldman Abstract Although most acid-base disorders cause opposite and equal changes in serum chloride and bicarbonate concentrations, this inverse relationship can be distorted by changes in the anion gap and/or water balance. Therefore, we examined the relationship between chloride and bicarbonate before and after adjusting for anion gap and serum sodium concentration. Patients with abnormal electrolytes were grouped by chloride and bicarbonate concentrations (low, normal, and high). Then, chloride and anion gap-adjusted bicarbonate were adjusted for water excess (or deficit), manifesting as hyponatremia (or hypernatremia), after which patients were reclassified. Classification by chloride and bicarbonate changed in 82% of the 135 patients after adjustment for anion gap and sodium. Serum chloride and bicarbonate were each low (concordant) in 23 patients, while 18 had discordant chlorides and bicarbonates (9 low/high, 9 high/low). After adjustments, chloride and bicarbonate were discordant in 40 patients (31 low/high, 9 high/low) and concordant in none. The correlation between serum chloride and bicarbonate improved from ,0.459 to ,0.998 after adjustments for sodium and anion gap. A very close inverse relationship between serum chloride and bicarbonate concentrations is commonly distorted by concomitant water disturbances and anion gap acidoses in internal medicine patients admitted with electrolyte disorders. J. Clin. Lab. Anal. 20:154,159, 2006. © 2006 Wiley-Liss, Inc. [source] Monozygotic twins are discordant for chronic periodontitis: clinical and bacteriological findingsJOURNAL OF CLINICAL PERIODONTOLOGY, Issue 2 2010Gaudy L. Torres de Heens Torres de Heens GL, Loos BG, van der Velden U. Monozygotic twins are discordant for chronic periodontitis: clinical and bacteriological findings. J Clin Periodontol 2010; 37: 120,128. doi: 10.1111/j.1600-051X.2009.01511.x. Abstract Objectives: The aim of this study was to assess, in monozygotic (MZ) and dizygotic (DZ) twin pairs in whom the proband of the twin pair was suffering from moderate to severe chronic periodontitis, the contribution of genetics, periodontal pathogens and lifestyle factors towards the clinical phenotype. Material and Methods: For this study, 18 adult twin pairs were selected on the basis of interproximal attachment loss (AL) 5 mm in 2 non-adjacent teeth in one twin member. The study included 10 MZ and eight DZ twin pairs, in whom the periodontal condition, presence of periodontal pathogens, educational level, smoking behaviour and body mass index (BMI) were evaluated. Results: Both MZ and DZ twins were discordant regarding AL and alveolar bone loss. Discordance was greater in DZ compared with MZ twins. In MZ twins, the discordance could not be explained by education, smoking, BMI and periodontal pathogens. In DZ twins, 45.6% of the discordance could be explained by more pack-years of the probands. Conclusion: The results confirm a possible role of genetic factors in periodontitis. However, the magnitude of the genetic effects on disease severity may have been overestimated previously. [source] Sonographically guided fine needle aspiration of thyroid nodule: Discrepancies between cytologic and histopathologic findingsJOURNAL OF CLINICAL ULTRASOUND, Issue 1 2008Young Hen Lee MD Abstract Purpose To analyze the discrepancies between the cytologic results of sonographically (US)-guided fine needle aspiration (FNA) of thyroid nodules and final histopathologic results and to discuss the limitations of US-guided FNA. Materials and Methods The results of US-guided FNAs performed by a single experienced radiologist in 315 thyroid nodules in 292 patients (246 women, 46 men aged 12,79 years) were retrospectively correlated with their surgical pathologic results. The FNA results were classified as nondiagnostic, indeterminate, negative, or positive, whereas final pathologic diagnoses were classified as malignant or benign. Results The FNA results were nondiagnostic in 31 cases (9.8%), indeterminate in 97 cases (30.8%), and determinate in 187 cases (59.4%). Of the 187 conclusive cases, 169 (90.4%) were concordant with the final pathologic results, whereas 18 (9.6%) were discordant with 14 false-positive and 4 false-negative results. These discrepancies were caused by atypical nuclear features. Among the 97 indeterminate and 31 nondiagnostic cases, a malignancy was found in 14 (14.4%) and 8 (25.8%) cases, respectively. In addition, 10 papillary carcinomas, which were not visualized on sonograms, were detected incidentally in thyroidectomy specimens. Conclusion The diagnostic accuracy of US-guided FNA of thyroid nodule has limitations that should be minimized by careful interpretation of the cytologic findings and accurate sampling. © 2007 Wiley Periodicals, Inc. J Clin Ultrasound, 2008 [source] Molecular diagnosis of basal cell carcinoma and other basaloid cell neoplasms of the skin by the quantification of Gli1 transcript levelsJOURNAL OF CUTANEOUS PATHOLOGY, Issue 2 2005Naohito Hatta Background:, Distinguishing basal cell carcinoma (BCC) from other benign and malignant skin tumors is sometimes a difficult task for the pathologists. Because the activation of hedgehog signals and the up-regulation of its critical transcriptional factor Gli1 are well documented in BCC, a molecular technique measuring Gli1 transcripts may aide the diagnosis. Methods:,Gli1 transcript levels were measured by real-time quantitative reverse transcriptase polymerase chain reaction (RT-PCR) using RNA extracted from formalin-fixed, paraffin-embedded tissues of 68 cases of various skin tumors. Hematoxylin and eosin-stained pathology slides were independently reviewed by three expert dermatopathologists. Results:, The histological diagnoses were unambiguous in 53 tumors. The tumors included BCC (21), squamous cell carcinoma (13), seborrheic keratoses (8), trichoepithelioma (5), eccrine poroma/porocarcinoma (4), and sebaceous epithelioma/carcinoma (2). In these unambiguous cases, all BCC and trichoepithelioma tumors showed high expression of Gli1mRNA, while the expression was virtually absent in other tumors. The diagnosis was discordant among three pathologists in the remaining 15 tumors. Histological diagnoses included BCC, BCC with sebaceous differentiation, sebaceoma/sebaceous epithelioma, trichoblastoma, trichoepithelioma, basaloid follicular harmartoma, basosquamous carcinoma, etc. Six of them showed high Gli1 transcript levels. Conclusions:, Quantification of Gli1 transcripts by RT-PCR is helpful in discriminating BCC and trichoepithelioma from other skin tumors. [source] Social status determines sexual phenotype in the bi-directional sex changing bluebanded goby Lythrypnus dalliJOURNAL OF FISH BIOLOGY, Issue 6 2007E. W. Rodgers The behavioural mechanisms and patterns of protandrous sex change in bluebanded gobies Lythrypnus dalli were investigated and compared to the well-described behaviour patterns of protogynous sex change. To do this, unisex groups of males and females were established; behavioural and anatomical changes were recorded over a 42 day period as social status and sexual phenotype were determined. In all cases, social status, rather than the expression of a particular behaviour, accurately predicted final sexual phenotype. Rates of submissive behaviour, but not aggressive behaviour, were predictive of each discrete status class. Multiple individuals changed sex simultaneously if their sexual phenotype and social status were discordant, a novel finding suggesting that once a social hierarchy is established, individuals determined their sexual phenotype, regardless of initial sex, based on a simple operational principle: if subordinate express female, if dominant or not subordinate express male. This work demonstrates that similar mechanisms underlie sex change in both directions in L. dalli and potentially other sex changing species. [source] | ||||||||||||||||||||||||||||||||||||||||