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Sample records for med genet neuropsychiatr

  1. Critical Issues in BDNF Val66Met Genetic Studies of Neuropsychiatric Disorders

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    Shih-Jen Tsai

    2018-05-01

    Full Text Available Neurotrophins have been implicated in the pathophysiology of many neuropsychiatric diseases. Brain-derived neurotrophic factor (BDNF is the most abundant and widely distributed neurotrophin in the brain. Its Val66Met polymorphism (refSNP Cluster Report: rs6265 is a common and functional single-nucleotide polymorphism (SNP affecting the activity-dependent release of BDNF. BDNF Val66Met transgenic mice have been generated, which may provide further insight into the functional impact of this polymorphism in the brain. Considering the important role of BDNF in brain function, more than 1,100 genetic studies have investigated this polymorphism in the past 15 years. Although these studies have reported some encouraging positive findings initially, most of the findings cannot be replicated in following studies. These inconsistencies in BDNF Val66Met genetic studies may be attributed to many factors such as age, sex, environmental factors, ethnicity, genetic model used for analysis, and gene–gene interaction, which are discussed in this review. We also discuss the results of recent studies that have reported the novel functions of this polymorphism. Because many BDNF polymorphisms and non-genetic factors have been implicated in the complex traits of neuropsychiatric diseases, the conventional genetic association-based method is limited to address these complex interactions. Future studies should apply data mining and machine learning techniques to determine the genetic role of BDNF in neuropsychiatric diseases.

  2. Genetic risk for autism spectrum disorders and neuropsychiatric variation in the general population

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    Robinson, Elise B; St Pourcain, Beate; Anttila, Verneri

    2016-01-01

    Almost all genetic risk factors for autism spectrum disorders (ASDs) can be found in the general population, but the effects of this risk are unclear in people not ascertained for neuropsychiatric symptoms. Using several large ASD consortium and population-based resources (total n > 38,000), we...... and developmental traits, the severe tail of which can result in diagnosis with an ASD or other neuropsychiatric disorder. A continuum model should inform the design and interpretation of studies of neuropsychiatric disease biology....

  3. Mediator Complex Subunits MED2, MED5, MED16, and MED23 Genetically Interact in the Regulation of Phenylpropanoid Biosynthesis.

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    Dolan, Whitney L; Dilkes, Brian P; Stout, Jake M; Bonawitz, Nicholas D; Chapple, Clint

    2017-12-01

    The phenylpropanoid pathway is a major global carbon sink and is important for plant fitness and the engineering of bioenergy feedstocks. In Arabidopsis thaliana , disruption of two subunits of the transcriptional regulatory Mediator complex, MED5a and MED5b, results in an increase in phenylpropanoid accumulation. By contrast, the semidominant MED5b mutation reduced epidermal fluorescence4-3 ( ref4-3 ) results in dwarfism and constitutively repressed phenylpropanoid accumulation. Here, we report the results of a forward genetic screen for suppressors of ref4-3. We identified 13 independent lines that restore growth and/or phenylpropanoid accumulation in the ref4-3 background. Two of the suppressors restore growth without restoring soluble phenylpropanoid accumulation, indicating that the growth and metabolic phenotypes of the ref4-3 mutant can be genetically disentangled. Whole-genome sequencing revealed that all but one of the suppressors carry mutations in MED5b or other Mediator subunits. RNA-seq analysis showed that the ref4-3 mutation causes widespread changes in gene expression, including the upregulation of negative regulators of the phenylpropanoid pathway, and that the suppressors reverse many of these changes. Together, our data highlight the interdependence of individual Mediator subunits and provide greater insight into the transcriptional regulation of phenylpropanoid biosynthesis by the Mediator complex. © 2017 American Society of Plant Biologists. All rights reserved.

  4. Neuropsychiatric autoimmune encephalitis without VGKC-complex, NMDAR, and GAD autoantibodies: case report and literature review.

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    Najjar, Souhel; Pearlman, Daniel; Devinsky, Orrin; Najjar, Amanda; Nadkarni, Siddhartha; Butler, Tracy; Zagzag, David

    2013-03-01

    We report a patient with a seronegative autoimmune panencephalitis, adding a subtype to the emerging spectrum of seronegative autoimmune encephalitis, and we review the sparse literature on isolated psychiatric presentations of autoimmune encephalitis. (A PubMed search for "seronegative autoimmune encephalitis," "nonvasculitic autoimmune inflammatory meningoencephalitis," and related terms revealed VGKC)-complex, N-methyl-D-aspartate receptor (NMDAR), and glutamic acid decarboxylase (GAD) autoantibodies. We excluded genetic, metabolic, paraneoplastic, degenerative, and infectious etiologies. The patient's symptoms remitted fully with immune therapy, but recurred in association with widespread bihemispheric brain lesions. Brain biopsy revealed mild nonvasculitic inflammation and prominent vascular hyalinization. Immune therapy with plasma exchanges cleared the MRI abnormalities but, 10 years after onset, the patient still suffers neuropsychiatric sequelae. We conclude that autoimmune panencephalitis seronegative for VGKC-complex, NMDAR, and GAD autoantibodies is a subtype of autoimmune encephalitis that can present with pure neuropsychiatric features and a normal brain MRI. Immunologic mechanisms may account for psychiatric symptoms in a subset of patients now diagnosed with classical psychotic disorders. Delay in starting immune therapy can lead to permanent neuropsychiatric sequelae. We propose a standardized classification system for the autoimmune encephalitides, integrating earlier pathology-oriented terms with more recently defined serologic and clinical phenotypes.

  5. Neural markers of errors as endophenotypes in neuropsychiatric disorders

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    Dara S Manoach

    2013-07-01

    Full Text Available Learning from errors is fundamental to adaptive human behavior. It requires detecting errors, evaluating what went wrong, and adjusting behavior accordingly. These dynamic adjustments are at the heart of behavioral flexibility and accumulating evidence suggests that deficient error processing contributes to maladaptively rigid and repetitive behavior in a range of neuropsychiatric disorders. Neuroimaging and electrophysiological studies reveal highly reliable neural markers of error processing. In this review, we evaluate the evidence that abnormalities in these neural markers can serve as sensitive endophenotypes of neuropsychiatric disorders. We describe the behavioral and neural hallmarks of error processing, their mediation by common genetic polymorphisms, and impairments in schizophrenia, obsessive-compulsive disorder, and autism spectrum disorders. We conclude that neural markers of errors meet several important criteria as endophenotypes including heritability, established neuroanatomical and neurochemical substrates, association with neuropsychiatric disorders, presence in syndromally-unaffected family members, and evidence of genetic mediation. Understanding the mechanisms of error processing deficits in neuropsychiatric disorders may provide novel neural and behavioral targets for treatment and sensitive surrogate markers of treatment response. Treating error processing deficits may improve functional outcome since error signals provide crucial information for flexible adaptation to changing environments. Given the dearth of effective interventions for cognitive deficits in neuropsychiatric disorders, this represents a promising approach.

  6. Neural markers of errors as endophenotypes in neuropsychiatric disorders.

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    Manoach, Dara S; Agam, Yigal

    2013-01-01

    Learning from errors is fundamental to adaptive human behavior. It requires detecting errors, evaluating what went wrong, and adjusting behavior accordingly. These dynamic adjustments are at the heart of behavioral flexibility and accumulating evidence suggests that deficient error processing contributes to maladaptively rigid and repetitive behavior in a range of neuropsychiatric disorders. Neuroimaging and electrophysiological studies reveal highly reliable neural markers of error processing. In this review, we evaluate the evidence that abnormalities in these neural markers can serve as sensitive endophenotypes of neuropsychiatric disorders. We describe the behavioral and neural hallmarks of error processing, their mediation by common genetic polymorphisms, and impairments in schizophrenia, obsessive-compulsive disorder, and autism spectrum disorders. We conclude that neural markers of errors meet several important criteria as endophenotypes including heritability, established neuroanatomical and neurochemical substrates, association with neuropsychiatric disorders, presence in syndromally-unaffected family members, and evidence of genetic mediation. Understanding the mechanisms of error processing deficits in neuropsychiatric disorders may provide novel neural and behavioral targets for treatment and sensitive surrogate markers of treatment response. Treating error processing deficits may improve functional outcome since error signals provide crucial information for flexible adaptation to changing environments. Given the dearth of effective interventions for cognitive deficits in neuropsychiatric disorders, this represents a potentially promising approach.

  7. [Auto-immune disorders as a possible cause of neuropsychiatric syndromes].

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    Martinez-Martinez, P; Molenaar, P C; Losen, M; Hoffmann, C; Stevens, J; de Witte, L D; van Amelsvoort, T; van Os, J; Rutten, B P F

    2015-01-01

    Changes that occur in the behaviour of voltage-gated ion channels and ligand-gated receptor channels due to gene mutations or auto-immune attack are the cause of channelopathies in the central and peripheral nervous system. Although the relation between molecular channel defects and clinical symptoms has been explained in the case of many neuromuscular channelopathies, the pathophysiology of auto-immunity in neuropsychiatric syndromes is still unclear. To review recent findings regarding neuronal auto-immune reactions in severe neuropsychiatric syndromes. Using PubMed, we consulted the literature published between 1990 and August 2014 relating to the occurrence of auto-immune antibodies in severe and persistent neuropsychiatric syndromes. Auto-antibodies have only limited access to the central nervous system, but if they do enter the system they can, in some cases, cause disease. We discuss recent findings regarding the occurrence of auto-antibodies against ligand-activated receptor channels and potassium channels in neuropsychiatric and neurological syndromes, including schizophrenia and limbic encephalitis. Although the occurrence of several auto-antibodies in schizophrenia has been confirmed, there is still no proof of a causal relationship in the syndrome. We still have no evidence of the prevalence of auto-immunity in neuropsychiatric syndromes. The discovery that an antibody against an ion channel is associated with some neuropsychiatric disorders may mean that in future it will be possible to treat patients by means of immunosuppression, which could lead to an improvement in a patient's cognitive abilities.

  8. Editorial: Illuminating the dark matter of developmental neuropsychiatric genetics - strategic focus for future research in child psychology and psychiatry.

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    Lesch, Klaus-Peter

    2014-03-01

    Research on genetic factors influencing cognitive and behavioural traits or which are central to the aetiology of neuropsychiatric diseases has been complicated by a furtive discrepancy between high heritability estimates and a scarcity of replicable gene-disorder associations. This 'missing heritability' has been either euphemised as the 'dark matter' of gene-trait association or aggravated as the 'looming crisis in behavioural genetics'. Nevertheless, in recognising the importance of this topic for our understanding of child psychiatric conditions and highlighting its commitment to the field, the Journal of Child Psychology and Psychiatry (JCPP) has for the first time appointed an editor with special responsibility for molecular (epi)genetics. © 2014 The Authors. Journal of Child Psychology and Psychiatry. © 2014 Association for Child and Adolescent Mental Health.

  9. The association between childhood autistic traits and adolescent psychotic experiences is explained by general neuropsychiatric problems.

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    Cederlöf, Martin; Pettersson, Erik; Sariaslan, Amir; Larsson, Henrik; Östberg, Per; Kelleher, Ian; Långström, Niklas; Gumpert, Clara Hellner; Lundström, Sebastian; Lichtenstein, Paul

    2016-03-01

    Studies suggest associations between childhood autistic traits and adolescent psychotic experiences. However, recent research suggests that a general neuropsychiatric problems factor predicts adverse outcomes better than specific diagnostic entities. To examine if the alleged association between autistic traits and psychotic experiences could rather be explained by a general neuropsychiatric problems factor comprising symptoms of ADHD, tic disorder, developmental coordination disorder, and learning disorder, we conducted a prospective cohort study based on the Child and Adolescent Twin Study in Sweden. In addition, we examined the genetic and environmental influences on the associations. A total of 9,282 twins with data on childhood autistic traits and other neuropsychiatric problems, and follow-up data on psychotic experiences at ages 15 and/or 18 years were included. First, psychotic experiences were regressed on autistic traits and second, the general neuropsychiatric problems factor was added to the model. Auditory hallucinations were analyzed separately from the other psychotic experiences. Finally, twin analyses were employed to disentangle genetic from environmental influences in the observed associations. Replicating prior research, significant associations were found between autistic traits in childhood and auditory hallucinations at ages 15 and 18. However, after controlling for the general neuropsychiatric problems factor, the associations between autistic traits and auditory hallucinations disappeared, whereas the association between the general neuropsychiatric problems factor and auditory hallucinations persisted after controlling for autistic traits. Twin analyses revealed that the association between the general neuropsychiatric problems factor and auditory hallucinations was driven by shared genetic influences. © 2015 Wiley Periodicals, Inc. © 2015 Wiley Periodicals, Inc.

  10. The potential relevance of docosahexaenoic acid and eicosapentaenoic acid to the etiopathogenesis of childhood neuropsychiatric disorders.

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    Tesei, Alessandra; Crippa, Alessandro; Ceccarelli, Silvia Busti; Mauri, Maddalena; Molteni, Massimo; Agostoni, Carlo; Nobile, Maria

    2017-09-01

    Over the last 15 years, considerable interest has been given to the potential role of omega-3 polyunsaturated fatty acids (PUFAs) for understanding pathogenesis and treatment of neurodevelopmental and psychiatric disorders. This review aims to systematically investigate the scientific evidence supporting the hypothesis on the omega-3 PUFAs deficit as a risk factor shared by different pediatric neuropsychiatric disorders. Medline PubMed database was searched for studies examining blood docosahexaenoic acid (DHA) or eicosapentaenoic acid (EPA) status in children with neuropsychiatric disorders. Forty-one published manuscripts were compatible with the search criteria. The majority of studies on attention-deficit/hyperactivity disorder (ADHD) and autism found a significant decrease in DHA levels in patients versus healthy controls. For the other conditions examined-depression, juvenile bipolar disorder, intellectual disabilities, learning difficulties, and eating disorders (EDs)-the literature was too limited to draw any stable conclusions. However, except EDs, findings in these conditions were in line with results from ADHD and autism studies. Results about EPA levels were too inconsistent to conclude that EPA could be associated with any of the conditions examined. Finally, correlational data provided, on one hand, evidence for a negative association between DHA and symptomatology, whereas on the other hand, evidence for a positive association between EPA and emotional well-being. Although the present review underlines the potential involvement of omega-3 PUFAs in the predisposition to childhood neuropsychiatric disorders, more observational and intervention studies across different diagnoses are needed, which should integrate the collection of baseline PUFA levels with their potential genetic and environmental influencing factors.

  11. N-acetylcysteine for neuropsychiatric symptoms in a woman with Williams syndrome.

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    Pineiro, Mildred Lopez; Roberts, Antoinette M; Waxler, Jessica L; Mullett, Jennifer E; Pober, Barbara R; McDougle, Christopher J

    2014-11-01

    Williams syndrome is a relatively rare genetic disorder caused by the hemizygous microdeletion of a region in chromosome 7q11.23. Individuals with Williams syndrome typically present with a highly social, overfriendly, and empathic personality. Comorbid medical and neuropsychiatric disorders are common. Reports of effective pharmacological treatment of associated neuropsychiatric disorders are limited. The authors describe the successful treatment of interfering anger, aggression, and hair-pulling with N-acetylcysteine in a 19-year-old woman with Williams syndrome. The neuropsychiatric symptoms emerged 1 week following an upper gastrointestinal endoscopy, for which fentanyl, midazolam, and propofol were used as anesthetics. The patient's treatment course and hypothesized mechanisms underlying the clinical presentation and symptom resolution are described. © The Author(s) 2014.

  12. The best-laid plans go oft awry: synaptogenic growth factor signaling in neuropsychiatric disease

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    Aislinn Joanmarie Williams

    2014-03-01

    Full Text Available Growth factors play important roles in synapse formation. Mouse models of neuropsychiatric diseases suggest that defects in synaptogenic growth factors, their receptors, and signaling pathways can lead to disordered neural development and various behavioral phenotypes, including anxiety, memory problems, and social deficits. Genetic association studies in humans have found evidence for similar relationships between growth factor signaling pathways and neuropsychiatric phenotypes. Accumulating data suggest that dysfunction in neuronal circuitry, caused by defects in growth factor-mediated synapse formation, contributes to the susceptibility to multiple neuropsychiatric diseases, including epilepsy, autism, and disorders of thought and mood (e.g. schizophrenia and bipolar disorder, respectively. In this review, we will focus on how specific synaptogenic growth factors and their downstream signaling pathways might be involved in the development of neuropsychiatric diseases.

  13. Next-generation sequencing in schizophrenia and other neuropsychiatric disorders.

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    Schreiber, Matthew; Dorschner, Michael; Tsuang, Debby

    2013-10-01

    Schizophrenia is a debilitating lifelong illness that lacks a cure and poses a worldwide public health burden. The disease is characterized by a heterogeneous clinical and genetic presentation that complicates research efforts to identify causative genetic variations. This review examines the potential of current findings in schizophrenia and in other related neuropsychiatric disorders for application in next-generation technologies, particularly whole-exome sequencing (WES) and whole-genome sequencing (WGS). These approaches may lead to the discovery of underlying genetic factors for schizophrenia and may thereby identify and target novel therapeutic targets for this devastating disorder. © 2013 Wiley Periodicals, Inc.

  14. Efficacy of music therapy in the neuropsychiatric symptoms of dementia: systematic review

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    Mariângela Aparecida Rezende Aleixo

    Full Text Available ABSTRACT Objective A large number of psychosocial interventions in dementia are based on music activities and music therapy interventions. We aim at assessing the efficacy of music therapy in the neuropsychiatric symptoms of people with dementia. Methods This systematic review is according to the methodology suggested by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses. We searched for articles in PubMed, Web of Knowledge Cross Search, Cochrane Library, Scopus and Lilacs/Bireme databases published from 2005 to 2016. The search keywords included “early onset” and “late onset” combined with “dementia”, “Alzheimer”, “vascular dementia”, “mixed dementia”, “frontotemporal dementia”, “neuropsychiatric symptoms”, “behavioral disturbances”, “behavioral and psychological symptoms of dementia” and “music therapy”. The studies were categorized according to its efficacy on the decline of neuropsychiatric symptoms and improvement of cognitive function, quality of life and well-being. Results We selected 12 out of 257 papers. Music therapy interventions were applied individually or in group setting, using active or receptive technique. In general, studies indicated the efficacy of music therapy on the decline of depression, agitation and anxiety. There were heterogeneity of interventions, methodological design and instruments of evaluation among the studies. Conclusions Although there are reports of the efficacy of music therapy on the decline of neuropsychiatric symptoms of dementia, the area still needs randomized studies aimed at the solution of important methodological problems like the lack of standardized approaches.

  15. GAPscreener: An automatic tool for screening human genetic association literature in PubMed using the support vector machine technique

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    Khoury Muin J

    2008-04-01

    Full Text Available Abstract Background Synthesis of data from published human genetic association studies is a critical step in the translation of human genome discoveries into health applications. Although genetic association studies account for a substantial proportion of the abstracts in PubMed, identifying them with standard queries is not always accurate or efficient. Further automating the literature-screening process can reduce the burden of a labor-intensive and time-consuming traditional literature search. The Support Vector Machine (SVM, a well-established machine learning technique, has been successful in classifying text, including biomedical literature. The GAPscreener, a free SVM-based software tool, can be used to assist in screening PubMed abstracts for human genetic association studies. Results The data source for this research was the HuGE Navigator, formerly known as the HuGE Pub Lit database. Weighted SVM feature selection based on a keyword list obtained by the two-way z score method demonstrated the best screening performance, achieving 97.5% recall, 98.3% specificity and 31.9% precision in performance testing. Compared with the traditional screening process based on a complex PubMed query, the SVM tool reduced by about 90% the number of abstracts requiring individual review by the database curator. The tool also ascertained 47 articles that were missed by the traditional literature screening process during the 4-week test period. We examined the literature on genetic associations with preterm birth as an example. Compared with the traditional, manual process, the GAPscreener both reduced effort and improved accuracy. Conclusion GAPscreener is the first free SVM-based application available for screening the human genetic association literature in PubMed with high recall and specificity. The user-friendly graphical user interface makes this a practical, stand-alone application. The software can be downloaded at no charge.

  16. 19q12q13.2 duplication syndrome: neuropsychiatric long-term follow-up of a new case and literature update

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    Nacinovich R

    2017-10-01

    Full Text Available Renata Nacinovich,1,2 Nicoletta Villa,3 Fiorenza Broggi,1,2 Cristina Tavaniello,1 Monica Bomba,1 Donatella Conconi,2 Serena Redaelli,2 Elena Sala,3 Marialuisa Lavitrano,2 Francesca Neri1,2 1Childhood and Adolescence Neuropsychiatric Unit, San Gerardo Hospital, 2School of Medicine and Surgery, University of Milano Bicocca, 3Medical Genetics Laboratory, Clinical Pathology Department, San Gerardo Hospital, Monza, Italy Abstract: Genetic syndromes are well characterized by the phenotypic point of view, but little is known about their progression and patients’ quality of life. We report a 10-year neuropsychiatric follow-up of a boy with duplication of chromosome 19. Cytogenetic investigation was requested at the age of 5 years for psychomotor and speech delay. The genomic study identified an 8.17 Mb duplication on chromosome 19q12q13.2. We propose that the long-term follow-up of our patient would help to delineate the neuropsychiatric phenotype associated with 19q duplication. This study could be a model for further long-term research in the neuropsychiatric follow-up of patients with 19q duplication syndrome. Keywords: 19q duplication, neuropsychiatric follow-up, array-CGH

  17. A systems approach identifies networks and genes linking sleep and stress: implications for neuropsychiatric disorders.

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    Jiang, Peng; Scarpa, Joseph R; Fitzpatrick, Karrie; Losic, Bojan; Gao, Vance D; Hao, Ke; Summa, Keith C; Yang, He S; Zhang, Bin; Allada, Ravi; Vitaterna, Martha H; Turek, Fred W; Kasarskis, Andrew

    2015-05-05

    Sleep dysfunction and stress susceptibility are comorbid complex traits that often precede and predispose patients to a variety of neuropsychiatric diseases. Here, we demonstrate multilevel organizations of genetic landscape, candidate genes, and molecular networks associated with 328 stress and sleep traits in a chronically stressed population of 338 (C57BL/6J × A/J) F2 mice. We constructed striatal gene co-expression networks, revealing functionally and cell-type-specific gene co-regulations important for stress and sleep. Using a composite ranking system, we identified network modules most relevant for 15 independent phenotypic categories, highlighting a mitochondria/synaptic module that links sleep and stress. The key network regulators of this module are overrepresented with genes implicated in neuropsychiatric diseases. Our work suggests that the interplay among sleep, stress, and neuropathology emerges from genetic influences on gene expression and their collective organization through complex molecular networks, providing a framework for interrogating the mechanisms underlying sleep, stress susceptibility, and related neuropsychiatric disorders. Copyright © 2015 The Authors. Published by Elsevier Inc. All rights reserved.

  18. Neuropharmacological studies with SPECT in neuropsychiatric disorders

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    Heinz, Andreas; Jones, Douglas W.; Raedler, Thomas; Coppola, Richard; Knable, Michael B.; Weinberger, Daniel R.

    2000-01-01

    The last decade saw a rapid development of single photon emission computed tomography (SPECT) from a tool to assess cerebral blood flow to the study of specific neurotransmitter systems. Because of the relatively long half-life of SPECT radioisotopes, it is practical to measure the availability of neuroreceptors and transporters in conditions approaching equilibrium. The cost-efficiency of SPECT allowed studies in relatively large samples of patients with various neuropsychiatric disorders. We have applied this approach in studies of dopaminergic, serotonergic, and muscarinergic neurotransmission in patients with dementia, extrapyramidal disorders, schizophrenia, and alcoholism. No simple associations were observed between a single defect in one neurotransmitter system and a certain neuropsychiatric disease. Instead, complex dysfunction of several neurotransmitter systems in multiple, partially connected brain circuits have been implicated. Treatment effects also have been characterized. Microdialysis and neurotransmitter depletion studies showed that most radioligands and endogenous neurotransmitters compete for binding at receptors and transporters. Future research directions include the assessment of endogenous neurotransmitter concentrations measured by depletion studies and of genetic effects on neuroreceptor and transporter expression

  19. Neuropharmacological studies with SPECT in neuropsychiatric disorders

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    Heinz, Andreas; Jones, Douglas W.; Raedler, Thomas; Coppola, Richard; Knable, Michael B.; Weinberger, Daniel R. E-mail: weinberd@intra.nimh.nih.gov

    2000-10-01

    The last decade saw a rapid development of single photon emission computed tomography (SPECT) from a tool to assess cerebral blood flow to the study of specific neurotransmitter systems. Because of the relatively long half-life of SPECT radioisotopes, it is practical to measure the availability of neuroreceptors and transporters in conditions approaching equilibrium. The cost-efficiency of SPECT allowed studies in relatively large samples of patients with various neuropsychiatric disorders. We have applied this approach in studies of dopaminergic, serotonergic, and muscarinergic neurotransmission in patients with dementia, extrapyramidal disorders, schizophrenia, and alcoholism. No simple associations were observed between a single defect in one neurotransmitter system and a certain neuropsychiatric disease. Instead, complex dysfunction of several neurotransmitter systems in multiple, partially connected brain circuits have been implicated. Treatment effects also have been characterized. Microdialysis and neurotransmitter depletion studies showed that most radioligands and endogenous neurotransmitters compete for binding at receptors and transporters. Future research directions include the assessment of endogenous neurotransmitter concentrations measured by depletion studies and of genetic effects on neuroreceptor and transporter expression.

  20. Modulating Neuroinflammation to Treat Neuropsychiatric Disorders

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    Franziska A. Radtke

    2017-01-01

    Full Text Available Neuroinflammation is recognised as one of the potential mechanisms mediating the onset of a broad range of psychiatric disorders and may contribute to nonresponsiveness to current therapies. Both preclinical and clinical studies have indicated that aberrant inflammatory responses can result in altered behavioral responses and cognitive deficits. In this review, we discuss the role of inflammation in the pathogenesis of neuropsychiatric disorders and ask the question if certain genetic copy-number variants (CNVs associated with psychiatric disorders might play a role in modulating inflammation. Furthermore, we detail some of the potential treatment strategies for psychiatric disorders that may operate by altering inflammatory responses.

  1. A novel analytical framework for dissecting the genetic architecture of behavioral symptoms in neuropsychiatric disorders.

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    Anthony J Deo

    2010-03-01

    Full Text Available For diagnosis of neuropsychiatric disorders, a categorical classification system is often utilized as a simple way for conceptualizing an often complex clinical picture. This approach provides an unsatisfactory model of mental illness, since in practice patients do not conform to these prototypical diagnostic categories. Family studies show notable familial co-aggregation between schizophrenia and bipolar illness and between schizoaffective disorders and both bipolar disorder and schizophrenia, revealing that mental illness does not conform to such categorical models and is likely to follow a continuum encompassing a spectrum of behavioral symptoms.We introduce an analytic framework to dissect the phenotypic heterogeneity present in complex psychiatric disorders based on the conceptual paradigm of a continuum of psychosis. The approach identifies subgroups of behavioral symptoms that are likely to be phenotypically and genetically homogenous. We have evaluated this approach through analysis of simulated data with simulated behavioral traits and predisposing genetic factors. We also apply this approach to a psychiatric dataset of a genome scan for schizophrenia for which extensive behavioral information was collected for each individual patient and their families. With this approach, we identified significant evidence for linkage among depressed individuals with two distinct symptom profiles, that is individuals with sleep disturbance symptoms with linkage on chromosome 2q13 and also a mutually exclusive group of individuals with symptoms of concentration problems with linkage on chromosome 2q35. In addition we identified a subset of individuals with schizophrenia defined by language disturbances with linkage to chromosome 2p25.1 and a group of patients with a phenotype intermediate between those of schizophrenia and schizoaffective disorder with linkage to chromosome 2p21.The findings presented are novel and demonstrate the efficacy of this

  2. Autoantibodies in Neuropsychiatric Disorders

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    Carolin Hoffmann

    2016-04-01

    Full Text Available Little is known about the etiology of neuropsychiatric disorders. The identification of autoantibodies targeting the N-methyl-d-aspartate receptor (NMDA-R, which causes neurological and psychiatric symptoms, has reinvigorated the hypothesis that other patient subgroups may also suffer from an underlying autoimmune condition. In recent years, a wide range of neuropsychiatric diseases and autoantibodies targeting ion-channels or neuronal receptors including NMDA-R, voltage gated potassium channel complex (VGKC complex, α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptor (AMPA-R, γ-aminobutyric acid receptor (GABA-R and dopamine receptor (DR were studied and conflicting reports have been published regarding the seroprevalence of these autoantibodies. A clear causative role of autoantibodies on psychiatric symptoms has as yet only been shown for the NMDA-R. Several other autoantibodies have been related to the presence of certain symptoms and antibody effector mechanisms have been proposed. However, extensive clinical studies with large multicenter efforts to standardize diagnostic procedures for autoimmune etiology and animal studies are needed to confirm the pathogenicity of these autoantibodies. In this review, we discuss the current knowledge of neuronal autoantibodies in the major neuropsychiatric disorders: psychotic, major depression, autism spectrum, obsessive-compulsive and attention-deficit/hyperactivity disorders.

  3. Genetic interactions of MAF1 identify a role for Med20 in transcriptional repression of ribosomal protein genes.

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    Ian M Willis

    2008-07-01

    Full Text Available Transcriptional repression of ribosomal components and tRNAs is coordinately regulated in response to a wide variety of environmental stresses. Part of this response involves the convergence of different nutritional and stress signaling pathways on Maf1, a protein that is essential for repressing transcription by RNA polymerase (pol III in Saccharomyces cerevisiae. Here we identify the functions buffering yeast cells that are unable to down-regulate transcription by RNA pol III. MAF1 genetic interactions identified in screens of non-essential gene-deletions and conditionally expressed essential genes reveal a highly interconnected network of 64 genes involved in ribosome biogenesis, RNA pol II transcription, tRNA modification, ubiquitin-dependent proteolysis and other processes. A survey of non-essential MAF1 synthetic sick/lethal (SSL genes identified six gene-deletions that are defective in transcriptional repression of ribosomal protein (RP genes following rapamycin treatment. This subset of MAF1 SSL genes included MED20 which encodes a head module subunit of the RNA pol II Mediator complex. Genetic interactions between MAF1 and subunits in each structural module of Mediator were investigated to examine the functional relationship between these transcriptional regulators. Gene expression profiling identified a prominent and highly selective role for Med20 in the repression of RP gene transcription under multiple conditions. In addition, attenuated repression of RP genes by rapamycin was observed in a strain deleted for the Mediator tail module subunit Med16. The data suggest that Mediator and Maf1 function in parallel pathways to negatively regulate RP mRNA and tRNA synthesis.

  4. Neuropsychiatric Manifestations of Parkinson`s Disease

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    Ana Peixinho

    2014-10-01

    Full Text Available Parkinson’s disease affects about 1% of the world population older than 65 years. It’s most frequently considered a movement disorder, but the neuropsychiatric manifestations associated with the disease and/or its treatment may be of equal or greater significance in some patients. We will discuss briefly the epidemiology, physiopathology and diagnosis of Parkinson’s disease, highlighting the neuropsychiatric manifestations: depression, anxiety, psychosis, dementia, sleep disorders, dopamine dysregulation syndrome.

  5. Genetic disorders of thyroid metabolism and brain development

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    Kurian, Manju A; Jungbluth, Heinz

    2014-01-01

    Normal thyroid metabolism is essential for human development, including the formation and functioning of the central and peripheral nervous system. Disorders of thyroid metabolism are increasingly recognized within the spectrum of paediatric neurological disorders. Both hypothyroid and hyperthyroid disease states (resulting from genetic and acquired aetiologies) can lead to characteristic neurological syndromes, with cognitive delay, extrapyramidal movement disorders, neuropsychiatric symptoms, and neuromuscular manifestations. In this review, the neurological manifestations of genetic disorders of thyroid metabolism are outlined, with particular focus on Allan-Herndon-Dudley syndrome and benign hereditary chorea. We report in detail the clinical features, major neurological and neuropsychiatric manifestations, molecular genetic findings, disease mechanisms, and therapeutic strategies for these emerging genetic ‘brain-thyroid’ disorders. PMID:24665922

  6. Phelan-McDermid syndrome data network: Integrating patient reported outcomes with clinical notes and curated genetic reports.

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    Kothari, Cartik; Wack, Maxime; Hassen-Khodja, Claire; Finan, Sean; Savova, Guergana; O'Boyle, Megan; Bliss, Geraldine; Cornell, Andria; Horn, Elizabeth J; Davis, Rebecca; Jacobs, Jacquelyn; Kohane, Isaac; Avillach, Paul

    2017-09-01

    The heterogeneity of patient phenotype data are an impediment to the research into the origins and progression of neuropsychiatric disorders. This difficulty is compounded in the case of rare disorders such as Phelan-McDermid Syndrome (PMS) by the paucity of patient clinical data. PMS is a rare syndromic genetic cause of autism and intellectual deficiency. In this paper, we describe the Phelan-McDermid Syndrome Data Network (PMS_DN), a platform that facilitates research into phenotype-genotype correlation and progression of PMS by: a) integrating knowledge of patient phenotypes extracted from Patient Reported Outcomes (PRO) data and clinical notes-two heterogeneous, underutilized sources of knowledge about patient phenotypes-with curated genetic information from the same patient cohort and b) making this integrated knowledge, along with a suite of statistical tools, available free of charge to authorized investigators on a Web portal https://pmsdn.hms.harvard.edu. PMS_DN is a Patient Centric Outcomes Research Initiative (PCORI) where patients and their families are involved in all aspects of the management of patient data in driving research into PMS. To foster collaborative research, PMS_DN also makes patient aggregates from this knowledge available to authorized investigators using distributed research networks such as the PCORnet PopMedNet. PMS_DN is hosted on a scalable cloud based environment and complies with all patient data privacy regulations. As of October 31, 2016, PMS_DN integrates high-quality knowledge extracted from the clinical notes of 112 patients and curated genetic reports of 176 patients with preprocessed PRO data from 415 patients. © 2017 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc.

  7. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome

    DEFF Research Database (Denmark)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A

    2015-01-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarif......Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet......, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene...... discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA...

  8. Genetic and Environmental Determinants of Cognitive Dysfunction and Psychotic-Like Experiences in Neuropsychiatric Patients and Healthy Individuals

    NARCIS (Netherlands)

    Vreeker, A.

    2015-01-01

    Background: Bipolar disorder and schizophrenia are severe neuropsychiatric disorders that are highly heritable. Although both disorders partly share clinical characteristics, it is unclear whether bipolar disorder patients have similar lower IQ as that observed in schizophrenia patients. In the

  9. The MEDIATOR genes MED12 and MED13 control Arabidopsis root system configuration influencing sugar and auxin responses.

    Science.gov (United States)

    Raya-González, Javier; López-Bucio, Jesús Salvador; Prado-Rodríguez, José Carlos; Ruiz-Herrera, León Francisco; Guevara-García, Ángel Arturo; López-Bucio, José

    2017-09-01

    Arabidopsis med12 and med13 mutants exhibit shoot and root phenotypes related to an altered auxin homeostasis. Sucrose supplementation reactivates both cell division and elongation in primary roots as well as auxin-responsive and stem cell niche gene expression in these mutants. An analysis of primary root growth of WT, med12, aux1-7 and med12 aux1 single and double mutants in response to sucrose and/or N-1-naphthylphthalamic acid (NPA) placed MED12 upstream of auxin transport for the sugar modulation of root growth. The MEDIATOR (MED) complex plays diverse functions in plant development, hormone signaling and biotic and abiotic stress tolerance through coordination of transcription. Here, we performed genetic, developmental, molecular and pharmacological analyses to characterize the role of MED12 and MED13 on the configuration of root architecture and its relationship with auxin and sugar responses. Arabidopsis med12 and med13 single mutants exhibit shoot and root phenotypes consistent with altered auxin homeostasis including altered primary root growth, lateral root development, and root hair elongation. MED12 and MED13 were required for activation of cell division and elongation in primary roots, as well as auxin-responsive and stem cell niche gene expression. Remarkably, most of these mutant phenotypes were rescued by supplying sucrose to the growth medium. The growth response of primary roots of WT, med12, aux1-7 and med12 aux1 single and double mutants to sucrose and application of auxin transport inhibitor N-1-naphthylphthalamic acid (NPA) revealed the correlation of med12 phenotype with the activity of the auxin intake permease and suggests that MED12 acts upstream of AUX1 in the root growth response to sugar. These data provide compelling evidence that MEDIATOR links sugar sensing to auxin transport and distribution during root morphogenesis.

  10. Neuropsychiatric complications of 500 cases of hyperthyroidism

    Directory of Open Access Journals (Sweden)

    Moetamedi M

    1998-07-01

    Full Text Available Hyperthyroidism is often accompanied by diverse types of neuropychiatric complications. To demonstrate these complications we studied 500 hyperthyroid patients, who developed neuropsychiatric complications of hyperthyroidism for which other causes of these neuropsychiatric findings were carefully excluded. The patients were 15 to 65 years old (female to male ratio was 5:1, most of the cases were in third and fourth decades of life. Nervousness, tense dysphoria, insomnia and anxiousness were among the most common psychiatric complications, and tremor, hyperreflexia, thyrotoxic myopathy, thyrotoxic periodic paralysis were the most common neurologic complications. Therefore any physician, wether he or she is a general practitioner or a specialist must be aware of these diverse complications, because these neuropsychiatric complications can lead to the diagnosis of hyperthyroidism and treatment of these potentially serious complications.

  11. Neuropsychiatric Systemic Lupus Erythematosus

    Science.gov (United States)

    Popescu, Alexandra; Kao, Amy H

    2011-01-01

    Neuropsychiatric systemic lupus erythematosus (NPSLE) is the least understood, yet perhaps the most prevalent manifestation of lupus. The pathogenesis of NPSLE is multifactorial and involves various inflammatory cytokines, autoantibodies, and immune complexes resulting in vasculopathic, cytotoxic and autoantibody-mediated neuronal injury. The management of NPSLE is multimodal and has not been subjected to rigorous study. Different treatment regimens include nonsteroidal anti-inflammatory drugs, anticoagulation, and immunosuppressives such as cyclophosphamide, azathioprine, mycophenolate mofetil, and methotrexate. For refractory NPSLE, intravenous immunoglobulin (IVIG), plasmapheresis, and rituximab have been used. Adjunctive symptomatic treatment complements these therapies by targeting mood disorders, psychosis, cognitive impairment, seizures or headaches. Several new biological agents are being tested including Belimumab, a human monoclonal antibody that targets B lymphocyte stimulator. This review focuses on the pathophysiology, treatment, and new potential therapies for neuropsychiatric manifestations of systemic lupus erythematosus. PMID:22379459

  12. Transcranial magnetic stimulation and transcranial direct current stimulation: treatments for cognitive and neuropsychiatric symptoms in the neurodegenerative dementias?

    Science.gov (United States)

    2014-01-01

    Introduction Two methods of non-invasive brain stimulation, transcranial magnetic stimulation (TMS) and transcranial direct current stimulation (tDCS), have demonstrable positive effects on cognition and can ameliorate neuropsychiatric symptoms such as depression. Less is known about the efficacy of these approaches in common neurodegenerative diseases. In this review, we evaluate the effects of TMS and tDCS upon cognitive and neuropsychiatric symptoms in the major dementias, including Alzheimer’s disease (AD), vascular dementia (VaD), dementia with Lewy bodies (DLB), Parkinson’s disease with dementia (PDD), and frontotemporal dementia (FTD), as well as the potential pre-dementia states of Mild Cognitive Impairment (MCI) and Parkinson’s disease (PD). Methods PubMed (until 7 February 2014) and PsycINFO (from 1967 to January Week 3 2014) databases were searched in a semi-systematic manner in order to identify relevant treatment studies. A total of 762 studies were identified and 32 studies (18 in the dementias and 14 in PD populations) were included. Results No studies were identified in patients with PDD, FTD or VaD. Of the dementias, 13 studies were conducted in patients with AD, one in DLB, and four in MCI. A total of 16 of the 18 studies showed improvements in at least one cognitive or neuropsychiatric outcome measure. Cognitive or neuropsychiatric improvements were observed in 12 of the 14 studies conducted in patients with PD. Conclusions Both TMS and tDCS may have potential as interventions for the treatment of symptoms associated with dementia and PD. These results are promising; however, available data were limited, particularly within VaD, PDD and FTD, and major challenges exist in order to maximise the efficacy and clinical utility of both techniques. In particular, stimulation parameters vary considerably between studies and are likely to subsequently impact upon treatment efficacy. PMID:25478032

  13. HIV: Neuropsychiatric Aspects of Infection and Therapy

    Directory of Open Access Journals (Sweden)

    Rute Alves

    2013-12-01

    Full Text Available Since its recognition in the 80s, HIV infection has reached 65 million people worldwide. The presence of the virus in CNS occurs in most patients, increasingly being identified neuropsychiatric disorders associated with infection and / or treatment with ARV. This article intends to briefly review the neuro-pathogenesis and neuropsychiatric disorders associated with HIV infection and treatment with HAART, as well as its therapeutic approach.

  14. Neuropsychiatric symptoms and the use of complementary and alternative medicine.

    Science.gov (United States)

    Purohit, Maulik P; Wells, Rebecca Erwin; Zafonte, Ross D; Davis, Roger B; Phillips, Russell S

    2013-01-01

    To assess the prevalence of complementary and alternative medicine (CAM) use by U.S. adults reporting neuropsychiatric symptoms and whether this prevalence changes based on the number of symptoms reported. Additional objectives include identifying patterns of CAM use, reasons for use, and disclosure of use with conventional providers in U.S. adults with neuropsychiatric symptoms. Secondary database analysis of a prospective survey. A total of 23,393 U.S. adults from the 2007 National Health Interview Survey. We compared CAM use between adults with and without neuropsychiatric symptoms. Symptoms included self-reported anxiety, depression, insomnia, headaches, memory deficits, attention deficits, and excessive sleepiness. CAM use was defined as use of mind-body therapies (eg, meditation), biological therapies (eg, herbs), or manipulation therapies (eg, massage) or alternative medical systems (eg, Ayurveda). Statistical analysis included bivariable comparisons and multivariable logistical regression analyses. The prevalence of CAM use among adults with neuropsychiatric symptoms within the previous 12 months and the comparison of CAM use between those with and without neuropsychiatric symptoms. Adults with neuropsychiatric symptoms had a greater prevalence of CAM use compared with adults who did not have neuropsychiatric symptoms (43.8% versus 29.7%, P < .001); this prevalence increased with an increasing number of symptoms (trend, P < .001). Differences in the likelihood of CAM use as determined by the number of symptoms persisted after we adjusted for covariates. Twenty percent of patients used CAM because standard treatments were either too expensive or ineffective, and 25% used CAM because it was recommended by a conventional provider. Adults with at least one neuropsychiatric symptom were more likely to disclose the use of CAM to a conventional provider (47.9% versus 39.0%, P < .001). More than 40% of adults with neuropsychiatric symptoms commonly observed in many

  15. Neuropsychiatric comorbidity in obesity: role of inflammatory processes

    Directory of Open Access Journals (Sweden)

    Nathalie eCastanon

    2014-05-01

    Full Text Available Neuropsychiatric symptoms are frequent in obesity. In addition to their substantial economic and health impact, these symptoms significantly interfere with the quality of life and social function of obese individuals. While the pathophysiological mechanisms underlying obesity-related neuropsychiatric symptoms are still under investigation and remain to be clearly identified, there is increasing evidence for a role of inflammatory processes. Obesity is characterized by a chronic low-grade inflammatory state that is likely to influence neuropsychiatric status given the well-known and highly documented effects of inflammation on brain activity/function and behavior. This hypothesis is supported by recent findings emanating from clinical investigations in obese subjects and from experimentations conducted in animal models of obesity. These studies converge to show that obesity-related inflammatory processes, originating either from the adipose tissue or gut microbiota environment, spread to the brain where they lead to substantial changes in neurocircuitry, neuroendocrine activity, neurotransmitter metabolism and activity, and neurogenesis. Together, these alterations contribute to shape the propitious bases for the development of obesity-related neuropsychiatric comorbidities.

  16. Neuropsychiatric Symptoms in Parkinson's Disease with Mild Cognitive Impairment and Dementia

    Directory of Open Access Journals (Sweden)

    Iracema Leroi

    2012-01-01

    Full Text Available Neuropsychiatric symptoms commonly complicate Parkinson’s disease (PD, however the presence of such symptoms in mild cognitive impairment (PD-MCI specifically has not yet been well described. The objective of this study was to examine and compare the prevalence and profile of neuropsychiatric symptoms in patients with PD-MCI (n = 48 to those with PD and no cognitive impairment (PD-NC, n = 54 and to those with dementia in PD (PDD, n = 25. PD-MCI and PDD were defined using specific consensus criteria, and neuropsychiatric symptoms were assessed with the 12-item Neuropsychiatric Inventory (NPI. Self-rated apathy, depression, and anxiety rating scales were also administered. Over 79% of all participants reported at least one neuropsychiatric symptom in the past month. The proportion in each group who had total NPI scores of ≥4 (“clinically significant” was as follows: PD-NC, 64.8%; PD-MCI, 62%; PDD 76%. Apathy was reported in almost 50% of those with PD-MCI and PDD, and it was an important neuropsychiatric symptom differentiating PD-MCI from PD-NC. Psychosis (hallucinations and delusions increased from 12.9% in PD-NC group; 16.7% in PD-MCI group; and 48% in PDD group. Identifying neuropsychiatric symptoms in PD-MCI may have implications for ascertaining conversion to dementia in PD.

  17. Neuropsychiatric manifestations in late-onset urea cycle disorder patients.

    Science.gov (United States)

    Serrano, Mercedes; Martins, Cecilia; Pérez-Dueñas, Belén; Gómez-López, Lilian; Murgui, Empar; Fons, Carmen; García-Cazorla, Angels; Artuch, Rafael; Jara, Fernando; Arranz, José A; Häberle, Johannes; Briones, Paz; Campistol, Jaume; Pineda, Mercedes; Vilaseca, Maria A

    2010-03-01

    Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late-onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late-onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation, attention-deficit hyperactivity disorder [ADHD], language disorder, and delirium). Generally, these clinical pictures did not benefit from pharmacological treatment. Conversely, dietary treatment improved the symptoms. Regarding biochemical data, 2 patients showed normal ammonium but high glutamine levels. This study highlights the fact that neuropsychiatric/neurodevelopmental findings are common among the initial symptomatology of late-onset urea cycle disorders. The authors recommend that unexplained or nonresponsive neuropsychiatric/neurodevelopmental symptoms appearing during childhood or adolescence be followed by a study of ammonia and amino acid plasmatic levels to rule out a urea cycle disorder.

  18. Clinical neuropsychiatric symptoms in perpetrators of severe crimes against persons.

    Science.gov (United States)

    Söderström Anckarsäter, Henrik

    2005-01-01

    The objective of the study was to explore the possibility of common signs and symptoms of childhood-onset neuropsychiatric disorders and personality disorders, especially psychopathy, in a cohort of violent offenders. A structured neuropsychiatric status comprising features recorded in childhood-onset neuropsychiatric disorders and adult personality disorders was assessed in 89 perpetrators of severe crimes against other persons, analysed for factor structure, and compared to clinical diagnostics of neuropsychiatric disorders and independent assessments of psychopathy rated by the Psychopathy Checklist Revised (PCL-R). One or several childhood-onset neuropsychiatric disorders [autism, attention-deficit/hyperactivity disorder (AD/HD), tics and learning disability] affected the majority of adult offenders. A factor analysis yielded four higher-order problem constellations: Executive Dysfunction, Compulsivity, Social Interaction Problems and Superficiality. All four constellations were positively correlated with life histories of aggression, stressing the clinical importance of these problems in adult forensic psychiatry. Compulsivity and Social Interaction Problems were associated with autistic traits and tics, Executive Dysfunction with AD/HD, conduct disorder and psychopathic as well as autistic traits. Superficiality was a distinct aspect of AD/HD and psychopathic traits, especially the PCL-R factor reflecting interpersonal callousness. Neuropsychiatric disorders and personality disorders such as psychopathy share common symptoms. The various facets of psychopathy are associated with executive dysfunction and empathy deficits with superficial understanding of self, others and the rules of communication.

  19. Psychosocial difficulties from the perspective of persons with neuropsychiatric disorders.

    Science.gov (United States)

    Coenen, Michaela; Cabello, Maria; Umlauf, Silvia; Ayuso-Mateos, José Luis; Anczewska, Marta; Tourunen, Jouni; Leonardi, Matilde; Cieza, Alarcos

    2016-01-01

    The objective of this study is to determine whether persons with neuropsychiatric disorders experience a common set of psychosocial difficulties using qualitative data from focus groups and individual interviews. The study was performed in five European countries (Finland, Italy, Germany, Poland and Spain) using the focus groups and individual interviews with persons with nine neuropsychiatric disorders (dementia, depression, epilepsy, migraine, multiple sclerosis, Parkinson's disease, schizophrenia, stroke and substance dependence). Digitally recorded sessions were analysed using a step-by-step qualitative and quantitative methodology resulting in the compilation of a common set of psychosocial difficulties using the International Classification of Functioning, Disability and Health (ICF) as a framework. Sixty-seven persons participated in the study. Most persons with neuropsychiatric disorders experience difficulties in emotional functions, sleeping, carrying out daily routine, working and interpersonal relationships in common. Sixteen out of 33 psychosocial difficulties made up the common set. This set includes mental functions, pain and issues addressing activities and participation and provides first evidence for the hypothesis of horizontal epidemiology of psychosocial difficulties in neuropsychiatric disorders. This study provides information about psychosocial difficulties that should be covered in the treatment and rehabilitation of persons with neuropsychiatric disorders regardless of clinical diagnoses. Emotional problems, work and sleep problems should be addressed in all the treatments of neuropsychiatric disorders regardless of their specific diagnosis, etiology and severity. Personality issues should be targeted in the treatment for neurological disorders, whereas communication skill training may also be useful for mental disorders. The effects of medication and social environment on patient's daily life should be considered in all the

  20. Neuropsychiatric Symptoms in Parkinson’s Disease Dementia Are Associated with Increased Caregiver Burden

    Directory of Open Access Journals (Sweden)

    Yoon-Sang Oh

    2015-01-01

    Full Text Available Objective Neuropsychiatric symptoms are common in Parkinson’s disease dementia (PDD. Frequent and severe neuropsychiatric symptoms create high levels of distress for patients and caregivers, decreasing their quality of life. The aim of this study was to investigate neuropsychiatric symptoms that may contribute to increased caregiver burden in PDD patients. Methods Forty-eight PDD patients were assessed using the 12-item Neuropsychiatric Inventory (NPI to determine the frequency and severity of mental and behavioral problems. The Burden Interview and Caregiver Burden Inventory were used to evaluate caregiver burden. Results All but one patient showed one or more neuropsychiatric symptoms. The three most frequent neuropsychiatric symptoms were apathy (70.8% and anxiety (70.8%, followed by depression (68.7%. More severe neuropsychiatric symptoms were significantly correlated with increased caregiver burden. The domains of delusion, hallucination, agitation and aggression, anxiety, irritability and lability, and aberrant motor behavior were associated with caregiver stress. After controlling for age and other potential confounding variables, total NPI score was significantly associated with caregiver burden. Conclusions The results of this study confirm that neuropsychiatric symptoms are frequent and severe in patients with PDD and are associated with increased caregiver distress. A detailed evaluation and management of neuropsychiatric symptoms in PDD patients appears necessary to improve patient quality of life and reduce caregiver burden.

  1. [NEUROPSYCHIATRIC MANIFESTATIONS OF SYSTEMIC LUPUS ERYTHEMATOSUS].

    Science.gov (United States)

    Stryjer, Rafael; Shriki Tal, Liron; Gizunterman, Alex; Amital, Daniela; Amital, Howard; Kotler, Moshe

    2017-12-01

    This review deals with the neuropsychiatric disorders resulting from systemic lupus erythematosus (SLE). SLE is a chronic autoimmune disease that impacts all systems in the human body, including the central nervous system. Neuropsychiatric symptoms in SLE are a common complication of the disease. This complication has significant implications for the severity of the illness. In most cases no thorough psychiatric assessment is performed during initial evaluation of the disease and no protocol or clear guidelines for treating the psychiatric symptoms in SLE are available. Early diagnosis of the psychiatric symptoms in SLE is critical since absence of treatment may result in severe psychiatric complications. Clinical pharmacological studies are needed in order to develop guidelines for treating psychiatric symptoms in SLE.

  2. Neuropsychiatric dynamics: the study of mental illness using functional magnetic resonance imaging

    International Nuclear Information System (INIS)

    Callicott, Joseph H.; Weinberger, Daniel R.

    1999-01-01

    Functional magnetic resonance imaging (fMRI) is poised to make significant contributions to the study of neuropsychiatric illnesses. Whatever neural pathology attends such illnesses has proven subtle at best. By identifying predictable, regionally specific deficits in brain function, fMRI can suggest brain regions for detailed cellular analyses, provide valuable in vivo data regarding effective connectivity, provide a means to model the effects of various drug challenge paradigms, and characterize intermediate phenotypes in the search for the genes underlying mental illness. Nonetheless, as promising as fMRI appears to be in terms of its relative safety, repeatability, ability to generate individual brain maps and widespread availability, it is still subject to a number of unresolved conceptual conundrums inherited from earlier neuroimaging work. For example, functional neuroimaging has not generated any pathognomic findings in mental illness, has not established a clear link between neurophysiology and observable behavior, and has not resolved the potential confounds of medication. In this article, we will review the relevant historical background preceding fMRI, address methodological considerations in fMRI, and summarize recent fMRI findings in psychiatry. Finally, fMRI is being used to simplify the complex genetics of neuropsychiatric illness by generating quantitative and qualitative brain phenotypes

  3. Neuropsychiatric dynamics: the study of mental illness using functional magnetic resonance imaging

    Energy Technology Data Exchange (ETDEWEB)

    Callicott, Joseph H. E-mail: callicoj@intra.nimh.nih.gov; Weinberger, Daniel R

    1999-05-01

    Functional magnetic resonance imaging (fMRI) is poised to make significant contributions to the study of neuropsychiatric illnesses. Whatever neural pathology attends such illnesses has proven subtle at best. By identifying predictable, regionally specific deficits in brain function, fMRI can suggest brain regions for detailed cellular analyses, provide valuable in vivo data regarding effective connectivity, provide a means to model the effects of various drug challenge paradigms, and characterize intermediate phenotypes in the search for the genes underlying mental illness. Nonetheless, as promising as fMRI appears to be in terms of its relative safety, repeatability, ability to generate individual brain maps and widespread availability, it is still subject to a number of unresolved conceptual conundrums inherited from earlier neuroimaging work. For example, functional neuroimaging has not generated any pathognomic findings in mental illness, has not established a clear link between neurophysiology and observable behavior, and has not resolved the potential confounds of medication. In this article, we will review the relevant historical background preceding fMRI, address methodological considerations in fMRI, and summarize recent fMRI findings in psychiatry. Finally, fMRI is being used to simplify the complex genetics of neuropsychiatric illness by generating quantitative and qualitative brain phenotypes.

  4. Innate immune receptor Toll-like receptor 4 signalling in neuropsychiatric diseases.

    Science.gov (United States)

    García Bueno, B; Caso, J R; Madrigal, J L M; Leza, J C

    2016-05-01

    The innate immunity is a stereotyped first line of defense against pathogens and unspecified damage signals. One of main actors of innate immunity are the Toll-like receptors (TLRs), and one of the better characterized members of this family is TLR-4, that it is mainly activated by Gram-negative bacteria lipopolysaccharide. In brain, TLR-4 organizes innate immune responses against infections or cellular damage, but also possesses other physiological functions. In the last years, some evidences suggest a role of TLR-4 in stress and stress-related neuropsychiatric diseases. Peripheral and brain TLR-4 activation triggers sickness behavior, and its expression is a risk factor of depression. Some elements of the TLR-4 signaling pathway are up-regulated in peripheral samples and brain post-mortem tissue from depressed and suicidal patients. The "leaky gut" hypothesis of neuropsychiatric diseases is based on the existence of an increase of the intestinal permeability which results in bacterial translocation able to activate TLR-4. Enhanced peripheral TLR-4 expression/activity has been described in subjects diagnosed with schizophrenia, bipolar disorder and in autistic children. A role for TLR-4 in drugs abuse has been also proposed. The therapeutic potential of pharmacological/genetic modulation of TLRs signaling pathways in neuropsychiatry is promising, but a great preclinical/clinical scientific effort is still needed. Copyright © 2016 Elsevier Ltd. All rights reserved.

  5. RAS in the central nervous system: Potential role in neuropsychiatric disorders.

    Science.gov (United States)

    Rocha, Natalia Pessoa; Simões e Silva, Ana Cristina; Prestes, Thiago Ruiz Rodrigues; Feracin, Victor; Machado, Caroline Amaral; Ferreira, Rodrigo Novaes; Teixeira, Antonio Lucio; de Miranda, Aline Silva

    2018-02-25

    The Renin-Angiotensin System (RAS) is a key regulator of cardiovascular and renal homeostasis, but also plays important roles in mediating physiological functions in the central nervous system (CNS). The effects of the RAS were classically described as mediated by angiotensin (Ang) II via angiotensin type 1 (AT1) receptors. However, another arm of the RAS formed by the angiotensin converting enzyme 2 (ACE2), Ang-(1-7) and the Mas receptor has been a matter of investigation due to its important physiological roles, usually counterbalancing the classical effects exerted by Ang II. We aim to provide an overview of effects elicited by the RAS, especially Ang-(1-7), in the brain. We also aim to discuss the therapeutic potential for neuropsychiatric disorders of the modulation of RAS. We carried out an extensive literature search in PubMed central. Within the brain, Ang-(1-7) contributes to the regulation of blood pressure by acting at regions that control cardiovascular functions. In contrast with Ang II, Ang-(1-7) improves baroreflex sensitivity and plays an inhibitory role in hypothalamic noradrenergic neurotransmission. Ang-(1-7) not only exerts effects related to blood pressure regulation, but also acts as a neuroprotective component of the RAS, for instance, by reducing cerebral infarct size, inflammation, oxidative stress and neuronal apoptosis. Pre-clinical evidence supports a relevant role for ACE2/Ang-(1-7)/Mas receptor axis in several neuropsychiatric conditions, including stress-related and mood disorders, cerebrovascular ischemic and haemorrhagic lesions and neurodegenerative diseases. However, very few data are available regarding the ACE2/Ang-(1-7)/Mas receptor axis in human CNS. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  6. Neuropsychiatric manifestations in late-onset urea cycle disorder patients

    OpenAIRE

    Serrano Mercedes L.; Martins Cecilia E.; Pérez-Dueñas Belén; Gómez-López Lilian; Murgui Empar; Fons Carmen; García-Cazorla Ángels; Artuch Rafael M D; Jara Fernando; Arranz José Antonio; Häberle Johannes; Briones Paz; Campistol Jaume M D; Pineda Mercè; Vilaseca María Antònia Antonia

    2010-01-01

    Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation attention deficit hyper...

  7. Physical activity and neuropsychiatric symptoms of Parkinson disease.

    Science.gov (United States)

    Abrantes, Ana M; Friedman, Joseph H; Brown, Richard A; Strong, David R; Desaulniers, Julie; Ing, Eileen; Saritelli, Jennifer; Riebe, Deborah

    2012-09-01

    Neuropsychiatric symptoms of Parkinson disease (PD) such as fatigue, depression, and apathy are common and detract from quality of life. There is little published on the impact of physical activity on the neuropsychiatric symptoms of PD. A convenience sample of 45 patients with PD (mean age = 66.1 years; 33% female) completed questionnaires on physical activity, neuropsychiatric symptoms, and specific exercise preferences. Covarying for age and gender, higher levels of physical activity were associated with significantly less fatigue, as well as a trend for less apathy and depression and greater positive affect. Exercise preferences included moderate intensity (73%), at home (56%), in the morning (73%), scheduled (69%), options for varied activities (73%), and preference for both structured/supervised (50%), and unsupervised/self-paced (50%) programs. Preferred activities included the use of aerobic exercise equipment, resistance training, and yoga. Developing and tailoring exercise programs that incorporate specific preferences may result in more effective interventions for patients with PD.

  8. Neuropsychiatric symptoms in systemic lupus erythematosus: impact on quality of life.

    Science.gov (United States)

    Monahan, R C; Beaart-van de Voorde, L J J; Steup-Beekman, G M; Magro-Checa, C; Huizinga, T W J; Hoekman, J; Kaptein, A A

    2017-10-01

    Objective Assess quality of life in patients with systemic lupus erythematosus (SLE) presenting with neuropsychiatric symptoms (neuropsychiatric SLE, NPSLE). Methods Quality of life was assessed using the Short-Form 36 item Health Survey (SF-36) in patients visiting the Leiden NPSLE clinic at baseline and at follow-up. SF-36 subscales and summary scores were calculated and compared with quality of life of the general Dutch population and patients with other chronic diseases. Results At baseline, quality of life was assessed in 248 SLE patients, of whom 98 had NPSLE (39.7%). Follow-up data were available for 104 patients (42%), of whom 64 had NPSLE (61.5%). SLE patients presenting neuropsychiatric symptoms showed a significantly reduced quality of life in all subscales of the SF-36. Quality of life at follow-up showed a significant improvement in physical functioning role ( p = 0.001), social functioning ( p = 0.007), vitality ( p = 0.023), mental health ( p = 0.014) and mental component score ( p = 0.042) in patients with neuropsychiatric symptoms not attributed to SLE, but no significant improvement was seen in patients with NPSLE. Conclusion Quality of life is significantly reduced in patients with SLE presenting neuropsychiatric symptoms compared with the general population and patients with other chronic diseases. Quality of life remains considerably impaired at follow-up. Our results illustrate the need for biopsychosocial care in patients with SLE and neuropsychiatric symptoms.

  9. Neuropsychiatric Disturbances and Hypopituitarism After Traumatic Brain Injury in an Elderly Man

    Directory of Open Access Journals (Sweden)

    Yi-Cheng Chang

    2006-01-01

    Full Text Available Neuropsychiatric or cognitive disturbances are common complications after traumatic brain injury. They are commonly regarded as irreversible sequelae of organic brain injuries. We report a case of hypopituitarism in a 77-year-old man who presented with long-term neuropsychiatric disturbances, including cognitive impairment, disturbed sleep patterns, personality change, loss of affect, and visual and auditory hallucinations after a traumatic subdural hemorrhage. The treatment response to hormone replacement therapy was nearly complete. Hypopituitarism is rarely considered in patients who sustain traumatic brain injury and the neuropsychiatric manifestations of posttraumatic hypopituitarism have rarely been reported. This case highlights the importance of hypopituitarism as a potential reversible cause of neuropsychiatric disturbances after traumatic brain injury.

  10. Novel genetic loci associated with hippocampal volume.

    Science.gov (United States)

    Hibar, Derrek P; Adams, Hieab H H; Jahanshad, Neda; Chauhan, Ganesh; Stein, Jason L; Hofer, Edith; Renteria, Miguel E; Bis, Joshua C; Arias-Vasquez, Alejandro; Ikram, M Kamran; Desrivières, Sylvane; Vernooij, Meike W; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S; Armstrong, Nicola J; Athanasiu, Lavinia; Axelsson, Tomas; Beecham, Ashley H; Beiser, Alexa; Bernard, Manon; Blanton, Susan H; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brickman, Adam M; Carmichael, Owen; Chakravarty, M Mallar; Chen, Qiang; Ching, Christopher R K; Chouraki, Vincent; Cuellar-Partida, Gabriel; Crivello, Fabrice; Den Braber, Anouk; Doan, Nhat Trung; Ehrlich, Stefan; Giddaluru, Sudheer; Goldman, Aaron L; Gottesman, Rebecca F; Grimm, Oliver; Griswold, Michael E; Guadalupe, Tulio; Gutman, Boris A; Hass, Johanna; Haukvik, Unn K; Hoehn, David; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Jørgensen, Kjetil N; Karbalai, Nazanin; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Liewald, David C M; Lopez, Lorna M; Luciano, Michelle; Macare, Christine; Marquand, Andre F; Matarin, Mar; Mather, Karen A; Mattheisen, Manuel; McKay, David R; Milaneschi, Yuri; Muñoz Maniega, Susana; Nho, Kwangsik; Nugent, Allison C; Nyquist, Paul; Loohuis, Loes M Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pirpamer, Lukas; Pütz, Benno; Ramasamy, Adaikalavan; Richards, Jennifer S; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rommelse, Nanda; Ropele, Stefan; Rose, Emma J; Royle, Natalie A; Rundek, Tatjana; Sämann, Philipp G; Saremi, Arvin; Satizabal, Claudia L; Schmaal, Lianne; Schork, Andrew J; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V; Sprooten, Emma; Strike, Lachlan T; Teumer, Alexander; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Trompet, Stella; Vaidya, Dhananjay; Van der Grond, Jeroen; Van der Lee, Sven J; Van der Meer, Dennis; Van Donkelaar, Marjolein M J; Van Eijk, Kristel R; Van Erp, Theo G M; Van Rooij, Daan; Walton, Esther; Westlye, Lars T; Whelan, Christopher D; Windham, Beverly G; Winkler, Anderson M; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Yanek, Lisa R; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P; Agartz, Ingrid; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A; Arepalli, Sampath; Assareh, Amelia A; Barral, Sandra; Bastin, Mark E; Becker, Diane M; Becker, James T; Bennett, David A; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I; Brodaty, Henry; Brouwer, Rachel M; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Bulayeva, Kazima B; Cahn, Wiepke; Calhoun, Vince D; Cannon, Dara M; Cavalleri, Gianpiero L; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E; Czisch, Michael; Dale, Anders M; Davies, Gareth E; De Craen, Anton J M; De Geus, Eco J C; De Jager, Philip L; De Zubicaray, Greig I; Deary, Ian J; Debette, Stéphanie; DeCarli, Charles; Delanty, Norman; Depondt, Chantal; DeStefano, Anita; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C; Duggirala, Ravi; Dyer, Thomas D; Enzinger, Christian; Erk, Susanne; Espeseth, Thomas; Fedko, Iryna O; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E; Fleischman, Debra A; Ford, Ian; Fornage, Myriam; Foroud, Tatiana M; Fox, Peter T; Francks, Clyde; Fukunaga, Masaki; Gibbs, J Raphael; Glahn, David C; Gollub, Randy L; Göring, Harald H H; Green, Robert C; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Håberg, Asta K; Hansell, Narelle K; Hardy, John; Hartman, Catharina A; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G; Heslenfeld, Dirk J; Ho, Beng-Choon; Hoekstra, Pieter J; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Huentelman, Matthew; Hulshoff Pol, Hilleke E; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G; Jukema, J Wouter; Kahn, René S; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L; Lopez, Oscar L; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S; McDonald, Colm; McIntosh, Andrew M; McMahon, Francis J; McMahon, Katie L; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W; Morris, Derek W; Mosley, Thomas H; Mühleisen, Thomas W; Müller-Myhsok, Bertram; Nalls, Michael A; Nauck, Matthias; Nichols, Thomas E; Niessen, Wiro J; Nöthen, Markus M; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L; Ophoff, Roel A; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W J H; Pike, G Bruce; Potkin, Steven G; Psaty, Bruce M; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L; Romanczuk-Seiferth, Nina; Rotter, Jerome I; Ryten, Mina; Sacco, Ralph L; Sachdev, Perminder S; Saykin, Andrew J; Schmidt, Reinhold; Schmidt, Helena; Schofield, Peter R; Sigursson, Sigurdur; Simmons, Andrew; Singleton, Andrew; Sisodiya, Sanjay M; Smith, Colin; Smoller, Jordan W; Soininen, Hilkka; Steen, Vidar M; Stott, David J; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Tsolaki, Magda; Tzourio, Christophe; Uitterlinden, Andre G; Hernández, Maria C Valdés; Van der Brug, Marcel; van der Lugt, Aad; van der Wee, Nic J A; Van Haren, Neeltje E M; van 't Ent, Dennis; Van Tol, Marie-Jose; Vardarajan, Badri N; Vellas, Bruno; Veltman, Dick J; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M; Wassink, Thomas H; Weale, Michael E; Weinberger, Daniel R; Weiner, Michael W; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y; Wright, Clinton B; Zielke, Ronald H; Zonderman, Alan B; Martin, Nicholas G; Van Duijn, Cornelia M; Wright, Margaret J; Longstreth, W T; Schumann, Gunter; Grabe, Hans J; Franke, Barbara; Launer, Lenore J; Medland, Sarah E; Seshadri, Sudha; Thompson, Paul M; Ikram, M Arfan

    2017-01-18

    The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal volume, four of them novel. Of the novel loci, three lie within genes (ASTN2, DPP4 and MAST4) and one is found 200 kb upstream of SHH. A hippocampal subfield analysis shows that a locus within the MSRB3 gene shows evidence of a localized effect along the dentate gyrus, subiculum, CA1 and fissure. Further, we show that genetic variants associated with decreased hippocampal volume are also associated with increased risk for Alzheimer's disease (r g =-0.155). Our findings suggest novel biological pathways through which human genetic variation influences hippocampal volume and risk for neuropsychiatric illness.

  11. Concurrent Use of Cannabis and Alcohol: Neuropsychiatric Effect Consequences.

    Science.gov (United States)

    Romaguera, Anna; Torrens, Marta; Papaseit, Esther; Arellano, Ana Lucia; Farré, Magi

    2017-01-01

    Concurrent use of cannabis and alcohol is frequent. According different studies, the prevalence is among 20-34% depending on different samples studied. In contrast with the wide evidence available about neuropsychiatric effects associated to the use of cannabis or alcohol separately, there are few studies of the neuropsychiatric effects of their combination. Our aim was to review the literature regarding this topic. We performed a search in MEDLINE and from 114 potentially eligible studies, 27 were selected. Most of them studied the relation between cannabis and alcohol, and with them combined to other substances of abuse, but only a few considered their concurrent effect among mental disorders (ADHD, bipolar disorder) and neuropsychological performance. More research in the neuropsychiatric effects of the concomitant use of cannabis and alcohol is needed. Copyright© Bentham Science Publishers; For any queries, please email at epub@benthamscience.org.

  12. MED1 independent activation of endogenous target genes by PPARα

    DEFF Research Database (Denmark)

    Grøntved, Lars; Bugge, Anne K.; Roeder, Robert G.

    The mediator complex serves as a transcriptional co-activator complex by acting as a bridge between promoter-bound transcription factors and the preinitiation complex. Genetic and biochemical studies indicate that nuclear receptors recruit the mediator complex through direct interaction with the ......The mediator complex serves as a transcriptional co-activator complex by acting as a bridge between promoter-bound transcription factors and the preinitiation complex. Genetic and biochemical studies indicate that nuclear receptors recruit the mediator complex through direct interaction...... derived from TRAP220 KO mice. Interestingly, rescue experiments in confluent TRAP220 KO MEFs with different versions of MED1 indicate that the LXXLL motif is not necessary for PPARgamma mediated gene activation (Ge et al, MCB published online ahead of print 2007). By analogy, we show here that MED1...... is dispensable for PPARalpha transcriptional activity in proliferating but is necessary in confluent AML-12 cells and TRAP220 KO MEFs. Collectively this indicates that the PPARs might have adopted an alternative mediator recruitment mechanism that is dispensable of direct interaction with MED1 on endogenous...

  13. Genetic structure of Bemisia tabaci Med populations from home-range countries, inferred by nuclear and cytoplasmic markers: impact on the distribution of the insecticide resistance genes.

    Science.gov (United States)

    Gauthier, Nathalie; Clouet, Cécile; Perrakis, Andreas; Kapantaidaki, Despoina; Peterschmitt, Michel; Tsagkarakou, Anastasia

    2014-10-01

    Insecticide resistance management in Bemisia tabaci is one of the main issues facing agricultural production today. An extensive survey was undertaken in five Mediterranean countries to examine the resistance status of Med B. tabaci species in its range of geographic origin and the relationship between population genetic structure and the distribution of resistance genes. The investigation combined molecular diagnostic tests, sequence and microsatellite polymorphism studies and monitoring of endosymbionts. High frequencies of pyrethroid (L925I and T929V, VGSC gene) and organophosphate (F331W, ace1 gene) resistance mutations were found in France, Spain and Greece, but not in Morocco or Tunisia. Sequence analyses of the COI gene delineated two closely related mitochondrial groups (Q1 and Q2), which were found either sympatrically (Spain) or separately (France). Only Q1 was observed in Greece, Morocco and Tunisia. Bayesian analyses based on microsatellite loci revealed three geographically delineated genetic groups (France, Spain, Morocco/Greece/Tunisia) and high levels of genetic differentiation even between neighbouring samples. Evidence was also found for hybridisation and asymmetrical gene flow between Q1 and Q2. Med B. tabaci is more diverse and structured than reported so far. On a large geographic scale, resistance is affected by population genetic structure, whereas on a local scale, agricultural practices appear to play a major role. © 2014 Society of Chemical Industry.

  14. Neuropsychiatric disorders and cognitive dysfunction in patients with Cushing's disease.

    Science.gov (United States)

    Chen, Yu-fan; Li, Yun-feng; Chen, Xiao; Sun, Qing-fang

    2013-08-01

    To review the main neuropsychiatric disorders and cognitive deficits in patients with Cushing's disease (CD) and the associated pathophysiological mechanisms underlying CD. These mechanistic details may provide recommendations for preventing or treating the cognitive impairments and mood disorders in patients with CD. Data were obtained from papers on psychiatric and cognitive complications in CD published in English within the last 20 years. To perform the PubMed literature search, the following keywords were input: cushing's disease, cognitive, hippocampal, or glucocorticoids. Studies were selected if they contained data relevant to the topic addressed in the particular section. Because of the limited length of this article, we have frequently referenced recent reviews that contain a comprehensive amalgamation of literature rather than the actual source papers. Patients with active CD not only suffer from many characteristic clinical features, but also show some neuropsychiatric disorders and cognitive impairments. Among the psychiatric manifestations, the common ones are emotional instability, depressive disorder, anxious symptoms, impulsivity, and cognitive impairment. Irreversible effects of previous glucocorticoid (GC) excess on the central nervous system, such as hippocampal and the basal ganglia, is the most reasonable reason. Excess secretion of cortisol brings much structural and functional changes in hippocampal, such as changes in neurogenesis and morphology, signaling pathway, gene expression, and glutamate accumulation. Hippocampal volume loss can be found in most patients with CD, and decreased glucose utilization caused by GCs may lead to brain atrophy, neurogenesis impairment, inhibition of long-term potentiation, and decreased neurotrophic factors; these may also explain the mechanisms of GC-induced brain atrophy and hippocampal changes. Brain atrophy and hippocampal changes caused by excess secretion of cortisol are thought to play a significant

  15. Novel genetic loci associated with hippocampal volume

    NARCIS (Netherlands)

    D.P. Hibar (Derrek); H.H.H. Adams (Hieab); N. Jahanshad (Neda); G. Chauhan (Ganesh); J.L. Stein; E. Hofer (Edith); M.E. Rentería (Miguel); J.C. Bis (Joshua); A. Arias-Vásquez (Alejandro); Ikram, M.K. (M. Kamran); S. Desrivières (Sylvane); M.W. Vernooij (Meike); L. Abramovic (Lucija); S. Alhusaini (Saud); N. Amin (Najaf); M. Andersson (Micael); K. Arfanakis (Konstantinos); B. Aribisala (Benjamin); N.J. Armstrong (Nicola J.); L. Athanasiu (Lavinia); T. Axelsson (Tomas); A.H. Beecham (Ashley); A. Beiser (Alexa); M. Bernard (Manon); S.H. Blanton (Susan H.); M.M. Bohlken (Marc M.); M.P.M. Boks (Marco); L.B.C. Bralten (Linda); A.M. Brickman (Adam M.); Carmichael, O. (Owen); M.M. Chakravarty (M. Mallar); Q. Chen (Qiang); C.R.K. Ching (Christopher); V. Chouraki (Vincent); G. Cuellar-Partida (Gabriel); F. Crivello (Fabrice); A. den Braber (Anouk); Doan, N.T. (Nhat Trung); S.M. Ehrlich (Stefan); S. Giddaluru (Sudheer); A.L. Goldman (Aaron L.); R.F. Gottesman (Rebecca); O. Grimm (Oliver); M.D. Griswold (Michael); T. Guadalupe (Tulio); Gutman, B.A. (Boris A.); J. Hass (Johanna); U.K. Haukvik (Unn); D. Hoehn (David); A.J. Holmes (Avram); M. Hoogman (Martine); D. Janowitz (Deborah); T. Jia (Tianye); Jørgensen, K.N. (Kjetil N.); N. Karbalai (Nazanin); D. Kasperaviciute (Dalia); S. Kim (Shinseog); M. Klein (Marieke); B. Kraemer (Bernd); P.H. Lee (Phil); D.C. Liewald (David C.); L.M. Lopez (Lorna); M. Luciano (Michelle); C. MacAre (Christine); Marquand, A.F. (Andre F.); M. Matarin (Mar); R. Mather; M. Mattheisen (Manuel); McKay, D.R. (David R.); Milaneschi, Y. (Yuri); S. Muñoz Maniega (Susana); K. Nho (Kwangsik); A.C. Nugent (Allison); P. Nyquist (Paul); Loohuis, L.M.O. (Loes M. Olde); J. Oosterlaan (Jaap); M. Papmeyer (Martina); Pirpamer, L. (Lukas); B. Pütz (Benno); A. Ramasamy (Adaikalavan); Richards, J.S. (Jennifer S.); S.L. Risacher (Shannon); R. Roiz-Santiañez (Roberto); N. Rommelse (Nanda); S. Ropele (Stefan); E.J. Rose (Emma); N.A. Royle (Natalie); T. Rundek (Tatjana); P.G. Sämann (Philipp); Saremi, A. (Arvin); C.L. Satizabal (Claudia L.); L. Schmaal (Lianne); N.J. Schork (Nicholas); Shen, L. (Li); J. Shin (Jean); Shumskaya, E. (Elena); A.V. Smith (Albert Vernon); R. Sprooten (Roy); L.T. Strike (Lachlan); A. Teumer (Alexander); D. Tordesillas-Gutierrez (Diana); R. Toro (Roberto); D. Trabzuni (Danyah); S. Trompet (Stella); D. Vaidya (Dhananjay); J. van der Grond (Jeroen); S.J. van der Lee (Sven); Van Der Meer, D. (Dennis); M.M.J. Van Donkelaar (Marjolein M. J.); K.R. van Eijk (Kristel); T.G.M. van Erp (Theo G.); Van Rooij, D. (Daan); E. Walton (Esther); L.T. Westlye (Lars); C.D. Whelan (Christopher); B.G. Windham (B Gwen); A.M. Winkler (Anderson); K. Wittfeld (Katharina); G. Woldehawariat (Girma); A. Björnsson (Asgeir); Wolfers, T. (Thomas); L.R. Yanek (Lisa); Yang, J. (Jingyun); A.P. Zijdenbos; M.P. Zwiers (Marcel); I. Agartz (Ingrid); L. Almasy (Laura); D.J. Ames (David); Amouyel, P. (Philippe); O.A. Andreassen (Ole); S. Arepalli (Sampath); A.A. Assareh; S. Barral (Sandra); M.E. Bastin (Mark); Becker, D.M. (Diane M.); J.T. Becker (James); D.A. Bennett (David A.); J. Blangero (John); H. van Bokhoven (Hans); D.I. Boomsma (Dorret); H. Brodaty (Henry); R.M. Brouwer (Rachel); H.G. Brunner; M. Buckner; J.K. Buitelaar (Jan); K. Bulayeva (Kazima); W. Cahn (Wiepke); V.D. Calhoun Vince D. (V.); D.M. Cannon (Dara); G. Cavalleri (Gianpiero); Cheng, C.-Y. (Ching-Yu); S. Cichon (Sven); M.R. Cookson (Mark); A. Corvin (Aiden); B. Crespo-Facorro (Benedicto); J.E. Curran (Joanne); M. Czisch (Michael); A.M. Dale (Anders); G.E. Davies (Gareth); A.J. de Craen (Anton); E.J.C. de Geus (Eco); P.L. de Jager (Philip); G.I. de Zubicaray (Greig); I.J. Deary (Ian J.); S. Debette (Stéphanie); C. DeCarli (Charles); N. Delanty; C. Depondt (Chantal); A.L. DeStefano (Anita); A. Dillman (Allissa); S. Djurovic (Srdjan); D.J. Donohoe (Dennis); D.A. Drevets (Douglas); Duggirala, R. (Ravi); M.D. Dyer (Matthew); C. Enzinger (Christian); S. Erk; T. Espeseth (Thomas); Fedko, I.O. (Iryna O.); Fernández, G. (Guillén); L. Ferrucci (Luigi); S.E. Fisher (Simon); D. Fleischman (Debra); I. Ford (Ian); M. Fornage (Myriam); T. Foroud (Tatiana); P.T. Fox (Peter); C. Francks (Clyde); Fukunaga, M. (Masaki); Gibbs, J.R. (J. Raphael); D.C. Glahn (David); R.L. Gollub (Randy); H.H.H. Göring (Harald H.); R.C. Green (Robert C.); O. Gruber (Oliver); V. Gudnason (Vilmundur); S. Guelfi (Sebastian); Håberg, A.K. (Asta K.); N.K. Hansell (Narelle); J. Hardy (John); C.A. Hartman (C.); Hashimoto, R. (Ryota); K. Hegenscheid (Katrin); J. Heinz (Judith); S. Le Hellard (Stephanie); D.G. Hernandez (Dena); D.J. Heslenfeld (Dirk); Ho, B.-C. (Beng-Choon); P.J. Hoekstra (Pieter); W. Hoffmann (Wolfgang); A. Hofman (Albert); F. Holsboer (Florian); G. Homuth (Georg); N. Hosten (Norbert); J.J. Hottenga (Jouke Jan); M.J. Huentelman (Matthew); H.H. Pol; Ikeda, M. (Masashi); Jack, C.R. (Clifford R.); S. Jenkinson (Sarah); R. Johnson (Robert); Jönsson, E.G. (Erik G.); J.W. Jukema; R. Kahn (René); Kanai, R. (Ryota); I. Kloszewska (Iwona); Knopman, D.S. (David S.); P. Kochunov (Peter); Kwok, J.B. (John B.); S. Lawrie (Stephen); H. Lemaître (Herve); X. Liu (Xinmin); D.L. Longo (Dan L.); O.L. Lopez (Oscar L.); S. Lovestone (Simon); Martinez, O. (Oliver); J.-L. Martinot (Jean-Luc); V.S. Mattay (Venkata S.); McDonald, C. (Colm); A.M. McIntosh (Andrew); McMahon, F.J. (Francis J.); McMahon, K.L. (Katie L.); P. Mecocci (Patrizia); I. Melle (Ingrid); Meyer-Lindenberg, A. (Andreas); S. Mohnke (Sebastian); Montgomery, G.W. (Grant W.); D.W. Morris (Derek W); T.H. Mosley (Thomas H.); T.W. Mühleisen (Thomas); B. Müller-Myhsok (B.); M.A. Nalls (Michael); M. Nauck (Matthias); T.E. Nichols (Thomas); W.J. Niessen (Wiro); M.M. Nöthen (Markus); L. Nyberg (Lars); Ohi, K. (Kazutaka); R.L. Olvera (Rene); R.A. Ophoff (Roel); M. Pandolfo (Massimo); T. Paus (Tomas); Z. Pausova (Zdenka); B.W.J.H. Penninx (Brenda); Pike, G.B. (G. Bruce); S.G. Potkin (Steven); B.M. Psaty (Bruce); S. Reppermund; M. Rietschel (Marcella); J.L. Roffman (Joshua); N. Seiferth (Nina); J.I. Rotter (Jerome I.); M. Ryten (Mina); Sacco, R.L. (Ralph L.); P.S. Sachdev (Perminder); A.J. Saykin (Andrew); R. Schmidt (Reinhold); Schmidt, H. (Helena); C.J. Schofield (Christopher); Sigursson, S. (Sigurdur); Simmons, A. (Andrew); A. Singleton (Andrew); S.M. Sisodiya (Sanjay); Smith, C. (Colin); J.W. Smoller; H. Soininen (H.); V.M. Steen (Vidar); D.J. Stott (David J.); J. Sussmann (Jessika); A. Thalamuthu (Anbupalam); A.W. Toga (Arthur W.); B. Traynor (Bryan); J.C. Troncoso (Juan); M. Tsolaki (Magda); C. Tzourio (Christophe); A.G. Uitterlinden (André); Hernández, M.C.V. (Maria C. Valdés); M.P. van der Brug (Marcel); A. van der Lugt (Aad); N.J. van der Wee (Nic); N.E.M. van Haren (Neeltje E.); D. van 't Ent (Dennis); M.J.D. van Tol (Marie-José); B.N. Vardarajan (Badri); B. Vellas (Bruno); D.J. Veltman (Dick); H. Völzke (Henry); H.J. Walter (Henrik); J. Wardlaw (Joanna); A.M.J. Wassink (Annemarie); M.E. Weale (Michael); Weinberger, D.R. (Daniel R.); Weiner, M.W. (Michael W.); Wen, W. (Wei); E. Westman (Eric); T.J.H. White (Tonya); Wong, T.Y. (Tien Y.); Wright, C.B. (Clinton B.); R.H. Zielke (Ronald H.); A.B. Zonderman; N.G. Martin (Nicholas); C.M. van Duijn (Cornelia); M.J. Wright (Margaret); W.T. Longstreth Jr; G. Schumann (Gunter); H.J. Grabe (Hans Jörgen); B. Franke (Barbara); L.J. Launer (Lenore); S.E. Medland (Sarah Elizabeth); S. Seshadri (Sudha); P.M. Thompson (Paul); M.K. Ikram (Kamran)

    2017-01-01

    textabstractThe hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic

  16. Exome sequencing identifies highly recurrent MED12 somatic mutations in breast fibroadenoma.

    Science.gov (United States)

    Lim, Weng Khong; Ong, Choon Kiat; Tan, Jing; Thike, Aye Aye; Ng, Cedric Chuan Young; Rajasegaran, Vikneswari; Myint, Swe Swe; Nagarajan, Sanjanaa; Nasir, Nur Diyana Md; McPherson, John R; Cutcutache, Ioana; Poore, Gregory; Tay, Su Ting; Ooi, Wei Siong; Tan, Veronique Kiak Mien; Hartman, Mikael; Ong, Kong Wee; Tan, Benita K T; Rozen, Steven G; Tan, Puay Hoon; Tan, Patrick; Teh, Bin Tean

    2014-08-01

    Fibroadenomas are the most common breast tumors in women under 30 (refs. 1,2). Exome sequencing of eight fibroadenomas with matching whole-blood samples revealed recurrent somatic mutations solely in MED12, which encodes a Mediator complex subunit. Targeted sequencing of an additional 90 fibroadenomas confirmed highly frequent MED12 exon 2 mutations (58/98, 59%) that are probably somatic, with 71% of mutations occurring in codon 44. Using laser capture microdissection, we show that MED12 fibroadenoma mutations are present in stromal but not epithelial mammary cells. Expression profiling of MED12-mutated and wild-type fibroadenomas revealed that MED12 mutations are associated with dysregulated estrogen signaling and extracellular matrix organization. The fibroadenoma MED12 mutation spectrum is nearly identical to that of previously reported MED12 lesions in uterine leiomyoma but not those of other tumors. Benign tumors of the breast and uterus, both of which are key target tissues of estrogen, may thus share a common genetic basis underpinned by highly frequent and specific MED12 mutations.

  17. Novel genetic loci associated with hippocampal volume

    NARCIS (Netherlands)

    Hibar, Derrek P.; Adams, Hieab H. H.; Jahanshad, Neda; Chauhan, Ganesh; Stein, Jason L.; Hofer, Edith; Renteria, Miguel E.; Bis, Joshua C.; Arias-Vasquez, Alejandro; Ikram, M. Kamran; Desrivières, Sylvane; Vernooij, Meike W.; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf; Andersson, Micael; Arfanakis, Konstantinos; Aribisala, Benjamin S.; Armstrong, Nicola J.; Athanasiu, Lavinia; Axelsson, Tomas; Beecham, Ashley H.; Beiser, Alexa; Bernard, Manon; Blanton, Susan H.; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brickman, Adam M.; Carmichael, Owen; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Chouraki, Vincent; Cuellar-Partida, Gabriel; Crivello, Fabrice; den Braber, Anouk; Doan, Nhat Trung; Ehrlich, Stefan; Giddaluru, Sudheer; Goldman, Aaron L.; Gottesman, Rebecca F.; Grimm, Oliver; Griswold, Michael E.; Guadalupe, Tulio; Gutman, Boris A.; Hass, Johanna; Haukvik, Unn K.; Hoehn, David; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Jørgensen, Kjetil N.; Karbalai, Nazanin; Kasperaviciute, Dalia; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Liewald, David C. M.; Lopez, Lorna M.; Luciano, Michelle; Macare, Christine; Marquand, Andre F.; Matarin, Mar; Mather, Karen A.; Mattheisen, Manuel; McKay, David R.; Milaneschi, Yuri; Muñoz Maniega, Susana; Nho, Kwangsik; Nugent, Allison C.; Nyquist, Paul; Loohuis, Loes M. Olde; Oosterlaan, Jaap; Papmeyer, Martina; Pirpamer, Lukas; Pütz, Benno; Ramasamy, Adaikalavan; Richards, Jennifer S.; Risacher, Shannon L.; Roiz-Santiañez, Roberto; Rommelse, Nanda; Ropele, Stefan; Rose, Emma J.; Royle, Natalie A.; Rundek, Tatjana; Sämann, Philipp G.; Saremi, Arvin; Satizabal, Claudia L.; Schmaal, Lianne; Schork, Andrew J.; Shen, Li; Shin, Jean; Shumskaya, Elena; Smith, Albert V.; Sprooten, Emma; Strike, Lachlan T.; Teumer, Alexander; Tordesillas-Gutierrez, Diana; Toro, Roberto; Trabzuni, Daniah; Trompet, Stella; Vaidya, Dhananjay; van der Grond, Jeroen; van der Lee, Sven J.; van der Meer, Dennis; van Donkelaar, Marjolein M. J.; van Eijk, Kristel R.; van Erp, Theo G. M.; van Rooij, Daan; Walton, Esther; Westlye, Lars T.; Whelan, Christopher D.; Windham, Beverly G.; Winkler, Anderson M.; Wittfeld, Katharina; Woldehawariat, Girma; Wolf, Christiane; Wolfers, Thomas; Yanek, Lisa R.; Yang, Jingyun; Zijdenbos, Alex; Zwiers, Marcel P.; Agartz, Ingrid; Almasy, Laura; Ames, David; Amouyel, Philippe; Andreassen, Ole A.; Arepalli, Sampath; Assareh, Amelia A.; Barral, Sandra; Bastin, Mark E.; Becker, Diane M.; Becker, James T.; Bennett, David A.; Blangero, John; van Bokhoven, Hans; Boomsma, Dorret I.; Brodaty, Henry; Brouwer, Rachel M.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Bulayeva, Kazima B.; Cahn, Wiepke; Calhoun, Vince D.; Cannon, Dara M.; Cavalleri, Gianpiero L.; Cheng, Ching-Yu; Cichon, Sven; Cookson, Mark R.; Corvin, Aiden; Crespo-Facorro, Benedicto; Curran, Joanne E.; Czisch, Michael; Dale, Anders M.; Davies, Gareth E.; de Craen, Anton J. M.; de Geus, Eco J. C.; de Jager, Philip L.; de Zubicaray, Greig I.; Deary, Ian J.; Debette, Stéphanie; Decarli, Charles; Delanty, Norman; Depondt, Chantal; DeStefano, Anita; Dillman, Allissa; Djurovic, Srdjan; Donohoe, Gary; Drevets, Wayne C.; Duggirala, Ravi; Dyer, Thomas D.; Enzinger, Christian; Erk, Susanne; Espeseth, Thomas; Fedko, Iryna O.; Fernández, Guillén; Ferrucci, Luigi; Fisher, Simon E.; Fleischman, Debra A.; Ford, Ian; Fornage, Myriam; Foroud, Tatiana M.; Fox, Peter T.; Francks, Clyde; Fukunaga, Masaki; Gibbs, J. Raphael; Glahn, David C.; Gollub, Randy L.; Göring, Harald H. H.; Green, Robert C.; Gruber, Oliver; Gudnason, Vilmundur; Guelfi, Sebastian; Håberg, Asta K.; Hansell, Narelle K.; Hardy, John; Hartman, Catharina A.; Hashimoto, Ryota; Hegenscheid, Katrin; Heinz, Andreas; Le Hellard, Stephanie; Hernandez, Dena G.; Heslenfeld, Dirk J.; Ho, Beng-Choon; Hoekstra, Pieter J.; Hoffmann, Wolfgang; Hofman, Albert; Holsboer, Florian; Homuth, Georg; Hosten, Norbert; Hottenga, Jouke-Jan; Huentelman, Matthew; Pol, Hilleke E. Hulshoff; Ikeda, Masashi; Jack, Clifford R.; Jenkinson, Mark; Johnson, Robert; Jönsson, Erik G.; Jukema, J. Wouter; Kahn, René S.; Kanai, Ryota; Kloszewska, Iwona; Knopman, David S.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Lemaître, Hervé; Liu, Xinmin; Longo, Dan L.; Lopez, Oscar L.; Lovestone, Simon; Martinez, Oliver; Martinot, Jean-Luc; Mattay, Venkata S.; McDonald, Colm; McIntosh, Andrew M.; McMahon, Francis J.; McMahon, Katie L.; Mecocci, Patrizia; Melle, Ingrid; Meyer-Lindenberg, Andreas; Mohnke, Sebastian; Montgomery, Grant W.; Morris, Derek W.; Mosley, Thomas H.; Mühleisen, Thomas W.; Müller-Myhsok, Bertram; Nalls, Michael A.; Nauck, Matthias; Nichols, Thomas E.; Niessen, Wiro J.; Nöthen, Markus M.; Nyberg, Lars; Ohi, Kazutaka; Olvera, Rene L.; Ophoff, Roel A.; Pandolfo, Massimo; Paus, Tomas; Pausova, Zdenka; Penninx, Brenda W. J. H.; Pike, G. Bruce; Potkin, Steven G.; Psaty, Bruce M.; Reppermund, Simone; Rietschel, Marcella; Roffman, Joshua L.; Romanczuk-Seiferth, Nina; Rotter, Jerome I.; Ryten, Mina; Sacco, Ralph L.; Sachdev, Perminder S.; Saykin, Andrew J.; Schmidt, Reinhold; Schmidt, Helena; Schofield, Peter R.; Sigursson, Sigurdur; Simmons, Andrew; Singleton, Andrew; Sisodiya, Sanjay M.; Smith, Colin; Smoller, Jordan W.; Soininen, Hilkka; Steen, Vidar M.; Stott, David J.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Tsolaki, Magda; Tzourio, Christophe; Uitterlinden, Andre G.; Hernández, Maria C. Valdés; van der Brug, Marcel; van der Lugt, Aad; van der Wee, Nic J. A.; van Haren, Neeltje E. M.; van 't Ent, Dennis; van Tol, Marie-Jose; Vardarajan, Badri N.; Vellas, Bruno; Veltman, Dick J.; Völzke, Henry; Walter, Henrik; Wardlaw, Joanna M.; Wassink, Thomas H.; Weale, Michael E.; Weinberger, Daniel R.; Weiner, Michael W.; Wen, Wei; Westman, Eric; White, Tonya; Wong, Tien Y.; Wright, Clinton B.; Zielke, Ronald H.; Zonderman, Alan B.; Martin, Nicholas G.; van Duijn, Cornelia M.; Wright, Margaret J.; Longstreth, W. T.; Schumann, Gunter; Grabe, Hans J.; Franke, Barbara; Launer, Lenore J.; Medland, Sarah E.; Seshadri, Sudha; Thompson, Paul M.; Ikram, M. Arfan

    2017-01-01

    The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of

  18. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome : objectives and methods

    NARCIS (Netherlands)

    Dietrich, Andrea; Fernandez, Thomas V.; King, Robert A.; State, Matthew W.; Tischfield, Jay A.; Hoekstra, Pieter J.; Heiman, Gary A.

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified

  19. Redox Modulations, Antioxidants, and Neuropsychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Erik A. Fraunberger

    2016-01-01

    Full Text Available Although antioxidants, redox modulations, and neuropsychiatric disorders have been widely studied for many years, the field would benefit from an integrative and corroborative review. Our primary objective is to delineate the biological significance of compounds that modulate our redox status (i.e., reactive species and antioxidants as well as outline their current role in brain health and the impact of redox modulations on the severity of illnesses. Therefore, this review will not enter into the debate regarding the perceived medical legitimacy of antioxidants but rather seek to clarify their abilities and limitations. With this in mind, antioxidants may be interpreted as natural products with significant pharmacological actions in the body. A renewed understanding of these often overlooked compounds will allow us to critically appraise the current literature and provide an informed, novel perspective on an important healthcare issue. In this review, we will introduce the complex topics of redox modulations and their role in the development of select neuropsychiatric disorders.

  20. Drug Repurposing Is a New Opportunity for Developing Drugs against Neuropsychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Hyeong-Min Lee

    2016-01-01

    Full Text Available Better the drugs you know than the drugs you do not know. Drug repurposing is a promising, fast, and cost effective method that can overcome traditional de novo drug discovery and development challenges of targeting neuropsychiatric and other disorders. Drug discovery and development targeting neuropsychiatric disorders are complicated because of the limitations in understanding pathophysiological phenomena. In addition, traditional de novo drug discovery and development are risky, expensive, and time-consuming processes. One alternative approach, drug repurposing, has emerged taking advantage of off-target effects of the existing drugs. In order to identify new opportunities for the existing drugs, it is essential for us to understand the mechanisms of action of drugs, both biologically and pharmacologically. By doing this, drug repurposing would be a more effective method to develop drugs against neuropsychiatric and other disorders. Here, we review the difficulties in drug discovery and development in neuropsychiatric disorders and the extent and perspectives of drug repurposing.

  1. A clinical classification acknowledging neuropsychiatric and cognitive impairment in Huntingtons disease

    DEFF Research Database (Denmark)

    Vinther-Jensen, Tua; Larsen, Ida U; Hjermind, Lena E

    2014-01-01

    based on the presence of involuntary movements and a positive genetic test for the HD CAG repeat expansion. After investigating the frequencies of the triad manifestations in a large outpatient clinical cohort of HD gene-expansion carriers, we propose a new clinical classification.MethodsIn this cross...... medication, and cognitive impairment.ResultsAmong the motor manifest HD gene-expansion carriers, 51.8% presented with the full symptom triad, 25.0% were defined as cognitively impaired in addition to motor symptoms, and 14.3% had neuropsychiatric symptoms along with motor symptoms. Only 8.9% had isolated...... terms, suggesting that the current clinical classification is neither necessarily suitable nor helpful for this patient group. Some premanifest gene-expansion carriers may have psychiatric and/or cognitive symptoms caused by reactive stress or other pathology than HD. Acknowledging this fact we, however...

  2. The neuropsychiatric aspect of Addison's disease: a case report.

    Science.gov (United States)

    Abdel-Motleb, Mohamed

    2012-10-01

    Chronic adrenal insufficiency, known as Addison's disease, presents with a constellation of symptoms and signs. The neuropsychiatric aspect of this condition is not fully understood and not much has been documented about it in the English literature. This article presents a case of a 41-year old male patient who presented initially with depression after a recent life stressor. After his condition escalated and therapy continued to fail, the medical team revised its diagnosis to Addison's disease. Neuropsychiatric symptoms could be the first presentation of Addison's disease, and thus should be kept in mind whenever such a case presents to the physician.

  3. Brain MRI findings of neuropsychiatric lupus

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jang-Wook; Kwon, Bae Ju; Lee, Seung-Ro; Hahm, Chang-Kok; Moon, Won Jin; Jeon, Eui Yong; Bae, Sang-Chul [Hanyang Univ. School of Medicine, Seoul (Korea, Republic of)

    2000-12-01

    To evaluate the brain MRI findings in patients with neuropsychiatric lupus. In 26 patients (M:F = 2:24 ; aged 9-48 years) in whom the presence of systemic lupus erythematosus was clinically or pathologically proven and in whom neuropsychiatric lupus was also clinically diagnosed, the findings of brain MRI were retrospectively evaluated. MR images were analyzed with regard to the distribution, location, size and number of lesions due to cerebral ischemia or infarction, the presence of cerebral atrophy, and the extent and degree of brain parenchymal and intravascular enhancement. The most common MRI findings were lesions due to cerebral ischemia or infarction occurring in 18 patients (69%), and located within deep periventricular white matter (n=10), subcortical white matter (n=8), the cerebral cortex (n=7), basal ganglia (n=7), or brain stem or cerebellum (n=2). The lesions were single (n=3) or multiple (n=15), and in 17 patients were less than 1cm in diameter in regions other than the cerebral cortex. In six of these patients, lesions of 1-4cm in diameter in this region were combined, and one occurred in the cerebral cortex only. Cerebral atrophy was seen in 16 patients (62%), in ten of whom there was no past history of treatment with steroids for more than six months. In 15 patients (58%), contrast-enhanced MR image revealed diffuse enhancement of the basal ganglia or intravascular enhancement. In no case were MRI findings normal. The primary mainfestations of neuropsychiatric lupus are multifocal ischemia or infarctions in the cerebral cortex, and subcortical and deep white matter, and the cerebral atrophy. Contrast-enhanced MR images also demonstrated diffuse enhancement of the basal ganglia and intravascular enhancement, both thought to be related to the congestion due to the stagnation of cerebral blood flow.

  4. Brain MRI findings of neuropsychiatric lupus

    International Nuclear Information System (INIS)

    Kim, Jang-Wook; Kwon, Bae Ju; Lee, Seung-Ro; Hahm, Chang-Kok; Moon, Won Jin; Jeon, Eui Yong; Bae, Sang-Chul

    2000-01-01

    To evaluate the brain MRI findings in patients with neuropsychiatric lupus. In 26 patients (M:F = 2:24 ; aged 9-48 years) in whom the presence of systemic lupus erythematosus was clinically or pathologically proven and in whom neuropsychiatric lupus was also clinically diagnosed, the findings of brain MRI were retrospectively evaluated. MR images were analyzed with regard to the distribution, location, size and number of lesions due to cerebral ischemia or infarction, the presence of cerebral atrophy, and the extent and degree of brain parenchymal and intravascular enhancement. The most common MRI findings were lesions due to cerebral ischemia or infarction occurring in 18 patients (69%), and located within deep periventricular white matter (n=10), subcortical white matter (n=8), the cerebral cortex (n=7), basal ganglia (n=7), or brain stem or cerebellum (n=2). The lesions were single (n=3) or multiple (n=15), and in 17 patients were less than 1cm in diameter in regions other than the cerebral cortex. In six of these patients, lesions of 1-4cm in diameter in this region were combined, and one occurred in the cerebral cortex only. Cerebral atrophy was seen in 16 patients (62%), in ten of whom there was no past history of treatment with steroids for more than six months. In 15 patients (58%), contrast-enhanced MR image revealed diffuse enhancement of the basal ganglia or intravascular enhancement. In no case were MRI findings normal. The primary mainfestations of neuropsychiatric lupus are multifocal ischemia or infarctions in the cerebral cortex, and subcortical and deep white matter, and the cerebral atrophy. Contrast-enhanced MR images also demonstrated diffuse enhancement of the basal ganglia and intravascular enhancement, both thought to be related to the congestion due to the stagnation of cerebral blood flow

  5. MED, COMP, multilayered and NEIN: an overview of multiple epiphyseal dysplasia

    Energy Technology Data Exchange (ETDEWEB)

    Lachman, Ralph S. [International Skeletal Dysplasia Registry, UCLA School of Medicine, Radiological Services, Department of Pediatrics, Los Angeles, CA (United States); International Skeletal Dysplasia Registry, Los Angeles, CA (United States); Krakow, Deborah; Cohn, Daniel H.; Rimoin, David L. [International Skeletal Dysplasia Registry, UCLA School of Medicine, Radiological Services, Department of Pediatrics, Los Angeles, CA (United States)

    2005-02-01

    This overview covers the group of disorders that presents radiographically as multiple epiphyseal dysplasia (MED). The disorders include ''classic MED'' (Ribbing and Fairbank types): MED that is caused by mutations in the cartilage oligomeric matrix protein (COMP), type IX collagen, and matrilin 3 genes (MATN3); and MED with multilayered patella, brachydactyly, and clubbed feet resultant from mutations in gene defect diastrophic dysplasia (DTDST). The recently identified gene/molecular abnormalities in these disorders have made more exact identification possible in many cases, although clinical testing is not always available. However, there are specific radiographic findings that allow the accurate diagnosis to be made, thus potentially guiding which molecular defect(s) should be investigated. The modes of inheritance of these distinct MED conditions are not identical. When a specific diagnosis is made, proper genetic counseling as well as prognostication, management issues and complications can be delineated to the patient and family. This review will include the mechanics of diagnostic and molecular triage for these disorders. (orig.)

  6. Neuropsychiatric findings in Cushing syndrome and exogenous glucocorticoid administration.

    Science.gov (United States)

    Starkman, Monica N

    2013-09-01

    This article reviews the neuropsychiatric presentations elicited by spontaneous hypercortisolism and exogenous supraphysiologic glucocorticoids. Patients with Cushing disease and syndrome develop a depressive syndrome: irritable and depressed mood, decreased libido, disrupted sleep and cognitive decrements. Exogenous short-term glucocorticoid administration may elicit a hypomanic syndrome with mood, sleep and cognitive disruptions. Treatment options are discussed. Brain imaging and neuropsychological studies indicate elevated cortisol and other glucocorticoids are especially deleterious to hippocampus and frontal lobe. The research findings also shed light on neuropsychiatric abnormalities in conditions that have substantial subgroups exhibiting elevated and dysregulated cortisol: aging, major depressive disorder and Alzheimer's disease. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Neuropsychiatric disorders among Syrian and Iraqi refugees in Jordan: a retrospective cohort study 2012-2013.

    Science.gov (United States)

    McKenzie, Erica D; Spiegel, Paul; Khalifa, Adam; Mateen, Farrah J

    2015-01-01

    The burden of neuropsychiatric disorders in refugees is likely high, but little has been reported on the neuropsychiatric disorders that affect Syrian and Iraqi refugees in a country of first asylum. This analysis aimed to study the cost and burden of neuropsychiatric disorders among refugees from Syria and Iraq requiring exceptional, United Nations-funded care in a country of first asylum. The United Nations High Commissioner for Refugees works with multi-disciplinary, in-country exceptional care committees to review refugees' applications for emergency or exceptional medical care. Neuropsychiatric diagnoses among refugee applicants were identified through a retrospective review of applications to the Jordanian Exceptional Care Committee (2012-2013). Diagnoses were made using International Classification of Disease-10(th) edition codes rendered by treating physicians. Neuropsychiatric applications accounted for 11% (264/2526) of all Exceptional Care Committee applications, representing 223 refugees (40% female; median age 35 years; 57% Syrian, 36% Iraqi, 7% other countries of origin). Two-thirds of neuropsychiatric cases were for emergency care. The total amount requested for neuropsychiatric disorders was 925,674 USD. Syrian refugees were significantly more likely to request neurotrauma care than Iraqis (18/128 vs. 3/80, p = 0.03). The most expensive care per person was for brain tumor (7,905 USD), multiple sclerosis (7,502 USD), and nervous system trauma (6,466 USD), although stroke was the most frequent diagnosis. Schizophrenia was the most costly and frequent diagnosis among the psychiatric disorders (2,269 USD per person, 27,226 USD total). Neuropsychiatric disorders, including those traditionally considered outside the purview of refugee health, are an important burden to health among Iraqi and Syrian refugees. Possible interventions could include stroke risk factor reduction and targeted medication donations for multiple sclerosis, epilepsy, and

  8. Advancing PubMed?

    DEFF Research Database (Denmark)

    Wildgaard, Lorna Elizabeth; Lund, Haakon

    2016-01-01

    the efficiency of biomedical literature searches. PubMed remains the primary resource for biomedical literature, and as PubMed makes the Medline data and Entrez PubMed Programming utilities freely available, any developer can produce alternative tools to search the database. The authors question if PubMed still...... provides the superior search interface for systematic searches or if the innovativeness of third-party tools provide alternatives worth considering. The paper aims to discuss these issues. Design/methodology/approach In all, 76 third-party tools that build on PubMed content were identified in a PubMed...... search and in published studies known to the authors. Only tools that provided free access to the broad PubMed content and designed specifically to enhance the search were included, reducing the set to 16 tools. The functionality of each tool within the scenario of a systematic search was compared across...

  9. Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections: Role of Otolaryngologist

    Directory of Open Access Journals (Sweden)

    Emrah Kara

    2015-03-01

    Full Text Available Pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections, refers to a disorder in children who manifest symptoms of obsessive-compulsive disorder and/or tic disorders associated with acute exacerbations. Although autoimmune responses following infections with streptococcus have been hypothesized to be responsible, there is still controversies about the pathophysiology and treatment. In this article, the treatment methods of pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections and the role of otolaryngologist were discussed.

  10. Neuropsychiatric symptoms and diagnosis of grey matter heterotopia: A case-based reflection

    Directory of Open Access Journals (Sweden)

    Gian Lippi

    2017-03-01

    Full Text Available Neuropsychiatric symptoms can be related to less common underlying neuropsychiatric conditions – in this case report, the condition discussed is that of grey matter heterotopia (GMH. The patient presented with a history of prominent aggression, impulsivity and manipulative and attention-seeking behaviour. Episodes of depression and incidents of deliberate self-harm and suicide attempts had been reported. Neuropsychiatric symptoms included anxiety, a labile mood, delusional thinking and auditory hallucinations. Testing revealed some cognitive difficulties and severe impairment of frontal lobe functions. A magnetic resonance imaging (MRI scan of his brain revealed the presence of GMH, which had previously been misdiagnosed as tuberous sclerosis. An MRI scan of the brain is the special investigation of choice for the correct diagnosis of GMH. The pathognomonic finding is that of heterotopic grey matter abnormally located within areas of white matter. Defective foetal neuronal migration between the third and fifth month of pregnancy can lead to GMH, which can present later on in childhood or adolescence with epilepsy, intellectual impairment or reading difficulties. During the late teenage years or early adulthood, a wide variety of neuropsychiatric symptoms may be present, which can lead to diagnostic difficulties.

  11. Physical activity attenuates neuropsychiatric disturbances and caregiver burden in patients with dementia

    Directory of Open Access Journals (Sweden)

    Gustavo Christofoletti

    2011-01-01

    Full Text Available INTRODUCTION: A significant benefit from physical activity has recently been described in some patients who suffer from neurodegenerative diseases. OBJECTIVE: To assess the effects of physical activity on neuropsychiatric disturbances in demented patients and on the mental burden of their caregivers. METHODS: Assisted by a public geriatric psychiatry clinical unit, we studied 59 patients with dementia. Patients were divided into three groups according to their diagnosis and level of physical activity. Data were assessed through a semi-structured interview. Patients were evaluated with the Neuropsychiatric Inventory, the Mini-Sleep Questionnaire and the Baecke Questionnaire. The data were statistically analyzed using the Mann-Whitney U test and linear regression, with the level of significance set at 5%. RESULTS: Patients with Alzheimer's or vascular dementia who engaged in physical activity had fewer neuropsychiatric symptoms than those who did not. When compared to the control group, the caregivers of patients with vascular dementia who engaged in physical activity had a reduced burden. CONCLUSION: The regular practice of physical activity seems to contribute to a reduction in neuropsychiatric symptoms in dementia patients and to attenuate the burden of the caregivers of those patients.

  12. Course of Neuropsychiatric Symptoms during Flares of Systemic Lupus Erythematosus (SLE

    Directory of Open Access Journals (Sweden)

    Gareth Garrett

    2017-01-01

    Full Text Available We present the case of a seventeen-year-old girl who presents with an interesting course of neuropsychiatric symptoms during several flares of SLE. The patient was diagnosed at the age of thirteen and has had four flares in total. The latter two flares included cutaneous and neuropsychiatric symptoms. The most recent flare occurred when she was aged seventeen. She had cutaneous symptoms which coincided with an episode of hypomania. Her mental state further deteriorated following steroid treatment. She exhibited affective and psychotic symptoms. Treatment with cyclophosphamide and olanzapine was associated with an improvement in both cutaneous and neuropsychiatric symptoms. Previously aged sixteen the patient had presented with cutaneous symptoms and a moderate depressive episode which was also exacerbated by steroid treatment. The patient’s mood improved when the dose of oral steroids was reduced to a daily dose of 15–20 mg prednisolone.

  13. An automatic method to generate domain-specific investigator networks using PubMed abstracts

    Directory of Open Access Journals (Sweden)

    Gwinn Marta

    2007-06-01

    Full Text Available Abstract Background Collaboration among investigators has become critical to scientific research. This includes ad hoc collaboration established through personal contacts as well as formal consortia established by funding agencies. Continued growth in online resources for scientific research and communication has promoted the development of highly networked research communities. Extending these networks globally requires identifying additional investigators in a given domain, profiling their research interests, and collecting current contact information. We present a novel strategy for building investigator networks dynamically and producing detailed investigator profiles using data available in PubMed abstracts. Results We developed a novel strategy to obtain detailed investigator information by automatically parsing the affiliation string in PubMed records. We illustrated the results by using a published literature database in human genome epidemiology (HuGE Pub Lit as a test case. Our parsing strategy extracted country information from 92.1% of the affiliation strings in a random sample of PubMed records and in 97.0% of HuGE records, with accuracies of 94.0% and 91.0%, respectively. Institution information was parsed from 91.3% of the general PubMed records (accuracy 86.8% and from 94.2% of HuGE PubMed records (accuracy 87.0. We demonstrated the application of our approach to dynamic creation of investigator networks by creating a prototype information system containing a large database of PubMed abstracts relevant to human genome epidemiology (HuGE Pub Lit, indexed using PubMed medical subject headings converted to Unified Medical Language System concepts. Our method was able to identify 70–90% of the investigators/collaborators in three different human genetics fields; it also successfully identified 9 of 10 genetics investigators within the PREBIC network, an existing preterm birth research network. Conclusion We successfully created a

  14. An automatic method to generate domain-specific investigator networks using PubMed abstracts

    Science.gov (United States)

    Yu, Wei; Yesupriya, Ajay; Wulf, Anja; Qu, Junfeng; Gwinn, Marta; Khoury, Muin J

    2007-01-01

    Background Collaboration among investigators has become critical to scientific research. This includes ad hoc collaboration established through personal contacts as well as formal consortia established by funding agencies. Continued growth in online resources for scientific research and communication has promoted the development of highly networked research communities. Extending these networks globally requires identifying additional investigators in a given domain, profiling their research interests, and collecting current contact information. We present a novel strategy for building investigator networks dynamically and producing detailed investigator profiles using data available in PubMed abstracts. Results We developed a novel strategy to obtain detailed investigator information by automatically parsing the affiliation string in PubMed records. We illustrated the results by using a published literature database in human genome epidemiology (HuGE Pub Lit) as a test case. Our parsing strategy extracted country information from 92.1% of the affiliation strings in a random sample of PubMed records and in 97.0% of HuGE records, with accuracies of 94.0% and 91.0%, respectively. Institution information was parsed from 91.3% of the general PubMed records (accuracy 86.8%) and from 94.2% of HuGE PubMed records (accuracy 87.0). We demonstrated the application of our approach to dynamic creation of investigator networks by creating a prototype information system containing a large database of PubMed abstracts relevant to human genome epidemiology (HuGE Pub Lit), indexed using PubMed medical subject headings converted to Unified Medical Language System concepts. Our method was able to identify 70–90% of the investigators/collaborators in three different human genetics fields; it also successfully identified 9 of 10 genetics investigators within the PREBIC network, an existing preterm birth research network. Conclusion We successfully created a web-based prototype

  15. Impaired awareness of deficits and neuropsychiatric symptoms in early Alzheimer's disease: the Danish Alzheimer Intervention Study (DAISY)

    DEFF Research Database (Denmark)

    Vogel, A.; Waldorff, Frans Boch; Waldemar, G.

    2010-01-01

    Impaired awareness may be associated with increased neuropsychiatric symptoms in moderate to severe Alzheimer's disease, but relatively little is known about the association in early Alzheimer's disease. The aim of this study was to investigate if impaired awareness was associated with a higher...... frequency of neuropsychiatric symptoms in early Alzheimer's disease. In a Danish multicenter study, 321 patients with MMSE score > or =20 were evaluated. Patients with poor insight had significantly more neuropsychiatric symptoms than patients with full insight. When patients had increasing neuropsychiatric...

  16. High early life stress and aberrant amygdala activity: risk factors for elevated neuropsychiatric symptoms in HIV+ adults.

    Science.gov (United States)

    Clark, Uraina S; Sweet, Lawrence H; Morgello, Susan; Philip, Noah S; Cohen, Ronald A

    2017-06-01

    Relative to HIV-negative adults, HIV+ adults report elevated levels of early life stress (ELS). In non-HIV samples, high ELS has been linked to abnormalities in brain structure and function, as well as increased risk of neuropsychiatric symptoms. Yet, little is known about the neural effects of high ELS, and their relation to elevated neuropsychiatric symptoms, in HIV+ adults. Recent studies have revealed combined effects of HIV and high ELS on amygdala morphometry. Aberrant amygdala activity is prominently implicated in studies of neuropsychiatric symptomology in non-HIV samples. Hence, this preliminary study examined: 1) the combined effects of HIV and high ELS on amygdala activity, and 2) the relation between amygdala activity and neuropsychiatric symptoms in HIV+ adults. We included 28 HIV+ adults and 25 demographically-matched HIV-negative control (HC) adults. ELS exposure was quantified using a retrospective ELS questionnaire, which defined four groups: HIV+ Low-ELS (N = 15); HIV+ High-ELS (N = 13); HC Low-ELS (N = 16); and HC High-ELS (N = 9). Participants completed a battery of neuropsychiatric measures. BOLD fMRI assessed amygdala reactivity during explicit observation of fearful/angry faces. High-ELS participants demonstrated reduced levels of amygdala reactivity relative to Low-ELS participants. HIV+ High-ELS participants reported higher levels of neuropsychiatric symptoms than all other groups. In the HIV+ group, lower amygdala responses were associated with higher neuropsychiatric symptoms, particularly depression, anxiety, and alexithymia. Collectively, these results suggest that high ELS exposure is a significant risk factor for neuropsychiatric symptoms in HIV+ adults. Furthermore, our results implicate ELS-related abnormalities in amygdala activity in the etiology of neuropsychiatric symptoms in HIV+ adults.

  17. Neuropsychiatric symptoms in patients with thymomaassociated and ...

    African Journals Online (AJOL)

    Background. Around 10 - 15% of patients with myasthenia gravis (MG) have a thymoma, and non-motor symptoms are more frequent in these patients. We hypothesised that neuropsychiatric symptoms would also be more frequent. Methods. A cross-sectional study of 30 consecutive MG patients attending a clinic at Groote ...

  18. Genetics of aggression.

    Science.gov (United States)

    Anholt, Robert R H; Mackay, Trudy F C

    2012-01-01

    Aggression mediates competition for food, mating partners, and habitats and, among social animals, establishes stable dominance hierarchies. In humans, abnormal aggression is a hallmark of neuropsychiatric disorders and can be elicited by environmental factors acting on an underlying genetic susceptibility. Identifying the genetic architecture that predisposes to aggressive behavior in people is challenging because of difficulties in quantifying the phenotype, genetic heterogeneity, and uncontrolled environmental conditions. Studies on mice have identified single-gene mutations that result in hyperaggression, contingent on genetic background. These studies can be complemented by systems genetics approaches in Drosophila melanogaster, in which mutational analyses together with genome-wide transcript analyses, artificial selection studies, and genome-wide analysis of epistasis have revealed that a large segment of the genome contributes to the manifestation of aggressive behavior with widespread epistatic interactions. Comparative genomic analyses based on the principle of evolutionary conservation are needed to enable a complete dissection of the neurogenetic underpinnings of this universal fitness trait.

  19. Genetics Home Reference: Stevens-Johnson syndrome/toxic epidermal necrolysis

    Science.gov (United States)

    ... Hung SI. Recent advances in the genetics and immunology of Stevens-Johnson syndrome and toxic epidermal necrosis. ... 2012 May 29. Citation on PubMed or Free article on PubMed Central More from Genetics Home Reference ...

  20. Scaling-up essential neuropsychiatric services in Ethiopia: a cost-effectiveness analysis.

    Science.gov (United States)

    Strand, Kirsten Bjerkreim; Chisholm, Dan; Fekadu, Abebaw; Johansson, Kjell Arne

    2016-05-01

    There is an immense need for scaling-up neuropsychiatric care in low-income countries. Contextualized cost-effectiveness analyses (CEAs) provide relevant information for local policies. The aim of this study is to perform a contextualized CEA of neuropsychiatric interventions in Ethiopia and to illustrate expected population health and budget impacts across neuropsychiatric disorders. A mathematical population model (PopMod) was used to estimate intervention costs and effectiveness. Existing variables from a previous WHO-CHOICE regional CEA model were substantially revised. Treatments for depression, schizophrenia, bipolar disorder and epilepsy were analysed. The best available local data on epidemiology, intervention efficacy, current and target coverage, resource prices and salaries were used. Data were obtained from expert opinion, local hospital information systems, the Ministry of Health and literature reviews. Treatment of epilepsy with a first generation antiepileptic drug is the most cost-effective treatment (US$ 321 per DALY adverted). Treatments for depression have mid-range values compared with other interventions (US$ 457-1026 per DALY adverted). Treatments for schizophrenia and bipolar disorders are least cost-effective (US$ 1168-3739 per DALY adverted). This analysis gives the Ethiopian government a comprehensive overview of the expected costs, effectiveness and cost-effectiveness of introducing basic neuropsychiatric interventions. © The Author 2015. Published by Oxford University Press in association with The London School of Hygiene and Tropical Medicine.

  1. Neuropsychiatric symptoms in patients with Alzheimer’s disease with a vascular component

    Directory of Open Access Journals (Sweden)

    Mariola Bidzan

    2014-06-01

    Full Text Available objective. Vascular changes are observed in most cases of Alzheimer’s disease (AD. Observations of AD and vascular disease (VD allow us to surmise that vascular changes may not only affect cognitive impairment in AD but may also have a negative influence on the neuropsychiatric symptoms which often occur in the course of the disease. The aim of the study was to evaluate the impact of vascular factors on the neuropsychiatric symptoms in Alzheimer’s Disease. material and methods. The study included 48 people with a preliminary diagnosis of Alzheimer’s Disease on the basis of NINCDS/ADRDA criteria. The evaluation of impairments in cognitive functioning was carried out by means of the Alzheimer Disease Assessment Scale – the cognitive part (ADAS – cog, whereas the behavioural and psychological symptoms were evaluated by means of the Neuropsychiatric Inventory – the version adapted for residents of nursing homes for the elderly (Neuropsychiatric Inventory – Nursing Home Version (NPI – NH. The score on the Hachinski scale was the basis for dividing the study participants into two groups – those with a mild vascular component (0–1 points on the Hachinski scale and those with a severe vascular component (2–4 points. results. The analyzed groups did not differ with respect to the intensity of cognitive impairments (ADAS-cog or age of the participants. Scores obtained on the NPI – NH scale as well as some of its elements (depression/dysphoria and anxiety had a discriminating value. Studies show that vascular factors are a serious risk factor for neuropsychiatric symptoms in AD. conclusions. Vascular factors in Alzheimer’s Disease influence the presence of neuropsychiatric symptoms. In the course of angiogenic dementia a greater frequency in depressive disorders was shown. The most visible differences between individuals with a greater and lesser burden of vascular factors was in the realm of depressive and dysphoric disorders.

  2. Glucocerebrosidase mutations and neuropsychiatric phenotypes in Parkinson's disease and Lewy body dementias: Review and meta-analyses.

    Science.gov (United States)

    Creese, Byron; Bell, Emily; Johar, Iskandar; Francis, Paul; Ballard, Clive; Aarsland, Dag

    2018-03-01

    Heterozygous mutations in glucocerebrosidase gene (GBA) are a major genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Recently, there has been a considerable focus on the relationship between GBA mutations and emergence of cognitive impairment and neuropsychiatric symptoms in these diseases. Here, we review the literature in this area, with a particular focus, including meta-analysis, on the key neuropsychiatric symptoms of cognitive impairment, psychosis, and depression in Parkinson's disease. Our meta-analysis demonstrated that GBA mutations are associated with a 2.4-fold increased risk of cognitive impairment. In addition, our novel meta-analyses of psychosis and depression showed a 1.8- and 2.2-fold increased risk respectively associated with GBA mutations, although due to possible bias and heterogeneity the depression findings should be interpreted with caution. While the precise mechanisms which increase susceptibility to neurodegeneration in GBA carriers are not known, evidence of greater cortical Lewy body pathology, reduced patterns of cortical activation, and hippocampal pathology in animal models are all consistent with a direct effect of GBA mutations on these symptoms. Extension of this work in DLB and individuals without neurodegeneration will be important in further characterizing how GBA mutations increase risk for PD and DLB and influence disease course. © 2017 Wiley Periodicals, Inc.

  3. Genetic structure of Bemisia tabaci Med populations from home-range countries, inferred by nuclear and cytoplasmic markers : impact on the distribution of the insecticide resistance genes

    OpenAIRE

    Gauthier, Nathalie; Clouet, C.; Perrakis, A.; Kapantaidaki, D.; Peterschmitt, M.; Tsagkarakou, A.

    2014-01-01

    BACKGROUND: Insecticide resistance management in Bemisia tabaci is one of the main issues facing agricultural production today. An extensive survey was undertaken in five Mediterranean countries to examine the resistance status of Med B. tabaci species in its range of geographic origin and the relationship between population genetic structure and the distribution of resistance genes. The investigation combined molecular diagnostic tests, sequence and microsatellite polymorphism studies and mo...

  4. Epigenetic Treatment of Neuropsychiatric Disorders: Autism and Schizophrenia.

    Science.gov (United States)

    Moos, Walter H; Maneta, Eleni; Pinkert, Carl A; Irwin, Michael H; Hoffman, Michelle E; Faller, Douglas V; Steliou, Kosta

    2016-03-01

    Neuropsychiatric disorders are a heterogeneous group of conditions that often share underlying mitochondrial dysfunction and biological pathways implicated in their pathogenesis, progression, and treatment. To date, these disorders have proven notoriously resistant to molecular-targeted therapies, and clinical options are relegated to interventional types, which do not address the core symptoms of the disease. In this review, we discuss emerging epigenetic-driven approaches using novel acylcarnitine esters (carnitinoids) that act on master regulators of antioxidant and cytoprotective genes and mitophagic pathways. These carnitinoids are actively transported, mitochondria-localizing, biomimetic coenzyme A surrogates of short-chain fatty acids, which inhibit histone deacetylase and may reinvigorate synaptic plasticity and protect against neuronal damage. We outline these neuroprotective effects in the context of treatment of neuropsychiatric disorders such as autism spectrum disorder and schizophrenia. © 2016 Wiley Periodicals, Inc.

  5. Gruppemusikterapi med patienter med borderline-personlighedsforstyrrelse i dagbehandlingsregi

    DEFF Research Database (Denmark)

    Hannibal, Niels

    2008-01-01

    Denne artikel er første redegørelse for de erfaringer, som er gjort med gruppemusikterapi (GMT) for patienter med borderline-personlighedsforstyrrelse (BPF) i dagbehandlingsregi på Aalborg Psykiatriske Sygehus. Artiklen indeholder både konkrete anvisninger til aktiviteter og interventioner, liges...

  6. Structured physical exercise improves neuropsychiatric symptoms in acute dementia care: a hospital-based RCT.

    Science.gov (United States)

    Fleiner, Tim; Dauth, Hannah; Gersie, Marleen; Zijlstra, Wiebren; Haussermann, Peter

    2017-08-29

    The primary objective of this trial is to investigate the effects of a short-term exercise program on neuropsychiatric signs and symptoms in acute hospital dementia care. Within a hospital-based randomized controlled trial, the intervention group conducted a 2-week exercise program with four 20-min exercise sessions on 3 days per week. The control group conducted a social stimulation program. Effects on neuropsychiatric signs and symptoms were measured via the Alzheimer's Disease Cooperative Study-Clinical Global Impression of Change, the Neuropsychiatric Inventory, and the Cohen-Mansfield Agitation Inventory. The antipsychotic and sedative dosage was quantified by olanzapine and diazepam equivalents. Eighty-five patients were randomized via minimization to an intervention group (IG) and a control group (CG). Seventy patients (82%) (mean age 80 years, 33 females, mean Mini Mental State Examination score 18.3 points) completed the trial. As compared to the CG (n = 35), the IG (n = 35) showed significantly reduced neuropsychiatric signs and symptoms. Especially, agitated behavior and lability improved. There were no between-group differences concerning antipsychotic and benzodiazepine medication. This exercise program is easily applicable in hospital dementia care and significantly reduces neuropsychiatric signs and symptoms in patients suffering from predominantly moderate stages of dementia. German Clinical Trial Register DRKS00006740 . Registered 28 October 2014.

  7. An Evaluation of Neuropsychiatric Symptoms in Parkinson's Disease ...

    African Journals Online (AJOL)

    2017-09-14

    Sep 14, 2017 ... Parkinson's disease (PD) is a chronic, progressive, and neurodegenerative disease which may present with complaints of tremor, bradykinesia, rigidity, and postural imbalance. Besides motor symptoms, neuropsychiatric symptoms such as depression, hallucination, anxiety, sleep disorders, and psychosis.

  8. Neuropsychiatric events attributed to systemic lupus erythematosus: a single center study form pakistan

    International Nuclear Information System (INIS)

    Mumtaz, S.; Rasheed, U.; Zammurrad, S.; Aziz, W.

    2017-01-01

    Neuropsychiatric systemic lupus erythematosus (NPSLE) is a relatively common and potentially serious manifestation of SLE. This study was designed to collect evidence about clinical and demographic characteristics of patients with NPSLE in a Pakistani lupus cohort. ethodology: This cross-sectional study was conducted at Department of Rheumatology, Pakistan Institute of Medical Sciences, Islamabad, Pakistan between July 2016 and December 2016. Patients fulfilling diagnostic criteria for SLE as defined by ACR were enrolled. For detection of neuropsychiatric involvement the One-Hour Neuropsychological Battery proposed by the ACR was performed. Neuropsychiatric manifestations were classified into major and minor. Relationship of presence and severity of individual neuropsychiatric manifestations to disease duration in years and organ damage using SLICC/ACR-DI was studied. esults: Out of 100 SLE patients, there were 96 females and 4 males (female to male ratio of 24:1). Mean age of all participants was 30.99 years (range 17-72 years) and average disease duration at the time of enrolment was 3.89 years. Neuropsychiatric manifestations were observed in 84 patients. 20 out of these 84 patients (23.8%) had major neurological manifestations including seizures (13 patients), altered consciousness (10 patients) and cerebro-vascular accident (5 patients). While 7 out of these 84 patients (8.3%) had major psychiatric manifestations including psychosis (5 patients) and depression with suicidal ideation (2 patients). All major neurological manifestations occurred beyond and major psychiatric manifestations occurred within 2 years of diagnosis of SLE. Minor psychiatric manifestations observed included severe anxiety (52 patients), cognitive impairment (43 patients) and mood disorder (25 patients). No statistically significant difference in mean SLICC/ACR-DI score was observed between NPSLE patients and non-NPSLE patients when points received for neurologically related damage were

  9. PubMedReco: A Real-Time Recommender System for PubMed Citations.

    Science.gov (United States)

    Samuel, Hamman W; Zaïane, Osmar R

    2017-01-01

    We present a recommender system, PubMedReco, for real-time suggestions of medical articles from PubMed, a database of over 23 million medical citations. PubMedReco can recommend medical article citations while users are conversing in a synchronous communication environment such as a chat room. Normally, users would have to leave their chat interface to open a new web browser window, and formulate an appropriate search query to retrieve relevant results. PubMedReco automatically generates the search query and shows relevant citations within the same integrated user interface. PubMedReco analyzes relevant keywords associated with the conversation and uses them to search for relevant citations using the PubMed E-utilities programming interface. Our contributions include improvements to the user experience for searching PubMed from within health forums and chat rooms, and a machine learning model for identifying relevant keywords. We demonstrate the feasibility of PubMedReco using BMJ's Doc2Doc forum discussions.

  10. Neuropsychiatric Symptoms in an Inpatient Parkinson’s Disease Sample

    Directory of Open Access Journals (Sweden)

    Nicole C. R. McLaughlin

    2014-01-01

    Full Text Available Background. Neuropsychiatric symptoms are common in idiopathic Parkinson’s disease (PD, and hospitalization for delirium, depression, psychosis, and anxiety is sometimes required. A minimal amount of data exists on these patients. Methods. Charts of all patients admitted to a psychiatric hospital between 2006 and 2009 with a diagnosis of PD were reviewed. Forty-three met entry criteria and were reviewed. Initial and discharge diagnoses, comorbid psychiatric diagnoses, length of stay, and living arrangements before and after hospitalization are described. Results. Consistent with previous research, this study showed evidence of comorbid psychiatric disorders within PD. Conclusions. The long-term goal of this area of study would be to reduce neuropsychiatric symptoms and improve quality of life in order to reduce inpatient hospital stays.

  11. The Neuropsychiatric Inventory--NPI. Validation of the Danish version

    DEFF Research Database (Denmark)

    Korner, A.; Lauritzen, Lotte; Lolk, A.

    2008-01-01

    NPI and NPI-VAS were high; only two domains had coefficients below 0.60: depression and agitation/aggression. NPI-total scores increase with increasing severity of dementia. The NPI did not fulfil the scalability assessed by the Mokken and Loevinger coefficients. The NPI Danish version is valid......Assessment of neuropsychiatric symptoms in dementia has great clinical importance. The aim of the study was validation of the Danish version of the NPI, using assessments of 72 demented and 29 non-demented of age 65+ years and their caregivers at three visits. The NPI was administered by the same...... and reliable in assessing neuropsychiatric symptoms in dementia but not fully scalable. The use of single item scores and not total sum score is recommended Udgivelsesdato: 2008...

  12. Familial aggregation of Parkinson’s disease and coaggregation with neuropsychiatric diseases: a population-based cohort study

    Directory of Open Access Journals (Sweden)

    Liu FC

    2018-05-01

    Full Text Available Fu-Chao Liu,1,2,* Huan-Tang Lin,1,2,* Chang-Fu Kuo,2–4 Mei-Yun Hsieh,4 Lai-Chu See,3,5,6 Huang-Ping Yu1,2,7 1Department of Anesthesiology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; 2College of Medicine, Chang Gung University, Taoyuan, Taiwan; 3Division of Rheumatology, Allergy and Immunology, Chang Gung Memorial Hospital, Taoyuan, Taiwan; 4Office for Big Data Research, Chang Gung Memorial Hospital, Taoyuan, Taiwan; 5Department of Public Health, College of Medicine, Chang Gung University, Taoyuan, Taiwan; 6Biostatistics Core Laboratory, Molecular Medicine Research Center, Chang Gung University, Taoyuan, Taiwan; 7Department of Anesthesiology, Xiamen Changgung Hospital, Xiamen, China *These authors contributed equally to this work Background: Individuals with a family history of Parkinson’s disease (PD appear to have a higher risk of developing PD and other neuropsychiatric diseases. However, estimates of the relative risks (RRs of PD and the roles of genetic and environmental factors in PD susceptibility are unclear. The aim of this study was to examine familial aggregation and genetic contributions to PD and the RRs of other neuropsychiatric diseases in relatives of PD patients. Methods: In this population-based family cohort study, the records of all individuals actively registered in the Taiwan National Health Insurance Research Database in 2015 were queried (N=24,349,599. In total, 149,187 individuals with a PD-affected parent, 3,698 with an affected offspring, 3,495 with an affected sibling, and 15 with an affected twin were identified. Diagnoses of PD were ascertained between January 1, 1999, and December 31, 2015. The prevalence and RRs of PD and other neuropsychiatric diseases in individuals with first-degree relatives with PD, as well as the contributions of heritability and environmental factors to PD susceptibility were investigated. Results: The prevalence of PD was 0.46% in the general population and 0.52% in individuals with

  13. Acute neuropsychiatric disorders in adolescents and young adults with Down syndrome: Japanese case reports

    Directory of Open Access Journals (Sweden)

    Akahoshi K

    2012-07-01

    Full Text Available Keiko Akahoshi,1 Hiroshi Matsuda,2 Masuko Funahashi,1 Tomoyuki Hanaoka,3 Yasuyuki Suzuki11Department of Pediatrics, Tokyo Children’s Rehabilitation Hospital, Tokyo; 2Department of Nuclear Medicine, Saitama Medical University, International Medical Center, Saitama; 3Department of Pediatrics, Bihoro Rehabilitation Hospital, Hokkaido, JapanBackground: The aim of this study was to evaluate acute neuropsychiatric disorders in adolescents and young adults with Down syndrome. We report 13 Japanese adolescents or young adults with Down syndrome who developed acute neuropsychiatric disorders including withdrawal, depression, obsessive-compulsive behaviors, and occasional delusions or hallucinations.Methods: The following information was collected from each patient: age at onset of acute neuropsychiatric disorder, complications, signs and symptoms, personality traits before the onset of the acute neuropsychiatric disorder, prescribed medications with their respective doses and the response to treatment, and senile changes observed on magnetic resonance imaging or computed tomography.Results: The mean age at onset of these disorders was 21.2 years. Brain imaging showed almost senile changes; patients responded well to low-dose psychotropic therapy. Patients had an onset at a young age and presented with treatable conditions, although the average age of the onset of Alzheimer’s disease is generally over 40 years of age in patients with Down syndrome.Conclusion: These findings suggest that the pathology of acute neuropsychiatric disorder in patients with Down syndrome may be related to presenile changes; however, these disorders present features and a clinical course that is different from those presented in typical Alzheimer’s disease with Down syndrome.Keywords: Down syndrome, acute neuropsychiatric disorders, Alzheimer’s disease

  14. Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal Infections (PANDAS: An Evolving Concept

    Directory of Open Access Journals (Sweden)

    Antonella Macerollo

    2013-09-01

    Full Text Available Pediatric autoimmune neuropsychiatric disorders associated with streptococcus infections (PANDAS originated from the observational work of Swedo and collaborators, who formalized their definition in 1998 in a set of operational criteria. The application of these criteria, which focuses on tics and obsessive-compulsive symptoms as core symptoms, has encountered difficulties, eventually leading to a high rate of misdiagnosis. In particular, the core feature represented by the association between newly diagnosed infections and neuropsychiatric symptom relapses in youths with this diagnosis could not be demonstrated by longitudinal studies. Exploratory studies aiming to identify clinical or cognitive features that could discriminate PANDAS from other pediatric obsessive-compulsive and tic disorders present methodological limitations, and therefore are not conclusive. Other behavioral features, in addition to obsessive-compulsive symptoms and tics, have been included in pediatric acute-onset neuropsychiatric syndromes (PANS and childhood acute neuropsychiatric syndromes (CANS, two new concepts recently proposed in order to define a much broader clinical spectrum encompassing etiologically diverse entities. Given the uncertainties on the clinical definition of PANDAS, it is not surprising that evidence in support of a post-infectious, immune-mediated pathophysiology is also insufficient. Anti-dopamine receptor antibodies might be relevant to both Sydenham’s chorea (SC—the prototypical post-streptococcal neuropsychiatric disorder—and some rare forms of encephalitis targeting the basal ganglia specifically, but studies exploring their association with children fulfilling Swedo’s criteria for PANDAS have been inconclusive. Moreover, we lack evidence in favor of the efficacy of antibiotic prophylaxis or tonsillectomy in patients fulfilling Swedo’s criteria for PANDAS, whereas a response to immune-mediated treatments like intravenous

  15. Clinical and subclinical neuropsychiatric abnormalities in rheumatoid arthritis patients

    Directory of Open Access Journals (Sweden)

    Eman M Khedr

    2015-01-01

    Conclusion Cognitive impairment, depression, anxiety and peripheral neuropathy are common in RA patients. Early diagnosis and management of neuropsychiatric disorders in RA patients may greatly improve the patients′ health-related quality of life.

  16. Neuropsychiatric symptoms and celiac disease

    OpenAIRE

    Urban-Kowalczyk, Małgorzata; Œmigielski, Janusz; Gmitrowicz, Agnieszka

    2014-01-01

    Małgorzata Urban-Kowalczyk,1 Janusz Śmigielski,2 Agnieszka Gmitrowicz3 1Affective and Psychotic Disorders Department, Medical University of Łódź, Åódź, Poland; 2Department of Geriatric Medicine Medical University of Åódź, Åódź, Poland; 3Department of Adolescent Psychiatry, Medical University of Åódź, Åódź, Poland Background: Neuropsychiatric symptoms may represent an ...

  17. An evaluation of neuropsychiatric symptoms in Parkinson's disease ...

    African Journals Online (AJOL)

    Hoehn-Yahr (HY) scale was used to evaluate the clinical stages of PD and Unified Parkinson's Disease Rating Scale (UPDRS) was used to evaluate the severity of clinical signs. Cognitive functions were evaluated by Mini-Mental State Examination (MMSE) and neuropsychiatric findings were evaluated by Beck Depression ...

  18. Comprehensive behavioural analysis of Long Evans and Sprague-Dawley rats reveals differential effects of housing conditions on tests relevant to neuropsychiatric disorders.

    Directory of Open Access Journals (Sweden)

    Karly M Turner

    Full Text Available Genetic (G and environmental (E manipulations are known to alter behavioural outcomes in rodents, however many animal models of neuropsychiatric disorders only use a restricted selection of strain and housing conditions. The aim of this study was to examine GxE interactions comparing two outbred rat strains, which were housed in either standard or enriched cages. The strains selected were the albino Sprague-Dawley rat, commonly used for animal models, and the other was the pigmented Long Evans rat, which is frequently used in cognitive studies. Rats were assessed using a comprehensive behavioural test battery and included well-established tests frequently employed to examine animal models of neuropsychiatric diseases, measuring aspects of anxiety, exploration, sensorimotor gating and cognition. Selective strain and housing effects were observed on a number of tests. These included increased locomotion and reduced pre-pulse inhibition in Long Evans rats compared to Sprague Dawley rats; and rats housed in enriched cages had reduced anxiety-like behaviour compared to standard housed rats. Long Evans rats required fewer sessions than Sprague Dawley rats to learn operant tasks, including a signal detection task and reversal learning. Furthermore, Long Evans rats housed in enriched cages acquired simple operant tasks faster than standard housed Long Evans rats. Cognitive phenotypes in animal models of neuropsychiatric disorders would benefit from using strain and housing conditions where there is greater potential for both enhancement and deficits in performance.

  19. Systematic Review and Meta-Analysis of Neuropsychiatric Symptoms and Executive Functioning in Adults With Phenylketonuria

    Science.gov (United States)

    Bilder, Deborah A.; Noel, J. Kay; Baker, Erin R.; Irish, William; Chen, Yinpu; Merilainen, Markus J.; Prasad, Suyash; Winslow, Barbara J.

    2016-01-01

    ABSTRACT This systematic review and meta-analysis (MA) investigates the impact of elevated blood phenylalanine (Phe) on neuropsychiatric symptoms in adults with phenylketonuria (PKU). The meta-analysis of PKU is challenging because high-quality evidence is lacking due to the limited number of affected individuals and few placebo-controlled, double-blind studies of adults with high and low blood Phe. Neuropsychiatric symptoms associated with PKU exceed general population estimates for inattention, hyperactivity, depression, and anxiety. High Phe is associated with an increased prevalence of neuropsychiatric symptoms and executive functioning deficits whereas low Phe is associated with improved neurological performance. Findings support lifelong maintenance of low blood Phe. PMID:27805419

  20. Genetics Home Reference: CLPB deficiency

    Science.gov (United States)

    ... of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. J Med Genet. 2015 ... genetic testing? What is precision medicine? What is newborn screening? New Pages LMNA-related congenital muscular dystrophy ...

  1. Musikterapi med børn med svær autisme - en litteraturgennemgang

    Directory of Open Access Journals (Sweden)

    Ulla Holck

    2003-03-01

    Full Text Available Faglitteratur om musikterapi med børn med autisme er omfattende og indeholder såvel kvalitative case-beskrivelser som kvantitative forskningsundersøgelser. I artiklen gennemgås faglitteraturen systematisk med henblik på at specifi cere musikterapiens effekt og virkemåder i forhold til denne målgruppe. Vægten ligger på børn med svær autisme, men litteratur om voksne højtfungerende personer med autisme inddrages også. Forskningslitteraturen viser, at det især er inden for områderne koncentration, visuel opmærksomhed, respons og initiativ, samt brug af stemme og tur-tagning, at musikterapi har en effekt. Case-litteraturen begrunder denne effekt med musikkens evne til at være redundant, anvendelse af imitation og responsfremmende teknikker (overraskelse etc., fælles opbyggede samspilsformer, samt det temporale-interaktive element i improvisatorisk musikterapi. Ud fra en interaktionsteoretisk indfaldsvinkel sammenkobles effekten endvidere med, at den musikalske interaktion hjælper musikterapeuten til at fastholde et dynamisk udtryk, hvilket er afgørende i forhold til en klientgruppe, der ofte giver ´flad´ eller stærkt afvigende feedback.

  2. Nostalgitrip med Pikachu

    DEFF Research Database (Denmark)

    Konzack, Lars

    2016-01-01

    Sommeren 2016 vil blive husket for den omsiggribende dille, Pokémon Go, med over 100 millioner downloads. Tusindvis af især børn og unge, men også forældre med barnevogne og hele familier, kunne pludselig ses på gader og stræder, i parker og grønne områder med en smartphone i hånden på jagt efter...

  3. A dimensional approach to modeling symptoms of neuropsychiatric disorders in the marmoset monkey

    Science.gov (United States)

    Oikonomidis, Lydia; Santangelo, Andrea M.; Shiba, Yoshiro; Clarke, F. Hannah; Robbins, Trevor W.

    2017-01-01

    ABSTRACT Some patients suffering from the same neuropsychiatric disorder may have no overlapping symptoms whilst others may share symptoms common to other distinct disorders. Therefore, the Research Domain Criteria initiative recognises the need for better characterisation of the individual symptoms on which to focus symptom‐based treatment strategies. Many of the disorders involve dysfunction within the prefrontal cortex (PFC) and so the marmoset, due to their highly developed PFC and small size, is an ideal species for studying the neurobiological basis of the behavioural dimensions that underlie these symptoms.Here we focus on a battery of tests that address dysfunction spanning the cognitive (cognitive inflexibility and working memory), negative valence (fear generalisation and negative bias) and positive valence (anhedonia) systems pertinent for understanding disorders such as ADHD, Schizophrenia, Anxiety, Depression and OCD. Parsing the separable prefrontal and striatal circuits and identifying the selective neurochemical modulation (serotonin vs dopamine) that underlie cognitive dysfunction have revealed counterparts in the clinical domain. Aspects of the negative valence system have been explored both at individual‐ (trait anxiety and genetic variation in serotonin transporter) and circuit‐based levels enabling the understanding of generalisation processes, negative biases and differential responsiveness to SSRIs. Within the positive valence system, the combination of cardiovascular and behavioural measures provides a framework for understanding motivational, anticipatory and consummatory aspects of anhedonia and their neurobiological mechanisms. Together, the direct comparison of experimental findings in marmosets with clinical studies is proving an excellent translational model to address the behavioural dimensions and neurobiology of neuropsychiatric symptoms. © 2016 The Authors. Developmental Neurobiology Published by Wiley Periodicals, Inc

  4. Influence of gut microbiota on neuropsychiatric disorders.

    Science.gov (United States)

    Cenit, María Carmen; Sanz, Yolanda; Codoñer-Franch, Pilar

    2017-08-14

    The last decade has witnessed a growing appreciation of the fundamental role played by an early assembly of a diverse and balanced gut microbiota and its subsequent maintenance for future health of the host. Gut microbiota is currently viewed as a key regulator of a fluent bidirectional dialogue between the gut and the brain (gut-brain axis). A number of preclinical studies have suggested that the microbiota and its genome (microbiome) may play a key role in neurodevelopmental and neurodegenerative disorders. Furthermore, alterations in the gut microbiota composition in humans have also been linked to a variety of neuropsychiatric conditions, including depression, autism and Parkinson's disease. However, it is not yet clear whether these changes in the microbiome are causally related to such diseases or are secondary effects thereof. In this respect, recent studies in animals have indicated that gut microbiota transplantation can transfer a behavioral phenotype, suggesting that the gut microbiota may be a modifiable factor modulating the development or pathogenesis of neuropsychiatric conditions. Further studies are warranted to establish whether or not the findings of preclinical animal experiments can be generalized to humans. Moreover, although different communication routes between the microbiota and brain have been identified, further studies must elucidate all the underlying mechanisms involved. Such research is expected to contribute to the design of strategies to modulate the gut microbiota and its functions with a view to improving mental health, and thus provide opportunities to improve the management of psychiatric diseases. Here, we review the evidence supporting a role of the gut microbiota in neuropsychiatric disorders and the state of the art regarding the mechanisms underlying its contribution to mental illness and health. We also consider the stages of life where the gut microbiota is more susceptible to the effects of environmental stressors, and

  5. Genetics Home Reference: PURA syndrome

    Science.gov (United States)

    ... TJ, Vreeburg M, Rouhl RPW, Stevens SJC, Stegmann APA, Schieving J, Pfundt R, van Dijk K, Smeets ... article on PubMed Central More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  6. Interview med børn

    DEFF Research Database (Denmark)

    Interview med børn handler om børneinterview i forbindelse med forskning. Bogen er tænkt som inspiration til og afsæt for metodiske refleksioner i forbindelse med inddragelse af børn som informanter.......Interview med børn handler om børneinterview i forbindelse med forskning. Bogen er tænkt som inspiration til og afsæt for metodiske refleksioner i forbindelse med inddragelse af børn som informanter....

  7. Genetics Home Reference: glutaric acidemia type I

    Science.gov (United States)

    ... Glutaric acidemia type 1 in patients of Lumbee heritage from North Carolina. Mol Genet Metab. 2006 May; ... 825-8. Review. Citation on PubMed More from Genetics Home Reference Bulletins Genetics Home Reference Celebrates Its ...

  8. Prenatal exposure to very severe maternal obesity is associated with adverse neuropsychiatric outcomes in children.

    Science.gov (United States)

    Mina, T H; Lahti, M; Drake, A J; Räikkönen, K; Minnis, H; Denison, F C; Norman, J E; Reynolds, R M

    2017-01-01

    Prenatal maternal obesity has been linked to adverse childhood neuropsychiatric outcomes, including increased symptoms of attention deficit hyperactivity disorder (ADHD), internalizing and externalizing problems, affective disorders and neurodevelopmental problems but few studies have studied neuropsychiatric outcomes among offspring born to very severely obese women or assessed potential familial confounding by maternal psychological distress. We evaluated neuropsychiatric symptoms in 112 children aged 3-5 years whose mothers had participated in a longitudinal study of obesity in pregnancy (50 very severe obesity, BMI ⩾40 kg/m2, obese class III and 62 lean, BMI 18.5-25 kg/m2). The mothers completed the Conners' Hyperactivity Scale, Early Symptomatic Syndrome Eliciting Neurodevelopmental Clinical Examination Questionnaire (ESSENCE-Q), Child's Sleep Habits Questionnaire (CSHQ), Strengths and Difficulties Questionnaire (SDQ), and Child Behavior Checklist (CBCL) to assess child neuropsychiatric symptoms. Covariates included child's sex, age, birthweight, gestational age, socioeconomic deprivation levels, maternal age, parity, smoking status during pregnancy, gestational diabetes and maternal concurrent symptoms of anxiety and depression assessed using State Anxiety of Spielberger State-Trait Anxiety Index (STAI) and General Health Questionnaire (GHQ), respectively. Children exposed to prenatal maternal very severe obesity had significantly higher scores in the Conners' Hyperactivity Scale; ESSENCE-Q; total sleep problems in CSHQ; hyperactivity, conduct problems and total difficulties scales of the SDQ; higher externalizing and total problems, anxious/depressed, aggressive behaviour and other problem syndrome scores and higher DSM-oriented affective, anxiety and ADHD problems in CBCL. Prenatal maternal very severe obesity remained a significant predictor of child neuropsychiatric problems across multiple scales independent of demographic factors, prenatal factors and

  9. Virtuelt skrivebord med open office

    DEFF Research Database (Denmark)

    Nielsen, Kurt Gammelgaard

    2009-01-01

    SDUs erfaringer med projektet Port 22: en virtuel platform med Open Office som kontorpakke til studerende.......SDUs erfaringer med projektet Port 22: en virtuel platform med Open Office som kontorpakke til studerende....

  10. Genetics of hereditary neurological disorders in children.

    Science.gov (United States)

    Huang, Yue; Yu, Sui; Wu, Zhanhe; Tang, Beisha

    2014-04-01

    Hereditary neurological disorders (HNDs) are relatively common in children compared to those occurring in adulthood. Recognising clinical manifestations of HNDs is important for the selection of genetic testing, genetic testing results interpretation, and genetic consultation. Meanwhile, advances in next generation sequencing (NGS) technologies have significantly enabled the discovery of genetic causes of HNDs and also challenge paediatricians on applying genetic investigation. Combination of both clinical information and advanced technologies will enhance the genetic test yields in clinical setting. This review summarises the clinical presentations as well as genetic causes of paediatric neurological disorders in four major areas including movement disorders, neuropsychiatric disorders, neuron peripheral disorders and epilepsy. The aim of this review is to help paediatric neurologists not only to see the clinical features but also the complex genetic aspect of HNDs in order to utilise genetic investigation confidently in their clinical practice. A smooth transition from research based to clinical use of comprehensive genetic testing in HNDs in children could be foreseen in the near future while genetic testing, genetic counselling and genetic data interpretation are in place appropriately.

  11. Anatomy and Cell Biology of Autism Spectrum Disorder : Lessons from Human Genetics

    NARCIS (Netherlands)

    Kleijer, Kristel T E; Huguet, Guillaume; Tastet, Julie; Bourgeron, Thomas; Burbach, J P H

    2017-01-01

    Until recently autism spectrum disorder (ASD) was regarded as a neurodevelopmental condition with unknown causes and pathogenesis. In the footsteps of the revolution of genome technologies and genetics, and with its high degree of heritability, ASD became the first neuropsychiatric disorder for

  12. Characterization of the Pediatric Acute-Onset Neuropsychiatric Syndrome Phenotype

    Science.gov (United States)

    Patel, Priyal D.; McGuire, Joseph F.; Kennel, Allison; Mutch, P. Jane; Parker-Athill, E. Carla; Hanks, Camille E.; Lewin, Adam B.; Storch, Eric A.; Toufexis, Megan D.; Dadlani, Gul H.; Rodriguez, Carina A.

    2015-01-01

    Abstract Objective: Pediatric acute-onset neuropsychiatric syndrome (PANS) is a subtype of obsessive compulsive disorder (OCD) marked by an abrupt onset or exacerbation of neuropsychiatric symptoms. We aim to characterize the phenotypic presentation of youth with PANS. Methods: Forty-three youth (ages 4–14 years) meeting criteria for PANS were assessed using self-report and clinician-administered measures, medical record reviews, comprehensive clinical evaluation, and laboratory measures. Results: Youth with PANS presented with an early age of OCD onset (mean=7.84 years) and exhibited moderate to severe obsessive compulsive symptoms upon evaluation. All had comorbid anxiety and emotional lability, and scored well below normative means on all quality of life subscales. Youth with elevated streptococcal antibody titers trended toward having higher OCD severity, and presented more frequently with dilated pupils relative to youth without elevated titers. A cluster analysis of core PANS symptoms revealed three distinct symptom clusters that included core characteristic PANS symptoms, streptococcal-related symptoms, and cytokine-driven/physiological symptoms. Youth with PANS who had comorbid tics were more likely to exhibit a decline in school performance, visuomotor impairment, food restriction symptoms, and handwriting deterioration, and they reported lower quality of life relative to youth without tics. Conclusions: The sudden, acute onset of neuropsychiatric symptoms, high frequency of comorbidities (i.e., anxiety, behavioral regression, depression, and suicidality), and poor quality of life capture the PANS subgroup as suddenly and severely impaired youth. Identifying clinical characteristics of youth with PANS will allow clinicians to diagnose and treat this subtype of OCD with a more strategized and effective approach. PMID:25314221

  13. Neuropsychiatric symptoms in Vascular Cognitive Impairment: A systematic review

    Directory of Open Access Journals (Sweden)

    Chan Tiel

    Full Text Available Neuropsychiatric symptoms or Behavioral and Psychological Symptoms of Dementia (BPSD are common and invariably appear at some point during the course of the disease, mediated both by cerebrovascular disease and neurodegenerative processes. Few studies have compared the profiles of BPSD in Vascular Cognitive Impairment (VCI of different subtypes (subcortical or cortical and clinical stages (Vascular Cognitive Impairment No Dementia [VaCIND] and Vascular Dementia [VaD].Objective:To review the BPSD associated with different subtypes and stages of VCI using the Neuropsychiatric Inventory (NPI.Methods:Medline, Scielo and Lilacs databases were searched for the period January 2000 to December 2014, with the key words: "BPSD AND Vascular Dementia, "NPI AND Vascular Dementia" and "NPI AND VCI. Qualitative analysis was performed on studies evaluating BPSD in VCI, using the Neuropsychiatric Inventory (NPI.Results:A total of 82 studies were retrieved of which 13 were eligible and thus included. Among the articles selected, 4 compared BPSD in Subcortical Vascular Dementia (SVaD versus Cortical-Subcortical Vascular Dementia (CSVaD, 3 involved comparisons between SVaD and VaCIND, 1 study analyzed differences between CSVaD and VaCIND, while 5 studies assessed BPSD in CSVaD. Subcortical and Cortical-Subcortical VaD were associated predominantly with Apathy and Depression. VaCIND may present fewer behavioral symptoms than VaD.Conclusion:The profile of BPSD differs for different stages of VCI. Determining the most prevalent BPSD in VCI subtypes might be helpful for improving early diagnosis and management of these symptoms.

  14. The 43rd Infantry Division: Unit Cohesion and Neuropsychiatric Casualties

    National Research Council Canada - National Science Library

    Fuschak, K

    1999-01-01

    ..., The Solomon Islands, from July to September 1943. The study explores the multiple causes of these casualties, to include ignorance of lessons learned regarding neuropsychiatric casualties in World War I, general unpreparedness, poor training...

  15. Management of Depression and Related Neuropsychiatric Symptoms Associated with HIV/AIDS and Antiretroviral Therapy

    OpenAIRE

    Mark Halman

    2001-01-01

    Persons with HIV/AIDS may experience a wide range of neuropsychiatric symptoms, including depressed mood, anxiety, irritability, suicidal ideation, agitation and insomnia. These symptoms may be related to psychosocial stressors, biological diathesis to psychiatric syndromes, HIV-related medical illness and/or the medications used in the treatment of HIV/AIDS. Depressed mood is the most common neuropsychiatric complaint in persons with HIV/AIDS seeking psychiatric evaluation. Prevalence rates ...

  16. Neuropsychiatric Symptoms in Systemic Lupus Erythematosus - Case Report

    Directory of Open Access Journals (Sweden)

    Sandra Almeida

    2014-10-01

    Full Text Available Systemic lupus erythematosus (SLE is a chronic inflammatory autoimmune disease of unknown etiology, with episodic course. It is characterized by periods of relative quiescence and periods of exacerbations which may involve any organ or system. About a young woman with a clinical delirium state, we revised the clinical neuropsychiatric features of SLE in the literature.

  17. MED23-associated intellectual disability in a non-consanguineous family.

    Science.gov (United States)

    Trehan, Aditi; Brady, Jacqueline M; Maduro, Valerie; Bone, William P; Huang, Yan; Golas, Gretchen A; Kane, Megan S; Lee, Paul R; Thurm, Audrey; Gropman, Andrea L; Paul, Scott M; Vezina, Gilbert; Markello, Thomas C; Gahl, William A; Boerkoel, Cornelius F; Tifft, Cynthia J

    2015-06-01

    Intellectual disability (ID) is a heterogeneous condition arising from a variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report on two brothers in a nonconsanguineous family with novel compound heterozygous, disease-segregating mutations (NM_015979.3: [3656A > G];[4006C > T], NP_057063.2: [H1219R];[R1336X]) in MED23. This gene encodes a subunit of the Mediator complex that modulates the expression of RNA polymerase II-dependent genes. These brothers, who had profound ID, spasticity, congenital heart disease, brain abnormalities, and atypical electroencephalography, represent the first case of MED23-associated ID in a non-consanguineous family. They also expand upon the clinical features previously reported for mutations in this gene. © 2015 Wiley Periodicals, Inc.

  18. MedSun Reports

    Data.gov (United States)

    U.S. Department of Health & Human Services — The Medical Product Safety Network (MedSun) is an adverse event reporting program launched in 2002. The primary goal for MedSun is to work collaboratively with the...

  19. Infectious component of the pediatric acute-onset neuropsychiatric syndrome (PANS in terms of evidence-based medicine principles (review of literature

    Directory of Open Access Journals (Sweden)

    L.O. Bezrukov

    2017-04-01

    Full Text Available The first clinical cases of obsessive-compulsive di­sorder and/or tic disorder in children with acute sudden onset associated with infectious diseases have been named pediatric infection-triggered autoimmune neuropsychiatric disorders (PITANDS. The relationship of such neuropsychiatric manifestations with preceding infectious diseases caused by group A beta-hemolytic Streptococcus was the most important, and it has been called paediatric autoimmune neuropsychiatric disorder associated with streptococcal infection (PANDAS. Due to the low level of evidence of the research on the relationship of infectious agents with neurological and behavioral symptoms with an acute onset, since 2014 another syndrome is diagnosed in children — pediatric acute-onset neuropsychiatric syndrome (PANS. Currently, the question about infectious etiology, pathogenesis and autoimmune mechanisms of these paediatric neuropsychiatric syndromes are still debatable.

  20. Novel genetic loci associated with hippocampal volume

    OpenAIRE

    Hibar, Derrek P.; Adams, Hieab H. H.; Jahanshad, Neda; Chauhan, Ganesh; Stein, Jason L.; Hofer, Edith; Renteria, Miguel E.; Bis, Joshua C.; Arias-Vasquez, Alejandro; Ikram, M. Kamran; Desrivieres, Sylvane; Vernooij, Meike W.; Abramovic, Lucija; Alhusaini, Saud; Amin, Najaf

    2017-01-01

    International audience; The hippocampal formation is a brain structure integrally involved in episodic memory, spatial navigation, cognition and stress responsiveness. Structural abnormalities in hippocampal volume and shape are found in several common neuropsychiatric disorders. To identify the genetic underpinnings of hippocampal structure here we perform a genome-wide association study (GWAS) of 33,536 individuals and discover six independent loci significantly associated with hippocampal ...

  1. Neuropsychiatric effects of neurodegeneration of the medial vs. lateral ventral prefrontal cortex in humans

    OpenAIRE

    Huey, Edward D.; Lee, Seonjoo; Brickman, Adam M.; Manoochehri, Masood; Griffith, Erica; Devanand, D.P.; Stern, Yaakov; Grafman, Jordan

    2015-01-01

    Animal evidence suggests that a brain network involving the medial and rostral ventral prefrontal cortex (PFC) is central for threat response and arousal and a network involving the lateral and caudal PFC plays an important role in reward learning and behavioral control. In this study, we contrasted the neuropsychiatric effects of degeneration of the medial versus lateral PFC in 43 patients with Frontotemporal dementia and 11 patients with Corticobasal Syndrome using MRI, the Neuropsychiatric...

  2. The MedDRA paradox.

    Science.gov (United States)

    Merrill, Gary H

    2008-11-06

    MedDRA (the Medical Dictionary for Regulatory Activities Terminology) is a controlled vocabulary widely used as a medical coding scheme. However, MedDRA's characterization of its structural hierarchy exhibits some confusing and paradoxical features. The goal of this paper is to examine these features, determine whether there is a coherent view of the MedDRA hierarchy that emerges, and explore what lessons are to be learned from this for using MedDRA and similar terminologies in a broad medical informatics context that includes relations among multiple disparate terminologies, thesauri, and ontologies.

  3. Medicinal Plants Used for Neuropsychiatric Disorders Treatment in the Hauts Bassins Region of Burkina Faso

    Directory of Open Access Journals (Sweden)

    Prosper T. Kinda

    2017-05-01

    Full Text Available Background: In Burkina Faso, phytotherapy is the main medical alternative used by populations to manage various diseases that affect the nervous system. The aim of the present study was to report medicinal plants with psychoactive properties used to treat neuropsychiatric disorders in the Hauts Bassins region, in the western zone of Burkina Faso. Methods: Through an ethnobotanical survey using structured questionnaire, 53 traditional healers (TH were interviewed about neuropsychiatric disorders, medicinal plants and medical practices used to treat them. The survey was carried out over a period of three months. Results: The results report 66 plant species used to treat neuropsychiatric pathologies. Roots (36.2% and leaves (29% were the main plant parts used. Alone or associated, these parts were used to prepare drugs using mainly the decoction and the trituration methods. Remedies were administered via drink, fumigation and external applications. Conclusions: It appears from this study a real knowledge of neuropsychiatric disorders in the traditional medicine of Hauts Bassins area. The therapeutic remedies suggested in this work are a real interest in the fight against psychiatric and neurological diseases. In the future, identified plants could be used for searching antipsychotic or neuroprotective compounds.

  4. Genetics Home Reference: X-linked adrenoleukodystrophy

    Science.gov (United States)

    ... PubMed Wanders RJ, Waterham HR. Peroxisomal disorders I: biochemistry and genetics of peroxisome biogenesis disorders. Clin Genet. ... not be used as a substitute for professional medical care or advice. Users with questions about a ...

  5. Analysis of PubMed User Sessions Using a Full-Day PubMed Query Log: A Comparison of Experienced and Nonexperienced PubMed Users

    Science.gov (United States)

    2015-01-01

    Background PubMed is the largest biomedical bibliographic information source on the Internet. PubMed has been considered one of the most important and reliable sources of up-to-date health care evidence. Previous studies examined the effects of domain expertise/knowledge on search performance using PubMed. However, very little is known about PubMed users’ knowledge of information retrieval (IR) functions and their usage in query formulation. Objective The purpose of this study was to shed light on how experienced/nonexperienced PubMed users perform their search queries by analyzing a full-day query log. Our hypotheses were that (1) experienced PubMed users who use system functions quickly retrieve relevant documents and (2) nonexperienced PubMed users who do not use them have longer search sessions than experienced users. Methods To test these hypotheses, we analyzed PubMed query log data containing nearly 3 million queries. User sessions were divided into two categories: experienced and nonexperienced. We compared experienced and nonexperienced users per number of sessions, and experienced and nonexperienced user sessions per session length, with a focus on how fast they completed their sessions. Results To test our hypotheses, we measured how successful information retrieval was (at retrieving relevant documents), represented as the decrease rates of experienced and nonexperienced users from a session length of 1 to 2, 3, 4, and 5. The decrease rate (from a session length of 1 to 2) of the experienced users was significantly larger than that of the nonexperienced groups. Conclusions Experienced PubMed users retrieve relevant documents more quickly than nonexperienced PubMed users in terms of session length. PMID:26139516

  6. Retinal nerve fiber layer thickness and neuropsychiatric manifestations in systemic lupus erythematosus.

    Science.gov (United States)

    Shulman, S; Shorer, R; Wollman, J; Dotan, G; Paran, D

    2017-11-01

    Background Cognitive impairment is frequent in systemic lupus erythematosus. Atrophy of the corpus callosum and hippocampus have been reported in patients with systemic lupus erythematosus, and diffusion tensor imaging studies have shown impaired white matter integrity, suggesting that white matter damage in systemic lupus erythematosus may underlie the cognitive impairment as well as other neuropsychiatric systemic lupus erythematosus manifestations. Retinal nerve fiber layer thickness, as assessed by optical coherence tomography, has been suggested as a biomarker for white matter damage in neurologic disorders such as multiple sclerosis, Alzheimer's disease and Parkinson's disease. Retinal nerve fiber layer thinning may occur early, even in patients with mild clinical symptoms. Aim The objective of this study was to assess the association of retinal nerve fiber layer thickness, as a biomarker of white matter damage in systemic lupus erythematosus patients, with neuropsychiatric systemic lupus erythematosus manifestations, including cognitive impairment. Methods Twenty-one consecutive patients with systemic lupus erythematosus underwent neuropsychological testing using a validated computerized battery of tests as well as the Rey-Auditory verbal learning test. All 21 patients, as well as 11 healthy, age matched controls, underwent optical coherence tomography testing to assess retinal nerve fiber layer thickness. Correlations between retinal nerve fiber layer thickness and results in eight cognitive domains assessed by the computerized battery of tests as well as the Rey-Auditory verbal learning test were assessed in patients with systemic lupus erythematosus, with and without neuropsychiatric systemic lupus erythematosus, and compared to retinal nerve fiber layer thickness in healthy controls. Results No statistically significant correlation was found between retinal nerve fiber layer thickness in patients with systemic lupus erythematosus as compared to healthy

  7. Evaluering af ordning med psykologbehandling af personer med let til moderat depression

    DEFF Research Database (Denmark)

    Fjeldsted, Rita; Christensen, Kaj Sparle

    Herværende rapport evaluerer den pr. 1.4.2008 indførte ordning med mulighed for henvisning til psykologbehandling med 60 % tilskud for patienter med let til moderat depression. Evalueringen har betjent sig af flere gensidigt supplerende metoder: spørgeskemaundersøgelser overfor patienter, psykolo......Herværende rapport evaluerer den pr. 1.4.2008 indførte ordning med mulighed for henvisning til psykologbehandling med 60 % tilskud for patienter med let til moderat depression. Evalueringen har betjent sig af flere gensidigt supplerende metoder: spørgeskemaundersøgelser overfor patienter...... tidligere evaluering af forsøgsordning af psykologbehandling af depression i perioden 2005-06. 18.419 personer i alderen 18-37 år blev henvist til psykolog i den undersøgte ordning i perioden 1.2.2009 – 31.1.2010, svarende til en henvisningshyppighed på 1,6 % af baggrundsbefolkningen i samme aldersgruppe....... Ordningen giver mulighed for én rehenvisning, og 9 % blev rehenvist i perioden. Spørgeskemaresultater viser, at kun 33 % af de henviste falder ind under henvisningskriteriet ” let til moderat depression” på tidspunktet for opstart af psykologbehandling, 39 % har ingen tegn på depression, og 28 % har svær...

  8. The role of sex and gender in neuropsychiatric disorders

    OpenAIRE

    Thibaut, Florence

    2016-01-01

    The prevalence, age of onset, and clinical symptoms of many neuropsychiatric diseases substantially differ between males and females. Factors influencing the relationships between brain development and function and sex or gender may help us understand the differences between males and females in terms of risk or resilience factors in brain diseases.

  9. The role of sex and gender in neuropsychiatric disorders.

    Science.gov (United States)

    Thibaut, Florence

    2016-12-01

    The prevalence, age of onset, and clinical symptoms of many neuropsychiatric diseases substantially differ between males and females. Factors influencing the relationships between brain development and function and sex or gender may help us understand the differences between males and females in terms of risk or resilience factors in brain diseases.

  10. Sex differences in the brain, behavior, and neuropsychiatric disorders

    NARCIS (Netherlands)

    Bao, Ai-Min; Swaab, Dick F.

    2010-01-01

    Sex differences in the brain are reflected in behavior and in the risk for neuropsychiatric disorders. The fetal brain develops in the male direction due to a direct effect of testosterone on the developing neurons, or in the female direction due to the absence of such a testosterone surge. Because

  11. Genetics Home Reference: neurofibromatosis type 1

    Science.gov (United States)

    ... in the NF1 gene are associated with Neurofibromatosis-Noonan syndrome (NFNS). Am J Med Genet A. 2003 May ... mutations represent the major molecular event underlying neurofibromatosis-Noonan syndrome. Am J Hum Genet. 2005 Dec;77(6): ...

  12. Brain "fog," inflammation and obesity : key aspects of neuropsychiatric disorders improved by luteolin

    Directory of Open Access Journals (Sweden)

    Theoharis Constantin Theoharides

    2015-07-01

    Full Text Available Brain fog is a constellation of symptoms that include reduced cognition, inability to concentrate and multitask, as well as loss of short and long term memory. Brain fog characterizes patients with autism spectrum disorders (ASDs, celiac disease, chronic fatigue syndrome, fibromyalgia, mastocytosis and postural tachycardia syndrome (POTS, as well as minimal cognitive impairment, an early clinical presentation of Alzheimer’s disease (AD, and other neuropsychiatric disorders. Brain fog may be due to inflammatory molecules, including adipocytokines and histamine released from mast cells (MCs further stimulating microglia activation, and causing focal brain inflammation. Recent reviews have described the potential use of natural flavonoids for the treatment of neuropsychiatric and neurodegenerative diseases. The flavone luteolin has numerous useful actions that include: anti-oxidant, anti-inflammatory, microglia inhibition, neuroprotection, and memory increase. A liposomal luteolin formulation in olive fruit extract improved attention in children with ASDs and brain fog in mastocytosis patients. Methylated luteolin analogues with increased activity and better bioavailability could be developed into effective treatments for neuropsychiatric disorders and brain fog.

  13. Brain "fog," inflammation and obesity: key aspects of neuropsychiatric disorders improved by luteolin.

    Science.gov (United States)

    Theoharides, Theoharis C; Stewart, Julia M; Hatziagelaki, Erifili; Kolaitis, Gerasimos

    2015-01-01

    Brain "fog" is a constellation of symptoms that include reduced cognition, inability to concentrate and multitask, as well as loss of short and long term memory. Brain "fog" characterizes patients with autism spectrum disorders (ASDs), celiac disease, chronic fatigue syndrome, fibromyalgia, mastocytosis, and postural tachycardia syndrome (POTS), as well as "minimal cognitive impairment," an early clinical presentation of Alzheimer's disease (AD), and other neuropsychiatric disorders. Brain "fog" may be due to inflammatory molecules, including adipocytokines and histamine released from mast cells (MCs) further stimulating microglia activation, and causing focal brain inflammation. Recent reviews have described the potential use of natural flavonoids for the treatment of neuropsychiatric and neurodegenerative diseases. The flavone luteolin has numerous useful actions that include: anti-oxidant, anti-inflammatory, microglia inhibition, neuroprotection, and memory increase. A liposomal luteolin formulation in olive fruit extract improved attention in children with ASDs and brain "fog" in mastocytosis patients. Methylated luteolin analogs with increased activity and better bioavailability could be developed into effective treatments for neuropsychiatric disorders and brain "fog."

  14. Sammensvorne designere med succes

    DEFF Research Database (Denmark)

    Dickson, Thomas

    2005-01-01

    Den danske tegnestue Komplot Design har for nylig oplevet den ære, at to af deres stole bliver brugt i cafeerne på det nyindrettede Museum of Modern Art i New York. Men det er ikke kun med møbler, de har succes - tegnestuen kaster sig med iver over mange slags produkter.......Den danske tegnestue Komplot Design har for nylig oplevet den ære, at to af deres stole bliver brugt i cafeerne på det nyindrettede Museum of Modern Art i New York. Men det er ikke kun med møbler, de har succes - tegnestuen kaster sig med iver over mange slags produkter....

  15. Processeringsoptimering med Canons software

    DEFF Research Database (Denmark)

    Precht, Helle

    2009-01-01

    . Muligheder i software optimering blev studeret i relation til optimal billedkvalitet og kontrol optagelser, for at undersøge om det var muligt at acceptere diagnostisk billedkvalitet og derved tage afsæt i ALARA. Metode og materialer Et kvantitativt eksperimentelt studie baseret på forsøg med teknisk og...... humant fantom. CD Rad fantom anvendes som teknisk fantom, hvor billederne blev analyseret med CD Rad software, og resultatet var en objektiv IQF værdi. Det humane fantom var et lamme pelvis med femur, der via NRPB’ er sammenlignelig med absorptionen ved et femårigt barn. De humane forsøgsbilleder blev...

  16. PubMed-EX: a web browser extension to enhance PubMed search with text mining features.

    Science.gov (United States)

    Tsai, Richard Tzong-Han; Dai, Hong-Jie; Lai, Po-Ting; Huang, Chi-Hsin

    2009-11-15

    PubMed-EX is a browser extension that marks up PubMed search results with additional text-mining information. PubMed-EX's page mark-up, which includes section categorization and gene/disease and relation mark-up, can help researchers to quickly focus on key terms and provide additional information on them. All text processing is performed server-side, freeing up user resources. PubMed-EX is freely available at http://bws.iis.sinica.edu.tw/PubMed-EX and http://iisr.cse.yzu.edu.tw:8000/PubMed-EX/.

  17. Incidence of neuropsychiatric side effects of efavirenz in HIV-positive ...

    African Journals Online (AJOL)

    2016-06-30

    Jun 30, 2016 ... HIV-positive treatment-naïve patients in public-sector ... current depression or other mental disorders would increase ... medication and the importance of adherence is discussed ..... neuropsychiatric side effects, substance abuse and emotional ... All authors contributed towards the conceptualisation and.

  18. Echolalia as a novel manifestation of neuropsychiatric systemic lupus erythematosus.

    Science.gov (United States)

    Zapor, M; Murphy, F T; Enzenauer, R

    2001-01-01

    "That tongue of yours, by which I have been tricked, shall have its power curtailed and enjoy the briefest use of speech." With these words, Hera, of Greek mythology, deprived the nymph Echo of spontaneous speech, constraining her instead to merely repeating the words of others. Echolalia, which derives from the word "echo," is disordered speech in which an individual persistently repeats what is heard. Echolalia has been described in patients with a number of neuropsychiatric illnesses including autism and Tourette's syndrome. Neuropsychiatric systemic lupus erythematosus (NPSLE) is a heterogeneous disease with protean manifestations that may occur in approximately 25% to 50% of patients with systemic lupus erythematosus (SLE). Although the most common manifestations include cognitive dysfunction (50%) and seizures (20%), NPSLE may also present as peripheral neuropathy (15%), psychosis (10%), or other central nervous system abnormalities. We report the case of a 57-year-old woman with SLE and echolalia.

  19. Behavioral, Pharmacological, and Immunological Abnormalities after Streptococcal Exposure: A Novel Rat Model of Sydenham Chorea and Related Neuropsychiatric Disorders

    Science.gov (United States)

    Brimberg, Lior; Benhar, Itai; Mascaro-Blanco, Adita; Alvarez, Kathy; Lotan, Dafna; Winter, Christine; Klein, Julia; Moses, Allon E; Somnier, Finn E; Leckman, James F; Swedo, Susan E; Cunningham, Madeleine W; Joel, Daphna

    2012-01-01

    Group A streptococcal (GAS) infections and autoimmunity are associated with the onset of a spectrum of neuropsychiatric disorders in children, with the prototypical disorder being Sydenham chorea (SC). Our aim was to develop an animal model that resembled the behavioral, pharmacological, and immunological abnormalities of SC and other streptococcal-related neuropsychiatric disorders. Male Lewis rats exposed to GAS antigen exhibited motor symptoms (impaired food manipulation and beam walking) and compulsive behavior (increased induced-grooming). These symptoms were alleviated by the D2 blocker haloperidol and the selective serotonin reuptake inhibitor paroxetine, respectively, drugs that are used to treat motor symptoms and compulsions in streptococcal-related neuropsychiatric disorders. Streptococcal exposure resulted in antibody deposition in the striatum, thalamus, and frontal cortex, and concomitant alterations in dopamine and glutamate levels in cortex and basal ganglia, consistent with the known pathophysiology of SC and related neuropsychiatric disorders. Autoantibodies (IgG) of GAS rats reacted with tubulin and caused elevated calcium/calmodulin-dependent protein kinase II signaling in SK-N-SH neuronal cells, as previously found with sera from SC and related neuropsychiatric disorders. Our new animal model translates directly to human disease and led us to discover autoantibodies targeted against dopamine D1 and D2 receptors in the rat model as well as in SC and other streptococcal-related neuropsychiatric disorders. PMID:22534626

  20. Ulykke med hækkesaks

    DEFF Research Database (Denmark)

    Leth, Peter Mygind

    1996-01-01

    Snitsår med blødning fra en overskåret pulsåre på armen forekommer hyppigt ved selvmordsforsøg, men har sjældent et dødeligt forløb. Her gives et eksempel på en isoleret partiel overklipning af a.ulnaris ved en ulykke med en hækkesaks med dødelig forløbende blødning.......Snitsår med blødning fra en overskåret pulsåre på armen forekommer hyppigt ved selvmordsforsøg, men har sjældent et dødeligt forløb. Her gives et eksempel på en isoleret partiel overklipning af a.ulnaris ved en ulykke med en hækkesaks med dødelig forløbende blødning....

  1. MED12 exon 2 mutations in phyllodes tumors of the breast

    International Nuclear Information System (INIS)

    Nagasawa, Satoi; Maeda, Ichiro; Fukuda, Takayo; Wu, Wenwen; Hayami, Ryosuke; Kojima, Yasuyuki; Tsugawa, Ko-ichiro; Ohta, Tomohiko

    2015-01-01

    Exon 2 of MED12, a subunit of the transcriptional mediator complex, has been frequently mutated in uterine leiomyomas and breast fibroadenomas; however, it has been rarely mutated in other tumors. Although the mutations were also found in uterine leiomyosarcomas, the frequency was significantly lower than in uterine leiomyomas. Here, we examined the MED12 mutation in phyllodes tumors, another biphasic tumor with epithelial and stromal components related to breast fibroadenomas. Mutations in MED12 exon 2 were analyzed in nine fibroadenomas and eleven phyllodes tumors via Sanger sequencing. A panel of cancer- and sarcoma-related genes was also analyzed using Ion Torrent next-generation sequencing. Six mutations in fibroadenomas, including those previously reported (6/9, 67%), and five mutations in phyllodes tumors (5/11, 45%) were observed. Three mutations in the phyllodes tumors were missense mutations at Gly44, which is common in uterine leiomyomas and breast fibroadenomas. In addition, two deletion mutations (in-frame c.133-144del12 and loss of splice acceptor c.100-68-137del106) were observed in the phyllodes tumors. No other recurrent mutation was observed with next-generation sequencing. Frequent mutations in MED12 exon 2 in the phyllodes tumors suggest that it may share genetic etiology with uterine leiomyoma, a subgroup of uterine leiomyosarcomas and breast fibroadenoma

  2. The association of neuropsychiatric symptoms and environment with quality of life in assisted living residents with dementia.

    Science.gov (United States)

    Samus, Quincy M; Rosenblatt, Adam; Steele, Cynthia; Baker, Alva; Harper, Michael; Brandt, Jason; Mayer, Lawrence; Rabins, Peter V; Lyketsos, Constantine G

    2005-10-01

    We conducted this study to determine whether neuropsychiatric symptoms and environmental characteristics are associated with quality of life in assisted living residents with dementia. We used a cross-sectional study of 134 residents from 22 facilities and employed the Alzheimer's Disease-Related Quality of Life Scale and the Neuropsychiatric Inventory. A scale was developed to capture the homelike climate of each facility. Linear regression analyses were used to estimate the relationship of neuropsychiatric symptoms and homelike climate with quality of life, controlling for sociodemographics, cognition, functional dependence, and physical health. Exploratory analyses and graphical techniques were employed to test for environmental-level moderating effects. Agitation, depression, apathy, and irritability were significant predictors of quality of life, explaining 29% of the variance. Neither facility size nor homelike environment was significantly associated with quality of life in univariate analyses. Size of facility moderated the relationship between agitation and quality of life. Neuropsychiatric symptoms impair quality of life in residents with dementia. Further research should investigate the role of other environmental aspects.

  3. Cell cultures in uterine leiomyomas: rapid disappearance of cells carrying MED12 mutations.

    Science.gov (United States)

    Nadine Markowski, Dominique; Tadayyon, Mahboobeh; Bartnitzke, Sabine; Belge, Gazanfer; Maria Helmke, Burkhard; Bullerdiek, Jörn

    2014-04-01

    Uterine leiomyomas (UL) are the most frequent symptomatic human tumors. Nevertheless, their molecular pathogenesis is not yet fully understood. To learn more about the biology of these common neoplasms and their response to treatment, cell cultures derived from UL are a frequently used model system, but until recently appropriate genetic markers confirming their origin from the tumor cell population were lacking for most UL, i.e., those not displaying karyotypic abnormalities. The identification of MED12 mutations in the majority of UL makes it possible to trace the tumor cell population during in vitro passaging in the absence of cytogenetic abnormalities. The present study is addressing the in vitro survival of cells carrying MED12 mutations and its association with karyotypic alterations. The results challenge numerous in vitro studies into the biology and behavior of leiomyomas. Cells of one genetic subtype of UL, i.e., those with rearrangements of the high mobility AT-hook 2 protein gene (HMGA2), seem to be able to proliferate in vitro for many passages whereas tumor cells from the much more frequent MED12-mutated lesions barely survive even the first passages. Apparently, for the most frequent type of human UL no good in vitro model seems to exist because cells do not survive culturing. On the other hand, this inability may point to an Achilles' heel of this type of UL. Copyright © 2014 Wiley Periodicals, Inc.

  4. Disturbed amino acid metabolism in HIV: association with neuropsychiatric symptoms

    Directory of Open Access Journals (Sweden)

    Johanna M Gostner

    2015-07-01

    Full Text Available Blood levels of the amino acid phenylalanine, as well as of the tryptophan breakdown product kynurenine, are found to be elevated in human immunodeficiency virus type 1 (HIV-1-infected patients. Both essential amino acids, tryptophan and phenylalanine are important precursor molecules for neurotransmitter biosynthesis. Thus, dysregulated amino acid metabolism may be related to disease-associated neuropsychiatric symptoms such as development of depression, fatigue, and cognitive impairment.Increased phenylalanine/tyrosine and kynurenine/tryptophan ratios are associated with immune activation in patients with HIV-1 infection and decrease upon effective antiretroviral therapy. Recent large-scale metabolic studies have confirmed the crucial involvement of tryptophan and phenylalanine metabolism in HIV-associated disease. Herein, we summarize the current status of the role of tryptophan and phenylalanine metabolism in HIV disease and discuss how inflammatory stress-associated dysregulation of amino acid metabolism may be part of the pathophysiology of common HIV-associated neuropsychiatric conditions.

  5. Relevansen af nyere psykodynamisk teori for det klinisk musikterapeutiske arbejde med psykiatriske patienter med personlighedsforstyrrelser

    DEFF Research Database (Denmark)

    Hannibal, Niels

    2007-01-01

    Denne artikel beskriver et rationale for anvendelse af musik i en psykoterapeutisk kontekst. Det eksplicitte og implicitte forandringsniveau i psykoterapi med patienter med borderline-personlighedsforstyrrelse (BPF) diskuteres herpå med henvisning til to forskellige syn på terapeutisk forandring:...

  6. Gruppemusikterapi med patienter med borderline-personlighedsforstyrrelse i dagbehandlingsregi

    Directory of Open Access Journals (Sweden)

    Niels Hannibal

    2008-05-01

    Full Text Available Denne artikel er første redegørelse for de erfaringer, som er gjort med gruppemusikterapi (GMT for patienter med borderline-personlighedsforstyrrelse (BPF i dagbehandlingsregi på Aalborg Psykiatriske Sygehus. Artiklen indeholder både konkrete anvisninger til aktiviteter og interventioner, ligesom den i et teoretisk perspektiv redegør for forskellige processer og reaktioner, der kan iagttages i behandlingen. Artiklen konkluderer, at GMT i sin nuværende form kan bidrage til udvikling af BPF-patienters evne til mentalisering og affektregulering, til opbygning af en gruppefølelse og fremme af interpersonel læring, ligesom GMT kan udvikle alliance til terapi generelt og GMT specifikt.

  7. Traumatic brain injury–Modeling neuropsychiatric symptoms in rodents

    Directory of Open Access Journals (Sweden)

    Oz eMalkesman

    2013-10-01

    Full Text Available Each year in the United States, approximately 1.5 million people sustain a traumatic brain injury (TBI. Victims of TBI can suffer from chronic post-TBI symptoms, such as sensory and motor deficits, cognitive impairments including problems with memory, learning, and attention, and neuropsychiatric symptoms such as depression, anxiety, irritability, aggression, and suicidal rumination. Although partially associated with the site and severity of injury, the biological mechanisms associated with many of these symptoms—and why some patients experience differing assortments of persistent maladies—are largely unknown. The use of animal models is a promising strategy for elucidation of the mechanisms of impairment and treatment, and learning, memory, sensory and motor tests have widespread utility in rodent models of TBI and psychopharmacology. Comparatively, behavioral tests for the evaluation of neuropsychiatric symptomatology are rarely employed in animal models of TBI and, as determined in this review, the results have been inconsistent. Animal behavioral studies contribute to the understanding of the biological mechanisms by which TBI is associated with neurobehavioral symptoms and offer a powerful means for pre-clinical treatment validation. Therefore, further exploration of the utility of animal behavioral tests for the study of injury mechanisms and therapeutic strategies for the alleviation of emotional symptoms are relevant and essential.

  8. MED23-associated Intellectual Disability in a Non-consanguineous Family

    OpenAIRE

    Trehan, Aditi; Brady, Jacqueline M.; Maduro, Valerie; Bone, William; Huang, Yan; Golas, Gretchen A.; Kane, Megan; Lee, Paul R.; Thurm, Audrey; Gropman, Andrea L.; Paul, Scott M.; Vezina, Gilbert; Markello, Thomas C.; Gahl, William A.; Boerkoel, Cornelius F.

    2015-01-01

    Intellectual disability (ID) is a heterogeneous condition arising from a variety of environmental and genetic factors. Among these causes are defects in transcriptional regulators. Herein, we report two brothers in a non-consanguineous family with novel compound heterozygous, disease-segregating mutations (NM_015979.3: [3656A>G];[4006C>T], NP_057063.2: [H1219R];[R1336X]) in MED23. This gene encodes a subunit of the Mediator complex that modulates the expression of RNA polymerase II-dependent ...

  9. MedPAC Data Book

    Data.gov (United States)

    U.S. Department of Health & Human Services — MedPACs Data Book is the result of discussions with congressional staff members regarding ways that MedPAC can better support them. Some of the information it...

  10. Artesunate-mefloquine combination therapy in acute Plasmodium falciparum malaria in young children: a field study regarding neurological and neuropsychiatric safety.

    Science.gov (United States)

    Frey, Sarabel G; Chelo, David; Kinkela, Mina N; Djoukoue, Florence; Tietche, Felix; Hatz, Christoph; Weber, Peter

    2010-10-21

    Mefloquine-artesunate combination therapy for uncomplicated falciparum malaria is one of the treatments used in African children. Data concerning neurological safety in adults and children treated with mefloquine and artesunate combination therapy is well documented in Asia. Safety data for neurological and neuropsychiatric side effects of mefloquine and artesunate combination therapy in African children are scarce, although WHO recommends this therapy in Africa. A phase IV, open label, single arm study was conducted among African children between 10 and 20 kg with acute uncomplicated falciparum malaria. They were treated over three consecutive days with a paediatric fixed-dose combination of artesunate (50 mg/d) and mefloquine (125 mg/d). Parasitological, clinical and neurological examinations and standardized questions about neuropsychiatric symptoms were carried out on days 0, 4, 7, 28 and 63. The primary objective was to assess the neurological and neuropsychiatric safety of artesunate-mefloquine combination therapy in young children. From December 2007 to March 2009, 220 children with uncomplicated Plasmodium falciparum malaria were treated with artesunate and mefloquine. 213 children were analysed according to study protocol. 50 neurological and neuropsychiatric adverse events occurred in 28 patients. Eleven drug-related neurological and neuropsychiatric adverse events occurred in eight patients. Sleeping disorders were present in 2.3%, neurological disorders in 1.4%, neuropsychiatric disorders in 1% and eating disorders in 0.5% of the patients. Adverse events were of mild to moderate intensity and resolved spontaneously. African children showed a low percentage of self-limited neurological and neuropsychiatric adverse events, confirming studies on neurological safety in Asian children treated with artesunate and mefloquine. Sleeping disorders were most frequently observed.

  11. Neuropsychiatric symptoms and quality of life in patients in the final phase of dementia.

    Science.gov (United States)

    Koopmans, Raymond T C M; van der Molen, Marloes; Raats, Monique; Ettema, Teake P

    2009-01-01

    To assess neuropsychiatric symptoms and quality of life in a group of patients in the final phase of dementia. All patients with dementia (n = 216) residing on dementia special care units of two Dutch nursing homes were included in the study provided they met the criteria for the final phase of dementia. Neuropsychiatric symptoms were assessed with the Neuropsychiatric Inventory Nursing Home version (NPI-NH) and the Cohen Mansfield Agitation Inventory (CMAI). Quality of life was assessed with the QUALIDEM. Of the 216 dementia patients 39 met the criteria for the final phase of dementia. The patients showed a specific pattern of behaviours with a high prevalence of apathy, agitation and behaviours that were mainly observed during morning care such as making strange noises, grabbing, performing repetitious mannerism, spitting, hitting, screaming and pushing. Overall quality of life of these patients in the final phase of dementia was moderate. In this small sample, patients in the final phase of dementia show specific behavioural problems, that mainly should be addressed with psychosocial interventions. (c) 2008 John Wiley & Sons, Ltd.

  12. Leg med vision

    DEFF Research Database (Denmark)

    Munk, Mette; Bertelsen, Katrine

    2011-01-01

    Bogen henvender sig primært til det pædagogiske personale med målgruppen daginstitutioner. Bogen skal stimulere arbejdet med at gøre bevægelse til en integreret del af kulturen i daginstitutioner - at få det pædagogiske personale til - at sætte ord på og spørgsmålstegn ved deres pædagogiske bevæg...

  13. Lærere arbejder med landskabsdannelse

    DEFF Research Database (Denmark)

    2012-01-01

    Valg af materiale/medie/form: YOUtube videoklip. Valg af arbejdsform: Lærere der er igang med at afprøve praktisk undersøgende arbejde med danske landskabsformer. Begrundelse for valg af materiale/medie/form/arbejdsform: Ultrakort videoklip valgt så 1) lærerne kan dele med kolleger, 2) øvrige...

  14. Genetics Home Reference: 1q21.1 microdeletion

    Science.gov (United States)

    ... reciprocal 1q21.1 deletions and duplications associated with microcephaly or macrocephaly and developmental and behavioral abnormalities. Nat Genet. 2008 Dec;40(12):1466-71. doi: 10.1038/ng.279. Citation on PubMed or Free article on PubMed Central Haldeman-Englert CR, Jewett T. ...

  15. Med Kingo på dybt vand

    DEFF Research Database (Denmark)

    Arndal, Lars Stubbe

    2014-01-01

    Tag med digteren Thomas Kingo ud på dybt vand i selskab med lektor og mag.art. Lars Arndal, der kaster nye perspektiver på Kingos forlisdigt Hierte-Suk. Arndal kommer hermed også med et bud på, hvordan man som lærer kan invitere eleverne med på opdagelse i digtet...

  16. Mutational analysis of the Wolfram syndrome gene in two families with chromosome 4p-linked bipolar affective disorder.

    Science.gov (United States)

    Evans, K L; Lawson, D; Meitinger, T; Blackwood, D H; Porteous, D J

    2000-04-03

    Bipolar affective disorder (BPAD) is a complex disease with a significant genetic component. Heterozygous carriers of Wolfram syndrome (WFS) are at increased risk of psychiatric illness. A gene for WFS (WFS1) has recently been cloned and mapped to chromosome 4p, in the general region we previously reported as showing linkage to BPAD. Here we present sequence analysis of the WFS1 coding sequence in five affected individuals from two chromosome 4p-linked families. This resulted in the identification of six polymorphisms, two of which are predicted to change the amino acid sequence of the WFS1 protein, however none of the changes segregated with disease status. Am. J. Med. Genet. (Neuropsychiatr. Genet.) 96:158-160, 2000. Copyright 2000 Wiley-Liss, Inc.

  17. Stroke with neuropsychiatric sequelae after cannabis use in a man: a case report

    Directory of Open Access Journals (Sweden)

    Giroud Maurice

    2011-06-01

    Full Text Available Abstract Introduction The outcome of cerebral ischemic stroke associated with cannabis use is usually favorable. Here we report the first case of cannabis-related stroke followed by neuropsychiatric sequelae. Case presentation A 24-year-old Caucasian man was discovered in a deeply comatose non-reactive state after cannabis use. A magnetic resonance imaging scan of his brain showed bilateral multiple ischemic infarcts. The patient remained deeply comatose for four days, after which time he developed other behavioral impairments and recurrent seizures. Conclusion Stroke related to cannabis use can be followed by severe neuropsychiatric sequelae. Concomitant alcohol intoxication is essential neither to the occurrence of this neurologic event nor to its severity.

  18. A Comprehensive Rehabilitation Approach in a Patient With Serious Neuropsychiatric Systemic Lupus Erythematosus.

    Science.gov (United States)

    Ko, Yong Jae; Lee, Yang Gyun; Park, Ji Woong; Ahn, Sung Ho; Kwak, Jin Myoung; Choi, Yoon-Hee

    2016-08-01

    Neuropsychiatric systemic lupus erythematosus (NPSLE) involves the central and peripheral nervous system in patients with systemic lupus erythematosus (SLE). It is essential to specify the problems faced by patients with NPSLE because it causes diverse disabilities and impairs quality of life. After performing a comprehensive evaluation, tailored management should be provided for the patient's specific problems. We report here the case of a 30-year-old female with SLE who experienced serious neuropsychiatric symptoms cerebral infarction followed by posterior reversible encephalopathy syndrome and peripheral polyneuropathy. We systemically assessed the patient using the International Classification of Functioning, Disability and Health model as a clinical problem-solving tool and provided comprehensive rehabilitation by focusing on her problems.

  19. Immature Dentate Gyrus: An Endophenotype of Neuropsychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Hideo Hagihara

    2013-01-01

    Full Text Available Adequate maturation of neurons and their integration into the hippocampal circuit is crucial for normal cognitive function and emotional behavior, and disruption of this process could cause disturbances in mental health. Previous reports have shown that mice heterozygous for a null mutation in α-CaMKII, which encodes a key synaptic plasticity molecule, display abnormal behaviors related to schizophrenia and other psychiatric disorders. In these mutants, almost all neurons in the dentate gyrus are arrested at a pseudoimmature state at the molecular and electrophysiological levels, a phenomenon defined as “immature dentate gyrus (iDG.” To date, the iDG phenotype and shared behavioral abnormalities (including working memory deficit and hyperlocomotor activity have been discovered in Schnurri-2 knockout, mutant SNAP-25 knock-in, and forebrain-specific calcineurin knockout mice. In addition, both chronic fluoxetine treatment and pilocarpine-induced seizures reverse the neuronal maturation, resulting in the iDG phenotype in wild-type mice. Importantly, an iDG-like phenomenon was observed in post-mortem analysis of brains from patients with schizophrenia/bipolar disorder. Based on these observations, we proposed that the iDG is a potential endophenotype shared by certain types of neuropsychiatric disorders. This review summarizes recent data describing this phenotype and discusses the data’s potential implication in elucidating the pathophysiology of neuropsychiatric disorders.

  20. Severity of Neuropsychiatric Symptoms in Nursing Home Residents

    Directory of Open Access Journals (Sweden)

    Anne-Sofie Helvik

    2016-01-01

    Full Text Available We aimed at assessing time shift in the severity of neuropsychiatric symptoms (NPS in nursing home residents between 2004/2005 and 2010/2011 and associations between NPS and socio-demographic variables, physical health status, dementia severity, and the use of psychotropic drugs. The Neuropsychiatric Inventory Nursing Home Version was used in 2004/2005 (n = 1,163 and 2010/2011 (n = 1,858. Linear mixed model analysis was applied. There was no time shift in the severity of apathy, psychosis, and affective symptoms, but agitation did exhibit a time shift. Agitation was less severe in 2010/2011 than in 2004/2005 in residents with a Clinical Dementia Rating (CDR sum of boxes score ≤4, and more severe in residents with a CDR sum of boxes score >16. Higher CDR sum of boxes scores and use of psychotropic medication were associated with more severe apathy, agitation, psychosis, and affective symptoms. Poor physical health was associated with more severe apathy, psychosis, and affective symptoms. Women had more severe agitation and less severe affective symptoms than men. A longer stay in a nursing home was associated with more severe agitation and less severe affective symptoms. In conclusion, agitation was less severe in 2010/2011 than in 2004/2005 among nursing home residents with a milder degree of dementia, and more severe in residents with severe dementia.

  1. Neuropsychiatric symptoms predict hypometabolism in preclinical Alzheimer disease.

    Science.gov (United States)

    Ng, Kok Pin; Pascoal, Tharick A; Mathotaarachchi, Sulantha; Chung, Chang-Oh; Benedet, Andréa L; Shin, Monica; Kang, Min Su; Li, Xiaofeng; Ba, Maowen; Kandiah, Nagaendran; Rosa-Neto, Pedro; Gauthier, Serge

    2017-05-09

    To identify regional brain metabolic dysfunctions associated with neuropsychiatric symptoms (NPS) in preclinical Alzheimer disease (AD). We stratified 115 cognitively normal individuals into preclinical AD (both amyloid and tau pathologies present), asymptomatic at risk for AD (either amyloid or tau pathology present), or healthy controls (no amyloid or tau pathology present) using [ 18 F]florbetapir PET and CSF phosphorylated tau biomarkers. Regression and voxel-based regression models evaluated the relationships between baseline NPS measured by the Neuropsychiatric Inventory (NPI) and baseline and 2-year change in metabolism measured by [ 18 F]fluorodeoxyglucose (FDG) PET. Individuals with preclinical AD with higher NPI scores had higher [ 18 F]FDG uptake in the posterior cingulate cortex (PCC), ventromedial prefrontal cortex, and right anterior insula at baseline. High NPI scores predicted subsequent hypometabolism in the PCC over 2 years only in individuals with preclinical AD. Sleep/nighttime behavior disorders and irritability and lability were the components of the NPI that drove this metabolic dysfunction. The magnitude of NPS in preclinical cases, driven by sleep behavior and irritability domains, is linked to transitory metabolic dysfunctions within limbic networks vulnerable to the AD process and predicts subsequent PCC hypometabolism. These findings support an emerging conceptual framework in which NPS constitute an early clinical manifestation of AD pathophysiology. Copyright © 2017 The Author(s). Published by Wolters Kluwer Health, Inc. on behalf of the American Academy of Neurology.

  2. Is anorexia nervosa a neuropsychiatric developmental disorder? An illustrative case report

    NARCIS (Netherlands)

    Kerbeshian, Jacob; Burd, Larry

    2009-01-01

    We propose the concept that anorexia nervosa is a neuropsychiatric developmental disorder. In support of the concept we present a case report of a 12-year-old girl with high functioning autistic disorder who developed Tourette syndrome and obsessive-compulsive disorder. She subsequently experienced

  3. Electroconvulsive therapy in the treatment of neuropsychiatric conditions and transcranial magnetic stimulation as a pathophysiological probe in neuropsychiatry.

    Science.gov (United States)

    McDonald, W M; Greenberg, B D

    2000-01-01

    It is a challenging task to review transcranial magnetic stimulation (TMS) studies in neuropsychiatric disorders alongside assessments of longstanding clinical applications of ECT as an empirical treatment. The task is challenging because TMS was developed as a probe of neural mechanisms, whereas, in marked contrast, ECT has been a clinical technique from its inception. Since the onset of modern psychopharmacology, the understanding of the potential applications of ECT to neuropsychiatric disorders is generally restricted to case reports of patients with intractable disease that have had at least a partial response to ECT. Studies of the possible efficacy of TMS in neuropsychiatric conditions have a significant advantage over ECT as the treatments are associated with less morbidity. The only serious known complication in TMS is a risk of seizures that may increase in patients with neuropsychiatric conditions such as course brain disease. Only cortical structures are themselves accessible to TMS using current technology. Present TMS techniques, however, seem capable of affecting activity in deeper brain structures that are functionally linked to cortical brain regions. TMS permits novel explorations of relationships between regional brain activity and symptoms of a number of neuropsychiatric disorders, as well as in research relating activity in functionally related brain regions to modulation of cognition and affective states in healthy individuals. This is particularly true at present because TMS and powerful neuroimaging and neuropsychological tools are all making rapid advances simultaneously.

  4. Circulating microRNAs as a Novel Class of Potential Diagnostic Biomarkers in Neuropsychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Kichukova Tatyana M.

    2015-12-01

    Full Text Available Neuropsychiatric diseases, such as schizophrenia, bipolar disorder (BD, major depressive disorder (MDD and autism spectrum disorder (ASD, are a huge burden on society, impairing the health of those affected, as well as their ability to learn and work. Biomarkers that reflect the dysregulations linked to neuropsychiatric diseases may potentially assist the diagnosis of these disorders. Most of these biomarkers are found in the brain tissue, which is not easily accessible. This is the challenge for the search of novel biomarkers that are present in various body fluids, including serum or plasma. As a group of important endogenous small noncoding RNAs that regulate gene expression at post-transcriptional level, microRNAs (miRNAs play a crucial role in many physiological and pathological processes. Previously, researchers discovered that miRNAs contribute to the neurodevelopment and maturation, including neurite outgrowth, dendritogenesis and dendritic spine formation. These developments underline the significance of miRNAs as potential biomarkers for diagnosing and prognosing central nervous system diseases. Accumulated evidence indicates that there are considerable differences between the cell-free miRNA expression profiles of healthy subjects and those of patients. Therefore, circulating miRNAs are likely to become a new class of noninvasive, sensitive biomarkers. Despite the fact that little is known about the origin and functions of circulating miRNAs, their essential roles in the clinical diagnosis and prognosis of neuropsychiatric diseases make them attractive biomarkers. In this review we cover the increasing amounts of dataset that have accumulated in the last years on the use of circulating miRNAs and their values as potential biomarkers in most areas of neuropsychiatric diseases.

  5. Genetics Home Reference: piebaldism

    Science.gov (United States)

    ... be a feature of other conditions, such as Waardenburg syndrome ; these conditions have other genetic causes and additional ... 140S. Review. Citation on PubMed Spritz RA. Piebaldism, Waardenburg syndrome, and related disorders of melanocyte development. Semin Cutan ...

  6. Psychopathology in 7-year-old children: Differences in maternal and paternal ratings and the genetic epidemiology.

    Science.gov (United States)

    Wesseldijk, Laura W; Fedko, Iryna O; Bartels, Meike; Nivard, Michel G; van Beijsterveldt, Catharina E M; Boomsma, Dorret I; Middeldorp, Christel M

    2017-04-01

    The assessment of children's psychopathology is often based on parental report. Earlier studies have suggested that rater bias can affect the estimates of genetic, shared environmental and unique environmental influences on differences between children. The availability of a large dataset of maternal as well as paternal ratings of psychopathology in 7-year old children enabled (i) the analysis of informant effects on these assessments, and (ii) to obtain more reliable estimates of the genetic and non-genetic effects. DSM-oriented measures of affective, anxiety, somatic, attention-deficit/hyperactivity, oppositional-defiant, conduct, and obsessive-compulsive problems were rated for 12,310 twin pairs from the Netherlands Twin Register by mothers (N = 12,085) and fathers (N = 8,516). The effects of genetic and non-genetic effects were estimated on the common and rater-specific variance. For all scales, mean scores on maternal ratings exceeded paternal ratings. Parents largely agreed on the ranking of their child's problems (r 0.60-0.75). The heritability was estimated over 55% for maternal and paternal ratings for all scales, except for conduct problems (44-46%). Unbiased shared environmental influences, i.e., on the common variance, were significant for affective (13%), oppositional (13%), and conduct problems (37%). In clinical settings, different cutoffs for (sub)clinical scores could be applied to paternal and maternal ratings of their child's psychopathology. Only for conduct problems, shared environmental and genetic influences explain an equal amount in differences between children. For the other scales, genetic factors explain the majority of the variance, especially for the common part that is free of rater bias. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley Periodicals, Inc. © 2016 The Authors. American Journal of Medical Genetics Part B: Neuropsychiatric Genetics Published by Wiley

  7. Yrkesforberedelse eller fagopplæring med fagbrev? Med design og håndverk som kontekst

    Directory of Open Access Journals (Sweden)

    Bjørn Magne Aakre

    2013-09-01

    Full Text Available Artikkelen drøfter forholdet mellom yrkesforberedelse og fagopplæring med utgangspunkt i den kombinerte studieretningen formgivingsfag som ble innført i Norge i 1994. I 2006 ble den delt i et programfag under studiespesialiserende fag, og et nytt yrkesfaglig program med betegnelse design og håndverk. Hvilke interesser lå til grunn for endringene, hvor dyptgripende ble de og hvilke overveieleser kan en gjøre i ettertid om forholdet mellom yrkesforberedelse og fagopplæring? Artikkelen søker å svare på spørsmålene ut fra relevante dokumenter og to kvantitative undersøkelser med elever og lærere som informanter. Artikkelen konkluderer med at innholdet forble nokså likt, antall elever ble halvert og at frafallet økte. Det konkluderes videre med at mange forhold bidrar til å legitimere et fag og dets innhold som henholdsvis skolefag, vitenskapsfag eller yrkesfag. Legitimeringen preges ofte av motstridende motiver og interesser, og sjelden bare faglige begrunnelser.

  8. Redox regulation of the MED28 and MED32 mediator subunits is important for development and senescence.

    Science.gov (United States)

    Shaikhali, Jehad; Davoine, Céline; Björklund, Stefan; Wingsle, Gunnar

    2016-05-01

    Mediator is a conserved multi-protein complex that acts as a bridge between promoter-bound transcriptional regulators and RNA polymerase II. While redox signaling is important in adjusting plant metabolism and development, the involvement of Mediator in redox homeostasis and regulation only recently started to emerge. Our previous results show that the MED10a, MED28, and MED32 Mediator subunits form various types of covalent oligomers linked by intermolecular disulfide bonds in vitro. To link that with biological significance we have characterized Arabidopsis med32 and med28 mutants and found that they are affected in root development and senescence, phenotypes possibly associated to redox changes.

  9. DailyMed

    Data.gov (United States)

    U.S. Department of Health & Human Services — DailyMed provides high quality information about marketed drugs. This information includes FDA labels (package inserts). This Web site provides health information...

  10. Neuropsychiatric symptoms and celiac disease.

    Science.gov (United States)

    Urban-Kowalczyk, Małgorzata; OEmigielski, Janusz; Gmitrowicz, Agnieszka

    2014-01-01

    Neuropsychiatric symptoms may represent an atypical manifestation of celiac disease that occur before a gastroenterological diagnosis is made. Some studies suggest that a gluten-free diet is effective in treating the depression, anxiety, and neurological complications associated with celiac disease. The article describes the case of a patient suffering from chronic, treatment-resistant symptoms of depression and anxiety. The diagnosis of celiac disease and introduction of an elimination diet caused a significant improvement in mental state and everyday functioning in the presenting patient. The presence of persistent anxiety and depressive symptoms, with a poor reaction to pharmacological treatment, indicates a need to identify somatic reasons for the underlying condition. It is important to remember that celiac disease can occur at any age, not only in childhood. The presence of this somatic cause of persistent depressive and anxiety symptoms should be considered in the diagnostic process in adults.

  11. MANUAL FOR PROCESORIENTERET MUSIKTERAPI MED PERSONER MED BPD.

    Directory of Open Access Journals (Sweden)

    Niels Hannibal

    2010-12-01

    Full Text Available Denne artikel introducerer et musikterapeutisk behandlingskoncept kaldet: Procesorienteret Musikterapi (PROM. PROM er et forsøg på at formulere en principiel ramme for musikterapi i psykiatrien, som dels tager udgangspunkt i 17 års klinisk erfaring, dels stiler mod at være ”best practice”. PROM indeholder beskrivelser af manualens unikke, essentielle men ikke unikke, acceptable og ikke acceptable dele. Den unikke del af PROM skal kunne implementeres til alle målgrupper, mens de øvrige dele af manualen rettes til i forhold til en specifik målgruppe. Denne udgave af PROM er specifikt rettet i mod musikterapi for patienter med personlighedsforstyrrelser. Manualen indgår også som en del af et pilotprojekt, der har til formål at udvikle en protokol for et internationalt RCT projekt med samme målgruppe

  12. Sociale indsatser til mennesker med ADHD

    DEFF Research Database (Denmark)

    Bengtsson, Steen; Alim, Winnie; Holmskov, Henriette

    Igennem de seneste år har flere og flere fået stillet diagnosen ADHD, som er en adfærdsmæssig forstyrrelse. Mennesker med ADHD har meget forskelligt støttebehov, og rapportens formål er at skabe overblik over de eksisterende sociale indsatser og tilbud til børn, unge og voksne med ADHD. Langt de...... ansvar for sociale end for terapeutiske tilbud i forhold til gruppen med ADHD. Mange voksne med ADHD beskriver, at det kræver mange ressourcer at få den fornødne støtte fra kommunen, mens forældre til børn med ADHD oplever det som nemmere at få adgang til de rette støttetilbud. Men begge grupper møder...... mange udfordringer som fx manglende koordinering og hyppige sagsbehandlerskift. Rapporten er udarbejdet i tilknytning til Servicestyrelsens projekt ’Ny og forstærket indsats til børn, unge og voksne med ADHD’ og er finansieret af Socialministeriet....

  13. Genetics Home Reference: Danon disease

    Science.gov (United States)

    ... are compartments in the cell that digest and recycle materials. The role the LAMP-2 protein plays ... Page Boucek D, Jirikowic J, Taylor M. Natural history of Danon disease. Genet Med. 2011 Jun;13( ...

  14. Inferring gene and protein interactions using PubMed citations and consensus Bayesian networks.

    Science.gov (United States)

    Deeter, Anthony; Dalman, Mark; Haddad, Joseph; Duan, Zhong-Hui

    2017-01-01

    The PubMed database offers an extensive set of publication data that can be useful, yet inherently complex to use without automated computational techniques. Data repositories such as the Genomic Data Commons (GDC) and the Gene Expression Omnibus (GEO) offer experimental data storage and retrieval as well as curated gene expression profiles. Genetic interaction databases, including Reactome and Ingenuity Pathway Analysis, offer pathway and experiment data analysis using data curated from these publications and data repositories. We have created a method to generate and analyze consensus networks, inferring potential gene interactions, using large numbers of Bayesian networks generated by data mining publications in the PubMed database. Through the concept of network resolution, these consensus networks can be tailored to represent possible genetic interactions. We designed a set of experiments to confirm that our method is stable across variation in both sample and topological input sizes. Using gene product interactions from the KEGG pathway database and data mining PubMed publication abstracts, we verify that regardless of the network resolution or the inferred consensus network, our method is capable of inferring meaningful gene interactions through consensus Bayesian network generation with multiple, randomized topological orderings. Our method can not only confirm the existence of currently accepted interactions, but has the potential to hypothesize new ones as well. We show our method confirms the existence of known gene interactions such as JAK-STAT-PI3K-AKT-mTOR, infers novel gene interactions such as RAS- Bcl-2 and RAS-AKT, and found significant pathway-pathway interactions between the JAK-STAT signaling and Cardiac Muscle Contraction KEGG pathways.

  15. PubMed

    Data.gov (United States)

    U.S. Department of Health & Human Services — PubMed comprises more than 26 million citations for biomedical literature from MEDLINE, life science journals, and online books. Citations may include links to...

  16. PubMed

    CERN Document Server

    PubMed is the National Library of Medicine's search service that provides access to over 10 million citations in MEDLINE, PreMEDLINE, and other related databases, with links to participating online journals.

  17. Genetics Home Reference: Jackson-Weiss syndrome

    Science.gov (United States)

    ... Jabs EW, Li X, Scott AF, Meyers G, Chen W, Eccles M, Mao JI, Charnas LR, Jackson CE, Jaye M. Jackson-Weiss and Crouzon syndromes are allelic with mutations in fibroblast growth factor receptor 2. Nat Genet. 1994 Nov;8(3):275-9. Erratum in: Nat Genet 1995 Apr;9(4):451. Citation on PubMed Robin ...

  18. Praktische handleiding PubMed : hét boek om snel en doeltreffend te zoeken in PubMed

    NARCIS (Netherlands)

    Etten-Jamaludin, van F.; Deurenberg, H.W.J.

    2010-01-01

    Praktische handleidng PubMed is de eerste Nederlandstalige gids die op overzichtelijke wijze op de uitgebreide mogelijkheden van PubMed ingaat. PubMed (www.pubmed.gov) biedt gratis toegang tot MEDLINE en is de meest gebruikte medische zoekmachine. In deze geheel herziene derde editie van Praktisch

  19. The neuropsychiatric aspects of influenza/swine flu: A selective review

    Directory of Open Access Journals (Sweden)

    Narayana Manjunatha

    2011-01-01

    Full Text Available The world witnessed the influenza virus during the seasonal epidemics and pandemics. The current strain of H1N1 (swine flu pandemic is believed to be the legacy of the influenza pandemic (1918-19. The influenza virus has been implicated in many neuropsychiatric disorders. In view of the recent pandemic, it would be interesting to review the neuropsychiatric aspects of influenza, specifically swine flu. Author used popular search engine ′PUBMED′ to search for published articles with different MeSH terms using Boolean operator (AND. Among these, a selective review of the published literature was done. Acute manifestations of swine flu varied from behavioral changes, fear of misdiagnosis during outbreak, neurological features like seizures, encephalopathy, encephalitis, transverse myelitis, aseptic meningitis, multiple sclerosis, and Guillian-Barre Syndrome. Among the chronic manifestations, schizophrenia, Parkinson′s disease, mood disorder, dementia, and mental retardation have been hypothesized. Further research is required to understand the etiological hypothesis of the chronic manifestations of influenza. The author urges neuroscientists around the world to make use of the current swine flu pandemic as an opportunity for further research.

  20. Genetics Home Reference: Miller syndrome

    Science.gov (United States)

    ... Sangiorgi E, Neri G. Limb anomalies: Developmental and evolutionary aspects. Am J Med Genet. 2002 Dec 30; ... genome editing and CRISPR-Cas9? What is precision medicine? What is newborn screening? New Pages Alopecia areata ...

  1. Genetics Home Reference: thanatophoric dysplasia

    Science.gov (United States)

    ... thanatophoric dysplasia and their potential therapeutic implications for achondroplasia. Am J Med Genet A. 2010 Jan;152A( ... of fibroblast growth factor receptor 3 disorders: the achondroplasia family of skeletal dysplasias, Muenke craniosynostosis, and Crouzon ...

  2. Genetics Home Reference: familial erythrocytosis

    Science.gov (United States)

    ... tumors. Another form of acquired erythrocytosis, called polycythemia vera , results from somatic (non-inherited) mutations in other ... haematol.13250. Citation on PubMed Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and ...

  3. Towards PubMed 2.0.

    Science.gov (United States)

    Fiorini, Nicolas; Lipman, David J; Lu, Zhiyong

    2017-10-30

    Staff from the National Center for Biotechnology Information in the US describe recent improvements to the PubMed search engine and outline plans for the future, including a new experimental site called PubMed Labs.

  4. Endostatin (EntreMed).

    Science.gov (United States)

    Grosios, K

    2000-07-01

    EntreMed has licensed the worldwide rights to the angiogenesis inhibitor Endostatin, a 20 kDa C-terminal fragment of collagen XVIII, from the Children's Hospital of Boston, a teaching affiliate of Harvard Medical School. It is being developed as a potential cancer treatment and may also be useful in certain types of blindness and arthritis [227427]. EntreMed filed an IND for Endostatin in June 1999 [334125] and as of September 1999, phase I trials were underway [341462]. As of April 2000, the company had initiated plans for testing low doses of Endostatin in cancer patients using continuous infusion and sc administration in a further phase I study to be conducted in Europe [361594]. A phase I trial of Endostatin which will evaluate the safety and efficacy of Endostatin at a range of doses in no more than 100 cancer patients has been initiated. The trial will take place at the University of Texas MD Anderson Medical Center and the University of Wisconsin Cancer Center in Madison. The National Cancer Center will be sponsoring the trial, which is expected to be completed in late 2000. As of March 2000, there had been no serious adverse events attributable to Endostatin administration. The first report from this trial is expected in autumn 2000 [341462], [366312]. The mechanism of action for Endostatin remains unclear, although reports from the 91st AACR Meeting in April 2000 showed that recombinant human endostatin bound to a number of tropomyosin cDNAs in a library screen [362039]. In preclinical studies, repeated administration of Endostatin consistently shrank primary tumors and did not produce any drug resistance. In mice, a variety of tumors which had progressed to 1 to 2% of total body weight, regressed to microscopic, dormant lesions following Endostatin treatment [231418], [231470], [270673]. Types of cancers which respond to Endostatin include lung, skin, vascular and fibrosarcomas. Toxicology studies in cynomolgus monkeys showed that bolus injections of

  5. Genetic susceptibility of periodontitis

    NARCIS (Netherlands)

    Laine, M.L.; Crielaard, W.; Loos, B.G.

    2012-01-01

    In this systematic review, we explore and summarize the peer-reviewed literature on putative genetic risk factors for susceptibility to aggressive and chronic periodontitis. A comprehensive literature search on the PubMed database was performed using the keywords ‘periodontitis’ or ‘periodontal

  6. Genetics Home Reference: Liddle syndrome

    Science.gov (United States)

    ... 3. Citation on PubMed Snyder PM, Price MP, McDonald FJ, Adams CM, Volk KA, Zeiher BG, Stokes ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  7. Genetics Home Reference: Renpenning syndrome

    Science.gov (United States)

    ... 21. Citation on PubMed Tapia VE, Nicolaescu E, McDonald CB, Musi V, Oka T, Inayoshi Y, Satteson ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  8. Hvordan er det å leve med CRPS?

    OpenAIRE

    Hovind, Thomas

    2014-01-01

    Hensikten med denne studien er å se på hvordan pasienter med komplekst regionalt smertesyndrom (CRPS) opplever å leve med tilstanden og hvordan disse pasientene har opplevd å bli møtt i helsevesenet. CRPS er en langvarig tilstand med sterke smerter som kan medføre økt smerterespons, redusert funksjon og nedsatt livskvalitet hos pasientene. Studien er en kvalitativ undersøkelse basert på dybdeintervju av fire pasienter med CRPS. Pasientene ble rekruttert fra en smerteavdeling i Nord-Norge og u...

  9. The MedCLIVAR Network

    Science.gov (United States)

    Lionello, Piero; Medclivar sg, The

    2013-04-01

    The MedCLIVAR initiative was first proposed at the 2003 European Geosciences Union assembly in Nice, France. In 2005, it was endorsed by the International Climate Variability and Predictability (CLIVAR) office. Subsequently, the MedCLIVAR Research Network Project was formally approved by the European Science Foundation and launched in May 2006 with the support of funding agencies from 12 countries. Since then, MedCLIVAR has served as a scientific network to promote interaction among different scientific disciplines and to develop a multidisciplinary vision of the evolution of the Mediterranean climate through studies that integrate atmospheric, marine, and terrestrial climate components at time scales ranging from paleoreconstructions to future climate scenarios. Presently, the network continues dealing with scientific issues including past climate variability; connections between the Mediterranean and global climate; the Mediterranean Sea circulation and sea level; feedbacks on the global climate system; and regional responses to greenhouse gas, air pollution, and aerosols. Its present activities include the publication of a newsletter, the organization of the next MedCLIVAR conference in 2014 and the publication of a special issue of Regional Environmental Change devoted to the climate of the Mediterranean region.

  10. Social Context, Stress, Neuropsychiatric Disorders, and the Vasopressin 1b Receptor

    Directory of Open Access Journals (Sweden)

    Heather K. Caldwell

    2017-10-01

    Full Text Available The arginine vasopressin 1b receptor (Avpr1b is involved in the modulation of a variety of behaviors and is an important part of the mammalian hormonal stress axis. The Avpr1b is prominent in hippocampal CA2 pyramidal cells and in the anterior pituitary corticotrophs. Decades of research on this receptor has demonstrated its importance to the modulation of social recognition memory, social forms of aggression, and modulation of the hypothalamic-pituitary-adrenal axis, particularly under conditions of acute stress. Further, work in humans suggests that the Avpr1b may play a role in human neuropsychiatric disorders and its modulation may have therapeutic potential. This paper reviews what is known about the role of the Avpr1b in the context of social behaviors, the stress axis, and human neuropsychiatric disorders. Further, possible mechanisms for how Avpr1b activation within the hippocampus vs. Avpr1b activation within anterior pituitary may interact with one another to affect behavioral output are proposed.

  11. A Common STEP in the Synaptic Pathology of Diverse Neuropsychiatric Disorders

    Science.gov (United States)

    Johnson, Micah A.; Lombroso, Paul J.

    2012-01-01

    Synaptic function is critical for proper cognition, and synaptopathologies have been implicated in diverse neuropsychiatric disorders. STriatal-Enriched protein tyrosine Phosphatase (STEP) is a brain-enriched tyrosine phosphatase that normally opposes synaptic strengthening by dephosphorylating key neuronal signaling molecules. STEP targets include N-methyl D-aspartate receptors (NMDARs) and α-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid receptors (AMPARs), as well as extracellular signal-regulated kinase (ERK) and the tyrosine kinase Fyn. STEP-mediated dephosphorylation promotes the internalization of NMDARs and AMPARs and the inactivation of ERK and Fyn. Regulation of STEP is complex, and recent work has implicated STEP dysregulation in the pathophysiology of several neuropsychiatric disorders. Both high levels and low levels of STEP are found in a diverse group of illnesses. This review focuses on the role of STEP in three disorders in which STEP levels are elevated: Alzheimer’s disease, fragile X syndrome, and schizophrenia. The presence of elevated STEP in all three of these disorders raises the intriguing possibility that cognitive deficits resulting from diverse etiologies may share a common molecular pathway. PMID:23239949

  12. Genetics Home Reference: trisomy 13

    Science.gov (United States)

    ... 15;93(6):801-3. Citation on PubMed Hall HE, Chan ER, Collins A, Judis L, Shirley S, ... CRISPR-Cas9? What is direct-to-consumer genetic testing? What is precision medicine? What is newborn screening? ...

  13. Neuropsychiatric Symptoms in Latino Elders with Dementia or Cognitive Impairment without Dementia and Factors that Modify Their Association with Caregiver Depression

    Science.gov (United States)

    Hinton, Ladson; Haan, Mary; Geller, Sue; Mungas, Dan

    2003-01-01

    Purpose: The purpose of this study was to determine neuropsychiatric symptom frequency and intensity in demented and cognitively impaired but not demented Latino elderly persons, evaluate whether overall neuropsychiatric symptom intensity is associated with higher levels of caregiver depression, and identify factors that modify the relationship…

  14. Redefining the MED13L syndrome.

    Science.gov (United States)

    Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert; Maciel, Patricia; Hu, Hao; Isidor, Bertrand; Picker-Minh, Sylvie; Le Caignec, Cedric; Delle Chiaie, Barbara; Vanakker, Olivier; Menten, Björn; Dheedene, Annelies; Bockaert, Nele; Roelens, Filip; Decaestecker, Karin; Silva, João; Soares, Gabriela; Lopes, Fátima; Najmabadi, Hossein; Kahrizi, Kimia; Cox, Gerald F; Angus, Steven P; Staropoli, John F; Fischer, Ute; Suckow, Vanessa; Bartsch, Oliver; Chess, Andrew; Ropers, Hans-Hilger; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M; Kalscheuer, Vera M

    2015-10-01

    Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits.

  15. Redefining the MED13L syndrome

    Science.gov (United States)

    Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert; Maciel, Patricia; Hu, Hao; Isidor, Bertrand; Picker-Minh, Sylvie; Le Caignec, Cedric; Delle Chiaie, Barbara; Vanakker, Olivier; Menten, Björn; Dheedene, Annelies; Bockaert, Nele; Roelens, Filip; Decaestecker, Karin; Silva, João; Soares, Gabriela; Lopes, Fátima; Najmabadi, Hossein; Kahrizi, Kimia; Cox, Gerald F; Angus, Steven P; Staropoli, John F; Fischer, Ute; Suckow, Vanessa; Bartsch, Oliver; Chess, Andrew; Ropers, Hans-Hilger; Wienker, Thomas F; Hübner, Christoph; Kaindl, Angela M; Kalscheuer, Vera M

    2015-01-01

    Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex congenital heart malformations. Rather, they depict a syndromic form of ID characterized by facial dysmorphism, ID, speech impairment, motor developmental delay with muscular hypotonia and behavioral difficulties. We thereby define a novel syndrome and significantly broaden the clinical spectrum associated with MED13L variants. A prominent feature of the MED13L neurocognitive presentation is profound language impairment, often in combination with articulatory deficits. PMID:25758992

  16. Tang med omtanke

    DEFF Research Database (Denmark)

    Schlundt, Jørgen

    2013-01-01

    Befolkningen bør kende både mulige positive og negative effekter af fødevarer, før de spiser dem. Det mener Jørgen Schlundt, DTU Fødevareinstituttet, med henvisning til Ole G. Mouritsens kritik af instituttets udmeldinger om tang i det seneste nummer af Aktuel Naturvidenskab.......Befolkningen bør kende både mulige positive og negative effekter af fødevarer, før de spiser dem. Det mener Jørgen Schlundt, DTU Fødevareinstituttet, med henvisning til Ole G. Mouritsens kritik af instituttets udmeldinger om tang i det seneste nummer af Aktuel Naturvidenskab....

  17. TwiMed: Twitter and PubMed Comparable Corpus of Drugs, Diseases, Symptoms, and Their Relations.

    Science.gov (United States)

    Alvaro, Nestor; Miyao, Yusuke; Collier, Nigel

    2017-05-03

    Work on pharmacovigilance systems using texts from PubMed and Twitter typically target at different elements and use different annotation guidelines resulting in a scenario where there is no comparable set of documents from both Twitter and PubMed annotated in the same manner. This study aimed to provide a comparable corpus of texts from PubMed and Twitter that can be used to study drug reports from these two sources of information, allowing researchers in the area of pharmacovigilance using natural language processing (NLP) to perform experiments to better understand the similarities and differences between drug reports in Twitter and PubMed. We produced a corpus comprising 1000 tweets and 1000 PubMed sentences selected using the same strategy and annotated at entity level by the same experts (pharmacists) using the same set of guidelines. The resulting corpus, annotated by two pharmacists, comprises semantically correct annotations for a set of drugs, diseases, and symptoms. This corpus contains the annotations for 3144 entities, 2749 relations, and 5003 attributes. We present a corpus that is unique in its characteristics as this is the first corpus for pharmacovigilance curated from Twitter messages and PubMed sentences using the same data selection and annotation strategies. We believe this corpus will be of particular interest for researchers willing to compare results from pharmacovigilance systems (eg, classifiers and named entity recognition systems) when using data from Twitter and from PubMed. We hope that given the comprehensive set of drug names and the annotated entities and relations, this corpus becomes a standard resource to compare results from different pharmacovigilance studies in the area of NLP. ©Nestor Alvaro, Yusuke Miyao, Nigel Collier. Originally published in JMIR Public Health and Surveillance (http://publichealth.jmir.org), 03.05.2017.

  18. The 5-HT2A receptor binding pattern in the human brain is strongly genetically determined

    DEFF Research Database (Denmark)

    Pinborg, Lars H; Arfan, Haroon; Haugbol, Steven

    2007-01-01

    With the appropriate radiolabeled tracers, positron emission tomography (PET) enables in vivo human brain imaging of markers for neurotransmission, including neurotransmitter synthesis, receptors, and transporters. Whereas structural imaging studies have provided compelling evidence that the human...... brain anatomy is largely genetically determined, it is currently unknown to what degree neuromodulatory markers are subjected to genetic and environmental influence. Changes in serotonin 2A (5-HT(2A)) receptors have been reported to occur in various neuropsychiatric disorders and an association between...

  19. Does Chinese calligraphy therapy reduce neuropsychiatric symptoms: a systematic review and meta-analysis.

    Science.gov (United States)

    Chu, Kuan-Yu; Huang, Chih-Yang; Ouyang, Wen-Chen

    2018-03-07

    There are currently no systematic reviews or meta-analyses of Chinese calligraphy therapy (CCT) to reduce neuropsychiatric symptoms. The aim of this systematic review and meta-analysis was to explore the efficacy of CCT for people with neuropsychiatric symptoms. We searched Chinese and English databases, including the Cochrane Central Register of Controlled Trials and Wanfang Data for relevant articles published between the earliest year available and December 2016. The search was limited to randomized controlled trials and controlled clinical studies and the associated keywords were "handwriting," "Chinese calligraphy," "Chinese calligraphy therapy," "Calligraphy exercise," and "Calligraphy training." The 21 articles that met these criteria were used in the analysis. The Joanna Briggs Institute critical appraisal checklist was used to assess methodological quality. CCT significantly reduced psychosis (10 studies, 965 subjects, standardized mean difference [SMD] = - 0.17, 95% confidence intervals [CI] [- 0.30, - 0.40], Z = 2.60, p schizophrenia symptoms (4 studies, 287 subjects, SMD = - 0.35, 95% CI [- 0.59, - 0.12], Z = 2.96, p = 0.003) and reduced the negative symptoms of schizophrenia (4 studies, 276 subjects, SMD = - 1.39, 95% CI [- 1.65, - 1.12], Z = 10.23, p < 0.001). CCT exerts a curative effect on neuropsychiatric symptoms, but the evidence remains insufficient. A large number of RCTs are needed to facilitate additional systematic reviews of evidence for CCT.

  20. Neuropsychiatric complications associated with interferon - alpha -2b treatment of malignant melanoma.

    LENUS (Irish Health Repository)

    Enudi, W

    2012-02-01

    Several adverse effects have been associated with interferon alpha 2b treatment and neuropsychiatric effects have also been commonly reported. Psychosis and mood disorders have been described in the literature. This case report is of a 30 year old man with malignant melanoma stage 3a who was receiving adjuvant alpha 2b interferon and developed a manic episode two weeks post switching after one month of treatment on a high dose to a low dose. There was no previous psychiatric illness and no known family history of mental illness. This is in keeping with previous reports that mania has been observed in patients undergoing interferon treatment especially after significant dose-reduction or treatment breaks. Mania induced by interferon responds well to antimanic drugs .Since interferon alpha 2b is now commonly used in the treatment of malignant melanoma and other conditions, the need to be aware of its neuropsychiatric complications is essential.

  1. Neuropsychiatric complications associated with interferon - alpha -2b treatment of malignant melanoma.

    LENUS (Irish Health Repository)

    Enudi, W

    2009-08-01

    Several adverse effects have been associated with interferon alpha 2b treatment and neuropsychiatric effects have also been commonly reported. Psychosis and mood disorders have been described in the literature. This case report is of a 30 year old man with malignant melanoma stage 3a who was receiving adjuvant alpha 2b interferon and developed a manic episode two weeks post switching after one month of treatment on a high dose to a low dose. There was no previous psychiatric illness and no known family history of mental illness. This is in keeping with previous reports that mania has been observed in patients undergoing interferon treatment especially after significant dose-reduction or treatment breaks. Mania induced by interferon responds well to antimanic drugs .Since interferon alpha 2b is now commonly used in the treatment of malignant melanoma and other conditions, the need to be aware of its neuropsychiatric complications is essential.

  2. Genetics Home Reference: fumarase deficiency

    Science.gov (United States)

    ... V, Tomlinson IP. The FH mutation database: an online database of fumarate hydratase mutations involved in the MCUL (HLRCC) tumor syndrome and congenital fumarase deficiency. BMC Med Genet. 2008 Mar 25;9:20. doi: 10.1186/1471-2350- ...

  3. PubMed Informer: Monitoring MEDLINE/PubMed through E-mail Alerts, SMS, PDA downloads and RSS feeds

    Science.gov (United States)

    Muin, Michael; Fontelo, Paul; Ackerman, Michael

    2005-01-01

    Summary PubMed Informer is a Web-based monitoring tool for topics of interest from MEDLINE/PubMed primarily designed for healthcare professionals. Five tracking methods are available: Web access, e-mail, Short Message Service (SMS), PDA downloads and RSS feeds. PubMed Informer delivers focused search updates and specific information to users with varying information-seeking practices. PMID:16779344

  4. Neuropsychiatric manifestation of celiac disease: A case-control study in North India

    Directory of Open Access Journals (Sweden)

    Mahendra Nimel

    2016-01-01

    Full Text Available Background: Celiac disease (CD is an immune-mediated disease dependent on gluten. Prevalence of CD is about 1% and beside gastrointestinal complaints, neuropsychiatric symptoms may represent an atypical feature of CD. Some studies suggest that a gluten-free diet is effective in treating them. Settings and Design: This case-control study of 49 cases was done during the period of January to March 2013. Aim: To know the spectrum of psychiatric manifestations and cognitive functions in children with CD. Materials and Methods: We took 49 diagnosed cases of CD (based on the demonstration of IgA tissue transglutaminase antibodies and duodenal biopsy and compared with demographically matched control group (n = 50 on Seguin Form Board Test for cognitive functions and Behavioral Summarized Evaluation-Revised scale for assessment of psychiatric and behavior disturbances. All possible psychiatric diagnosis was made on the basis of International Statistical Classification of Disease and Related Health Problems-Tenth Revision criteria. Statistical Analysis: Statistical analyses were done by using Chi-square test and two-tailed P-values. Results: Neuropsychiatric manifestations were seen in 29% of cases as against 4% of controls which was statistically significant (P=0.001. Only four cases and 1 control fount to be mild mental retardation (P = 0.16. Autism, dyslexia, developmental delay, disruptive behavior disorder, and tic disorder present in cases were not found. Conclusion: Clinical manifestations of CD vary from typical malabsorption syndrome to neuropsychiatric manifestations. Those psychiatric patients who are not responding to standard pharmacological modalities, a diagnosis of CD should be taken into consideration. Only behavioral problem can be the sole clinical manifestation of CD.

  5. Prevalence of Vitamin B12 and folic acid deficiency in HIV-positive patients and its association with neuropsychiatric symptoms and immunological response.

    Science.gov (United States)

    Adhikari, Prabha M R; Chowta, Mukta N; Ramapuram, John T; Rao, Satish; Udupa, Karthik; Acharya, Sahana Devdas

    2016-01-01

    Deficiency of micronutrients is prevalent even before the development of symptoms of HIV disease and is associated with accelerated HIV disease progression. This study evaluates the prevalence of folate and Vitamin B 12 deficiency in HIV-positive patients with or without tuberculosis (TB) and its association with neuropsychiatric symptoms and immunological response. Cross-sectional, observational study in an outpatient setting. Four groups of HIV-positive patients with TB (Group I), HIV-positive patients with neuropsychiatric symptoms (Group II), HIV-positive patients without neuropsychiatric symptoms or TB (Group III), and HIV-negative controls with neuropsychiatric symptoms (Group IV). Vitamin B 12 and folate estimation was done using carbonyl metallo-immunoassay method. ANOVA, Kruskal-Wallis and Mann-Whitney, Pearson's correlation. The prevalence of folic acid deficiency was 27.1% in the Group I, 31.9% in the Group II, 23.4% in the Group III, and 32% in the Group IV being higher in patients with neuropsychiatric symptoms in both HIV and non-HIV patients. The prevalence of Vitamin B 12 deficiency was 18.8% in Group I, 9.1% in Group II, 4.8% in Group III, and 16.7% in Group IV. The patients with folate deficiency had more severe depression and anxiety. Nearly, 30% of the HIV patients had a folic acid deficiency, and about 10% of the HIV patients had Vitamin B 12 deficiency. The folate deficiency was highest among neuropsychiatric patients with or without HIV infection and Vitamin B 12 deficiency was higher among HIV patients with TB.

  6. Two Branches of the Same Tree: A Brief History of Turkish Neuropsychiatric Society (1914-2016).

    Science.gov (United States)

    Artvinli, Fatih; Erkoç, Şahap; Kardeş, Fulya

    2017-12-01

    The aim of this article is to provide a brief history of Turkish Neuropsychiatric Society by examining its institutional background, the milestones within its history, and the major activities undertaken by the organization during the years. Firstly, the books, journals, and articles that are related to the history of psychiatry and neurology in Turkey have been reviewed and the information that can explain the history of the society has been brought together. The founding records, regulations, journals, and congress booklets of Tababet-i Akliye ve Asabiye Cemiyeti (Society of Psychiatry and Neurology) have been examined and the newspapers of the period have been reviewed to collect news concerning congresses and meetings. Besides, oral history interviews have been conducted with regard to the recent history of the society. Although the roots of neuropsychiatry in Turkey date back to the mid-nineteenth century, the first society, which was called Tababet-i Akliye ve Asabiye Cemiyeti (Society of Psychiatry and Neurology), was founded in 1914. The organization now maintains its activities under the name Türk Nöropsikiyatri Derneği (Turkish Neuropsychiatric Society). Turkish Neuropsychiatric Society has organized monthly meetings, conferences, and national congresses and has published numerous scientific journals in the field of neuropsychiatry over the past century. As one of the earliest societies of medical specialty in Turkey, Turkish Neuropsychiatric Society has played a crucial role in the development and institutionalization of psychiatry and neurology. The administration and activities of the society occurred in the following institutions respectively: Toptaşı Asylum (1914-1925), Bakırköy (1925-1955), and Çapa (Psychiatry Clinic of Medical Faculty of İstanbul University). The society was mainly composed of psychiatrists and neurologists; however, neurosurgeons, psychologists, and neuropsychologists also attended the congresses and meetings held by the

  7. Validity and reliability of the European portuguese version of neuropsychiatric inventory in an institutionalized sample.

    Science.gov (United States)

    Ferreira, Ana Rita; Martins, Sonia; Ribeiro, Orquidea; Fernandes, Lia

    2015-01-01

    Neuropsychiatric symptoms are very common in dementia and have been associated with patient and caregiver distress, increased risk of institutionalization and higher costs of care. In this context, the neuropsychiatric inventory (NPI) is the most widely used comprehensive tool designed to measure neuropsychiatric Symptoms in geriatric patients with dementia. The aim of this study was to present the validity and reliability of the European Portuguese version of NPI. A cross-sectional study was carried out with a convenience sample of institutionalized patients (≥ 50 years old) in three nursing homes in Portugal. All patients were also assessed with mini-mental state examination (MMSE) (cognition), geriatric depression scale (GDS) (depression) and adults and older adults functional assessment inventory (IAFAI) (functionality). NPI was administered to a formal caregiver, usually from the clinical staff. Inter-rater and test-retest reliability were assessed in a subsample of 25 randomly selected subjects. The sample included 166 elderly, with a mean age of 80.9 (standard deviation: 10.2) years. Three out of the NPI behavioral items had negative correlations with MMSE: delusions (rs = -0.177, P = 0.024), disinhibition (rs = -0.174, P = 0.026) and aberrant motor activity (rs = -0.182, P = 0.020). The NPI subsection of depression/dysphoria correlated positively with GDS total score (rs = 0.166, P = 0.038). NPI showed good internal consistency (overall α = 0.766; frequency α = 0.737; severity α = 0.734). The inter-rater reliability was excellent (intraclass correlation coefficient (ICC): 1.00, 95% confidence interval (CI) 1.00 - 1.00), as well as test-retest reliability (ICC: 0.91, 95% CI 0.80 - 0.96). The results found for convergent validity, inter-rater and test-retest reliability, showed that this version appears to be a valid and reliable instrument for evaluation of neuropsychiatric symptoms in institutionalized elderly.

  8. Genetics Home Reference: caudal regression syndrome

    Science.gov (United States)

    ... umbilical artery: Further support for a caudal regression-sirenomelia spectrum. Am J Med Genet A. 2007 Dec ... AK, Dickinson JE, Bower C. Caudal dysgenesis and sirenomelia-single centre experience suggests common pathogenic basis. Am ...

  9. A marvel of precision: MedAustron

    CERN Document Server

    Anaïs Schaeffer

    2013-01-01

    MedAustron, which is currently being built in Austria, will be one of the most advanced centres for ion beam therapy and research in Europe. It is based on the same design as the Italian National Centre for Oncological Hadrontherapy (CNAO), which in turn is based on the CERN-led Proton Ion Medical Machine Study (PIMMS). MedAustron should welcome its first patient at the end of 2015.   Layout of the MedAustron accelerator complex.  With three ion-sources, a linac, a synchrotron and four irradiation rooms (see picture), MedAustron is a huge accelerator complex. Among other equipment, it comprises 300 magnets of 30 different types, all designed at CERN but produced at different sites: “We are working with five main suppliers from Europe and Russia,” explains Thomas Zickler, leader of the MedAustron magnet group. “All the magnets come to CERN to undergo a series of strict acceptance tests.” From the interfaces, to the electrical insulation, the co...

  10. Exosomal MicroRNAs as Potential Biomarkers in Neuropsychiatric Disorders.

    Science.gov (United States)

    Fries, Gabriel R; Quevedo, Joao

    2018-01-01

    This chapter will discuss the potential use of microRNAs, particularly those located in peripherally-isolated exosomes, as biomarkers in neuropsychiatric disorders. These extracellular vesicles are released as a form of cell-to-cell communication and may mediate the soma-to-germline transmission of brain-relevant information, thereby potentially contributing to the inter- or transgenerational transmission of behavioral traits. Recent novel methods allow for the enrichment of peripheral exosomes specifically released by neurons and astrocytes and may provide valuable brain-relevant biosignatures of disease.

  11. Genetics Home Reference: tuberous sclerosis complex

    Science.gov (United States)

    ... 42. Citation on PubMed Northrup H, Koenig MK, Pearson DA, Au KS. Tuberous Sclerosis Complex. 1999 Jul ... Tuberous sclerosis complex: advances in diagnosis, genetics, and management. J Am Acad Dermatol. 2007 Aug;57(2): ...

  12. The Arabidopsis mediator complex subunits MED16, MED14, and MED2 regulate mediator and RNA polymerase II recruitment to CBF-responsive cold-regulated genes.

    Science.gov (United States)

    Hemsley, Piers A; Hurst, Charlotte H; Kaliyadasa, Ewon; Lamb, Rebecca; Knight, Marc R; De Cothi, Elizabeth A; Steele, John F; Knight, Heather

    2014-01-01

    The Mediator16 (MED16; formerly termed SENSITIVE TO FREEZING6 [SFR6]) subunit of the plant Mediator transcriptional coactivator complex regulates cold-responsive gene expression in Arabidopsis thaliana, acting downstream of the C-repeat binding factor (CBF) transcription factors to recruit the core Mediator complex to cold-regulated genes. Here, we use loss-of-function mutants to show that RNA polymerase II recruitment to CBF-responsive cold-regulated genes requires MED16, MED2, and MED14 subunits. Transcription of genes known to be regulated via CBFs binding to the C-repeat motif/drought-responsive element promoter motif requires all three Mediator subunits, as does cold acclimation-induced freezing tolerance. In addition, these three subunits are required for low temperature-induced expression of some other, but not all, cold-responsive genes, including genes that are not known targets of CBFs. Genes inducible by darkness also required MED16 but required a different combination of Mediator subunits for their expression than the genes induced by cold. Together, our data illustrate that plants control transcription of specific genes through the action of subsets of Mediator subunits; the specific combination defined by the nature of the stimulus but also by the identity of the gene induced.

  13. The NeuroIMAGE study : a prospective phenotypic, cognitive, genetic and MRI study in children with attention-deficit/hyperactivity disorder. Design and descriptives

    NARCIS (Netherlands)

    von Rhein, Daniel; Mennes, Maarten; van Ewijk, Hanneke; Groenman, Annabeth P.; Zwiers, Marcel P.; Oosterlaan, Jaap; Heslenfeld, Dirk; Franke, Barbara; Hoekstra, Pieter J.; Faraone, Stephen V.; Hartman, Catharina; Buitelaar, Jan

    Attention-deficit/hyperactivity disorder (ADHD) is a persistent neuropsychiatric disorder which is associated with impairments on a variety of cognitive measures and abnormalities in structural and functional brain measures. Genetic factors are thought to play an important role in the etiology of

  14. The NeuroIMAGE study: a prospective phenotypic, cognitive, genetic and MRI study in children with attention-deficit/hyperactivity disorder. Design and descriptives.

    NARCIS (Netherlands)

    von Rhein, D; Mennes, M.; van Ewijk, H.; Groenman, A.P.; Zwiers, M.P.; Oosterlaan, J.; Heslenfeld, D.J.; Franke, B.; Hoekstra, P.J.; Faraone, S.V.; Hartman, C.A.; Buitelaar, J.K.

    2015-01-01

    Attention-deficit/hyperactivity disorder (ADHD) is a persistent neuropsychiatric disorder which is associated with impairments on a variety of cognitive measures and abnormalities in structural and functional brain measures. Genetic factors are thought to play an important role in the etiology of

  15. The NeuroIMAGE study: a prospective phenotypic, cognitive, genetic and MRI study in children with attention-deficit/hyperactivity disorder. Design and descriptives

    NARCIS (Netherlands)

    Rhein, D.T. von; Mennes, M.; Ewijk, H. van; Groenman, A.P.; Zwiers, M.P.; Oosterlaan, J.; Heslenfeld, D.; Franke, B.; Hoekstra, P.J.; Faraone, S.V; Hartman, C.; Buitelaar, J.K.

    2015-01-01

    Attention-deficit/hyperactivity disorder (ADHD) is a persistent neuropsychiatric disorder which is associated with impairments on a variety of cognitive measures and abnormalities in structural and functional brain measures. Genetic factors are thought to play an important role in the etiology of

  16. Curcumin for neuropsychiatric disorders: a review of in vitro, animal and human studies.

    Science.gov (United States)

    Lopresti, Adrian L

    2017-03-01

    Turmeric has been used in traditional medicine for centuries to treat a range of ailments. Its primary active constituent curcumin, can influence an array of biological activities. Many of these, such as its anti-inflammatory, antioxidant, neuroprotective, and monoaminergic effects are dysregulated in several neuropsychiatric disorders. In this systematic review, in vitro, animal, and human studies investigating the potential of curcumin as a treatment for neuropsychiatric disorders such as major depressive disorder, post-traumatic stress disorder (PTSD), obsessive-compulsive disorder (OCD), bipolar disorder, psychotic disorders, and autism are reviewed, and directions for future research are proposed. It is concluded that curcumin is a promising, natural agent for many of these conditions, however, further research utilising robust, clinical designs are essential. The problem associated with the poor oral bioavailability of standard curcumin also requires consideration. Currently the greatest support for the efficacy of curcumin is for the treatment of major depressive disorder.

  17. Mødet med det Andet

    DEFF Research Database (Denmark)

    Marchwinski, Alena

    2002-01-01

    Da Christen Købke i 1830 malte sitt bilde fra Kunstakademiets avstøpningssamling på Charlottenborg, skildret han en situasjon som vordende danske kunstnere hadde vært fortrolige med i flere generasjoner: en ung mann betrakter en avstøpning av en antikk skulptur. Med utgangspunkt i kombinasjonen a...

  18. Et felteksperiment med Kærlighed i Kaos

    DEFF Research Database (Denmark)

    Christensen, Christiane Præstgaard; Scavenius Sonne-Schmidt, Christoffer

    Som et nyt tilbud til danske forældre med børn med ADHD og ADHD-lignende vanskeligheder har ADHDforeningen udviklet forældretræningsprogrammet Kærlighed i Kaos, hvor frivillige hjælper forældre til børn med ADHD, der står med et særligt vanskeligt opdragelsesarbejde. Denne rapport har til formål......, når forældrene stiller krav til børnene. Resultaterne i denne rapport har interesse for fagpersoner, behandlere, undervisere, beslutningstagere, frivillige organisationer, foreninger og de mange nuværende og kommende familier, som dagligt kæmper med adfærdsvanskeligheder – såsom ADHD. Effektmålingen...

  19. Redefining the MED13L syndrome

    OpenAIRE

    Adegbola, Abidemi; Musante, Luciana; Callewaert, Bert; Maciel, Patricia; Hu, Hao; Isidor, Bertrand; Picker-Minh, Sylvie; Le Caignec, Cedric; Delle Chiaie, Barbara; Vanakker, Olivier; Menten, Björn; Dheedene, Annelies; Bockaert, Nele; Roelens, Filip; Decaestecker, Karin

    2015-01-01

    Congenital cardiac and neurodevelopmental deficits have been recently linked to the mediator complex subunit 13-like protein MED13L, a subunit of the CDK8-associated mediator complex that functions in transcriptional regulation through DNA-binding transcription factors and RNA polymerase II. Heterozygous MED13L variants cause transposition of the great arteries and intellectual disability (ID). Here, we report eight patients with predominantly novel MED13L variants who lack such complex conge...

  20. A STRATEGY FOR DEVELOPING NEW TREATMENT PARADIGMS FOR NEUROPSYCHIATRIC AND NEUROCOGNITIVE SYMPTOMS IN ALZHEIMER’S DISEASE

    Directory of Open Access Journals (Sweden)

    Hugo eGeerts

    2013-04-01

    Full Text Available Successful disease-modifying drug development for Alzheimer’s disease has hit a roadblock with the recent failures of amyloid-based therapies, highlighting the translational disconnect between preclinical animal models and clinical outcome. Although disease-modifying therapies are the Holy Grail to pursue, symptomatic therapies addressing cognitive and neuropsychiatric aspects of the disease are also extremely important for the quality of life of patients and caregivers. Despite the fact that neuropsychiatric problems in Alzheimer patients are the major driver for costs associated with institutionalization, no good preclinical animal models with predictive validity have been documented. We propose a combination of quantitative systems pharmacology (QSP, phenotypic screening and preclinical animal models as a novel strategy for addressing the bottleneck in both cognitive and neuropsychiatric drug discovery and development for Alzheimer’s disease. Preclinical animal models such as transgene rats documenting changes in neurotransmitters with tau and amyloid pathology will provide key information that together with human imaging, pathology and clinical data will inform the virtual patient model. In this way QSP modeling can partially overcome the translational disconnect and reduce the attrition of drug programs in the clinical setting. This approach is different from target driven drug discovery as it aims to restore emergent properties of the networks and therefore likely will identify multitarget drugs. We review examples on how this hybrid humanized QSP approach has been helpful in predicting clinical outcomes in schizophrenia treatment and cognitive impairment in Alzheimer’s disease and expand on how this strategy could be applied to neuropsychiatric symptoms in dementia. We believe such an innovative approach when used carefully could change the R&D paradigm for symptomatic treatment in Alzheimer’s disease.

  1. Genetics Home Reference: Potocki-Shaffer syndrome

    Science.gov (United States)

    ... PubMed Central Montgomery ND, Turcott CM, Tepperberg JH, McDonald MT, Aylsworth AS. A 137-kb deletion within ... 10 All Bulletins Features What is direct-to-consumer genetic testing? What are genome editing and CRISPR- ...

  2. Medical and neuropsychiatric phenomena depicted in two Spanish medieval texts of Marian miracles.

    Science.gov (United States)

    de Assis Aquino Gondim, Francisco; Bastante, Pamela; Gondim, Wilcar Cavalcante; Filha, Joana Gurgel Holanda; Thomas, Florian P

    2018-03-01

    In the history of Christianity, veneration of the Virgin Mary reached its greatest intensity in the XIII century. Her perceived impact on daily life was tremendous and not surprisingly this extended to the spheres of disease and healing. The purpose of this study is to compare the medical and neuropsychiatric findings in two XIII century Spanish texts of Marian miracles, both examples of the popular Catholicism (vs. official catholic doctrine). We analyzed the medical and neuropsychiatric events in the Cantigas de Santa Maria (Canticles of St. Mary, CSM), composed at the court of Alfonso X and the Milagros de Nuestra Señora (The Miracles of Our Lady, MNS), written by Gonzalo de Berceo. Among the 25 miracles reported in the MNS, medically relevant facts were addressed in 19 miracles with a total of 23 recorded events (including resurrection or escape from death in five) and demonic possession in three (one with witchcraft/deicide). The most common medical subjects were ergotism, obstetric-gynecological, sudden death, intellectual disability/illiteracy, encephalopathy/alcohol intoxication, suicide (with self-mutilation/castration), infanticide, infections, and absence of body decomposition after death. The 427 canticles in the CSM contain 270 medically relevant facts. Neuropsychiatric conditions were alluded to in 98 songs. Blindness and dystonia/weakness/deformities were the most common phenomena. Illuminations detailed many of the medical facts in the CSM, but not in the MNS. Medically relevant facts were described in both texts, but with more details in the CSM. Neurological conditions were more often described in the CSM, psychiatric conditions in the MNS.

  3. Med det sociale som designmateriale

    DEFF Research Database (Denmark)

    Brandt, Eva; Binder, Thomas

    2016-01-01

    Samarbejde, samskabelse og social nysgerrighed er i dag en præmis for den nyskabende designer. Det sociale er det nye designmateriale som unge designere giver sig i kast med når f.eks. Emmy Linde samarbejder med plejehjemsbeboere, deres pårørende, plejepersonale og fysioterapeuter for at designe ...

  4. Glucocorticoid Mechanisms of Functional Connectivity Changes in Stress-Related Neuropsychiatric Disorders.

    Science.gov (United States)

    Hall, Baila S; Moda, Rachel N; Liston, Conor

    2015-01-01

    Stress-especially chronic, uncontrollable stress-is an important risk factor for many neuropsychiatric disorders. The underlying mechanisms are complex and multifactorial, but they involve correlated changes in structural and functional measures of neuronal connectivity within cortical microcircuits and across neuroanatomically distributed brain networks. Here, we review evidence from animal models and human neuroimaging studies implicating stress-associated changes in functional connectivity in the pathogenesis of PTSD, depression, and other neuropsychiatric conditions. Changes in fMRI measures of corticocortical connectivity across distributed networks may be caused by specific structural alterations that have been observed in the prefrontal cortex, hippocampus, and other vulnerable brain regions. These effects are mediated in part by glucocorticoids, which are released from the adrenal gland in response to a stressor and also oscillate in synchrony with diurnal rhythms. Recent work indicates that circadian glucocorticoid oscillations act to balance synapse formation and pruning after learning and during development, and chronic stress disrupts this balance. We conclude by considering how disrupted glucocorticoid oscillations may contribute to the pathophysiology of depression and PTSD in vulnerable individuals, and how circadian rhythm disturbances may affect non-psychiatric populations, including frequent travelers, shift workers, and patients undergoing treatment for autoimmune disorders.

  5. Shared genetic aetiology between cognitive functions and physical and mental health in UK Biobank (N=112 151) and 24 GWAS consortia

    Science.gov (United States)

    Hagenaars, S P; Harris, S E; Davies, G; Hill, W D; Liewald, D C M; Ritchie, S J; Marioni, R E; Fawns-Ritchie, C; Cullen, B; Malik, R; Worrall, B B; Sudlow, C L M; Wardlaw, J M; Gallacher, J; Pell, J; McIntosh, A M; Smith, D J; Gale, C R; Deary, I J

    2016-01-01

    Causes of the well-documented association between low levels of cognitive functioning and many adverse neuropsychiatric outcomes, poorer physical health and earlier death remain unknown. We used linkage disequilibrium regression and polygenic profile scoring to test for shared genetic aetiology between cognitive functions and neuropsychiatric disorders and physical health. Using information provided by many published genome-wide association study consortia, we created polygenic profile scores for 24 vascular–metabolic, neuropsychiatric, physiological–anthropometric and cognitive traits in the participants of UK Biobank, a very large population-based sample (N=112 151). Pleiotropy between cognitive and health traits was quantified by deriving genetic correlations using summary genome-wide association study statistics and to the method of linkage disequilibrium score regression. Substantial and significant genetic correlations were observed between cognitive test scores in the UK Biobank sample and many of the mental and physical health-related traits and disorders assessed here. In addition, highly significant associations were observed between the cognitive test scores in the UK Biobank sample and many polygenic profile scores, including coronary artery disease, stroke, Alzheimer's disease, schizophrenia, autism, major depressive disorder, body mass index, intracranial volume, infant head circumference and childhood cognitive ability. Where disease diagnosis was available for UK Biobank participants, we were able to show that these results were not confounded by those who had the relevant disease. These findings indicate that a substantial level of pleiotropy exists between cognitive abilities and many human mental and physical health disorders and traits and that it can be used to predict phenotypic variance across samples. PMID:26809841

  6. Prenatal exposure to gestational diabetes mellitus as an independent risk factor for long-term neuropsychiatric morbidity of the offspring.

    Science.gov (United States)

    Nahum Sacks, Kira; Friger, Michael; Shoham-Vardi, Ilana; Abokaf, Hanaa; Spiegel, Efrat; Sergienko, Ruslan; Landau, Daniella; Sheiner, Eyal

    2016-09-01

    The reported rates of gestational diabetes mellitus are constantly escalating and little is known about long-term complications in the offspring. Evidence from the field of epigenetics strongly advocates the need for research on the neuropsychiatric complications in offspring prenatally exposed to gestational diabetes mellitus. We sought to assess whether in utero exposure to gestational diabetes mellitus increases the risk of long-term neuropsychiatric morbidity in the offspring. A population-based cohort study compared the incidence of hospitalizations due to neuropsychiatric disease between singletons exposed and unexposed to gestational diabetes mellitus. Deliveries occurred in the years 1991 through 2014 in a regional tertiary medical center. Perinatal deaths, multiple gestations, mothers with pregestational diabetes or lack of prenatal care, and children with congenital malformations were excluded from the study. A multivariate generalized estimating equation logistic regression model analysis was used to control for confounders and for maternal clusters. During the study period 231,271 deliveries met the inclusion criteria; 5.4% of the births were to mothers diagnosed with gestational diabetes mellitus (n = 12,642), of these 4.3% had gestational diabetes type A1 (n = 10,076) and 1.1% had gestational diabetes type A2 (n = 2566). During the follow-up period, a significant linear association was noted between the severity of the gestational diabetes (no gestational diabetes, gestational diabetes mellitus A1, gestational diabetes mellitus A2) and neuropsychiatric disease of the offspring (1.02% vs 1.36% vs 1.68%, respectively, P gestational diabetes mellitus had higher cumulative incidence of neuropsychiatric morbidity. Using a generalized estimating equation multivariable logistic regression model, controlling for time-to-event, maternal age, gestational age at delivery, maternal obesity, maternal preeclampsia and fertility treatments, maternal gestational

  7. The role of maternal obesity in the risk of neuropsychiatric disorders

    OpenAIRE

    Heidi Michelle Rivera; Kelly J Christiansen; Elinor L Sullivan; Elinor L Sullivan

    2015-01-01

    Recent evidence indicates that perinatal exposure to maternal obesity, metabolic disease, including diabetes and hypertension, and unhealthy maternal diet has a long-term impact on offspring behavior and physiology. During the past three decades, the prevalence of both obesity and neuropsychiatric disorders has rapidly increased. Epidemiologic studies provide evidence that maternal obesity and metabolic complications increase the risk of attention deficit hyperactivity disorder, autism spectr...

  8. An epigenomics approach to individual differences and its translation to neuropsychiatric conditions.

    Science.gov (United States)

    Sweatt, J David; Tamminga, Carol A

    2016-09-01

    This review concerns epigenetic mechanisms and their roles in conferring interindividual differences, especially as related to experientially acquired and genetically driven changes in central nervous system (CNS) function. In addition, the review contains commentary regarding the possible ways in which epigenomic changes may contribute to neuropsychiatric conditions and disorders and ways in which epigenotyping might be cross-correlated with clinical phenotyping in the context of precision medicine. The review begins with a basic description of epigenetic marking in the CNS and how these changes are powerful regulators of gene readout. Means for characterizing the individual epigenotype are briefly described, with a focus on DNA cytosine methylation as a readily measurable, stable epigenetic mark. This background enables a discussion of how "epigenotyping" might be integrated along with genotyping and deep phenotyping as a means of implementing advanced precision medicine. Finally, the commentary addresses two exemplars when considering how epigenotype may correlate with and modulate cognitive and behavioral phenotype: schizophrenia and Rett syndrome. These two disorders provide an interesting compare-and-contrast example regarding possible epigenotypic regulation of behavior: whereas Rett syndrome is clearly established as being caused by disruption of the function of an epigenetic "reader" of the DNA cytosine methylome-methyl-CpG-binding protein 2 (MeCP2)-the case for a role for epigenetic mechanisms in schizophrenia is still quite speculative.

  9. Aspects of animal models for major neuropsychiatric disorders

    Directory of Open Access Journals (Sweden)

    Lefter Radu

    2014-01-01

    Full Text Available We will review the main animal models for the major neuropsychiatric disorders, focusing on schizophrenia, Alzheimer’s disease, Parkinson’s disease, depression, anxiety and autism. Although these mental disorders are specifically human pathologies and therefore impossible to perfectly replicate in animals, the use of experimental animals is based on the physiological and anatomical similarities between humans and animals such as the rat, and mouse, and on the fact that 99% of human and murine genomes are shared. Pathological conditions in animals can be assessed by manipulating the metabolism of neurotransmitters, through various behavioral tests, and by determining biochemical parameters that can serve as important markers of disorders.

  10. Human melioidosis reported by ProMED

    Directory of Open Access Journals (Sweden)

    Katherinn Melissa Nasner-Posso

    2015-06-01

    Conclusions: Internet-based reporting systems such as ProMED are useful to gather information and synthesize knowledge on emerging infections. Although certain areas need to be improved, ProMED provided good information about melioidosis.

  11. Musikalsk leg med formgivning, timing og vitalitetsformer

    DEFF Research Database (Denmark)

    Holck, Ulla

    2015-01-01

    Ifølge de Udviklingsorienterede Social-Pragmatiske Interventionsformer til børn med Autisme Spektrum Forstyrrelse er en legende indfaldsvinkel, hvor man følger barnets lead, den mest effektive til at engagere yngre børn med autisme eller børn med svær autisme i et gensidigt samspil. Artiklen...

  12. Med-E-Tel

    National Research Council Canada - National Science Library

    Lievens, Frank; Jordanova, Malina

    2006-01-01

    .... The Med-e-Tel 2006 conference program covered over 130 presentations on topics such as homecare and health management, healthcare challenges, tele-education, eHealth in developing countries, telecardiology...

  13. Med-E-Tel

    National Research Council Canada - National Science Library

    Lievens, Frank; Jordanova, Malina

    2006-01-01

    ..., and more. The Med-e-Tel 2006 exhibition showcased products and technologies in the areas of medication compliance, home telehealth and vital sign monitoring, clinical software, electronic medical records...

  14. Genetics educational needs in China: physicians' experience and knowledge of genetic testing.

    Science.gov (United States)

    Li, Jing; Xu, Tengda; Yashar, Beverly M

    2015-09-01

    The aims of this study were to explore the relationship between physicians' knowledge and utilization of genetic testing and to explore genetics educational needs in China. An anonymous survey about experience, attitudes, and knowledge of genetic testing was conducted among physicians affiliated with Peking Union Medical College Hospital during their annual health evaluation. A personal genetics knowledge score was developed and predictors of personal genetics knowledge score were evaluated. Sixty-four physicians (33% male) completed the survey. Fifty-eight percent of them had used genetic testing in their clinical practice. Using a 4-point scale, mean knowledge scores of six common genetic testing techniques ranged from 1.7 ± 0.9 to 2.4 ± 1.0, and the average personal genetics knowledge score was 2.1 ± 0.8. In regression analysis, significant predictors of higher personal genetics knowledge score were ordering of genetic testing, utilization of pedigrees, higher medical degree, and recent genetics training (P education. This study demonstrated a sizable gap between Chinese physicians' knowledge and utilization of genetic testing. Participants had high self-perceived genetics educational needs. Development of genetics educational platforms is both warranted and desired in China.Genet Med 17 9, 757-760.

  15. Annual Research Review: The Promise of Stem Cell Research for Neuropsychiatric Disorders

    Science.gov (United States)

    Vaccarino, Flora M.; Urban, Alexander Eckehart; Stevens, Hanna E.; Szekely, Anna; Abyzov, Alexej; Grigorenko, Elena L.; Gerstein, Mark; Weissman, Sherman

    2011-01-01

    The study of the developing brain has begun to shed light on the underpinnings of both early and adult onset neuropsychiatric disorders. Neuroimaging of the human brain across developmental time points and the use of model animal systems have combined to reveal brain systems and gene products that may play a role in autism spectrum disorders,…

  16. Methylphenidate and Atomoxetine-Responsive Prefrontal Cortical Genetic Overlaps in "Impulsive" SHR/NCrl and Wistar Rats.

    Science.gov (United States)

    Dela Peña, Ike; Dela Peña, Irene Joy; de la Peña, June Bryan; Kim, Hee Jin; Shin, Chan Young; Han, Doug Hyun; Kim, Bung-Nyun; Ryu, Jong Hoon; Cheong, Jae Hoon

    2017-09-01

    Impulsivity, the predisposition to act prematurely without foresight, is associated with a number of neuropsychiatric disorders, including attention-deficit/hyperactivity disorder (ADHD). Identifying genetic underpinnings of impulsive behavior may help decipher the complex etiology and neurobiological factors of disorders marked by impulsivity. To identify potential genetic factors of impulsivity, we examined common differentially expressed genes (DEGs) in the prefrontal cortex (PFC) of adolescent SHR/NCrl and Wistar rats, which showed marked decrease in preference for the large but delayed reward, compared with WKY/NCrl rats, in the delay discounting task. Of these DEGs, we examined drug-responsive transcripts whose mRNA levels were altered following treatment (in SHR/NCrl and Wistar rats) with drugs that alleviate impulsivity, namely, the ADHD medications methylphenidate and atomoxetine. Prefrontal cortical genetic overlaps between SHR/NCrl and Wistar rats in comparison with WKY/NCrl included genes associated with transcription (e.g., Btg2, Fos, Nr4a2), synaptic plasticity (e.g., Arc, Homer2), and neuron apoptosis (Grik2, Nmnat1). Treatment with methylphenidate and/or atomoxetine increased choice of the large, delayed reward in SHR/NCrl and Wistar rats and changed, in varying degrees, mRNA levels of Nr4a2, Btg2, and Homer2, genes with previously described roles in neuropsychiatric disorders characterized by impulsivity. While further studies are required, we dissected potential genetic factors that may influence impulsivity by identifying genetic overlaps in the PFC of "impulsive" SHR/NCrl and Wistar rats. Notably, these are also drug-responsive transcripts which may be studied further as biomarkers to predict response to ADHD drugs, and as potential targets for the development of treatments to improve impulsivity.

  17. At lede med latter

    DEFF Research Database (Denmark)

    Møller, Mette

    2014-01-01

    "Det sagde hun også i går!" Platte vitser, der lægger op til den karakteristiske 'bodom-tchi'-trommelyd, behøver ikke være lederens eneste forsøg på at udvise humoristisk sans på talerstolen. For humor kan være meget andet og gøre meget mere for lederen end at score billige point med en spontan s...... spøg. Humor kan skabe klarhed over en pointe, skabe lederens image og skabe sammenhold i organisationen. Uden trommelyd, men med mange andre effekter i spil....

  18. Predicting clicks of PubMed articles.

    Science.gov (United States)

    Mao, Yuqing; Lu, Zhiyong

    2013-01-01

    Predicting the popularity or access usage of an article has the potential to improve the quality of PubMed searches. We can model the click trend of each article as its access changes over time by mining the PubMed query logs, which contain the previous access history for all articles. In this article, we examine the access patterns produced by PubMed users in two years (July 2009 to July 2011). We explore the time series of accesses for each article in the query logs, model the trends with regression approaches, and subsequently use the models for prediction. We show that the click trends of PubMed articles are best fitted with a log-normal regression model. This model allows the number of accesses an article receives and the time since it first becomes available in PubMed to be related via quadratic and logistic functions, with the model parameters to be estimated via maximum likelihood. Our experiments predicting the number of accesses for an article based on its past usage demonstrate that the mean absolute error and mean absolute percentage error of our model are 4.0% and 8.1% lower than the power-law regression model, respectively. The log-normal distribution is also shown to perform significantly better than a previous prediction method based on a human memory theory in cognitive science. This work warrants further investigation on the utility of such a log-normal regression approach towards improving information access in PubMed.

  19. A systematic review of neuropsychiatric comorbidities in patients with both epilepsy and intellectual disability

    NARCIS (Netherlands)

    van Ool, Jans S.; Snoeijen-Schouwenaars, Francesca M.; Schelhaas, Helenius J.; Tan, In Y.; Aldenkamp, Albert P.; Hendriksen, Jos G.M.

    2016-01-01

    Epilepsy is a neurological condition that is particularly common in people with intellectual disability (ID). The care for people with both epilepsy and ID is often complicated by the presence of neuropsychiatric disorders, defined as psychiatric symptoms, psychiatric disorders, and behavioral

  20. Clinical and neuropsychiatric status in children with Williams-Beuren Syndrome in Upper Egypt.

    Science.gov (United States)

    Saad, Khaled; Abdelrahman, Ahmed A; Abdallah, Alameldin M; Othman, Hisham A K; Badry, Reda

    2013-12-01

    The aim of this study was to evaluate and explore the clinical, neuropsychiatric status and EEG pattern in a series of children with Williams-Beuren syndrome (WBS) in Assiut, Upper Egypt. We aimed to provide a comprehensive data comparable to what has been published, to enable us to make comparisons across different cultural areas. This will contribute to a better definition of the neuropsychiatric features that may be specific to WBS that allows early and better detection and management of those children. A series of 17 WBS children patients who consulted at our hospital were evaluated. The patients were assessed mainly for clinical, neurological, psychiatric and EEG status. We performed FISH for all patients. All patients had a deletion of the long arm of chromosome 7 (7q 11.23). All had elfin facies. Neurological examination revealed hypotonia in 25% of patients and rigidity (12.50%), brisk deep tendon reflexes (25%), abnormal plantar response (12.50%). Cerebellar and extrapyramidal signs were frequent: dysmetria (31.25%), dysdiadochokinesia (31.25%) and ataxia (18.75%). Epileptic seizures were present in 31.25% of patients and ADHD (37.5%). Autism was present in one patient. EEG abnormalities were present in 31.25%. Congenital cardiopathies were present in 62.50%. Our data showed that WBS children had multi-systemic clinical complications and the management of those patients requires the pediatrician to understand the natural course of this condition, awareness of potential medical problems, and periodic baseline clinical, neuropsychiatric evaluations, monitoring, and rapid intervention to improve the medical care for patients who have WBS. Copyright © 2013 Elsevier B.V. All rights reserved.

  1. A muscle-specific knockout implicates nuclear receptor coactivator MED1 in the regulation of glucose and energy metabolism.

    Science.gov (United States)

    Chen, Wei; Zhang, Xiaoting; Birsoy, Kivanc; Roeder, Robert G

    2010-06-01

    As conventional transcriptional factors that are activated in diverse signaling pathways, nuclear receptors play important roles in many physiological processes that include energy homeostasis. The MED1 subunit of the Mediator coactivator complex plays a broad role in nuclear receptor-mediated transcription by anchoring the Mediator complex to diverse promoter-bound nuclear receptors. Given the significant role of skeletal muscle, in part through the action of nuclear receptors, in glucose and fatty acid metabolism, we generated skeletal muscle-specific Med1 knockout mice. Importantly, these mice show enhanced insulin sensitivity and improved glucose tolerance as well as resistance to high-fat diet-induced obesity. Furthermore, the white muscle of these mice exhibits increased mitochondrial density and expression of genes specific to type I and type IIA fibers, indicating a fast-to-slow fiber switch, as well as markedly increased expression of the brown adipose tissue-specific UCP-1 and Cidea genes that are involved in respiratory uncoupling. These dramatic results implicate MED1 as a powerful suppressor in skeletal muscle of genetic programs implicated in energy expenditure and raise the significant possibility of therapeutical approaches for metabolic syndromes and muscle diseases through modulation of MED1-nuclear receptor interactions.

  2. Putative neuroprotective agents in neuropsychiatric disorders.

    Science.gov (United States)

    Dodd, Seetal; Maes, Michael; Anderson, George; Dean, Olivia M; Moylan, Steven; Berk, Michael

    2013-04-05

    In many individuals with major neuropsychiatric disorders including depression, bipolar disorder and schizophrenia, their disease characteristics are consistent with a neuroprogressive illness. This includes progressive structural brain changes, cognitive and functional decline, poorer treatment response and an increasing vulnerability to relapse with chronicity. The underlying molecular mechanisms of neuroprogression are thought to include neurotrophins and regulation of neurogenesis and apoptosis, neurotransmitters, inflammatory, oxidative and nitrosative stress, mitochondrial dysfunction, cortisol and the hypothalamic-pituitary-adrenal axis, and epigenetic influences. Knowledge of the involvement of each of these pathways implies that specific agents that act on some or multiple of these pathways may thus block this cascade and have neuroprotective properties. This paper reviews the potential of the most promising of these agents, including lithium and other known psychotropics, aspirin, minocycline, statins, N-acetylcysteine, leptin and melatonin. These agents are putative neuroprotective agents for schizophrenia and mood disorders. Copyright © 2012 Elsevier Inc. All rights reserved.

  3. The course of neuropsychiatric symptoms in community-dwelling patients with dementia: a systematic review

    NARCIS (Netherlands)

    Borsje, P.; Wetzels, R.B.; Lucassen, P.L.; Pot, A.M.; Koopmans, R.T.

    2015-01-01

    Background: Neuropsychiatric symptoms (NPS) often occur in patients with dementia. Understanding the course of NPS in dementia is important for healthcare professionals for psycho-educational purposes and adequate and timely interventions to prevent or diminish NPS as much as possible. Methods: We

  4. Akupunktur til patienten med kvalme og opkastning i forbindelse med kemoterapi - er der evidens for dette?

    DEFF Research Database (Denmark)

    Pedersen, Birgith; Sørensen, Lene Bundgaard; Stricker, Lisbeth

    2008-01-01

      Patienter, der får kemoterapi med højemetogene stoffer lider stadig af kvalme og opkastning trods understøttende behandling med moderne antieemtika som 5HT3-antagonister eksempelvis ondansetron. Akupunkturstimulation anvendes for flere lidelser i sundhedsvæsenet og det undersøges om der er evid...

  5. The genetic architecture of pediatric cognitive abilities in the Philadelphia Neurodevelopmental Cohort

    Science.gov (United States)

    Robinson, Elise B.; Kirby, Andrew; Ruparel, Kosha; Yang, Jian; McGrath, Lauren; Anttila, Verneri; Neale, Benjamin M.; Merikangas, Kathleen; Lehner, Thomas; Sleiman, Patrick M.A.; Daly, Mark J.; Gur, Ruben; Gur, Raquel; Hakonarson, Hakon

    2014-01-01

    The objective of this analysis was to examine the genetic architecture of diverse cognitive abilities in children and adolescents, including the magnitude of common genetic effects and patterns of shared and unique genetic influences. Subjects included 3,689 members of the Philadelphia Neurodevelopmental Cohort, a general population sample of ages 8-21 years who completed an extensive battery of cognitive tests. We used genome-wide complex trait analysis (GCTA) to estimate the SNP-based heritability of each domain, as well as the genetic correlation between all domains that showed significant genetic influence. Several of the individual domains suggested strong influence of common genetic variants (e.g. reading ability, h2g=0.43, p=4e-06; emotion identification, h2g=0.36, p=1e-05; verbal memory, h2g=0.24, p=0.005). The genetic correlations highlighted trait domains that are candidates for joint interrogation in future genetic studies (e.g. language reasoning and spatial reasoning, r(g)=0.72, p=0.007). These results can be used to structure future genetic and neuropsychiatric investigations of diverse cognitive abilities. PMID:25023143

  6. Technical development of PubMed Interact: an improved interface for MEDLINE/PubMed searches

    OpenAIRE

    Muin, Michael; Fontelo, Paul

    2006-01-01

    Abstract Background The project aims to create an alternative search interface for MEDLINE/PubMed that may provide assistance to the novice user and added convenience to the advanced user. An earlier version of the project was the 'Slider Interface for MEDLINE/PubMed searches' (SLIM) which provided JavaScript slider bars to control search parameters. In this new version, recent developments in Web-based technologies were implemented. These changes may prove to be even more valuable in enhanci...

  7. Neuropsychiatric Features of a Cohort of Patients with Systemic Lupus Erythematosus

    Science.gov (United States)

    Moraes-Fontes, Maria Francisca; Lúcio, Isabel; Santos, Céu; Campos, Maria Manuel; Riso, Nuno; Vaz Riscado, Manuel

    2012-01-01

    In order to establish if neuropsychiatric systemic lupus erythematosus (NPSLE) can be identified by any characteristic other than those used to diagnose the neuropsychiatric (NP) disease itself, we retrospectively reviewed 98 systemic lupus erythematosus (SLE) patients followed over a mean period of 10 years. NPSLE was identified in 22 patients. Stroke and generalized seizures were the most frequent NP manifestations. The NPSLE and non-NPSLE groups were similar with regard to demographic characteristics, ACR criteria, serum autoantibodies, and frequency of hypertension and hypercholesterolemia. Of note, compared to the non-NPSLE group, NPSLE was associated with a higher frequency of smoking (78 versus 26%), organ damage (73 versus 34%), and cumulative mortality rate (14 versus 7%). The series of patients was further analysed according to the presence of antiphospholipid syndrome (APS). Significantly, the interval between the onset of NP disease and SLE diagnosis was shorter in the APS− (0.3 ± 1 years) than in the APS+ (5 ± 7 years) groups. Recurrence and/or persistence of NP events were only documented in the APS− group. Overall cumulative mortality was highest in NPSLE and in APS+ patients with inadequate anticoagulation control, identifying an aspect that requires improved vigilance and the development of novel therapeutic modalities. PMID:23227358

  8. Glucocorticoid mechanisms of functional connectivity changes in stress-related neuropsychiatric disorders

    Directory of Open Access Journals (Sweden)

    Baila S. Hall

    2015-01-01

    Full Text Available Stress—especially chronic, uncontrollable stress—is an important risk factor for many neuropsychiatric disorders. The underlying mechanisms are complex and multifactorial, but they involve correlated changes in structural and functional measures of neuronal connectivity within cortical microcircuits and across neuroanatomically distributed brain networks. Here, we review evidence from animal models and human neuroimaging studies implicating stress-associated changes in functional connectivity in the pathogenesis of PTSD, depression, and other neuropsychiatric conditions. Changes in fMRI measures of corticocortical connectivity across distributed networks may be caused by specific structural alterations that have been observed in the prefrontal cortex, hippocampus, and other vulnerable brain regions. These effects are mediated in part by glucocorticoids, which are released from the adrenal gland in response to a stressor and also oscillate in synchrony with diurnal rhythms. Recent work indicates that circadian glucocorticoid oscillations act to balance synapse formation and pruning after learning and during development, and chronic stress disrupts this balance. We conclude by considering how disrupted glucocorticoid oscillations may contribute to the pathophysiology of depression and PTSD in vulnerable individuals, and how circadian rhythm disturbances may affect non-psychiatric populations, including frequent travelers, shift workers, and patients undergoing treatment for autoimmune disorders.

  9. Genetics Home Reference: rhizomelic chondrodysplasia punctata

    Science.gov (United States)

    ... 1: report of mutations in 3 children from India. J Appl Genet. 2010;51(1):107-10. doi: 10.1007/BF03195717. Citation on PubMed Steinberg SJ, Dodt G, Raymond GV, Braverman NE, Moser AB, Moser HW. Peroxisome biogenesis disorders. Biochim ...

  10. Grateful Med: getting started.

    Science.gov (United States)

    Shearer, B; McCann, L; Crump, W J

    1990-01-01

    When a local medical library is not available, it is often necessary for physicians to discover alternate ways to receive medical information. Rural physicians, particularly, can make use of a computer program called Grateful Med that provides access to the same literature available to physicians in large cities. This program permits the user to perform database searches on the National Library of Medicine database (MEDLINE), corresponding to the primary index to medical literature, Index Medicus. In this article, we give the procedure for procuring a National Library of Medicine password and for making efficient use of the Grateful Med program.

  11. Human melioidosis reported by ProMED.

    Science.gov (United States)

    Nasner-Posso, Katherinn Melissa; Cruz-Calderón, Stefania; Montúfar-Andrade, Franco E; Dance, David A B; Rodriguez-Morales, Alfonso J

    2015-06-01

    There are limited sources describing the global burden of emerging diseases. A review of human melioidosis reported by ProMED was performed and the reliability of the data retrieved assessed in comparison to published reports. The effectiveness of ProMED was evaluated as a source of epidemiological data by focusing on melioidosis. Using the keyword 'melioidosis' in the ProMED search engine, all of the information from the reports and collected data was reviewed using a structured form, including the year, country, gender, occupation, number of infected individuals, and number of fatal cases. One hundred and twenty-four entries reported between January 1995 and October 2014 were identified. A total of 4630 cases were reported, with death reported in 505 cases, suggesting a misleadingly low overall case fatality rate (CFR) of 11%. Of 20 cases for which the gender was reported, 12 (60%) were male. Most of the cases were reported from Australia, Thailand, Singapore, Vietnam, and Malaysia, with sporadic reports from other countries. Internet-based reporting systems such as ProMED are useful to gather information and synthesize knowledge on emerging infections. Although certain areas need to be improved, ProMED provided good information about melioidosis. Copyright © 2015 The Authors. Published by Elsevier Ltd.. All rights reserved.

  12. On the application of positron computed tomography to neuro-psychiatric diseases

    International Nuclear Information System (INIS)

    Kodama, Kazuhiro; Tateno, Yukio; Shishido, Fumio.

    1983-01-01

    Reports on the application of positron CT (PCT) to neuropsychiatric diseases were introduced, and this method was compared with conventional methods for the measurement of cerebral circulation/metabolism and with XCT. Currently, PCT is used in physiological study, the study of the intracranial distribution of chlorpromazine and measurements of the cerebral flow rate, glucose consumption and oxygen consumption in patients with Hungtinton's chorea, dimentia, epilepsy and schizophrenia. Their new data are available. (Chiba, N.)

  13. MED-SUV Data Life Cycle

    Science.gov (United States)

    Sangianantoni, Agata; Puglisi, Giuseppe; Spampinato, Letizia; Tulino, Sabrina

    2015-04-01

    The MED-SUV project aims to implement a digital e-infrastructure for data access in order to promote the monitoring and study of key volcanic regions prone to volcanic hazards, and thus improve hazard assessment, according to the rationale of Supersite GEO initiative to Vesuvius- Campi Flegrei and Mt Etna, currently identified as Permanent Supersites. The present study focuses on the life cycle of MED-SUV data generated in the first period of the project and highlights the managing approach, as well as the crucial steps to be implemented for ensuring that data will be properly and ethically managed and can be used and accessed from both MED-SUV and the external community. The process is conceived outlining how research data being handled as the project progresses, describing what data are collected, processed or generated and how these data are going to be shared and made available through Open Access. Data cycle begins with their generation and ends with the deposit in the digital infrastructure, its key series of stages through which MED-SUV data passes are Collection, Data citation, Categorization of data, Approval procedure, Registration of datasets, Application of licensing models, and PID assignment. This involves a combination of procedures and practices taking into account the scientific core mission and the priorities of the project as well as the potential legal issues related to the management and protection of the Intellectual Property. We believe that the implementation of this process constitutes a significant encouragement in MED-SUV data sharing and as a consequence a better understanding on the volcanic processes, hazard assessment and a better integration with other Supersites projects.

  14. Detection of endogenous lithium in neuropsychiatric disorders--a model for biological transmutation.

    Science.gov (United States)

    Kurup, Ravi Kumar; Kurup, Parameswara Achutha

    2002-01-01

    The human hypothalamus produces an endogenous membrane Na(+)-K(+) ATPase inhibitor, digoxin. A digoxin induced model of cellular/neuronal quantal state and perception has been described by the authors. Biological transmutation has been described in microbial systems in the quantal state. The study focuses on the plasma levels of digoxin, RBC membrane Na(+)-K(+) ATPase activity, plasma levels of magnesium and lithium in neuropsychiatric and systemic disorders. Inhibition of RBC membrane Na(+)-K(+) ATPase activity was observed in most cases along with an increase in the levels of serum digoxin and lithium and a decrease in the level of serum Mg(++). The generation of endogenous lithium would obviously occur due to biological transmutation from magnesium. Digoxin and lithium together can produce added membrane Na(+)-K(+) ATPase inhibition. The role of membrane Na(+)-K(+) ATPase inhibition in the pathogenesis of neuropsychiatric and systemic disorders is discussed. The inhibition of membrane Na(+)-K(+) ATPase can contribute to an increase in intracellular calcium and a decrease in magnesium, which can result in a defective neurotransmitter transport mechanism, mitochondrial dysfunction and apoptosis, defective golgi body function and protein processing dysfunction, immune dysfunction and oncogenesis. Copyright 2002 John Wiley & Sons, Ltd.

  15. Genetics Home Reference: chronic myeloid leukemia

    Science.gov (United States)

    ... Central Quintás-Cardama A, Cortes JE. Chronic myeloid leukemia: diagnosis and treatment. Mayo Clin Proc. 2006 Jul;81(7):973-88. Review. Citation on PubMed Skorski T. Genetic mechanisms of chronic myeloid leukemia blastic transformation. Curr Hematol Malig Rep. 2012 Jun; ...

  16. Genetics Home Reference: alcohol use disorder

    Science.gov (United States)

    ... use disorder can cause major health, social, and economic problems, and can endanger affected individuals and others ... Available from http://www.ncbi.nlm.nih.gov/books/NBK424857/ Citation on PubMed Zhu EC, Soundy TJ, ... Bulletins Genetics Home Reference Celebrates Its 15th Anniversary ...

  17. The Arabidopsis Mediator Complex Subunits MED16, MED14, and MED2 Regulate Mediator and RNA Polymerase II Recruitment to CBF-Responsive Cold-Regulated Genes[C][W][OPEN

    Science.gov (United States)

    Hemsley, Piers A.; Hurst, Charlotte H.; Kaliyadasa, Ewon; Lamb, Rebecca; Knight, Marc R.; De Cothi, Elizabeth A.; Steele, John F.; Knight, Heather

    2014-01-01

    The Mediator16 (MED16; formerly termed SENSITIVE TO FREEZING6 [SFR6]) subunit of the plant Mediator transcriptional coactivator complex regulates cold-responsive gene expression in Arabidopsis thaliana, acting downstream of the C-repeat binding factor (CBF) transcription factors to recruit the core Mediator complex to cold-regulated genes. Here, we use loss-of-function mutants to show that RNA polymerase II recruitment to CBF-responsive cold-regulated genes requires MED16, MED2, and MED14 subunits. Transcription of genes known to be regulated via CBFs binding to the C-repeat motif/drought-responsive element promoter motif requires all three Mediator subunits, as does cold acclimation–induced freezing tolerance. In addition, these three subunits are required for low temperature–induced expression of some other, but not all, cold-responsive genes, including genes that are not known targets of CBFs. Genes inducible by darkness also required MED16 but required a different combination of Mediator subunits for their expression than the genes induced by cold. Together, our data illustrate that plants control transcription of specific genes through the action of subsets of Mediator subunits; the specific combination defined by the nature of the stimulus but also by the identity of the gene induced. PMID:24415770

  18. Human iPSC-derived neurons and lymphoblastoid cells for personalized medicine research in neuropsychiatric disorders.

    Science.gov (United States)

    Gurwitz, David

    2016-09-01

    The development and clinical implementation of personalized medicine crucially depends on the availability of high-quality human biosamples; animal models, although capable of modeling complex human diseases, cannot reflect the large variation in the human genome, epigenome, transcriptome, proteome, and metabolome. Although the biosamples available from public biobanks that store human tissues and cells may represent the large human diversity for most diseases, these samples are not always sufficient for developing biomarkers for patient-tailored therapies for neuropsychiatric disorders. Postmortem human tissues are available from many biobanks; nevertheless, collections of neuronal human cells from large patient cohorts representing the human diversity remain scarce. Two tools are gaining popularity for personalized medicine research on neuropsychiatric disorders: human induced pluripotent stem cell-derived neurons and human lymphoblastoid cell lines. This review examines and contrasts the advantages and limitations of each tool for personalized medicine research.

  19. Tandlæger og personer med en spiseforstyrrelse

    DEFF Research Database (Denmark)

    Gehrt, Charlotte Astrid; Christensen, Lisa Bøge; Klinker, Sabine

    2016-01-01

    Mødet mellem tandlæge og patient med spiseforstyrrelse Introduktion og formål: Det er velkendt, at tandlæger kan spille en rolle i forhold til tidlig identifikation af en spiseforstyrrelse. Der erimidlertid begrænset viden om, hvilke forventninger tandlæger og personer med en spiseforstyrrelse har...... til mødet med hinanden i klinikken, og hvordan dette opleves. Undersøgelsens formål var derfor at få viden om mødet mellem tandlæger og personer med en spiseforstyrrelse. Materialer og metoder: Undersøgelsen var en tværsnitsundersøgelse baseret på to spørgeskemaer udarbejdet til henholdsvis tandlæger...... og personer med en spiseforstyrrelse. I alt 1.405 tandlæger deltog, mens 260 personer med en spiseforstyrrelse besvarede spørgeskemaet. Resultater: Tandlægerne havde større selvrapporteret viden om orale komplikationer ved en spiseforstyrrelse end om spiseforstyrrelser generelt. Størstedelen af...

  20. Zolpidem improves neuropsychiatric symptoms and motor dysfunction in a patient with Parkinson's disease after deep brain stimulation.

    Science.gov (United States)

    Huang, Hung-Yu; Hsu, Yi-Ting; Wu, Yu-Chin; Chiou, Shang-Ming; Kao, Chia-Hung; Tsai, Mu-Chieh; Tsai, Chon-Haw

    2012-06-01

    To illustrate the beneficial effect of zolpidem on the neuropsychiatric and motor symptoms in a patient with Parkinson disease (PD) after bilateral subthalamic nucleus deep brain stimulation. The 61-year-old housewife was diagnosed to have PD for 12 years with initial presentation of clumsiness and rest tremor of right limbs. She was referred to our hospital in March 2009 due to shortening of drug beneficial period since 3 years ago and on-phase dyskinesia in recent 2 years. Bilateral STN DBS was conducted on 18 June, 2009. Fluctuating spells of mental confusion were developed on the next day after surgery. Electric stimuli via DBS electrodes were delivered with parameters of 2 volts, 60 μs, 130 Hz on bilateral STN 32 days after DBS. The incoherent behaviors and motor fluctuation remained to occur. The beneficial effect of zolpidem on her neuropsychiatric and motor symptoms was detected incidentally in early July 2009. She could chat normally with her caregiver and walk with assistance after taking zolpidem. The beneficial period may last for 2 hours. Zolpidem was then given in dosage of 10 mg three times per day. The neuropsychiatric inventory was scored 56 during zolpidem 'off' and 30 during zolpidem 'on'. To understand the intriguing feature, we conducted FDG-PET during 'off' and 'on' zolpidem conditions. The results revealed that the metabolism was decreased in the right frontal, parietal cortex and caudate nucleus during zolpidem 'off'. These cool spots can be partially restored by zolpidem. Zolpidem ameliorated the neuropsychiatric and parkinsonian motor symptom in the PD patient. Since GABAA benzodiazepine receptors are widely distributed throughout the central nervous system, zolpidem probably acts via modulating structures lying within the cortico-subcortical loop or by direct effect on these cortical regions.

  1. Oseltamivir and Neuropsychiatric Behaviors – A Case Report on an Adolescent Teen and Evaluation of the Literature

    Directory of Open Access Journals (Sweden)

    Tsz-Yin SO

    2009-11-01

    Full Text Available OBJECTIVE: To illustrate a case of oseltamivir induced neuropsychiatric behaviors in an adolescent teen. CASE SUMMARY: A 15-year-old previously healthy adolescent presented to the emergency department with acute onset of altered mental status after taking two doses of oseltamivir prescribed to him by his primary care physician for presumed influenza infection. A thorough examination at the hospital, which included a urine drug screen, complete blood count, complete metabolic panel, urine and blood cultures, head computed tomography, and chest radiograph, did not indicate any other clinical conditions that could explain his abnormal behaviors. No other medications were given to him in the hospital. About 20 hours after the last dose of oseltamivir, he awoke from a nap and his mental status was completely back to baseline. He had no memory of the events transpired in the past 24 hours and was discharged home with no further incidence.DISSCUSION: Oseltamivir is an anti-viral agent that is often used as treatment and prophylaxis for influenza infection. Neuropsychiatric adverse events such as hallucination and delirium can potentially occur with this agent. This rare adverse event may be due to the binding of the medication to the enzyme sialidase causing increase in dopamine activity. Most of the reports were in young Japanese children less than 16 years old. Some studies have shown a causal relationship with oseltamivir leading to this adverse event, while some have failed to do so, probably due to flaws in their analytical method. The Naranjo ADR probability scale showed a possible causality between neuropsychiatric behaviors and oseltamivir administration in this patient.CONCLUSIONS: Oseltamivir is an effective anti-viral for influenza infection if started early in the course of the illness. Clinicians should monitor for neuropsychiatric symptoms when starting patients on this medication.

  2. The effects of participation in leisure activities on neuropsychiatric symptoms of persons with cognitive impairment: a cross-sectional study.

    Science.gov (United States)

    Chiu, Yi-Chen; Huang, Chien-Ying; Kolanowski, Ann M; Huang, Hsiu-Li; Shyu, Yeaing Lotus; Lee, Shu-Hwa; Lin, Ching-Rong; Hsu, Wen-Chuin

    2013-10-01

    People with cognitive impairment have been shown to engage in few structured activities. During periods of unoccupied time or boredom, these patients most likely manifest neuropsychiatric symptoms. The purposes of this study were to (1) describe the leisure-activity indicators (variety in leisure activities, appraisal of each activity's restorative function, and leisure dysfunction, i.e. failure to appreciate the importance of restorative aspects of leisure activity), of community-dwelling older Taiwanese adults with cognitive impairment, and (2) explore the relationships between these indicators and neuropsychiatric symptoms in this population. Cross-sectional. Memory disorder and geriatric psychiatric clinics of two hospitals in northern Taiwan. Patient-family caregiver dyads (N=60). Patients' dementia severity, based on Clinical Dementia Rating scores, was 0.5-2.0. Family caregivers completed the Chinese Neuropsychiatric Inventory to assess patients' behavioral problems and the Restorative Activity Questionnaire to assess patients' participation in leisure activities, restorative experience, and leisure dysfunction. On average, patients participated in approximately five individual leisure activities, but very few group leisure activities. The top three leisure activities were watching TV, taking a walk, and talking to relatives and friends. The leisure activities in which participants least commonly engaged were fishing, attending cultural exhibitions, and chess/card playing. All leisure-activity indicators were significantly correlated with disease stage, global cognitive function, and neuropsychiatric symptoms. Two leisure-activity indicators (leisure dysfunction and restorative experiences) were significantly correlated with depressive symptoms. Only leisure dysfunction significantly and consistently predicted neuropsychiatric symptoms. These results can be used by home health or community health nurses to design tailored leisure-activity plans for improving

  3. Neuropsychiatric symptoms and PET imaging characteristics in patients with Parkinson-plus syndromes

    Directory of Open Access Journals (Sweden)

    Miao ZHANG

    2017-01-01

    Full Text Available Objective To explore the neuropsychiatric symptoms and 18F-fluoro-2-deoxy-D-glucose (18F-FDG PET imaging features of Parkinson-plus syndromes. Methods There were 8 patients with probable Parkinson-plus syndromes, including one case of multiple system atrophy-cerebellar predominant (MSA-C, 4 cases of progressive supranuclear palsy (PSP, one case of corticobasal ganglionic degeneration (CBD and 2 cases of dementia with Lewy bodies (DLB. Mini-Mental State Examination (MMSE and Montreal Cognitive Assessment (MoCA were used to evaluate cognitive function, Neuropsychiatric Inventory (NPI was used to evaluate neuropsychiatric behaviors, and Hamilton Depression Rating Scale-21 Items (HAMD-21 was used to evaluate the emotional state of patients. Results One MSA-C patient showed only anxiety. Four PSP patients showed different degrees of cognitive disorders, of whom 3 cases also presented obvious depression, anxiety, irritability and sleep disorders. One case of CBD showed dysfunction in executive function, visual spatial ability, verbal function, attention and orientation, as well as depression, anxiety, irritability and sleep disorders. Two cases of DLB were found unable to copy pentagon in MMSE chart or draw a circle in Clock Drawing Test (CDT, and they also presented hallucination, depression and indifference. As for the result of 18F-FDG PET, one MSA-C patient showed cerebellarglucose hypometabolism; 4 PSP patients showed hypometabolism in bilateral symmetrical frontal lobes, anterior cingulate gyrus and parietal lobe, especially in thalamus, basal ganglia region and brain stem; one case of CBD showed hypometabolism in right lateral fronto-temporo-parieto-occipital lobes, left lateral parietal lobe, bilateral cingulate gyri and precuneus; 2 cases of DLB showed hypometabolism in bilateral temporo-occipital lobes. Conclusions Patients with early Parkinson-plus syndromes are easily misdiagnosed as mental illness and delayed treatment, in addition, their

  4. Hvad skal vi med Etisk Råd?

    DEFF Research Database (Denmark)

    Ploug, Thomas; Gjerris, Mickey

    2012-01-01

    Det Etiske Råd har for os at se en væsentlig rolle at spille i et åbent og demokratisk samfund som det danske. Vi skal være med til at skabe grobund for de værdidiskussioner, som skal forme fremtidens samfund. Etik er at være i dialog – ikke at kaste med mudder.......Det Etiske Råd har for os at se en væsentlig rolle at spille i et åbent og demokratisk samfund som det danske. Vi skal være med til at skabe grobund for de værdidiskussioner, som skal forme fremtidens samfund. Etik er at være i dialog – ikke at kaste med mudder....

  5. Nitrated nucleosome levels and neuropsychiatric events in systemic lupus erythematosus;

    DEFF Research Database (Denmark)

    Ferreira, Isabel; Croca, Sara; Raimondo, Maria Gabriella

    2017-01-01

    BACKGROUND: In patients with systemic lupus erythematosus (SLE) there is no serological test that will reliably distinguish neuropsychiatric (NP) events due to active SLE from those due to other causes. Previously we showed that serum levels of nitrated nucleosomes (NN) were elevated in a small...... number of patients with NPSLE. Here we measured serum NN in samples from a larger population of patients with SLE and NP events to see whether elevated serum NN could be a marker for NPSLE. METHODS: We obtained serum samples from patients in the Systemic Lupus International Collaborative Clinics (SLICC...

  6. OvidSP Medline-to-PubMed search filter translation: a methodology for extending search filter range to include PubMed's unique content.

    Science.gov (United States)

    Damarell, Raechel A; Tieman, Jennifer J; Sladek, Ruth M

    2013-07-02

    PubMed translations of OvidSP Medline search filters offer searchers improved ease of access. They may also facilitate access to PubMed's unique content, including citations for the most recently published biomedical evidence. Retrieving this content requires a search strategy comprising natural language terms ('textwords'), rather than Medical Subject Headings (MeSH). We describe a reproducible methodology that uses a validated PubMed search filter translation to create a textword-only strategy to extend retrieval to PubMed's unique heart failure literature. We translated an OvidSP Medline heart failure search filter for PubMed and established version equivalence in terms of indexed literature retrieval. The PubMed version was then run within PubMed to identify citations retrieved by the filter's MeSH terms (Heart failure, Left ventricular dysfunction, and Cardiomyopathy). It was then rerun with the same MeSH terms restricted to searching on title and abstract fields (i.e. as 'textwords'). Citations retrieved by the MeSH search but not the textword search were isolated. Frequency analysis of their titles/abstracts identified natural language alternatives for those MeSH terms that performed less effectively as textwords. These terms were tested in combination to determine the best performing search string for reclaiming this 'lost set'. This string, restricted to searching on PubMed's unique content, was then combined with the validated PubMed translation to extend the filter's performance in this database. The PubMed heart failure filter retrieved 6829 citations. Of these, 834 (12%) failed to be retrieved when MeSH terms were converted to textwords. Frequency analysis of the 834 citations identified five high frequency natural language alternatives that could improve retrieval of this set (cardiac failure, cardiac resynchronization, left ventricular systolic dysfunction, left ventricular diastolic dysfunction, and LV dysfunction). Together these terms reclaimed

  7. The Tourette International Collaborative Genetics (TIC Genetics) study, finding the genes causing Tourette syndrome: objectives and methods.

    Science.gov (United States)

    Dietrich, Andrea; Fernandez, Thomas V; King, Robert A; State, Matthew W; Tischfield, Jay A; Hoekstra, Pieter J; Heiman, Gary A

    2015-02-01

    Tourette syndrome (TS) is a neuropsychiatric disorder characterized by recurrent motor and vocal tics, often accompanied by obsessive-compulsive disorder and/or attention-deficit/hyperactivity disorder. While the evidence for a genetic contribution is strong, its exact nature has yet to be clarified fully. There is now mounting evidence that the genetic risks for TS include both common and rare variants and may involve complex multigenic inheritance or, in rare cases, a single major gene. Based on recent progress in many other common disorders with apparently similar genetic architectures, it is clear that large patient cohorts and open-access repositories will be essential to further advance the field. To that end, the large multicenter Tourette International Collaborative Genetics (TIC Genetics) study was established. The goal of the TIC Genetics study is to undertake a comprehensive gene discovery effort, focusing both on familial genetic variants with large effects within multiply affected pedigrees and on de novo mutations ascertained through the analysis of apparently simplex parent-child trios with non-familial tics. The clinical data and biomaterials (DNA, transformed cell lines, RNA) are part of a sharing repository located within the National Institute for Mental Health Center for Collaborative Genomics Research on Mental Disorders, USA, and will be made available to the broad scientific community. This resource will ultimately facilitate better understanding of the pathophysiology of TS and related disorders and the development of novel therapies. Here, we describe the objectives and methods of the TIC Genetics study as a reference for future studies from our group and to facilitate collaboration between genetics consortia in the field of TS.

  8. Ti år med formidlingspligt

    DEFF Research Database (Denmark)

    Meyer, Gitte

    2014-01-01

    Jubilæet blev markeret ved et symposium - men hvor var journalisterne, og hvor var forskerne? For få uger siden lagde TV 2 hus til et symposium om videnskab, formidling, journalistik og spin. Danske Videnskabsjournalister og Akademiet for de Tekniske Videnskaber tog med arrangementet et behjertet...... initiativ. De ville gøre status efter ti år med lovfæstet formidlingspligt på universiteterne. Samtidig lagde de op til et kritisk blik på universitetsverdenens kommunikationsafdelinger...

  9. Bygningsdele med celluloseuld og høruld

    DEFF Research Database (Denmark)

    Hansen, Ernst Jan de Place

    2001-01-01

    Resume af rapport med eksempler på bygningsdele med papir- eller hørisolering, der overholder bygningsreglementerne, udarbejdet af Dansk Brandteknisk Institut under Energistyrelsens udviklingsprogram "Miljø- og arbejdsmiljøvenlig isolering"...

  10. Accuracy of neuropsychological tests and the Neuropsychiatric Inventory in differential diagnosis between Frontotemporal dementia and Alzheimer's disease

    Directory of Open Access Journals (Sweden)

    Valéria Santoro Bahia

    Full Text Available Abstract The differential diagnosis between frontotemporal dementia (FTD and Alzheimer's disease (AD is sometimes difficult. Objectives: To verify the accuracy of neuropsychological tests and a behavioral disorders scale in the differential diagnosis between FTLD and AD. Methods: Retrospective data on 12 FTD patients and 12 probable AD patients were analyzed. The scores on neuropsychological tests (MMSE score, reverse digit span, delayed recall for drawings, semantic fluency of animals and the Neuropsychiatric Inventory (NPI in both groups were compared. Results: Both groups had similar performance on neuropsychological tests. All FTD patients and 50% of AD patients had neuropsychiatric abnormalities. The NPI score was 58.0±19.3 for the FTD patients, and 3.6±4.7 for the AD patients (p<0.01. Using a NPI cut-off score of 13, the sensitivity and specificity were 100% in this sample. The four most common neuropsychiatric disturbances in FTD patients were: apathy, aberrant motor behavior, disinhibition and eating abnormalities. Apathy and dysphoria/depression were the most common behavioral symptoms among the AD patients. Conclusions: In this study, NPI was found to be a useful tool for the differential diagnosis between FTD and AD. The neuropsychological tests commonly used in the medical office were unable to distinguish between the two groups.

  11. Neuropsychiatric symptoms and quality of life in patients in the final phase of dementia.

    NARCIS (Netherlands)

    Koopmans, R.T.C.M.; Molen, M. van der; Raats, M.; Ettema, T.P.

    2009-01-01

    OBJECTIVES: To assess neuropsychiatric symptoms and quality of life in a group of patients in the final phase of dementia. METHODS: All patients with dementia (n = 216) residing on dementia special care units of two Dutch nursing homes were included in the study provided they met the criteria for

  12. Social indsats til borgere med erfaring fra salg af sex

    DEFF Research Database (Denmark)

    Mehlsen, Line; Amilon, Anna; Henriksen, Theresa Dyrvig

    2017-01-01

    Formålet med denne guide er at give endnu flere kommuner inspiration og vejledning til, hvordan man kan implementere og arbejde med CTI-forløb over for borgere med prostitutionserfaring. Manglende viden om borgere med prostitutionserfaringer gør det svært for kommunerne at hjælpe borgerne med de ...

  13. Specifik mutation med nålestiksoperation

    DEFF Research Database (Denmark)

    Holme, Inger; Wendt, Toni; Brinch-Pedersen, Henrik

    2014-01-01

    Mutanter af byg er vigtige i forskningen og benyttes også, når der forædles nye sorter til dyrkning. Hidtil har det kun været muligt at inducere mutationer tilfældige steder i genomet. Med helt ny teknologi benyttes proteiner med betegnelsen TALENs til at inducere mutationer i helt specifikke...

  14. Med sjefen på Facebook: En studie av ledere som er "venner" med sine ansatte

    OpenAIRE

    Jensen, Anita

    2014-01-01

    MR690 Masteroppgave i organisasjon og ledelse - utdanningsledelse Formålet med studien er å belyse hvordan aktiv bruk av sosiale medier, i dette tilfellet Facebook, påvirker relasjoner mellom mennesker. Hva skjer når en tar i bruk en websjanger som i utgangspunktet er umiddelbar og uformell, til jobbrelatert og mer formell kommunikasjon? Er det sjangeren eller relasjonen som endres? Søkelyset rettes mot ledere som er “venner” med sine medarbeidere, og problemstillingen er...

  15. Geograf med GIS som ledetråd

    DEFF Research Database (Denmark)

    Nielsen, Søren Zebitz

    2013-01-01

    Fra speciale om kortlægning af luft forurening med NO2 i troposfæren målt fra satellit til PhD studerende med fokus på forståelsen af menneskers bevægelsesmønstre i byer. GIS og geodata er den røde tråd der binder de brede interesser indenfor geografi en sammen for denne forskerlærling.......Fra speciale om kortlægning af luft forurening med NO2 i troposfæren målt fra satellit til PhD studerende med fokus på forståelsen af menneskers bevægelsesmønstre i byer. GIS og geodata er den røde tråd der binder de brede interesser indenfor geografi en sammen for denne forskerlærling....

  16. PubMed searches: overview and strategies for clinicians.

    Science.gov (United States)

    Lindsey, Wesley T; Olin, Bernie R

    2013-04-01

    PubMed is a biomedical and life sciences database maintained by a division of the National Library of Medicine known as the National Center for Biotechnology Information (NCBI). It is a large resource with more than 5600 journals indexed and greater than 22 million total citations. Searches conducted in PubMed provide references that are more specific for the intended topic compared with other popular search engines. Effective PubMed searches allow the clinician to remain current on the latest clinical trials, systematic reviews, and practice guidelines. PubMed continues to evolve by allowing users to create a customized experience through the My NCBI portal, new arrangements and options in search filters, and supporting scholarly projects through exportation of citations to reference managing software. Prepackaged search options available in the Clinical Queries feature also allow users to efficiently search for clinical literature. PubMed also provides information regarding the source journals themselves through the Journals in NCBI Databases link. This article provides an overview of the PubMed database's structure and features as well as strategies for conducting an effective search.

  17. Genetic and Clinical Characteristics of Phyllodes Tumors of the Breast

    Directory of Open Access Journals (Sweden)

    Ji-Yeon Kim

    2018-02-01

    Full Text Available PURPOSE: Phyllodes tumors (PTs of the breast are rare, accounting for less than 1% of all breast tumors. Among PTs, malignant PTs (MPTs have malignant characteristics and distant metastases occur in about 20% to 30% of MPTs. However, there is no effective treatment for MPTs with distant metastasis, resulting in an abject prognosis. We performed targeted deep sequencing on PTs to identify the associations between genetic alterations and clinical prognosis. METHODS: We performed targeted deep sequencing to evaluate the genetic characteristics of PTs and analyzed the relationships between clinical and genetic characteristics. RESULTS: A total of 17 PTs were collected between 2001 and 2012. Histologic review was performed by pathologists. The samples included three benign PTs, one borderline PT, and 13 MPTs. The most frequently detected genetic alteration occurred in the TERT promoter region (70.6%, followed by MED12 (64.7%. EGFR amplification and TP53 alteration were detected in four MPTs without genetic alterations in MED12 and TERT promoter regions. Genetic alterations of RARA and ZNF703 were repeatedly found in PTs with local recurrence, and genetic alterations of SETD2, BRCA2, and TSC1 were detected in PTs with distant metastasis. Especially, MPT harboring PTEN and RB1 copy number deletion showed rapid disease progression. CONCLUSIONS: In this study, we provide genetic characterization and potential therapeutic target for this rare, potentially lethal disease. Further large-scale comprehensive genetic study and functional validation are warranted.

  18. A study on PubMed search tag usage pattern: association rule mining of a full-day PubMed query log.

    Science.gov (United States)

    Mosa, Abu Saleh Mohammad; Yoo, Illhoi

    2013-01-09

    The practice of evidence-based medicine requires efficient biomedical literature search such as PubMed/MEDLINE. Retrieval performance relies highly on the efficient use of search field tags. The purpose of this study was to analyze PubMed log data in order to understand the usage pattern of search tags by the end user in PubMed/MEDLINE search. A PubMed query log file was obtained from the National Library of Medicine containing anonymous user identification, timestamp, and query text. Inconsistent records were removed from the dataset and the search tags were extracted from the query texts. A total of 2,917,159 queries were selected for this study issued by a total of 613,061 users. The analysis of frequent co-occurrences and usage patterns of the search tags was conducted using an association mining algorithm. The percentage of search tag usage was low (11.38% of the total queries) and only 2.95% of queries contained two or more tags. Three out of four users used no search tag and about two-third of them issued less than four queries. Among the queries containing at least one tagged search term, the average number of search tags was almost half of the number of total search terms. Navigational search tags are more frequently used than informational search tags. While no strong association was observed between informational and navigational tags, six (out of 19) informational tags and six (out of 29) navigational tags showed strong associations in PubMed searches. The low percentage of search tag usage implies that PubMed/MEDLINE users do not utilize the features of PubMed/MEDLINE widely or they are not aware of such features or solely depend on the high recall focused query translation by the PubMed's Automatic Term Mapping. The users need further education and interactive search application for effective use of the search tags in order to fulfill their biomedical information needs from PubMed/MEDLINE.

  19. Exploring the prevalence and variance of cognitive impairment, pain, neuropsychiatric symptoms and ADL dependency among persons living in nursing homes; a cross-sectional study.

    Science.gov (United States)

    Björk, Sabine; Juthberg, Christina; Lindkvist, Marie; Wimo, Anders; Sandman, Per-Olof; Winblad, Bengt; Edvardsson, David

    2016-08-22

    Earlier studies in nursing homes show a high prevalence of cognitive impairment, dependency in activities of daily living (ADL), pain, and neuropsychiatric symptoms among residents. The aim of this study was to explore the prevalence of the above among residents in a nationally representative sample of Swedish nursing homes, and to investigate whether pain and neuropsychiatric symptoms differ in relation to gender, cognitive function, ADL-capacity, type of nursing-home unit and length of stay. Cross-sectional data from 188 randomly selected nursing homes were collected. A total of 4831 residents were assessed for cognitive and ADL function, pain and neuropsychiatric symptoms. Data were analysed using descriptive statistics and the chi-square test. The results show the following: the prevalence of cognitive impairment was 67 %, 56 % of residents were ADL-dependent, 48 % exhibited pain and 92 % exhibited neuropsychiatric symptoms. The prevalence of pain did not differ significantly between male and female residents, but pain was more prevalent among cognitively impaired and ADL-dependent residents. Pain prevalence was not significantly different between residents in special care units for people with dementia (SCU) and general units, or between shorter-and longer-stay residents. Furthermore, the prevalence of neuropsychiatric symptoms did not differ significantly between male and female residents, between ADL capacities or in relation to length of stay. However, residents with cognitive impairment and residents in SCUs had a significantly higher prevalence of neuropsychiatric symptoms than residents without cognitive impairment and residents in general units. The prevalence rates ascertained in this study could contribute to a greater understanding of the needs of nursing-home residents, and may provide nursing home staff and managers with trustworthy assessment scales and benchmark values for further quality assessment purposes, clinical development work and

  20. Neuropsychiatric Model of Biological and Psychological Processes in the Remission of Delusions and Auditory Hallucinations

    NARCIS (Netherlands)

    van der Gaag, M.

    2006-01-01

    This selective review combines cognitive models and biological models of psychosis into a tentative integrated neuropsychiatric model. The aim of the model is to understand better, how pharmacotherapy and cognitive-behavior therapy come forward as partners in the treatment of psychosis and play

  1. Factors Related to Psychotropic Drug Prescription for Neuropsychiatric Symptoms in Nursing Home Residents With Dementia

    NARCIS (Netherlands)

    Smeets, Claudia H. W.; Smalbrugge, Martin; Zuidema, Sytse U.; Derksen, Els; de Vries, Erica; van der Spek, Klaas; Koopmans, Raymond T. C. M.; Gerritsen, Debby L.

    2014-01-01

    Objectives: The objective of this study is to explore factors that elucidate reasons for psychotropic drug (PD) prescription for neuropsychiatric symptoms (NPS) in nursing home (NH) residents with dementia. Design: A qualitative study using a grounded theory approach. Setting: Twelve NHs in The

  2. Impaired Functional Connectivity in the Prefrontal Cortex: A Mechanism for Chronic Stress-Induced Neuropsychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Ignacio Negrón-Oyarzo

    2016-01-01

    Full Text Available Chronic stress-related psychiatric diseases, such as major depression, posttraumatic stress disorder, and schizophrenia, are characterized by a maladaptive organization of behavioral responses that strongly affect the well-being of patients. Current evidence suggests that a functional impairment of the prefrontal cortex (PFC is implicated in the pathophysiology of these diseases. Therefore, chronic stress may impair PFC functions required for the adaptive orchestration of behavioral responses. In the present review, we integrate evidence obtained from cognitive neuroscience with neurophysiological research with animal models, to put forward a hypothesis that addresses stress-induced behavioral dysfunctions observed in stress-related neuropsychiatric disorders. We propose that chronic stress impairs mechanisms involved in neuronal functional connectivity in the PFC that are required for the formation of adaptive representations for the execution of adaptive behavioral responses. These considerations could be particularly relevant for understanding the pathophysiology of chronic stress-related neuropsychiatric disorders.

  3. Genetics Home Reference: Leber congenital amaurosis

    Science.gov (United States)

    ... correlations with genotypes, gene therapy trials update, and future directions. J AAPOS. 2009 Dec;13(6):587-92. doi: 10.1016/j.jaapos.2009.10.004. Review. Citation on PubMed Cremers FP, van den Hurk JA, den Hollander AI. Molecular genetics of Leber congenital amaurosis. Hum Mol ...

  4. Mars 2020 Entry, Descent and Landing Instrumentation (MEDLI2)

    Science.gov (United States)

    Bose, Deepak; Wright, Henry; White, Todd; Schoenenberger, Mark; Santos, Jose; Karlgaard, Chris; Kuhl, Chris; Oishi, TOmo; Trombetta, Dominic

    2016-01-01

    This paper will introduce Mars Entry Descent and Landing Instrumentation (MEDLI2) on NASA's Mars2020 mission. Mars2020 is a flagship NASA mission with science and technology objectives to help answer questions about possibility of life on Mars as well as to demonstrate technologies for future human expedition. Mars2020 is scheduled for launch in 2020. MEDLI2 is a suite of instruments embedded in the heatshield and backshell thermal protection systems of Mars2020 entry vehicle. The objectives of MEDLI2 are to gather critical aerodynamics, aerothermodynamics and TPS performance data during EDL phase of the mission. MEDLI2 builds up the success of MEDLI flight instrumentation on Mars Science Laboratory mission in 2012. MEDLI instrumentation suite measured surface pressure and TPS temperature on the heatshield during MSL entry into Mars. MEDLI data has since been used for unprecedented reconstruction of aerodynamic drag, vehicle attitude, in-situ atmospheric density, aerothermal heating, transition to turbulence, in-depth TPS performance and TPS ablation. [1,2] In addition to validating predictive models, MEDLI data has highlighted extra margin available in the MSL forebody TPS, which can potentially be used to reduce vehicle parasitic mass. MEDLI2 expands the scope of instrumentation by focusing on quantities of interest not addressed in MEDLI suite. The type the sensors are expanded and their layout on the TPS modified to meet these new objectives. The paper will provide key motivation and governing requirements that drive the choice and the implementation of the new sensor suite. The implementation considerations of sensor selection, qualification, and demonstration of minimal risk to the host mission will be described. The additional challenges associated with mechanical accommodation, electrical impact, data storage and retrieval for MEDLI2 system, which extends sensors to backshell will also be described.

  5. Folic acid, neurodegenerative and neuropsychiatric disease.

    Science.gov (United States)

    Kronenberg, Golo; Colla, Michael; Endres, Matthias

    2009-04-01

    Folic acid plays an important role in neuroplasticity and in the maintenance of neuronal integrity. Folate is a co-factor in one-carbon metabolism during which it promotes the regeneration of methionine from homocysteine, a highly reactive sulfur-containing amino acid. Methionine may then be converted to S-adenosylmethionine (SAM), the principal methyl donor in most biosynthetic methylation reactions. On the cellular level, folate deficiency and hyperhomocysteinemia exert multiple detrimental effects. These include induction of DNA damage, uracil misincorporation into DNA and altered patterns of DNA methylation. Low folate status and elevated homocysteine increase the generation of reactive oxygen species and contribute to excitotoxicity and mitochondrial dysfunction which may lead to apoptosis. Strong epidemiological and experimental evidence links derangements of one-carbon metabolism to vascular, neurodegenerative and neuropsychiatric disease, including most prominently cerebral ischemia, Alzheimer's dementia and depression. Although firm evidence from controlled clinical trials is largely lacking, B-vitamin supplementation and homocysteine reduction may have a role especially in the primary prevention of stroke and dementia as well as as an adjunct to antidepressant pharmacotherapy.

  6. Med Antony Beevor i Ardennerne

    DEFF Research Database (Denmark)

    Christensen, Claus Bundgård

    2015-01-01

    Den storsælgende amerikanske historiker Antony Beevor tager i sin gennemgang af Anden Verdenskrigs slag denne gang læserne med til de sneklædte skove i Ardennerne, hvor tyskerne iværksatte deres sidste store offensiv på Vestfronten.......Den storsælgende amerikanske historiker Antony Beevor tager i sin gennemgang af Anden Verdenskrigs slag denne gang læserne med til de sneklædte skove i Ardennerne, hvor tyskerne iværksatte deres sidste store offensiv på Vestfronten....

  7. Ud at se med Erasmus

    DEFF Research Database (Denmark)

    Frandsen, Pernille

    2009-01-01

    Få lidt luft under vingerne, kom ud at møde udenlandske kolleger og se, hvordan man også kan lave uddannelsesbibliotek. Med begejstring fortæller tre bibliotekarer om deres oplevelser i det store udland – alt sammen finansieret af Erasmus.......Få lidt luft under vingerne, kom ud at møde udenlandske kolleger og se, hvordan man også kan lave uddannelsesbibliotek. Med begejstring fortæller tre bibliotekarer om deres oplevelser i det store udland – alt sammen finansieret af Erasmus....

  8. Ud med Freud, Marx og Lacan

    DEFF Research Database (Denmark)

    Clasen, Mathias

    2009-01-01

    Det er på høje tid, at humanister løsriver sig fra deres forældede teorier. Freud, Marx og Lacan skal erstattes med evolutionspsykologi, biologi og kognitionsvidenskab.......Det er på høje tid, at humanister løsriver sig fra deres forældede teorier. Freud, Marx og Lacan skal erstattes med evolutionspsykologi, biologi og kognitionsvidenskab....

  9. Nursing Staff Distress Associated With Neuropsychiatric Symptoms in Young-Onset Dementia and Late-Onset Dementia

    NARCIS (Netherlands)

    van Duinen-van den IJssel, Jeannette C L; Mulders, Ans J M J; Smalbrugge, Martin; Zwijsen, Sandra A; Appelhof, Britt; Zuidema, Sytse U; de Vugt, Marjolein E; Verhey, Frans R J; Bakker, Christian; Koopmans, Raymond T C M

    2017-01-01

    OBJECTIVE: The aims of this study were (1) to investigate the relationship between different neuropsychiatric symptoms (NPS) and the level of distress experienced by nurses caring for residents with young-onset dementia (YOD) and (2) to compare these findings with those for nurses caring for

  10. Til julefrokost med Bjørn & Okay

    DEFF Research Database (Denmark)

    Smith-Sivertsen, Henrik

    2012-01-01

    I denne artikel vises med udgangspunkt i en beskrivelse af et specifikt arrangement med det danske danseorkester Bjørn & Okay, hvordan man optræder inden for denne særlige musiktradition. Bjørn & Okays performative udgangspunkt er, at de, trods en status som landskendt orkester med mange hits, i ...... the audience and constantly telling them what to do. At the same time he and the other musicians actively bond with the audience, both onstage and offstage, which helps building the spirit of community, which is the clear goal of the musical performance....

  11. HIV and mental illness in Malawi and the neuropsychiatric sequelae of efavirenz.

    Science.gov (United States)

    Drury, Andrew; Gleadow-Ware, Selena; Gilfillan, Sheila; Ahrens, Jen

    2018-03-01

    Little is published about mental disorders in Malawi, specifically in relation to Human Immunodeficiency Virus (HIV) and it's treatment. Efavirenz is a medication commonly used as part of triple therapy for HIV treatment. Indeed, in 2013, Malawi introduced 5A with Efavirenz as part of it's 1st line treatment for HIV. There exists some literature documenting known psychiatric side effects of Efavirenz, which include anxiety, mood changes, nightmares, psychosis and suicidal ideation. Little is known about what features are most common in the presentation and what factors in the patient and drug which may make this reaction more likely. The aim of this commentary is to review the association between HIV and psychiatric disorder, and consider the neuropsychiatric side-effects of Efavirenz. An evaluative literature review was completed by means of multiple electronic database search as well as an additional manual search to obtain published works identified through the electronic search. Search terms used were: Efavirenz, Acquired Immunodeficiency Syndrome, Africa, Antiretroviral Therapy, Developing Countries, Malawi, Mental Disorders, Public Health, and Psychiatry. This is an important area of study, as potentially large numbers of individuals with HIV are being placed on Efavirenz as first line treatment, yet 60% may experience some form of neuropsychiatric side effects.

  12. Selskabsloven med kommentarer

    DEFF Research Database (Denmark)

    Schaumburg-Müller, Peer; Werlauff, Erik

    Selskabsloven med kommentarer er bibelen på området for kapitalselskaber. Den er et juridisk arbejdsredskab for praktikere, rådgivere, forskere og studerende. Bogen indeholder en komplet opdatering af kommentarerne i forhold til de mange ændringer i selskabsloven siden 1.-udgaven, men bygger i øv...

  13. Novel therapeutic targets in neuropsychiatric disorders: the neuroepigenome.

    Science.gov (United States)

    Tremolizzo, Lucio; Rodriguez-Menendez, Virginia; Conti, Elisa; Zoia, Chiara Paola; Cavaletti, Guido; Ferrarese, Carlo

    2014-01-01

    The neuroepigenome, i.e., the epigenome of the nervous system, has become interesting for therapeutics in the last years due to widespread availability of dedicated drugs. A pivotal role for neuroepigenetics is certainly implied, both in physiology and pathology, by the highly dynamic structural and functional rearrangements that constantly occur into the nervous system, globally known as plasticity. Moreover, the idea that the pathophysiology of several neuropsychiatric disorders might involve epigenetic mechanisms is increasingly taking place due to accumulating experimental data and by the evidence of a synergistic interaction between genes and environment beneath most sporadic forms of these diseases. In this paper we will review the available evidence on the use of epigenome-modifying drugs in the field of neuropsychiatry, shortly describing for each disease the underlying assumptions of an epigenetic dysregulation.

  14. Modeling Neuropsychiatric and Neurodegenerative Diseases With Induced Pluripotent Stem Cells.

    Science.gov (United States)

    LaMarca, Elizabeth A; Powell, Samuel K; Akbarian, Schahram; Brennand, Kristen J

    2018-01-01

    Human-induced pluripotent stem cells (hiPSCs) have revolutionized our ability to model neuropsychiatric and neurodegenerative diseases, and recent progress in the field is paving the way for improved therapeutics. In this review, we discuss major advances in generating hiPSC-derived neural cells and cutting-edge techniques that are transforming hiPSC technology, such as three-dimensional "mini-brains" and clustered, regularly interspersed short palindromic repeats (CRISPR)-Cas systems. We examine specific examples of how hiPSC-derived neural cells are being used to uncover the pathophysiology of schizophrenia and Parkinson's disease, and consider the future of this groundbreaking research.

  15. Automation med pneumatiske servodrev - status og fremtid

    DEFF Research Database (Denmark)

    Sørensen, Paul Haase

    1996-01-01

    Der er råd for problemer med ulineariteter. Med de nyeste metoder kan der lineære driftsområde udvides. Men pneumatikkomponenter skal være af høj kvalitet, når positionering skal være nøjagtig....

  16. Opfattelser af integration blandt unge med migrantbaggrund

    DEFF Research Database (Denmark)

    Skytte, Marianne; Bryderup, Inge

    2014-01-01

    I artiklen formidles analyser af otte interview med unge med migrantbaggrund. Der er fokus på de unges oplevelser og opfattelser af integration. Der er tale om komplekse processer og vekselvirkninger i forholdet mellem de samfundsmæssige kategoriseringer og individernes selvopfattelser. De unge o...

  17. Forandringslæring med autismediagnoser?

    DEFF Research Database (Denmark)

    Gustafson, Kari Ingrid; Mørck, Line Lerche

    2013-01-01

    Artiklen drøfter en række aktuelle spørgsmål omkring læring hos børn og unge med autisme-spektrum-forstyrrelses diagnoser. Der introduceres til en social praksisteoretisk forståelse af forandringslæring, der diskuterer forandring ikke kun i relation til en persons identitet, men også aktuelle og...... potentielle forandringer, når det gælder overskridelse af binær logik i autisme versus normalitet, samt i relation til at overskride individualiserede og dualistiske problem-forståelser af fejl og mangler ved det autistiske barn. Det illustreres, hvordan disse former for dualistisk tænkning er forankret i et...... Rasmus’ ændringer i læring, selvforståelse og tilhørsforhold perspektiveres med andre ASF-diagnostiseredes læring udforsket bl.a. gennem gruppeinterviews i regi af Asperger-foreningen. Artiklen byder således på et alternativ i form af at forstå forandringslæring som overskridende læring, med langt større...

  18. Personer med handicap

    DEFF Research Database (Denmark)

    Larsen, Brian; Jonassen, Anders Bruun; Høgelund, Jan

    Regeringens Arbejdsmarkedskommission kommmer medio 2009 med forslag til, hvordan den samlede arbejdsindsats varigt kan øges gennem reformer på arbejdsmarkedet. En måde det kan ske på, er ved at begrænse antallet af personer, der står uden for arbejdsmarkedet som følge af helbredsproblemer. Rappor...

  19. Neuropsychiatric disease relevance of circulating anti-NMDA receptor autoantibodies depends on blood-brain barrier integrity.

    Science.gov (United States)

    Hammer, C; Stepniak, B; Schneider, A; Papiol, S; Tantra, M; Begemann, M; Sirén, A-L; Pardo, L A; Sperling, S; Mohd Jofrry, S; Gurvich, A; Jensen, N; Ostmeier, K; Lühder, F; Probst, C; Martens, H; Gillis, M; Saher, G; Assogna, F; Spalletta, G; Stöcker, W; Schulz, T F; Nave, K-A; Ehrenreich, H

    2014-10-01

    In 2007, a multifaceted syndrome, associated with anti-NMDA receptor autoantibodies (NMDAR-AB) of immunoglobulin-G isotype, has been described, which variably consists of psychosis, epilepsy, cognitive decline and extrapyramidal symptoms. Prevalence and significance of NMDAR-AB in complex neuropsychiatric disease versus health, however, have remained unclear. We tested sera of 2817 subjects (1325 healthy, 1081 schizophrenic, 263 Parkinson and 148 affective-disorder subjects) for presence of NMDAR-AB, conducted a genome-wide genetic association study, comparing AB carriers versus non-carriers, and assessed their influenza AB status. For mechanistic insight and documentation of AB functionality, in vivo experiments involving mice with deficient blood-brain barrier (ApoE(-/-)) and in vitro endocytosis assays in primary cortical neurons were performed. In 10.5% of subjects, NMDAR-AB (NR1 subunit) of any immunoglobulin isotype were detected, with no difference in seroprevalence, titer or in vitro functionality between patients and healthy controls. Administration of extracted human serum to mice influenced basal and MK-801-induced activity in the open field only in ApoE(-/-) mice injected with NMDAR-AB-positive serum but not in respective controls. Seropositive schizophrenic patients with a history of neurotrauma or birth complications, indicating an at least temporarily compromised blood-brain barrier, had more neurological abnormalities than seronegative patients with comparable history. A common genetic variant (rs524991, P=6.15E-08) as well as past influenza A (P=0.024) or B (P=0.006) infection were identified as predisposing factors for NMDAR-AB seropositivity. The >10% overall seroprevalence of NMDAR-AB of both healthy individuals and patients is unexpectedly high. Clinical significance, however, apparently depends on association with past or present perturbations of blood-brain barrier function.

  20. [Etiological, clinical and neuroradiological investigation of deaf children with additional neuropsychiatric disabilities].

    Science.gov (United States)

    Chilosi, A M; Scusa, M F; Comparini, A; Genovese, E; Forli, F; Berrettini, S; Cipriani, P

    2012-04-01

    Sensorineural hearing loss (SNHL) is complicated by additional disabilities in about 30% of cases, but the epidemiology of associated disorders, in terms of type, frequency and aetiology is still not clearly defined. Additional disabilities in a deaf child have important consequences in assessing and choosing a therapeutic treatment, in particular when considering cochlear implantation (CI) or hearing aids (HA). The aim of this paper was to evaluate frequency, type and severity of additional neurodevelopmental disabilities in children with profound bilateral sensorineural hearing loss and to investigate the relationship between disability and the etiology of deafness. Eighty children with profound bilateral sensorineural hearing loss (mean age 5.4 years) were investigated by means of a diagnostic protocol including clinical, neurodevelopmental, and audiological procedures together with genetic and neurometabolic tests and neuroradiological investigation by brain MRI. Fifty-five percent of the sample exhibited one or more disabilities in addition to deafness, with cognitive, behavioural-emotional and motor disorders being the most frequent. The risk of additional disabilities varied according to aetiology, with a higher incidence in hereditary syndromic deafness, in cases due to pre-perinatal pathology (in comparison to unknown and hereditary non syndromic forms) and in the presence of major brain abnormalities at MRI. Our results suggest that the aetiology of deafness may be a significant risk indicator for the presence of neuropsychiatric disorders. A multidimensional evaluation, including aetiological, neurodevelopmental and MRI investigation is needed for formulating prognosis and for planning therapeutic intervention, especially in those children candidated to cochlear implant.

  1. Effects of anosognosia and neuropsychiatric symptoms on the quality of life of patients with Alzheimer's disease: a 24-month follow-up study.

    Science.gov (United States)

    Conde-Sala, Josep L; Turró-Garriga, Oriol; Piñán-Hernández, Sara; Portellano-Ortiz, Cristina; Viñas-Diez, Vanesa; Gascón-Bayarri, Jordi; Reñé-Ramírez, Ramón

    2016-02-01

    Neuropsychiatric symptoms and anosognosia are known to influence the perceived quality of life of patients (QoL-p) with Alzheimer's disease (AD). This study analysed their impact on patient and caregiver ratings of QoL-p and how these ratings changed in relation to the severity of dementia. A baseline sample of 221 patients and caregivers was followed up over 24 months. Instruments: Neuropsychiatric Inventory (NPI), Anosognosia Questionnaire-Dementia (AQ-D), Quality of life-Alzheimer's Disease (QoL-AD) and the Global Deterioration Scale (GDS). Longitudinal data were analysed using generalized linear models. In the multivariate analysis, greater anosognosia was always associated with higher ratings of QoL-p among patients, especially at 24 months (p negative ratings among caregivers, especially at baseline (p negative rating of QoL-p among caregivers (p negative effect on patients' self-ratings (p = 0.001). The neuropsychiatric symptoms (NPI) associated with a more negative view of QoL-p were depression, for patients' self-ratings, and apathy and agitation for caregiver ratings. The discrepancy between patient and caregiver ratings increased in line with the severity of dementia. Neuropsychiatric symptoms had a similarly negative effect on the QoL-p ratings of both patients and caregivers, whereas the effect of anosognosia differed according to the rater (positive for patients, negative for caregivers). Copyright © 2015 John Wiley & Sons, Ltd.

  2. Genetic aspects of pathological gambling: a complex disorder with shared genetic vulnerabilities.

    Science.gov (United States)

    Lobo, Daniela S S; Kennedy, James L

    2009-09-01

    To summarize and discuss findings from genetic studies conducted on pathological gambling (PG). Searches were conducted on PubMed and PsychInfo databases using the keywords: 'gambling and genes', 'gambling and family' and 'gambling and genetics', yielding 18 original research articles investigating the genetics of PG. Twin studies using the Vietnam Era Twin Registry have found that: (i) the heritability of PG is estimated to be 50-60%; (ii) PG and subclinical PG are a continuum of the same disorder; (iii) PG shares genetic vulnerability factors with antisocial behaviours, alcohol dependence and major depressive disorder; (iv) genetic factors underlie the association between exposure to traumatic life-events and PG. Molecular genetic investigations on PG are at an early stage and published studies have reported associations with genes involved in the brain's reward and impulse control systems. Despite the paucity of studies in this area, published studies have provided considerable evidence of the influence of genetic factors on PG and its complex interaction with other psychiatric disorders and environmental factors. The next step would be to investigate the association and interaction of these variables in larger molecular genetic studies with subphenotypes that underlie PG. Results from family and genetic investigations corroborate further the importance of understanding the biological underpinnings of PG in the development of more specific treatment and prevention strategies.

  3. From Genetics to Epigenetics: New Perspectives in Tourette Syndrome Research

    Science.gov (United States)

    Pagliaroli, Luca; Vető, Borbála; Arányi, Tamás; Barta, Csaba

    2016-01-01

    Gilles de la Tourette Syndrome (TS) is a neurodevelopmental disorder marked by the appearance of multiple involuntary motor and vocal tics. TS presents high comorbidity rates with other disorders such as attention deficit hyperactivity disorder (ADHD) and obsessive compulsive disorder (OCD). TS is highly heritable and has a complex polygenic background. However, environmental factors also play a role in the manifestation of symptoms. Different epigenetic mechanisms may represent the link between these two causalities. Epigenetic regulation has been shown to have an impact in the development of many neuropsychiatric disorders, however very little is known about its effects on Tourette Syndrome. This review provides a summary of the recent findings in genetic background of TS, followed by an overview on different epigenetic mechanisms, such as DNA methylation, histone modifications, and non-coding RNAs in the regulation of gene expression. Epigenetic studies in other neurological and psychiatric disorders are discussed along with the TS-related epigenetic findings available in the literature to date. Moreover, we are proposing that some general epigenetic mechanisms seen in other neuropsychiatric disorders may also play a role in the pathogenesis of TS. PMID:27462201

  4. Juridiske overvejelser i forbindelse med Influence Operationer

    DEFF Research Database (Denmark)

    Nissen, Thomas Elkjer

    2014-01-01

    Kapitel 8: Juridiske overvejelser i forbindelse med influence-operationer Af Thomas Elkjer Nissen Dette kapitel fokuserer ligesom kapitel 9 på de juridiske problemstillinger, som den teknologiske udvikling har bragt med sig til væbnede konflikter; i dette kapitel er der fokus på kommunikation....... Kapitlet ser nærmere på det moderne informationsmiljø, dets betydning i moderne konflikter og den stigende anvendelse af information som magtmiddel. Herefter rettes blikket mod de juridiske overvejelser, der er forbundet med influence-operationer, bl.a. tid og rum, chefansvar, mandat og juridisk grundlag....... Afsnittet behandler desuden bl.a. jus in bello’s grundlæggende princippers indflydelse på influence-operationer....

  5. Genetics Home Reference: aldosterone-producing adenoma

    Science.gov (United States)

    ... Nat Genet. 2013 Sep;45(9):1055-60. doi: 10.1038/ng.2716. Epub 2013 Aug 4. ... 2013 Apr;45(4):440-4, 444e1-2. doi: 10.1038/ng.2550. Epub 2013 Feb 17. ... Science. 2011 Feb 11;331(6018):768-72. doi: 10.1126/science.1198785. Citation on PubMed or ...

  6. Ukraine i fokus sammen med Georgien

    DEFF Research Database (Denmark)

    Fledelius, Karsten

    2017-01-01

    Der er god grund til at sammenligne Ukraine og Georgien, nu fokuslande for Danmark, og der er god grund til at støtte disse to eks-sovjetiske stater med i høj grad parallelle problemer.......Der er god grund til at sammenligne Ukraine og Georgien, nu fokuslande for Danmark, og der er god grund til at støtte disse to eks-sovjetiske stater med i høj grad parallelle problemer....

  7. Paedatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infection in an Indian Adolescent--A Case Report

    Science.gov (United States)

    Sharma, Sachin; Vaish, Supriya; Chopra, Saurabh; Singh, Vindyaprakash; Sharma, Priyanka

    2012-01-01

    Pediatric Autoimmune Neuropsychiatric Disorders associated with Streptococcal infection (PANDAS) is a unique constellation of signs and symptoms that exist in a subset of children with rapid onset or exacerbation of obsessive-compulsive disorder (OCD) and/or tic disorders due to an initial autoimmune reaction to a Group A Beta Hemolytic…

  8. Neuropsychiatric manifestations of alkali metal deficiency and excess

    Energy Technology Data Exchange (ETDEWEB)

    Yung, C.Y.

    1984-01-01

    The alkali metals from the Group IA of the periodic table (lithium, sodium, potassium, rubidium, cesium and francium) are reviewed. The neuropsychiatric aspects of alkali metal deficiencies and excesses (intoxications) are described. Emphasis was placed on lithium due to its clinical uses. The signs and symptoms of these conditions are characterized by features of an organic brain syndrome with delirium and encephalopathy prevailing. There are no clinically distinctive features that could be reliably used for diagnoses. Sodium and potassium are two essential alkali metals in man. Lithium is used as therapeutic agent in bipolar affective disorders. Rubidium has been investigated for its antidepressant effect in a group of psychiatric disorders. Cesium is under laboratory investigation for its role in carcinogenesis and in depressive illness. Very little is known of francium due to its great instability for experimental study.

  9. Fetal programming of neuropsychiatric disorders.

    Science.gov (United States)

    Faa, Gavino; Manchia, Mirko; Pintus, Roberta; Gerosa, Clara; Marcialis, Maria Antonietta; Fanos, Vassilios

    2016-09-01

    Starting from the Developmental Origins of Health and Disease (DOHaD) hypotheses proposed by David Barker, namely fetal programming, in the past years, there is a growing evidence of the major role played by epigenetic factors during the intrauterine life and the perinatal period. Furthermore, it has been assessed that these factors can affect the health status in infancy and even in adulthood. In this review, we focus our attention on the fetal programming of the brain, analyzing the most recent literature concerning the epigenetic factors that can influence the development of neuropsychiatric disorders such as bipolar disorders, major depressive disorders, and schizophrenia. The perinatal epigenetic factors have been divided in two main groups: maternal factors and fetal factors. The maternal factors include diet, smoking, alcoholism, hypertension, malnutrition, trace elements, stress, diabetes, substance abuse, and exposure to environmental toxicants, while the fetal factors include hypoxia/asphyxia, placental insufficiency, prematurity, low birth weight, drugs administered to the mother or to the baby, and all factors causing intrauterine growth restriction. A better comprehension of the possible mechanisms underlying the pathogenesis of these diseases may help researchers and clinicians develop new diagnostic tools and treatments to offer these patients a tailored medical treatment strategy to improve their quality of life. Birth Defects Research (Part C) 108:207-223, 2016. © 2016 Wiley Periodicals, Inc. © 2016 Wiley Periodicals, Inc.

  10. Modeling Neuropsychiatric and Neurodegenerative Diseases With Induced Pluripotent Stem Cells

    Directory of Open Access Journals (Sweden)

    Elizabeth A. LaMarca

    2018-04-01

    Full Text Available Human-induced pluripotent stem cells (hiPSCs have revolutionized our ability to model neuropsychiatric and neurodegenerative diseases, and recent progress in the field is paving the way for improved therapeutics. In this review, we discuss major advances in generating hiPSC-derived neural cells and cutting-edge techniques that are transforming hiPSC technology, such as three-dimensional “mini-brains” and clustered, regularly interspersed short palindromic repeats (CRISPR-Cas systems. We examine specific examples of how hiPSC-derived neural cells are being used to uncover the pathophysiology of schizophrenia and Parkinson’s disease, and consider the future of this groundbreaking research.

  11. Genetics of Schizophrenia: Historical Insights and Prevailing Evidence.

    Science.gov (United States)

    van de Leemput, J; Hess, J L; Glatt, S J; Tsuang, M T

    2016-01-01

    Schizophrenia's (SZ's) heritability and familial transmission have been known for several decades; however, despite the clear evidence for a genetic component, it has been very difficult to pinpoint specific causative genes. Even so genetic studies have taught us a lot, even in the pregenomic era, about the molecular underpinnings and disease-relevant pathways. Recurring themes emerged revealing the involvement of neurodevelopmental processes, glutamate regulation, and immune system differential activation in SZ etiology. The recent emergence of epigenetic studies aimed at shedding light on the biological mechanisms underlying SZ has provided another layer of information in the investigation of gene and environment interactions. However, this epigenetic insight also brings forth another layer of complexity to the (epi)genomic landscape such as interactions between genetic variants, epigenetic marks-including cross-talk between DNA methylation and histone modification processes-, gene expression regulation, and environmental influences. In this review, we seek to synthesize perspectives, including limitations and obstacles yet to overcome, from genetic and epigenetic literature on SZ through a qualitative review of risk factors and prevailing hypotheses. Encouraged by the findings of both genetic and epigenetic studies to date, as well as the continued development of new technologies to collect and interpret large-scale studies, we are left with a positive outlook for the future of elucidating the molecular genetic mechanisms underlying SZ and other complex neuropsychiatric disorders. Copyright © 2016 Elsevier Inc. All rights reserved.

  12. Neuropsychiatric manifestations after mefloquine therapy for Plasmodium falciparum malaria: comparing a retrospective and a prospective study

    DEFF Research Database (Denmark)

    Rønn, A M; Rønne-Rasmussen, J; Gøtzsche, P C

    1998-01-01

    Mefloquine has been increasingly used for treatment of chloroquine-resistant malaria since its introduction in the late 1970s. In 1987 the first case of toxic encephalopathy was published, and in 1989 the WHO initiated reporting and investigation of neuropsychiatric adverse reactions of mefloquine...

  13. Neuropsychiatric Aspects of Healthy Aging: an Epidemiological Approach : Neuropsychiatrische aspecten van gezond ouder worden: een epidemiologische benadering

    NARCIS (Netherlands)

    J. Milic (Jelena)

    2018-01-01

    markdownabstractAgeing is becoming a significant global challenge which will require economic and social adjustments. Aging causes morphological changes in the brain associated with increased prevalence and incidence of neuropsychiatric diseases, mostly depression, Alzheimer’s Disease (AD) and

  14. Genetics Home Reference: ring chromosome 14 syndrome

    Science.gov (United States)

    ... be something about the ring structure itself that causes epilepsy. Seizures may occur because certain genes on the ... mapping of telomeric 14q32 deletions: search for the cause of seizures. Am J Med Genet A. ... L, Elia M, Vigevano F. Epilepsy in ring 14 chromosome syndrome. Epilepsy Behav. 2012 ...

  15. Effektivisering av arbetet med rumsbeskrivningar

    OpenAIRE

    Enström, Magnus

    2016-01-01

    För att ta byggbranschen till nästa steg i utvecklingen är BIM det naturliga steget. Iteorin tycks många av lösningarna som medföljer implementationen av BIM varaenkla att förstå och skapa, i praktiken ligger dock de tekniska lösningarna långt ifrånen full implementation i branschen. I arbetet med olika typer av beskrivningar inomett byggprojekt har utvecklingen med hjälp av BIM stått still länge. Då det inte finnsnågot vedertaget sätt att utnyttja en BIM-modells information för att fylla oli...

  16. Fang CO2 med Aminosyrer

    DEFF Research Database (Denmark)

    Lerche, Benedicte Mai

    2010-01-01

    Med såkaldte “carbon capture-teknikker” er det muligt at rense røgen fra kulfyrede kraftværker, således at den er næsten helt fri for drivhusgassen CO2. Kunsten er at gøre processen tilstrækkeligt billig. Et lovende fangstredskab i denne proces er aminosyrer.......Med såkaldte “carbon capture-teknikker” er det muligt at rense røgen fra kulfyrede kraftværker, således at den er næsten helt fri for drivhusgassen CO2. Kunsten er at gøre processen tilstrækkeligt billig. Et lovende fangstredskab i denne proces er aminosyrer....

  17. Diagnostic and treatment challenges in traumatic brain injury patients with severe neuropsychiatric symptoms: insights into psychiatric practice.

    Science.gov (United States)

    Lauterbach, Margo D; Notarangelo, Paula L; Nichols, Stephen J; Lane, Kristy S; Koliatsos, Vassilis E

    2015-01-01

    Traumatic brain injury (TBI) causes a variety of neuropsychiatric problems that pose diagnostic and treatment challenges for providers. In this report, we share our experience as a referral neuropsychiatry program to assist the general psychiatrist when adult TBI patients with psychiatric symptoms present for evaluation and treatment. We completed a retrospective study of patients with moderate-to-severe TBI and severe neuropsychiatric impairments. We collected information on demographics, nature of injury, symptomatology, diagnoses, and treatments. Data analysis indicates that mood stabilization was a key concern, often requiring aggressive pharmacological management. Cognitive dysfunction was a problem for the majority of patients, but was only medicated in a third, due to poor efficacy or behavioral side effects. The co-occurrence of multiple TBI-related symptoms and diagnoses in this patient cohort emphasizes the need for individualized psychopharmacological approaches and interventions.

  18. Mindfulness som smertehåndteringsredskab for kvinder med endometriose

    DEFF Research Database (Denmark)

    Jensen, Mette Kold; Vedsted-Hansen, Hanne; Hansen, Tia G. B.

    2011-01-01

    Endometriose er en kronisk underlivssygdom med smerter og en række afledte problemer, som ikke nødvendigvis kan behandles med lægelige tiltag. Artiklen argumenterer for, at en mindfulness-baseret tilgang med fokus på smertehåndtering kan anvendes til denne klientgruppe. I vestlig terapeutisk...... sammenhæng kan mindfulness karakteriseres som nærvær, observation og beskrivelse af sansninger uden vurdering eller reaktion. Mindfulness-træning har effekt mod andre typer stress og kroniske smerter, og artiklen opridser et koncept til anvendelse ved endometriose. Konceptet belyses med en case, hvor...

  19. Frihet & struktur : en kvalitativ studie av skolelivskvalitet hos ungdom med Tourette syndrom

    OpenAIRE

    Siverts, Torstein

    2005-01-01

    Sammendrag. Tittel: Skolelivskvalitet hos ungdom med Tourette Syndrom Med bakgrunn i egen erfaring fra arbeid med elever med Tourette Syndrom i grunnskolen, og i studier i spesialpedagogisk teori og empiri, etterstrebes det i denne studien å utvikle økt forståelse for hva slags erfaringer fra og perspektiver på sitt skoleliv elever med denne funksjonshemmende lidelsen har. Med grunnlag i analyser av intervjuer med elever om deres erfaringer og perspektiver, har jeg prøvd å b...

  20. GeneAnalytics Pathway Analysis and Genetic Overlap among Autism Spectrum Disorder, Bipolar Disorder and Schizophrenia

    Directory of Open Access Journals (Sweden)

    Naveen S. Khanzada

    2017-02-01

    Full Text Available Bipolar disorder (BPD and schizophrenia (SCH show similar neuropsychiatric behavioral disturbances, including impaired social interaction and communication, seen in autism spectrum disorder (ASD with multiple overlapping genetic and environmental influences implicated in risk and course of illness. GeneAnalytics software was used for pathway analysis and genetic profiling to characterize common susceptibility genes obtained from published lists for ASD (792 genes, BPD (290 genes and SCH (560 genes. Rank scores were derived from the number and nature of overlapping genes, gene-disease association, tissue specificity and gene functions subdivided into categories (e.g., diseases, tissues or functional pathways. Twenty-three genes were common to all three disorders and mapped to nine biological Superpathways including Circadian entrainment (10 genes, score = 37.0, Amphetamine addiction (five genes, score = 24.2, and Sudden infant death syndrome (six genes, score = 24.1. Brain tissues included the medulla oblongata (11 genes, score = 2.1, thalamus (10 genes, score = 2.0 and hypothalamus (nine genes, score = 2.0 with six common genes (BDNF, DRD2, CHRNA7, HTR2A, SLC6A3, and TPH2. Overlapping genes impacted dopamine and serotonin homeostasis and signal transduction pathways, impacting mood, behavior and physical activity level. Converging effects on pathways governing circadian rhythms support a core etiological relationship between neuropsychiatric illnesses and sleep disruption with hypoxia and central brain stem dysfunction.

  1. Spilleregler i musikterapi med børn

    DEFF Research Database (Denmark)

    Holck, Ulla

    2005-01-01

    Artiklen gennemgår udvalgte eksempler på anvendelse af spilleregler i musikterapi med børneklientgrupper. Efter en kort introduktion af Priestleys syn på analytisk musikterapi med børn, præsenteres læseren således for en række caseeksempler fra faglitteraturen, der giver indblik i udformning og a...

  2. Forsøg med Hi-Con altanelement

    DEFF Research Database (Denmark)

    Hansen, Lars Pilegaard

    Denne rapport beskriver forsøg udført på Laboratoriet for Bærende Konstruktioner, Aalborg Universitet med et altanelement leveret af Hi-Con Aps, Hjallerup. Forsøgene er udført i september 2002. Forsøgene omfatter en statisk prøvning, hvor altanelementet blev belastet med sandsække og nedbøjningerne...

  3. Rutsjende dug - breddeopgave 73 med didaktisk kommentar

    DEFF Research Database (Denmark)

    Jensen, Jens Højgaard

    2017-01-01

    Mit formål med artikelserien om breddeopgaver er - udover at gøre opmærksom på RUCs fysikuddannelse - dobbelt: Dels udvælger jeg opgaverne, så de kan have interesse som fysikproblemer i egen ret. Dels udvælger jeg dem med henblik på at kunne knytte didaktiske overvejelser til dem af interesse for...

  4. Validation Study of the Korean Version of the Brief Clinical Form of the Neuropsychiatric Inventory

    Directory of Open Access Journals (Sweden)

    Hee-Jin Kim

    2016-06-01

    Full Text Available Aim: This study aims to provide a brief questionnaire form of the Neuropsychiatric Inventory (NPI-Q in Korean translated from the original NPI-Q that is intended for the evaluation of behavioral and psychological symptoms of dementia in routine clinical practice. Patients and Methods: We developed a Korean version of the NPI-Q (KNPI-Q and compared subitems with those of the Korean version of the NPI (KNPI in 63 dementia patients; 47 patients had been diagnosed with Alzheimer's disease with dementia, 8 with vascular dementia, and 8 with dementia with Lewy body disease. The diagnosis was based on the National Institute of Neurological and Communicative Disorders and Stroke - Alzheimer's Disease and Related Disorders Association criteria for possible and probable Alzheimer's disease and the International Statistical Classification of Diseases and Related Health Problems, 10th revision, criteria for vascular dementia and other dementing diseases. All patients received the Korean version of the Mini-Mental State Examination and the Clinical Dementia Rating within 1 month of the KNPI-Q. Results: Test-retest reliability of the KNPI-Q using a Pearson correlation index was r = 0.89 for the total symptom scale and r = 0.90 for the distress scale. The prevalence of analogous symptom ratings differed by less than 6.7%. Convergent validity between the KNPI-Q and the NPI using a Pearson correlation index was r = 0.879 for the total symptom scale and r = 0.92 for the distress scale. Conclusions: The KNPI-Q is a reliable and brief instrument that can be employed for screening in the evaluation of neuropsychiatric symptoms of dementia and associated caregiver distress. It may be suitable for use in general clinical practice and could be administered as a brief neuropsychiatric interview.

  5. Differential susceptibility to plasticity: a 'missing link' between gene-culture co-evolution and neuropsychiatric spectrum disorders?

    Directory of Open Access Journals (Sweden)

    Wurzman Rachel

    2012-04-01

    Full Text Available Abstract Brüne's proposal that erstwhile 'vulnerability' genes need to be reconsidered as 'plasticity' genes, given the potential for certain environments to yield increased positive function in the same domain as potential dysfunction, has implications for psychiatric nosology as well as a more dynamic understanding of the relationship between genes and culture. In addition to validating neuropsychiatric spectrum disorder nosologies by calling for similar methodological shifts in gene-environment-interaction studies, Brüne's position elevates the importance of environmental contexts - inclusive of socio-cultural variables - as mechanisms that contribute to clinical presentation. We assert that when models of susceptibility to plasticity and neuropsychiatric spectrum disorders are concomitantly considered, a new line of inquiry emerges into the co-evolution and co-determination of socio-cultural contexts and endophenotypes. This presents potentially unique opportunities, benefits, challenges, and responsibilities for research and practice in psychiatry. Please see related manuscript: http://www.biomedcentral.com/1741-7015/10/38

  6. Lyme disease and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS: an overview

    Directory of Open Access Journals (Sweden)

    Rhee H

    2012-02-01

    Full Text Available Hanna Rhee1, Daniel J Cameron21Medicine, San Diego, CA, 2Northern Westchester Hospital, Mount Kisco, NY, USAAbstract: Lyme disease (LD is a complex, multisystemic illness. As the most common vector-borne disease in the United States, LD is caused by bacterial spirochete Borrelia burgdorferi sensu stricto, with potential coinfections from agents of anaplasmosis, babesiosis, and ehrlichiosis. Persistent symptoms and clinical signs reflect multiorgan involvement with episodes of active disease and periods of remission, not sparing the coveted central nervous system. The capability of microorganisms to cause and exacerbate various neuropsychiatric pathology is also seen in pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections (PANDAS, a recently described disorder attributed to bacterium Streptococcus pyogenes of group A beta-hemolytic streptococcus in which neurologic tics and obsessive-compulsive disorders are sequelae of the infection. In the current overview, LD and PANDAS are juxtaposed through a review of their respective infectious etiologies, clinical presentations, mechanisms of disease development, courses of illness, and treatment options. Future directions related to immunoneuropsychiatry are also discussed.Keywords: neuroborreliosis, infection, obsessive-compulsive disorder, tic disorder, Borrelia burgdorferi, strep throat

  7. Neuropsychiatric profiles in patients with Alzheimer′s disease and vascular dementia

    Directory of Open Access Journals (Sweden)

    Tushar Kanti Bandyopadhyay

    2014-01-01

    Full Text Available Background/Aims: The aim of the following study is to compare the behavioral and psychological symptoms of dementia (BPSD in patients of Alzheimer disease (AD and vascular dementia (VaD. Materials and Methods: We used National Institute of Neurological and Communicative Disorders and Stroke-Alzheimer′s Disease and Related Disorders Association criteria for diagnosing AD and National Institute of Neurological Disorders and Stroke-Association International pour la Recherche et l′Enseignement en Neurosciences Criteria for diagnosing VaD. VaD cohort was further subcategorized into small vessel and large vessel disease. The severity of cognitive impairment and the BPSD were studied by means of the Clinical Dementia Rating Scale (CDR and the Neuropsychiatric Inventory respectively. Results: We studied 50 AD and 50 VaD patients of whom 38 were small vessels and 12 were large vessels VaD. The severity of dementia was comparable in both groups. The agitation/aggression, depression/dysphoria, anxiety, apathy/indifference, irritability, aberrant motor behavior, appetite and eating behavior and night-time behaviors occurred significantly more frequently in patients with VaD than AD. We found a weak positive correlation between the CDR score and the number of neuropsychiatric symptoms per patient in both cohorts. Elation/euphoria, agitation/aggression was significantly more frequent in patients with large vessel in comparison to small vessel VaD. Conclusions: BPSD are common in both types of dementia and they are more severe in VaD than AD when the groups have similar levels of cognitive impairment.

  8. Epilepsy genetics: clinical beginnings and social consequences.

    Science.gov (United States)

    Johnston, J A; Rees, M I; Smith, P E M

    2009-07-01

    The approach to epilepsy care has transformed in the last 30 years, with more and better anti-epileptic medications, improved cerebral imaging and increased surgical options. Alongside this, developments in neuroscience and molecular genetics have furthered the understanding of epileptogenesis. Future developments in pharmacogenomics hold the promise of antiepileptic drugs matched to specific genotypes. Despite this rapid progress, one-third of epilepsy patients remain refractory to medication, with their seizures impacting upon day-to-day activity, social well-being, independence, economic output and quality of life. International genome collaborations, such as HapMap and the Welcome Trust Case-Control Consortium single nucleotide polymorphism (SNP) mapping project have identified common genetic variations in diseases of major public health importance. Such genetic signposts should help to identify at-risk populations with a view to producing more effective pharmaceutical treatments. Neurological disorders, despite comprising one-fifth of UK acute medical hospital admissions, are surprisingly under-represented in these projects. Epilepsy is the commonest serious neurological disorder worldwide. Although physically, psychologically, socially and financially disabling, it rarely receives deserved attention from physicians, scientists and governmental bodies. As outlined in this article, research into epilepsy genetics presents unique challenges. These help to explain why the identification of its complex genetic traits has lagged well behind other disciplines, particularly the efforts made in neuropsychiatric disorders. Clinical beginnings must underpin any genetic understanding in epilepsy. Success in identifying genetic traits in other disorders does not make the automatic case for genome-wide screening in epilepsy, but such is a desired goal. The essential clinical approach of accurately phenotyping, diagnosing and interpreting the dynamic nature of epilepsy

  9. Digital kommunikation med den offentlige sektor

    DEFF Research Database (Denmark)

    Berger, Jesper Bull; Andersen, Kim Normann

    til. I denne undersøgelse sættes der fokus på myndighedernes besvarelse af den digitale post. Digital post blev bl.a. etableret som et alternativ til almindelig e-mail for at det offentlige kan kommunikere med borgere og virksomheder på en sikker måde, dvs. uden at uvedkommende kan få adgang til...... følsomme oplysninger. Fokus for undersøgelsen er hvordan håndterer myndighederne besvarelserne i den digitale postkasse: svarer de på digital post og e-mail, hvor hurtigt svarer de og er svarene brugbare? Undersøgelsen medtager myndighedernes besvarelse af digital post og e-mail, dels for at kunne...... sammenligne de to digitale kanaler og for at kunne sammenligne med en tidligere undersøgelse af digital kommunikation med det offentlige. Herudover er der tidligere gennemført en undersøgelse af e-mail svar og svartider i New Zealand og Australien. De danske resultater fra e-mail undersøgelsen, men ikke...

  10. Human Metabolic Enzymes Deficiency: A Genetic Mutation Based Approach

    Directory of Open Access Journals (Sweden)

    Swati Chaturvedi

    2016-01-01

    Full Text Available One of the extreme challenges in biology is to ameliorate the understanding of the mechanisms which emphasize metabolic enzyme deficiency (MED and how these pretend to have influence on human health. However, it has been manifested that MED could be either inherited as inborn error of metabolism (IEM or acquired, which carries a high risk of interrupted biochemical reactions. Enzyme deficiency results in accumulation of toxic compounds that may disrupt normal organ functions and cause failure in producing crucial biological compounds and other intermediates. The MED related disorders cover widespread clinical presentations and can involve almost any organ system. To sum up the causal factors of almost all the MED-associated disorders, we decided to embark on a less traveled but nonetheless relevant direction, by focusing our attention on associated gene family products, regulation of their expression, genetic mutation, and mutation types. In addition, the review also outlines the clinical presentations as well as diagnostic and therapeutic approaches.

  11. Regional cerebral blood flow and the effects of nicardipine, a new cerebral vasodilator, in patients with neuropsychiatric symptoms

    International Nuclear Information System (INIS)

    Toyoda, Katsuhiro; Motomura, Naoyasu; Murata, Koen; Sakai, Toshiaki; Yoshioka, Michio; Tsutsumi, Shigetoshi.

    1984-01-01

    Regional cerebral blood flow (rCBF) was determined by 133 Xe inhalation method in 22 neuropsychiatric patients with an average age of 65.8 years -- 14 patients having cerebrovascular disturbance (Group 1) and 8 patients having endogenous or organic psychosis or neurological lesions (Group 2). Furthermore, nicardipine was orally administered to the patients and its effects on rCBF and on neuropsychiatric symptoms were examined. Regarding the mean and abnormal decrease of rCBF in the bilateral hemispheres and the frequency of ischemic foci, there was no significant difference between the groups. However, regional ischemic focus was more frequently observed in Group 1 than in Group 2. Long-term serial administration of nicardipine increased the rCBF and improved psychiatric symptoms in some of the patients in Group 1. (Namekawa, K.)

  12. Mellem nyliberalisme og terror - Interview med Chantal Mouffe

    DEFF Research Database (Denmark)

    Hansen, Allan Dreyer; Sonnichsen, André

    2012-01-01

    Interview med Chantal Mouffe om Hegemony and Socalist Strategy, modstandere og fjender en ny multipolær verdensorden og demokrati......Interview med Chantal Mouffe om Hegemony and Socalist Strategy, modstandere og fjender en ny multipolær verdensorden og demokrati...

  13. Effektelektronik - teknologi med energibesparelser og forbedret performance

    DEFF Research Database (Denmark)

    Blaabjerg, Frede

    2004-01-01

    Lige siden transistoren blev opfundet, har det altid været ønskeligt at kunne anvende en sådan til at styre store strømme/spændinger i elektriske systemer. Det er teknologisk også sket, først med tyristorer til styring af store effekter, men siden hen også med den bipolare transistor MOSFET, samt...

  14. Ny viden begynder med forhindringer

    DEFF Research Database (Denmark)

    Johansen, Martin Blok

    2017-01-01

    Pædagogik og pædagogisk arbejde diskuteres typisk inden for rammerne af det at hjælpe, støtte, simplificere og kompleksitetsreducere. Hvis man ønsker at vide noget om forhindringer, modstand og vanskeligheder som pædagogiske muligheder, så er udbuddet derimod forsvindende småt. Og når sådanne...... begreber endelig tages op, så benævnes de typisk blot, men bliver sjældent defineret. Hvad menes der med modstand, vanskeligheder eller kompleksitet? Med afsæt i en kort gennemgang af eksisterende forskning på området forsøger denne artikel at give et bud på en mulig definition af begrebet forhindring...

  15. Executive Dysfunctions: The role in Attention Deficit Hyperactivity and Post-traumatic Stress neuropsychiatric disorders

    Directory of Open Access Journals (Sweden)

    Lía Martínez

    2016-08-01

    Full Text Available Executive functions (EFs is an umbrella term for various cognitive processes controlled by a complex neural activity, which allow the production of different types of behaviors seeking to achieve specific objectives, one of them being inhibitory control. There is a wide consensus that clinical and behavioral alterations associated with EF, such as inhibitory control, are present in various neuropsychiatric disorders. This paper reviews the research literature on the relationship between executive dysfunction, frontal-subcortical neural circuit changes, and the psychopathological processes associated with Attention Deficit Hyperactivity Disorder (ADHD and Post-traumatic Stress Disorder (PTSD. A revision on the role of frontal-subcortical neural circuits and their presumable abnormal functioning and the high frequency of neuropsychiatric symptoms could explain the difficulties with putting effector mechanisms into action, giving individuals the necessary tools to act efficiently in their environment. Although neuronal substrate data about ADHD and PTSD has been reported in the literature, it is isolated. Therefore, this review highlights the overlapping of neural substrates in the symptomatology of ADHD and PTSD disorders concerning EFs, especially in the inhibitory component. Thus, the changes related to impaired EF that accompany disorders like ADHD and PTSD could be explained by disturbances that have a direct or indirect impact on the functioning of these loops. Initially, the theoretical model of EF according to current neuropsychology will be presented, focusing on the inhibitory component. In a second stage, this component will be analyzed for each of the disorders of interest, considering the clinical aspects, the etiology and the neurobiological basis. Additionally, commonalities between the two neuropsychiatric conditions will be taken into consideration from the perspectives of cognitive and emotional inhibition. Finally, the

  16. Executive Dysfunctions: The Role in Attention Deficit Hyperactivity and Post-traumatic Stress Neuropsychiatric Disorders

    Science.gov (United States)

    Martínez, Lía; Prada, Edward; Satler, Corina; Tavares, Maria C. H.; Tomaz, Carlos

    2016-01-01

    Executive functions (EFs) is an umbrella term for various cognitive processes controlled by a complex neural activity, which allow the production of different types of behaviors seeking to achieve specific objectives, one of them being inhibitory control. There is a wide consensus that clinical and behavioral alterations associated with EF, such as inhibitory control, are present in various neuropsychiatric disorders. This paper reviews the research literature on the relationship between executive dysfunction, frontal-subcortical neural circuit changes, and the psychopathological processes associated with attention deficit hyperactivity disorder (ADHD) and post-traumatic stress disorder (PTSD). A revision on the role of frontal-subcortical neural circuits and their presumable abnormal functioning and the high frequency of neuropsychiatric symptoms could explain the difficulties with putting effector mechanisms into action, giving individuals the necessary tools to act efficiently in their environment. Although, neuronal substrate data about ADHD and PTSD has been reported in the literature, it is isolated. Therefore, this review highlights the overlapping of neural substrates in the symptomatology of ADHD and PTSD disorders concerning EFs, especially in the inhibitory component. Thus, the changes related to impaired EF that accompany disorders like ADHD and PTSD could be explained by disturbances that have a direct or indirect impact on the functioning of these loops. Initially, the theoretical model of EF according to current neuropsychology will be presented, focusing on the inhibitory component. In a second stage, this component will be analyzed for each of the disorders of interest, considering the clinical aspects, the etiology and the neurobiological basis. Additionally, commonalities between the two neuropsychiatric conditions will be taken into consideration from the perspectives of cognitive and emotional inhibition. Finally, the implications and future

  17. Subjective cognitive concerns and neuropsychiatric predictors of progression to the early clinical stages of Alzheimer disease.

    Science.gov (United States)

    Donovan, Nancy J; Amariglio, Rebecca E; Zoller, Amy S; Rudel, Rebecca K; Gomez-Isla, Teresa; Blacker, Deborah; Hyman, Bradley T; Locascio, Joseph J; Johnson, Keith A; Sperling, Reisa A; Marshall, Gad A; Rentz, Dorene M

    2014-12-01

    To examine neuropsychiatric and neuropsychological predictors of progression from normal to early clinical stages of Alzheimer disease (AD). From a total sample of 559 older adults from the Massachusetts Alzheimer's Disease Research Center longitudinal cohort, 454 were included in the primary analysis: 283 with clinically normal cognition (CN), 115 with mild cognitive impairment (MCI), and 56 with subjective cognitive concerns (SCC) but no objective impairment, a proposed transitional group between CN and MCI. Two latent cognitive factors (memory-semantic, attention-executive) and two neuropsychiatric factors (affective, psychotic) were derived from the Alzheimer's Disease Centers' Uniform Data Set neuropsychological battery and Neuropsychiatric Inventory brief questionnaire. Factors were analyzed as predictors of time to progression to a worse diagnosis using a Cox proportional hazards regression model with backward elimination. Covariates included baseline diagnosis, gender, age, education, prior depression, antidepressant medication, symptom duration, and interaction terms. Higher/better memory-semantic factor score predicted lower hazard of progression (hazard ratio [HR] = 0.4 for 1 standard deviation [SD] increase, p factor score predicted higher hazard (HR = 1.3 for one SD increase, p = 0.01). No other predictors were significant in adjusted analyses. Using diagnosis as a sole predictor of transition to MCI, the SCC diagnosis carried a fourfold risk of progression compared with CN (HR = 4.1, p factors as significant predictors of more rapid progression from normal to early stages of cognitive decline and highlight the subgroup of cognitively normal elderly with SCC as those with elevated risk of progression to MCI. Copyright © 2014 American Association for Geriatric Psychiatry. Published by Elsevier Inc. All rights reserved.

  18. Brain glucose utilization in systemic lupus erythematosus with neuropsychiatric symptoms: a controlled positron emission tomography study

    Energy Technology Data Exchange (ETDEWEB)

    Otte, A. [Institute of Nuclear Medicine, University Hospital, Basel (Switzerland)]|[Department of Nuclear Medicine, University Hospital Freiburg (Germany); Weiner, S.M. [Department of Rheumatology and Immunology, University Hospital Freiburg (Germany); Peter, H.H. [Department of Rheumatology and Immunology, University Hospital Freiburg (Germany); Mueller-Brand, J. [Institute of Nuclear Medicine, University Hospital, Basel (Switzerland); Goetze, M. [Institute of Nuclear Medicine, University Hospital, Basel (Switzerland); Moser, E. [Department of Nuclear Medicine, University Hospital Freiburg (Germany); Gutfleisch, J. [Department of Rheumatology and Immunology, University Hospital Freiburg (Germany); Hoegerle, S. [Department of Nuclear Medicine, University Hospital Freiburg (Germany); Juengling, F.D. [Department of Nuclear Medicine, University Hospital Freiburg (Germany); Nitzsche, E.U. [Department of Nuclear Medicine, University Hospital Freiburg (Germany)

    1997-07-01

    In contrast to morphological imaging [such as magnetic resonance imaging (MRI) or computed tomography], functional imaging may be of advantage in the detection of brain abnormalities in cases of neuropsychiatric systemic lupus erythematosus (SLE). Therefore, we studied 13 patients (aged 40{+-}14 years, 11 female, 2 male) with neuropsychiatric SLE who met four of the American Rheumatism Association criteria for the classification of SLE. Ten clinically and neurologically healthy volunteers served as controls (aged 40{+-}12 years, 5 female, 5 male). Both groups were investigated using fluorine-18-labelled fluorodeoxyglucose brain positron emission tomography (PET) and cranial MRI. The normal controls and 11 of the 13 patients showed normal MRI scans. However, PET scan was abnormal in all 13 SLE patients. Significant group-to-group differences in the glucose metabolic index (GMI=region of interest uptake/global uptake at the level of the basal ganglia and thalamus) were found in the parieto-occipital region on both sides: the GMI of the parieto-occipital region on the right side was 0.922{+-}0.045 in patients and 1.066{+-}0.081 in controls (P<0.0001, Mann Whitney U test), while on the left side it was 0.892{+-}0.060 in patients and 1.034{+-}0.051 in controls (P=0.0002). Parieto-occipital hypometabolism is a conspicuous finding in mainly MRI-negative neuropsychiatric SLE. As the parieto-occipital region is located at the boundary of blood supply of all three major arteries, it could be the most vulnerable zone of the cerebrum and may be affected at an early stage of the cerebrovascular disease. (orig.). With 1 fig., 1 tab.

  19. Brain glucose utilization in systemic lupus erythematosus with neuropsychiatric symptoms: a controlled positron emission tomography study

    International Nuclear Information System (INIS)

    Otte, A.; Weiner, S.M.; Peter, H.H.; Mueller-Brand, J.; Goetze, M.; Moser, E.; Gutfleisch, J.; Hoegerle, S.; Juengling, F.D.; Nitzsche, E.U.

    1997-01-01

    In contrast to morphological imaging [such as magnetic resonance imaging (MRI) or computed tomography], functional imaging may be of advantage in the detection of brain abnormalities in cases of neuropsychiatric systemic lupus erythematosus (SLE). Therefore, we studied 13 patients (aged 40±14 years, 11 female, 2 male) with neuropsychiatric SLE who met four of the American Rheumatism Association criteria for the classification of SLE. Ten clinically and neurologically healthy volunteers served as controls (aged 40±12 years, 5 female, 5 male). Both groups were investigated using fluorine-18-labelled fluorodeoxyglucose brain positron emission tomography (PET) and cranial MRI. The normal controls and 11 of the 13 patients showed normal MRI scans. However, PET scan was abnormal in all 13 SLE patients. Significant group-to-group differences in the glucose metabolic index (GMI=region of interest uptake/global uptake at the level of the basal ganglia and thalamus) were found in the parieto-occipital region on both sides: the GMI of the parieto-occipital region on the right side was 0.922±0.045 in patients and 1.066±0.081 in controls (P<0.0001, Mann Whitney U test), while on the left side it was 0.892±0.060 in patients and 1.034±0.051 in controls (P=0.0002). Parieto-occipital hypometabolism is a conspicuous finding in mainly MRI-negative neuropsychiatric SLE. As the parieto-occipital region is located at the boundary of blood supply of all three major arteries, it could be the most vulnerable zone of the cerebrum and may be affected at an early stage of the cerebrovascular disease. (orig.). With 1 fig., 1 tab

  20. Psykomotorisk behandling og wellness til personer med demens

    DEFF Research Database (Denmark)

    Stamp, Anne Schinkel; Frausing, Kristian Park

    Rapporten evaluerer projektet Psykomotorisk behandling af personer med demens gennem fokusgruppeinterviews med deltagende studerende og personale fra deltagende centre. Samlet peges der på gavnligt udbytte for de demente beboere samt både personligt og fagligt udbytte for de deltagende studerende...

  1. Inkludering av ungdom med minoritetsbakgrunn i NIF-organisert idrett

    Directory of Open Access Journals (Sweden)

    Mari Kristin Sisjord

    2014-10-01

    Full Text Available Norges Idrettsforbund og Olympiske og Paralympiske Komité (NIF har en uttalt målsetting om en åpen og inkluderende idrett. Hvordan kommer dette til uttrykk i den praktiske virksomheten? Denne artikkelen, som bygger på data fra en undersøkelse om likestilling og mangfold i den organiserte idretten (NIF, retter søkelyset mot arbeid med inklusjon av ungdom med minoritetsbakgrunn på ulike organisasjonsnivå i NIF: særforbund, idrettskretser og idrettslag. Datamaterialet er kvalitative intervju med representanter fra ulike organisasjonsnivå. Resultatene viser at NIFs overordnede politikk i varierende grad nedfelles i særforbundenes virksomhet, i idrettskretsene og i idrettslagene. Av særforbundene skiller Fotballforbundet og Klatreforbundet seg ut som aktive pådrivere i arbeidet med inkludering. Mange idrettslag oppfattet slike spørsmål som lite aktuelle i sitt rekrutteringsområde. Representanter for lag som hadde erfaring med inkludering og rekruttering av minoritetsungdom, tilkjennega varierte erfaringer og synspunkter.

  2. Risk of neuropsychiatric adverse events associated with varenicline: systematic review and meta-analysis.

    Science.gov (United States)

    Thomas, Kyla H; Martin, Richard M; Knipe, Duleeka W; Higgins, Julian P T; Gunnell, David

    2015-03-12

    To determine the risk of neuropsychiatric adverse events associated with use of varenicline compared with placebo in randomised controlled trials. Systematic review and meta-analysis comparing study effects using two summary estimates in fixed effects models, risk differences, and Peto odds ratios. Medline, Embase, PsycINFO, the Cochrane Central Register of Controlled Trials (CENTRAL), and clinicaltrials.gov. Randomised controlled trials with a placebo comparison group that reported on neuropsychiatric adverse events (depression, suicidal ideation, suicide attempt, suicide, insomnia, sleep disorders, abnormal dreams, somnolence, fatigue, anxiety) and death. Studies that did not involve human participants, did not use the maximum recommended dose of varenicline (1 mg twice daily), and were cross over trials were excluded. In the 39 randomised controlled trials (10,761 participants), there was no evidence of an increased risk of suicide or attempted suicide (odds ratio 1.67, 95% confidence interval 0.33 to 8.57), suicidal ideation (0.58, 0.28 to 1.20), depression (0.96, 0.75 to 1.22), irritability (0.98, 0.81 to 1.17), aggression (0.91, 0.52 to 1.59), or death (1.05, 0.47 to 2.38) in the varenicline users compared with placebo users. Varenicline was associated with an increased risk of sleep disorders (1.63, 1.29 to 2.07), insomnia (1.56, 1.36 to 1.78), abnormal dreams (2.38, 2.05 to 2.77), and fatigue (1.28, 1.06 to 1.55) but a reduced risk of anxiety (0.75, 0.61 to 0.93). Similar findings were observed when risk differences were reported. There was no evidence for a variation in depression and suicidal ideation by age group, sex, ethnicity, smoking status, presence or absence of psychiatric illness, and type of study sponsor (that is, pharmaceutical industry or other). This meta-analysis found no evidence of an increased risk of suicide or attempted suicide, suicidal ideation, depression, or death with varenicline. These findings provide some reassurance for users

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

    Directory of Open Access Journals (Sweden)

    Fabricio F. de Oliveira

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

  4. Professionalisme med innovativt potentiale

    DEFF Research Database (Denmark)

    Nielsen, Inger Marie

    To teoretiske sværvægtere bliver koblet sammen i Inger Marie Larsen-Nielsen arbejdspapir om professionalisme med innovativt potentiale. De to teoretikere er læringsteoretikeren John Dewey og socialpsykologen Georg Herbert Mead, som er sat sammen i en teoretisk forståelsesramme omkring professionel...

  5. Recessive multiple epiphyseal dysplasia (rMED with homozygosity for C653S mutation in the DTDST gene - Phenotype, molecular diagnosis and surgical treatment of habitual dislocation of multilayered patella: Case report

    Directory of Open Access Journals (Sweden)

    Bonafé Luisa

    2010-06-01

    Full Text Available Abstract Background Multiple epiphyseal dysplasia (MED is one of the more common generalised skeletal dysplasias. Due to its clinical heterogeneity diagnosis may be difficult. Mutations of at least six separate genes can cause MED. Joint deformities, joint pain and gait disorders are common symptoms. Case Presentation We report on a 27-year-old male patient suffering from clinical symptoms of autosomal recessive MED with habitual dislocation of a multilayered patella on both sides, on the surgical treatment and on short-term clinical outcome. Clinical findings were: bilateral hip and knee pain, instability of femorotibial and patellofemoral joints with habitual patella dislocation on both sides, contractures of hip, elbow and second metacarpophalangeal joints. Main radiographic findings were: bilateral dislocated multilayered patella, dysplastic medial tibial plateaus, deformity of both femoral heads and osteoarthritis of the hip joints, and deformity of both radial heads. In the molecular genetic analysis, the DTDST mutation g.1984T > A (p.C653S was found at the homozygote state. Carrier status was confirmed in the DNA of the patient's parents. The mutation could be considered to be the reason for the patient's disease. Surgical treatment of habitual patella dislocation with medialisation of the tibial tuberosity led to an excellent clinical outcome. Conclusions The knowledge of different phenotypes of skeletal dysplasias helps to select genes for genetic analysis. Compared to other DTDST mutations, this is a rather mild phenotype. Molecular diagnosis is important for genetic counselling and for an accurate prognosis. Even in case of a multilayered patella in MED, habitual patella dislocation could be managed successfully by medialisation of the tibial tuberosity.

  6. Comparison of PubMed and Google Scholar literature searches.

    Science.gov (United States)

    Anders, Michael E; Evans, Dennis P

    2010-05-01

    Literature searches are essential to evidence-based respiratory care. To conduct literature searches, respiratory therapists rely on search engines to retrieve information, but there is a dearth of literature on the comparative efficiencies of search engines for researching clinical questions in respiratory care. To compare PubMed and Google Scholar search results for clinical topics in respiratory care to that of a benchmark. We performed literature searches with PubMed and Google Scholar, on 3 clinical topics. In PubMed we used the Clinical Queries search filter. In Google Scholar we used the search filters in the Advanced Scholar Search option. We used the reference list of a related Cochrane Collaboration evidence-based systematic review as the benchmark for each of the search results. We calculated recall (sensitivity) and precision (positive predictive value) with 2 x 2 contingency tables. We compared the results with the chi-square test of independence and Fisher's exact test. PubMed and Google Scholar had similar recall for both overall search results (71% vs 69%) and full-text results (43% vs 51%). PubMed had better precision than Google Scholar for both overall search results (13% vs 0.07%, P PubMed searches with the Clinical Queries filter are more precise than with the Advanced Scholar Search in Google Scholar for respiratory care topics. PubMed appears to be more practical to conduct efficient, valid searches for informing evidence-based patient-care protocols, for guiding the care of individual patients, and for educational purposes.

  7. Identification of a Syndrome Class of Neuropsychiatric Adverse Reactions to Mefloquine from Latent Class Modeling of FDA Adverse Event Reporting System Data.

    Science.gov (United States)

    Nevin, Remington L; Leoutsakos, Jeannie-Marie

    2017-03-01

    Although mefloquine use is known to be associated with a risk of severe neuropsychiatric adverse reactions that are often preceded by prodromal symptoms, specific combinations of neurologic or psychiatric reactions associated with mefloquine use are not well described in the literature. This study sought to identify a distinct neuropsychiatric syndrome class associated with mefloquine use in reports of adverse events. Latent class modeling of US Food and Drug Administration Adverse Event Reporting System (FAERS) data was performed using indicators defined by the Medical Dictionary for Regulatory Activities neurologic and psychiatric high-level group terms, in a study dataset of FAERS reports (n = 5332) of reactions to common antimalarial drugs. A distinct neuropsychiatric syndrome class was identified that was strongly and significantly associated with reports of mefloquine use (odds ratio = 3.92, 95% confidence interval 2.91-5.28), defined by a very high probability of symptoms of deliria (82.7%) including confusion and disorientation, and a moderate probability of other severe psychiatric and neurologic symptoms including dementia and amnesia (18.6%) and seizures (18.1%). The syndrome class was also associated with symptoms that are considered prodromal including anxiety, depression, sleep disturbance, and abnormal dreams, and neurological symptoms such as dizziness, vertigo, and paresthesias. This study confirms in FAERS reports the existence of a severe mefloquine neuropsychiatric syndrome class associated with common symptoms that may be considered prodromal. Clinical identification of the characteristic symptoms of this syndrome class may aid in improving case finding in pharmacovigilance studies of more serious adverse reactions to the drug.

  8. Best, Useful and Objective Precisions for Information Retrieval of Three Search Methods in PubMed and iPubMed

    Directory of Open Access Journals (Sweden)

    Somayyeh Nadi Ravandi

    2016-10-01

    Full Text Available MEDLINE is one of the valuable sources of medical information on the Internet. Among the different open access sites of MEDLINE, PubMed is the best-known site. In 2010, iPubMed was established with an interaction-fuzzy search method for MEDLINE access. In the present work, we aimed to compare the precision of the retrieved sources (Best, Useful and Objective precision in the PubMed and iPubMed using two search methods (simple and MeSH search in PubMed and interaction-fuzzy method in iPubmed. During our semi-empirical study period, we held training workshops for 61 students of higher education to teach them Simple Search, MeSH Search, and Fuzzy-Interaction Search methods. Then, the precision of 305 searches for each method prepared by the students was calculated on the basis of Best precision, Useful precision, and Objective precision formulas. Analyses were done in SPSS version 11.5 using the Friedman and Wilcoxon Test, and three precisions obtained with the three precision formulas were studied for the three search methods. The mean precision of the interaction-fuzzy Search method was higher than that of the simple search and MeSH search for all three types of precision, i.e., Best precision, Useful precision, and Objective precision, and the Simple search method was in the next rank, and their mean precisions were significantly different (P < 0.001. The precision of the interaction-fuzzy search method in iPubmed was investigated for the first time. Also for the first time, three types of precision were evaluated in PubMed and iPubmed. The results showed that the Interaction-Fuzzy search method is more precise than using the natural language search (simple search and MeSH search, and users of this method found papers that were more related to their queries; even though search in Pubmed is useful, it is important that users apply new search methods to obtain the best results.

  9. MedRate: a wearable against child mortality

    CERN Document Server

    CERN. Geneva

    2018-01-01

    In humanitarian environments, when treating the main causes of child mortality, there are two key vital constants not easily measurable: the heart beat of the foetus and respiration rate of children. During the CERN Medtech:Hack, my team came up with MedRate, an inexpensive wearable able to monitor both. Collaboration is required to make MedRate a reality. Would you join us for a more fair fight against child mortality?

  10. Sleep and circadian rhythm disruption in neuropsychiatric illness.

    Science.gov (United States)

    Jagannath, Aarti; Peirson, Stuart N; Foster, Russell G

    2013-10-01

    Sleep and circadian rhythm disruption (SCRD) is a common feature in many neuropsychiatric diseases including schizophrenia, bipolar disorder and depression. Although the precise mechanisms remain unclear, recent evidence suggests that this comorbidity is not simply a product of medication or an absence of social routine, but instead reflects commonly affected underlying pathways and mechanisms. For example, several genes intimately involved in the generation and regulation of circadian rhythms and sleep have been linked to psychiatric illness. Further, several genes linked to mental illness have recently been shown to also play a role in normal sleep and circadian behaviour. Here we describe some of the emerging common mechanisms that link circadian rhythms, sleep and SCRD in severe mental illnesses. A deeper understanding of these links will provide not only a greater understanding of disease mechanisms, but also holds the promise of novel avenues for therapeutic intervention. Copyright © 2013. Published by Elsevier Ltd.

  11. The MedAustron project: an example of large-scale technology transfer

    CERN Multimedia

    Antonella Del Rosso & Michael Benedikt

    2013-01-01

    In January this year, CERN’s Director-General Rolf Heuer handed over the first ion source to the MedAustron therapy centre in the town of Wiener Neustadt in the presence of the Austrian authorities. This milestone marks the beginning of the transition from the development and design phase to the commissioning of the new facility.   Handover of the ion source to MedAustron on 11 January, 2013. From left to right: Michael Benedikt (Project Leader MedAustron at CERN), Karlheinz Töchterle (Austrian Federal Minister of Science and Research), Erwin Pröll (Governor of Lower Austria), Rolf Heuer (Director-General CERN), Klaus Schneeberger (Lower Austrian State Parliament, Head of EBG MedAustron Council). The goal of the MedAustron project is the construction of an ion-therapy and research centre, based on a synchrotron accelerator complex, in Austria (for more about the technical part of the MedAustron project, click here). “MedAustron will be the first large-sca...

  12. The reliability and validity of the Turkish version of the Neuropsychiatric Inventory-Clinician.

    Science.gov (United States)

    Sahin Cankurtaran, Eylem; Danişman, Mustafa; Tutar, Hasan; Ulusoy Kaymak, Semra

    2015-01-01

    The Neuropsychiatric Inventory-Clinician (NPI-C) scale is one of the best-known scales for evaluating the behavioral and psychological symptoms of dementia. This study aimed to assess the reliability and validity of the Turkish version of the NPI-C scale in patients with Alzheimer disease (AD). The NPI-C scale was administered to 125 patients with AD. For reliability, both Cronbach's α and interrater reliability were analyzed. The Behavioral Pathology in Alzheimer's Disease (BEHAVE-AD) scale was applied for validity and, in addition, the Mini Mental State Examination (MMSE), Instrumental Activities of Daily Living (IADL) scale, and Disability Assessment of Dementia (DAD) scale were completed. The Turkish version of the NPI-C scale showed high internal consistency (Cronbach's α = 0.75) and mostly good interrater reliability. Assessments of validity showed that the NPI-C and corresponding BEHAVE-AD domains were found to be significantly correlated, between 0.925 and 0.195. Moreover, the correlations between NPI-C and MMSE were significant for all domains except the dysphoria, anxiety, and elation/euphoria domains. When we conducted a correlation analysis of NPI-C with IADL, all domains were statistically significantly correlated except aggression, anxiety, elation/euphoria, and dysphoria. The Turkish version of the NPI-C scale was found to be a reliable and valid instrument to assess neuropsychiatric symptoms in Turkish elderly subjects with AD.

  13. The physical environment influences neuropsychiatric symptoms and other outcomes in assisted living residents.

    Science.gov (United States)

    Bicket, Mark C; Samus, Quincy M; McNabney, Mathew; Onyike, Chiadi U; Mayer, Lawrence S; Brandt, Jason; Rabins, Peter; Lyketsos, Constantine; Rosenblatt, Adam

    2010-10-01

    Although the number of elderly residents living in assisted living (AL) facilities is rising, few studies have examined the AL physical environment and its impact on resident well-being. We sought to quantify the relationship of AL physical environment with resident outcomes including neuropsychiatric symptoms (NPS), quality of life (QOL), and fall risk, and to compare the effects for demented and non-demented residents. Prospective cohort study of a stratified random sample of 326 AL residents living in 21 AL facilities. Measures included the Therapeutic Environmental Screening Scale for Nursing Homes and Residential Care (TESS-NH/RC) to rate facilities and in-person assessment of residents for diagnosis (and assessment of treatment) of dementia, ratings on standardized clinical, cognitive, and QOL measures. Regression models compared environmental measures with outcomes. TESS-NH/RC is modified into a scale for rating the AL physical environment AL-EQS. The AL Environmental Quality Score (AL-EQS) was strongly negatively associated with Neuropsychiatric Inventory (NPI) total score (p environment of AL facilities likely affects NPS and QOL in AL residents, and the effect may be stronger for residents without dementia than for residents with dementia. Environmental manipulations that increase resident privacy, as well as implementing call buttons and telephones, may improve resident well-being. Copyright © 2010 John Wiley & Sons, Ltd.

  14. LRRK2 G2019S mutation in Parkinson's disease: a neuropsychological and neuropsychiatric study in a large Algerian cohort.

    Science.gov (United States)

    Belarbi, Soreya; Hecham, Nassima; Lesage, Suzanne; Kediha, Mohamed I; Smail, Nourredine; Benhassine, Traki; Ysmail-Dahlouk, Farida; Lohman, Ebba; Benhabyles, Badia; Hamadouche, Tarik; Assami, Salima; Brice, Alexis; Tazir, Meriem

    2010-12-01

    A series of 106 patients with isolated or familial Parkinsonism underwent clinical evaluation and genetic testing for the LRRK2 G2019S mutation which was identified in 34/106 patients (32%). Seventy one of them accepted to be evaluated for neuropsychological and neuropsychiatric studies with the aim to compare mutation carriers with non-carriers. For neuropsychological testing, comparisons between LRRK2 G2019S carriers and non-carriers were made after stratification according to the level of education: median and high school versus low level. Memory was investigated with the five words test, 2 novel tests with verbalized visual material dedicated to illiterate patients, the TNI-93 (nine pictures test), The TMA-93 (associative memory test), and digit spans (forward/backward). Cognitive analyse did not show major differences between the two groups of patients. Nevertheless, behavioral abnormalities, mostly depression and hallucinations, were more frequent in the LRRK2 G2019S carriers, suggesting the presence of a greater involvement of the limbic system in these patients. Sleep disorders which were also more common amongst mutation carriers than non-carriers might be related to depression. Copyright © 2010 Elsevier Ltd. All rights reserved.

  15. Common genetic variants influence human subcortical brain structures

    Science.gov (United States)

    Hibar, Derrek P.; Stein, Jason L.; Renteria, Miguel E.; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S.; Armstrong, Nicola J.; Bernard, Manon; Bohlken, Marc M.; Boks, Marco P.; Bralten, Janita; Brown, Andrew A.; Chakravarty, M. Mallar; Chen, Qiang; Ching, Christopher R. K.; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L.; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J.; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H.; Olde Loohuis, Loes M.; Luciano, Michelle; Macare, Christine; Mather, Karen A.; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L.; Roiz-Santiañez, Roberto; Rose, Emma J.; Salami, Alireza; Sämann, Philipp G.; Schmaal, Lianne; Schork, Andrew J.; Shin, Jean; Strike, Lachlan T.; Teumer, Alexander; van Donkelaar, Marjolein M. J.; van Eijk, Kristel R.; Walters, Raymond K.; Westlye, Lars T.; Whelan, Christopher D.; Winkler, Anderson M.; Zwiers, Marcel P.; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M. H.; Hartberg, Cecilie B.; Haukvik, Unn K.; Heister, Angelien J. G. A. M.; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C. M.; Lopez, Lorna M.; Makkinje, Remco R. R.; Matarin, Mar; Naber, Marlies A. M.; McKay, D. Reese; Needham, Margaret; Nugent, Allison C.; Pütz, Benno; Royle, Natalie A.; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S. L.; van Hulzen, Kimm J. E.; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A.; Bastin, Mark E.; Brodaty, Henry; Bulayeva, Kazima B.; Carless, Melanie A.; Cichon, Sven; Corvin, Aiden; Curran, Joanne E.; Czisch, Michael; de Zubicaray, Greig I.; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D.; Erk, Susanne; Fedko, Iryna O.; Ferrucci, Luigi; Foroud, Tatiana M.; Fox, Peter T.; Fukunaga, Masaki; Gibbs, J. Raphael; Göring, Harald H. H.; Green, Robert C.; Guelfi, Sebastian; Hansell, Narelle K.; Hartman, Catharina A.; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G.; Heslenfeld, Dirk J.; Hoekstra, Pieter J.; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R.; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W.; Kochunov, Peter; Kwok, John B.; Lawrie, Stephen M.; Liu, Xinmin; Longo, Dan L.; McMahon, Katie L.; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W.; Mostert, Jeanette C.; Mühleisen, Thomas W.; Nalls, Michael A.; Nichols, Thomas E.; Nilsson, Lars G.; Nöthen, Markus M.; Ohi, Kazutaka; Olvera, Rene L.; Perez-Iglesias, Rocio; Pike, G. Bruce; Potkin, Steven G.; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D.; Rujescu, Dan; Schnell, Knut; Schofield, Peter R.; Smith, Colin; Steen, Vidar M.; Sussmann, Jessika E.; Thalamuthu, Anbupalam; Toga, Arthur W.; Traynor, Bryan J.; Troncoso, Juan; Turner, Jessica A.; Valdés Hernández, Maria C.; van ’t Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J. A.; van Tol, Marie-Jose; Veltman, Dick J.; Wassink, Thomas H.; Westman, Eric; Zielke, Ronald H.; Zonderman, Alan B.; Ashbrook, David G.; Hager, Reinmar; Lu, Lu; McMahon, Francis J.; Morris, Derek W.; Williams, Robert W.; Brunner, Han G.; Buckner, Randy L.; Buitelaar, Jan K.; Cahn, Wiepke; Calhoun, Vince D.; Cavalleri, Gianpiero L.; Crespo-Facorro, Benedicto; Dale, Anders M.; Davies, Gareth E.; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C.; Espeseth, Thomas; Gollub, Randy L.; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S.; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W. J. H.; Roffman, Joshua L.; Sisodiya, Sanjay M.; Smoller, Jordan W.; van Bokhoven, Hans; van Haren, Neeltje E. M.; Völzke, Henry; Walter, Henrik; Weiner, Michael W.; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A.; Blangero, John; Boomsma, Dorret I.; Brouwer, Rachel M.; Cannon, Dara M.; Cookson, Mark R.; de Geus, Eco J. C.; Deary, Ian J.; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E.; Francks, Clyde; Glahn, David C.; Grabe, Hans J.; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E.; Jönsson, Erik G.; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S.; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M.; Ophoff, Roel A.; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S.; Saykin, Andrew J.; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M.; Weale, Michael E.; Weinberger, Daniel R.; Adams, Hieab H. H.; Launer, Lenore J.; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L.; Becker, James T.; Yanek, Lisa; van der Lee, Sven J.; Ebling, Maritza; Fischl, Bruce; Longstreth, W. T.; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N.; van Duijn, Cornelia M.; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C.; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M. Arfan; Martin, Nicholas G.; Wright, Margaret J.; Schumann, Gunter; Franke, Barbara; Thompson, Paul M.; Medland, Sarah E.

    2015-01-01

    The highly complex structure of the human brain is strongly shaped by genetic influences1. Subcortical brain regions form circuits with cortical areas to coordinate movement2, learning, memory3 and motivation4, and altered circuits can lead to abnormal behaviour and disease2. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume5 and intracranial volume6. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10−33; 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability inhuman brain development, and may help to determine mechanisms of neuropsychiatric dysfunction. PMID:25607358

  16. Common genetic variants influence human subcortical brain structures.

    Science.gov (United States)

    Hibar, Derrek P; Stein, Jason L; Renteria, Miguel E; Arias-Vasquez, Alejandro; Desrivières, Sylvane; Jahanshad, Neda; Toro, Roberto; Wittfeld, Katharina; Abramovic, Lucija; Andersson, Micael; Aribisala, Benjamin S; Armstrong, Nicola J; Bernard, Manon; Bohlken, Marc M; Boks, Marco P; Bralten, Janita; Brown, Andrew A; Chakravarty, M Mallar; Chen, Qiang; Ching, Christopher R K; Cuellar-Partida, Gabriel; den Braber, Anouk; Giddaluru, Sudheer; Goldman, Aaron L; Grimm, Oliver; Guadalupe, Tulio; Hass, Johanna; Woldehawariat, Girma; Holmes, Avram J; Hoogman, Martine; Janowitz, Deborah; Jia, Tianye; Kim, Sungeun; Klein, Marieke; Kraemer, Bernd; Lee, Phil H; Olde Loohuis, Loes M; Luciano, Michelle; Macare, Christine; Mather, Karen A; Mattheisen, Manuel; Milaneschi, Yuri; Nho, Kwangsik; Papmeyer, Martina; Ramasamy, Adaikalavan; Risacher, Shannon L; Roiz-Santiañez, Roberto; Rose, Emma J; Salami, Alireza; Sämann, Philipp G; Schmaal, Lianne; Schork, Andrew J; Shin, Jean; Strike, Lachlan T; Teumer, Alexander; van Donkelaar, Marjolein M J; van Eijk, Kristel R; Walters, Raymond K; Westlye, Lars T; Whelan, Christopher D; Winkler, Anderson M; Zwiers, Marcel P; Alhusaini, Saud; Athanasiu, Lavinia; Ehrlich, Stefan; Hakobjan, Marina M H; Hartberg, Cecilie B; Haukvik, Unn K; Heister, Angelien J G A M; Hoehn, David; Kasperaviciute, Dalia; Liewald, David C M; Lopez, Lorna M; Makkinje, Remco R R; Matarin, Mar; Naber, Marlies A M; McKay, D Reese; Needham, Margaret; Nugent, Allison C; Pütz, Benno; Royle, Natalie A; Shen, Li; Sprooten, Emma; Trabzuni, Daniah; van der Marel, Saskia S L; van Hulzen, Kimm J E; Walton, Esther; Wolf, Christiane; Almasy, Laura; Ames, David; Arepalli, Sampath; Assareh, Amelia A; Bastin, Mark E; Brodaty, Henry; Bulayeva, Kazima B; Carless, Melanie A; Cichon, Sven; Corvin, Aiden; Curran, Joanne E; Czisch, Michael; de Zubicaray, Greig I; Dillman, Allissa; Duggirala, Ravi; Dyer, Thomas D; Erk, Susanne; Fedko, Iryna O; Ferrucci, Luigi; Foroud, Tatiana M; Fox, Peter T; Fukunaga, Masaki; Gibbs, J Raphael; Göring, Harald H H; Green, Robert C; Guelfi, Sebastian; Hansell, Narelle K; Hartman, Catharina A; Hegenscheid, Katrin; Heinz, Andreas; Hernandez, Dena G; Heslenfeld, Dirk J; Hoekstra, Pieter J; Holsboer, Florian; Homuth, Georg; Hottenga, Jouke-Jan; Ikeda, Masashi; Jack, Clifford R; Jenkinson, Mark; Johnson, Robert; Kanai, Ryota; Keil, Maria; Kent, Jack W; Kochunov, Peter; Kwok, John B; Lawrie, Stephen M; Liu, Xinmin; Longo, Dan L; McMahon, Katie L; Meisenzahl, Eva; Melle, Ingrid; Mohnke, Sebastian; Montgomery, Grant W; Mostert, Jeanette C; Mühleisen, Thomas W; Nalls, Michael A; Nichols, Thomas E; Nilsson, Lars G; Nöthen, Markus M; Ohi, Kazutaka; Olvera, Rene L; Perez-Iglesias, Rocio; Pike, G Bruce; Potkin, Steven G; Reinvang, Ivar; Reppermund, Simone; Rietschel, Marcella; Romanczuk-Seiferth, Nina; Rosen, Glenn D; Rujescu, Dan; Schnell, Knut; Schofield, Peter R; Smith, Colin; Steen, Vidar M; Sussmann, Jessika E; Thalamuthu, Anbupalam; Toga, Arthur W; Traynor, Bryan J; Troncoso, Juan; Turner, Jessica A; Valdés Hernández, Maria C; van 't Ent, Dennis; van der Brug, Marcel; van der Wee, Nic J A; van Tol, Marie-Jose; Veltman, Dick J; Wassink, Thomas H; Westman, Eric; Zielke, Ronald H; Zonderman, Alan B; Ashbrook, David G; Hager, Reinmar; Lu, Lu; McMahon, Francis J; Morris, Derek W; Williams, Robert W; Brunner, Han G; Buckner, Randy L; Buitelaar, Jan K; Cahn, Wiepke; Calhoun, Vince D; Cavalleri, Gianpiero L; Crespo-Facorro, Benedicto; Dale, Anders M; Davies, Gareth E; Delanty, Norman; Depondt, Chantal; Djurovic, Srdjan; Drevets, Wayne C; Espeseth, Thomas; Gollub, Randy L; Ho, Beng-Choon; Hoffmann, Wolfgang; Hosten, Norbert; Kahn, René S; Le Hellard, Stephanie; Meyer-Lindenberg, Andreas; Müller-Myhsok, Bertram; Nauck, Matthias; Nyberg, Lars; Pandolfo, Massimo; Penninx, Brenda W J H; Roffman, Joshua L; Sisodiya, Sanjay M; Smoller, Jordan W; van Bokhoven, Hans; van Haren, Neeltje E M; Völzke, Henry; Walter, Henrik; Weiner, Michael W; Wen, Wei; White, Tonya; Agartz, Ingrid; Andreassen, Ole A; Blangero, John; Boomsma, Dorret I; Brouwer, Rachel M; Cannon, Dara M; Cookson, Mark R; de Geus, Eco J C; Deary, Ian J; Donohoe, Gary; Fernández, Guillén; Fisher, Simon E; Francks, Clyde; Glahn, David C; Grabe, Hans J; Gruber, Oliver; Hardy, John; Hashimoto, Ryota; Hulshoff Pol, Hilleke E; Jönsson, Erik G; Kloszewska, Iwona; Lovestone, Simon; Mattay, Venkata S; Mecocci, Patrizia; McDonald, Colm; McIntosh, Andrew M; Ophoff, Roel A; Paus, Tomas; Pausova, Zdenka; Ryten, Mina; Sachdev, Perminder S; Saykin, Andrew J; Simmons, Andy; Singleton, Andrew; Soininen, Hilkka; Wardlaw, Joanna M; Weale, Michael E; Weinberger, Daniel R; Adams, Hieab H H; Launer, Lenore J; Seiler, Stephan; Schmidt, Reinhold; Chauhan, Ganesh; Satizabal, Claudia L; Becker, James T; Yanek, Lisa; van der Lee, Sven J; Ebling, Maritza; Fischl, Bruce; Longstreth, W T; Greve, Douglas; Schmidt, Helena; Nyquist, Paul; Vinke, Louis N; van Duijn, Cornelia M; Xue, Luting; Mazoyer, Bernard; Bis, Joshua C; Gudnason, Vilmundur; Seshadri, Sudha; Ikram, M Arfan; Martin, Nicholas G; Wright, Margaret J; Schumann, Gunter; Franke, Barbara; Thompson, Paul M; Medland, Sarah E

    2015-04-09

    The highly complex structure of the human brain is strongly shaped by genetic influences. Subcortical brain regions form circuits with cortical areas to coordinate movement, learning, memory and motivation, and altered circuits can lead to abnormal behaviour and disease. To investigate how common genetic variants affect the structure of these brain regions, here we conduct genome-wide association studies of the volumes of seven subcortical regions and the intracranial volume derived from magnetic resonance images of 30,717 individuals from 50 cohorts. We identify five novel genetic variants influencing the volumes of the putamen and caudate nucleus. We also find stronger evidence for three loci with previously established influences on hippocampal volume and intracranial volume. These variants show specific volumetric effects on brain structures rather than global effects across structures. The strongest effects were found for the putamen, where a novel intergenic locus with replicable influence on volume (rs945270; P = 1.08 × 10(-33); 0.52% variance explained) showed evidence of altering the expression of the KTN1 gene in both brain and blood tissue. Variants influencing putamen volume clustered near developmental genes that regulate apoptosis, axon guidance and vesicle transport. Identification of these genetic variants provides insight into the causes of variability in human brain development, and may help to determine mechanisms of neuropsychiatric dysfunction.

  17. The overlap of delirium with neuropsychiatric symptoms among patients with dementia.

    Science.gov (United States)

    Hölttä, Eeva; Laakkonen, Marja-Liisa; Laurila, Jouko V; Strandberg, Timo E; Tilvis, Reijo; Kautiainen, Hannu; Pitkälä, Kaisu H

    2011-12-01

    To study the frequency of overlapping of delirium with neuropsychiatric symptoms (NPS) among patients with dementia, and to investigate the prognostic value of delirium, multiple NPS without delirium, or neither during a 2-year follow-up. We assessed 425 consecutive patients in acute geriatric wards and in seven nursing homes in Helsinki. Those 255 suffering from dementia were examined for NPS of dementia described in the Neuropsychiatric Inventory (delusions, hallucinations, agitation/aggression, depression/low mood, anxiety, euphoria/elation, apathy, disinhibition, irritability/mood changes, and aberrant motor behavior) and for delirium criteria according to the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition (DSM-IV). Patients were categorized into three groups: delirium with or without multiple NPS (delirium group), multiple NPS without delirium (multiple NPS group), or having neither delirium nor multiple NPS (zero or only one NPS group). A total of 66 patients suffered from delirium according to the DSM-IV, 127 had multiple NPS without delirium, and 62 had neither multiple NPS nor delirium. In the delirium group 61 individuals (92.4%) were deceased or residing in permanent institutional care at the end of the 2-year follow up period, compared to 100 individuals (78.7%) in the multiple NPS group and 48 (77.4%) in the zero or one NPS group (Pearson χ² = 6.64, df 2, p = 0.036). In logistic regression analysis adjusted for age, sex, and comorbidities, delirium was an independent predictor of this composite outcome (OR: 4.3, 95% CI: 1.4-13.6). Patient groups with symptoms of delirium and multiple NPS are highly overlapping. The presence of delirium indicates poor prognosis.

  18. Arbejdspladsvurdering i små virksomheder med 1-4 ansatte

    DEFF Research Database (Denmark)

    Hasle, Peter; Esben, Dalskinn

    En analyse af mulighederne for at gennemføre arbejdspladsvurdering i mikrovirksomheder med 1-4 ansatte.......En analyse af mulighederne for at gennemføre arbejdspladsvurdering i mikrovirksomheder med 1-4 ansatte....

  19. PubMed Interact: an Interactive Search Application for MEDLINE/PubMed

    Science.gov (United States)

    Muin, Michael; Fontelo, Paul; Ackerman, Michael

    2006-01-01

    Online search and retrieval systems are important resources for medical literature research. Progressive Web 2.0 technologies provide opportunities to improve search strategies and user experience. Using PHP, Document Object Model (DOM) manipulation and Asynchronous JavaScript and XML (Ajax), PubMed Interact allows greater functionality so users can refine search parameters with ease and interact with the search results to retrieve and display relevant information and related articles. PMID:17238658

  20. En definitionssandhed med modifikationer

    DEFF Research Database (Denmark)

    Holtermann, Jakob v. H.; Olsen, Henrik Palmer

    2013-01-01

    Denne artikel indgår i den debat om retskildebegrebet, der tidligere har været rejst af Jens Ravnkilde. Forfatterne påviser flere svagheder i Ravnkildes argumentation, herunder at han ignorerer hele den internationale diskussion på området, samtidig med at han baserer sit eget angiveligt nyudvikl...

  1. Social cognition and neural substrates of face perception: implications for neurodevelopmental and neuropsychiatric disorders.

    Science.gov (United States)

    Lazar, Steven M; Evans, David W; Myers, Scott M; Moreno-De Luca, Andres; Moore, Gregory J

    2014-04-15

    Social cognition is an important aspect of social behavior in humans. Social cognitive deficits are associated with neurodevelopmental and neuropsychiatric disorders. In this study we examine the neural substrates of social cognition and face processing in a group of healthy young adults to examine the neural substrates of social cognition. Fifty-seven undergraduates completed a battery of social cognition tasks and were assessed with electroencephalography (EEG) during a face-perception task. A subset (N=22) were administered a face-perception task during functional magnetic resonance imaging. Variance in the N170 EEG was predicted by social attribution performance and by a quantitative measure of empathy. Neurally, face processing was more bilateral in females than in males. Variance in fMRI voxel count in the face-sensitive fusiform gyrus was predicted by quantitative measures of social behavior, including the Social Responsiveness Scale (SRS) and the Empathizing Quotient. When measured as a quantitative trait, social behaviors in typical and pathological populations share common neural pathways. The results highlight the importance of viewing neurodevelopmental and neuropsychiatric disorders as spectrum phenomena that may be informed by studies of the normal distribution of relevant traits in the general population. Copyright © 2014 Elsevier B.V. All rights reserved.

  2. Analys av nickel med ICP-MS

    OpenAIRE

    Wallman, Karin; Löfgren, Stefan; Sonesten, Lars; Demandt, Christian

    2009-01-01

    Vid en granskning av nickelhalter för perioden 1985-2007 upptäcktes ett nivåskifte i tidsserierna på flera stationer mellan 2001 och 2002. Skiftet visade sig bero på att prover innan 2002 inte korrigerades för kalciuminterferens, medan prover under åren 2002-2007 korrigerades. Syftet med denna rapport är att utreda om resultaten före 2002 i efterhand kan korrigeras för kalciuminterferensen. Från 2002 finns ett antal prover (N=347) med resultat som både är kalciumkorrigerade och som inte är de...

  3. Tur-samspil i musikterapi med børn med svære kommunikationsvanskeligheder

    DEFF Research Database (Denmark)

    Holck, Ulla

    2006-01-01

    Tur-samspil udgør en vigtig grundsten i den tidlige sociale og kommunikative udvikling, og optræder ofte i musikterapeutiske samspil med kommunikationssvage børn. Artiklen præsenterer relevante begreber fra faglitteraturen om tur-samspil i voksendialoger (de såkaldte Konversationsanalyser), som k...

  4. Genetics Home Reference: proximal 18q deletion syndrome

    Science.gov (United States)

    ... characteristic features. Most cases of proximal 18q deletion syndrome are the result of a new (de novo) deletion and are not inherited from a ... J, Fox PT, Stratton RF, Perry B, Hale DE. Recurrent interstitial deletions of proximal 18q: a new syndrome involving expressive speech delay. Am J Med Genet ...

  5. The post-synaptic density of human postmortem brain tissues: an experimental study paradigm for neuropsychiatric illnesses.

    Directory of Open Access Journals (Sweden)

    Chang-Gyu Hahn

    Full Text Available Recent molecular genetics studies have suggested various trans-synaptic processes for pathophysiologic mechanisms of neuropsychiatric illnesses. Examination of pre- and post-synaptic scaffolds in the brains of patients would greatly aid further investigation, yet such an approach in human postmortem tissue has yet to be tested. We have examined three methods using density gradient based purification of synaptosomes followed by detergent extraction (Method 1 and the pH based differential extraction of synaptic membranes (Methods 2 and 3. All three methods separated fractions from human postmortem brains that were highly enriched in typical PSD proteins, almost to the exclusion of pre-synaptic proteins. We examined these fractions using electron microscopy (EM and verified the integrity of the synaptic membrane and PSD fractions derived from human postmortem brain tissues. We analyzed protein composition of the PSD fractions using two dimensional liquid chromatography tandem mass spectrometry (2D LC-MS/MS and observed known PSD proteins by mass spectrometry. Immunoprecipitation and immunoblot studies revealed that expected protein-protein interactions and certain posttranscriptional modulations were maintained in PSD fractions. Our results demonstrate that PSD fractions can be isolated from human postmortem brain tissues with a reasonable degree of integrity. This approach may foster novel postmortem brain research paradigms in which the stoichiometry and protein composition of specific microdomains are examined.

  6. Musikterapi med kontakt- og kommunikationssvage børn

    DEFF Research Database (Denmark)

    Frederiksen, Britta Vinkler

    2009-01-01

    I artiklen beskrives, hvordan musikterapi er med til at støtte en målrettet udviklingsproces hos børn, med diagnoser som Asperger syndrom, autisme, opmærksomhedsforstyrrelser, ADHD o.lign. Musikkens kvaliteter beskrives og illustreres gennem vignetter fra terapiforløb, der alle er foregået i Klinik...

  7. Mediterranean Diet Adherence and Genetic Background Roles within a Web-Based Nutritional Intervention: The Food4Me Study

    Directory of Open Access Journals (Sweden)

    Rodrigo San-Cristobal

    2017-10-01

    Full Text Available Mediterranean Diet (MedDiet adherence has been proven to produce numerous health benefits. In addition, nutrigenetic studies have explained some individual variations in the response to specific dietary patterns. The present research aimed to explore associations and potential interactions between MedDiet adherence and genetic background throughout the Food4Me web-based nutritional intervention. Dietary, anthropometrical and biochemical data from volunteers of the Food4Me study were collected at baseline and after 6 months. Several genetic variants related to metabolic risk features were also analysed. A Genetic Risk Score (GRS was derived from risk alleles and a Mediterranean Diet Score (MDS, based on validated food intake data, was estimated. At baseline, there were no interactions between GRS and MDS categories for metabolic traits. Linear mixed model repeated measures analyses showed a significantly greater decrease in total cholesterol in participants with a low GRS after a 6-month period, compared to those with a high GRS. Meanwhile, a high baseline MDS was associated with greater decreases in Body Mass Index (BMI, waist circumference and glucose. There also was a significant interaction between GRS and the MedDiet after the follow-up period. Among subjects with a high GRS, those with a high MDS evidenced a highly significant reduction in total carotenoids, while among those with a low GRS, there was no difference associated with MDS levels. These results suggest that a higher MedDiet adherence induces beneficial effects on metabolic outcomes, which can be affected by the genetic background in some specific markers.

  8. Ødelæg alt muligt med et bogstav

    DEFF Research Database (Denmark)

    Konzack, Lars

    2017-01-01

    En gang imellem griber en raptus SoMe-Danmark, og så fyldes alles feed med samme slags indhold. Senest overspringshandlede vi med hashtagget #oedelaeg1filmed1bogstav - og alle mulige afledninger af det....

  9. Psychometric properties of a sign language version of the Mini International Neuropsychiatric Interview (MINI)

    OpenAIRE

    Øhre, Beate; Saltnes, Hege; von Tetzchner, Stephen; Falkum, Erik

    2014-01-01

    Background There is a need for psychiatric assessment instruments that enable reliable diagnoses in persons with hearing loss who have sign language as their primary language. The objective of this study was to assess the validity of the Norwegian Sign Language (NSL) version of the Mini International Neuropsychiatric Interview (MINI). Methods The MINI was translated into NSL. Forty-one signing patients consecutively referred to two specialised psychiatric units were assessed with a diagnos...

  10. PubMed Medical Publications From Libya | Bakoush | Libyan ...

    African Journals Online (AJOL)

    We also used the same method to obtain data on the PubMed medical publications from Tunisia, Morocco and Yemen. Tunisia had the largest number of PubMed publications among the studied countries: 20.4 publications per million population per year and 7.2 publications per year per one billion US$ GDP. Libya had ...

  11. Neuropsychiatric and cardiometabolic comorbidities in patients with previously diagnosed Cushing's disease: a longitudinal observational study

    OpenAIRE

    Dimopoulou, C; Geraedts, V; Stalla, G K; Sievers, C

    2015-01-01

    INTRODUCTION: Only few studies have systematically investigated neuropsychiatric aspects in patients with Cushing's disease (CD). Pain syndromes have been described in patients with pituitary adenomas, but so far no systematical investigation has been conducted in patients with CD. Additionally, CD has an association with cardiometabolic comorbidities which ultimately leads to increased morbidity and mortality. Long-term treatment of the hypercortisolic state cannot prevent the persistence of...

  12. MedlinePlus FAQ: MedlinePlus and MEDLINE/PubMed

    Science.gov (United States)

    ... What is the difference between MedlinePlus and MEDLINE/PubMed? To use the sharing features on this page, ... latest health professional articles on your topic. MEDLINE/PubMed: Is a database of professional biomedical literature Is ...

  13. Changes in Neuropsychiatric Inventory Associated with Semagacestat Treatment of Alzheimer's Disease.

    Science.gov (United States)

    Rosenberg, Paul B; Lanctôt, Krista L; Herrmann, Nathan; Mintzer, Jacobo E; Porsteinsson, Anton P; Sun, Xiaoying; Raman, Rema

    2016-08-10

    In a recent report, 76 weeks' treatment with a gamma-secretase inhibitor (semagacestat) was associated with poorer cognitive outcomes in Alzheimer's disease (AD). We sought to examine the effect of semagacestat treatment on neuropsychiatric symptoms (NPS). 1,537 participants with mild to moderate AD were randomized to 76 weeks' treatment with placebo versus two doses of semagacestat. NPS were assessed with the Neuropsychiatric Inventory (NPI-Total and subdomains). Cognition was assessed with the Alzheimer's Disease Assessment Scale-Cognitive (first 11 items, ADAS11). Mixed-Model Repeated Measures was used to compare the effects of treatment assignment on change in NPI-total and subdomains over time. Survival analysis was used to assess the treatment effect on time to first worsening of NPS (NPI-Total ≥10 or NPI subdomain ≥4) for subjects with no or minor NPS at baseline. Participants on high dose semagecestat (140 mg) had greater increase in NPI-Total and greater risk of incident first worsening in NPI-Total and in subdomains of aberrant motor behavior, appetite, depression/dysphoria, and sleep. ADAS11 increased more in participants whose NPI-Total increased. In participants with mild to moderate AD, high dose semagacestat treatment was associated with greater severity and faster worsening of NPS in a pattern resembling an agitated depression. Increased NPS was associated with cognitive decline regardless of treatment assignment. These findings suggest that greater NPS may be the result of gamma-secretase treatment and emphasize the importance of monitoring NPS as potential adverse events in trials of novel treatments for AD.

  14. GOClonto: an ontological clustering approach for conceptualizing PubMed abstracts.

    Science.gov (United States)

    Zheng, Hai-Tao; Borchert, Charles; Kim, Hong-Gee

    2010-02-01

    Concurrent with progress in biomedical sciences, an overwhelming of textual knowledge is accumulating in the biomedical literature. PubMed is the most comprehensive database collecting and managing biomedical literature. To help researchers easily understand collections of PubMed abstracts, numerous clustering methods have been proposed to group similar abstracts based on their shared features. However, most of these methods do not explore the semantic relationships among groupings of documents, which could help better illuminate the groupings of PubMed abstracts. To address this issue, we proposed an ontological clustering method called GOClonto for conceptualizing PubMed abstracts. GOClonto uses latent semantic analysis (LSA) and gene ontology (GO) to identify key gene-related concepts and their relationships as well as allocate PubMed abstracts based on these key gene-related concepts. Based on two PubMed abstract collections, the experimental results show that GOClonto is able to identify key gene-related concepts and outperforms the STC (suffix tree clustering) algorithm, the Lingo algorithm, the Fuzzy Ants algorithm, and the clustering based TRS (tolerance rough set) algorithm. Moreover, the two ontologies generated by GOClonto show significant informative conceptual structures.

  15. National trivselsdag med fokus på bevægelse

    DEFF Research Database (Denmark)

    Holt, Anne-Didde

    2016-01-01

    breaks”, skriver tre elever. Trivselsdagen gav ligeledes anledning til at dele de gode erfaringer, der indtil nu er udsprunget af ’Trivsel og Bevægelse i Skolen’ - P1 Morgen, P4 Fyn og TV-avisen bragte historier fra dagen på Glamsbjergskolen i Assens, mens P4 Midt og Vest besøgte Haldgård Skole i...... til at fordybe sig i, videreudvikle og vise omverdenen, hvordan der arbejdes med at fremme trivsel gennem bevægelse. Eleverne arbejdede bl.a. med at udvikle og afprøve brain breaks, som er små pauser med bevægelsesaktiviteter, der lægges ind i løbet af den stillesiddende undervisning. Formålet var...... for dem. ”Vi synes brain breaks er vigtige fordi med brain breaks får vi meget mere energi og fordi at man får et bedre forhold til sine klassekammerater, som man måske ikke snakker med så tit. Man kan holde til mere og det er vigtigt at få en pause til at tænke så derfor vil vi gerne have flere brain...

  16. The MedAustron Project at CERN, Status Report, May 2013

    CERN Document Server

    Benedikt, M; Gutleber, J

    2013-01-01

    MedAustron is a light ion-therapy and research centre based on a synchrotron accelerator complex under construction in Austria. It is the first large-scale accelerator facility in Austria. For the implementation of the required accelerator technologies, the county of Lower Austria and the company EBG MedAustron have set up dedicated agreements with CERN. These cover the assistance of CERN for the design and manufacturing follow-up of accelerator components and training of MedAustron personnel. CERN contributed to the MedAustron construction in particular by providing domain expertise, infrastructure, and manpower in relation with the design, the tendering and procurement processes.\

  17. Orientering og banelægning med Google Earth og Condes

    DEFF Research Database (Denmark)

    Jørgensen, Henrik Taarsted; Piaster, Thomas Gabriel

    2011-01-01

    Et e-læringsmodul på Danmarks undervisningsportal, som handler om hvordan man kan arbejde med banelægning indenfor o-løb. Med udgangspunkt i de to gratisprogrammer Google Earth og Condes lærer man gennem modulet, hvordan man indtegner poster og hvordan eleverne kan gøre det samme.......Et e-læringsmodul på Danmarks undervisningsportal, som handler om hvordan man kan arbejde med banelægning indenfor o-løb. Med udgangspunkt i de to gratisprogrammer Google Earth og Condes lærer man gennem modulet, hvordan man indtegner poster og hvordan eleverne kan gøre det samme....

  18. Poetisk sortsyn med lys for enden

    DEFF Research Database (Denmark)

    Larsen, Peter Stein

    2015-01-01

    Ursula Andkjær Olsens digtsamling " Udgående fartøj" indledes med den følgende prægnante passage, der kan læses i sin helhed som " ugens digt" her på siden: " jeg har brugt tid på at tyde/ sprede dumpe fornemmelser / fra mit fjerne indre (...)......Ursula Andkjær Olsens digtsamling " Udgående fartøj" indledes med den følgende prægnante passage, der kan læses i sin helhed som " ugens digt" her på siden: " jeg har brugt tid på at tyde/ sprede dumpe fornemmelser / fra mit fjerne indre (...)...

  19. At skrive med video

    DEFF Research Database (Denmark)

    Holmboe, Peter

    2018-01-01

    Det kræver særlige kompetencer at skrive en digital tekst, så modtageren kan læse og bruge den. Derfor er det vigtigt at stimulere og udvikle elevernes skrivekompetence med både viden og værktøjer. Digital skrivedidaktik præsenterer teori om skrivekompetence og digital skrivning. Derudover...

  20. Further confirmation of the MED13L haploinsufficiency syndrome

    NARCIS (Netherlands)

    van Haelst, M.M.; Monroe, G.R.; Duran, K.J.; van Binsbergen, E.; Breur, J.M.P.J.; Giltay, J.C.; van Haaften, G.W.

    MED13L haploinsufficiency syndrome has been described in two patients and is characterized by moderate intellectual disability (ID), conotruncal heart defects, facial abnormalities and hypotonia. Missense mutations in MED13L are linked to transposition of the great arteries and non-syndromal

  1. Pediatric Autoimmune Neuropsychiatric Disorder Associated with Streptococcal Infections (PANDAS): Experience at a Tertiary Referral Center

    OpenAIRE

    Singer, Harvey S.

    2015-01-01

    The entity Pediatric Autoimmune Neuropsychiatric Disorders Associated with Streptococcal infections (PANDAS) was initially proposed in 1998 (Swedo, et al. 1998). The formal diagnosis required that the affected individual meet five specific criteria: prepubertal onset, obsessive compulsive disorder (OCD) and/or a tic disorder, the dramatic sudden explosive onset of symptoms, a relapsing and remitting course of symptoms that are temporally associated with Group A beta-hemolytic streptococcal (G...

  2. Death, dying and informatics: misrepresenting religion on MedLine.

    Science.gov (United States)

    Rodríguez Del Pozo, Pablo; Fins, Joseph J

    2005-07-01

    The globalization of medical science carries for doctors worldwide a correlative duty to deepen their understanding of patients' cultural contexts and religious backgrounds, in order to satisfy each as a unique individual. To become better informed, practitioners may turn to MedLine, but it is unclear whether the information found there is an accurate representation of culture and religion. To test MedLine's representation of this field, we chose the topic of death and dying in the three major monotheistic religions. We searched MedLine using PubMed in order to retrieve and thematically analyze full-length scholarly journal papers or case reports dealing with religious traditions and end-of-life care. Our search consisted of a string of words that included the most common denominations of the three religions, the standard heading terms used by the National Reference Center for Bioethics Literature (NRCBL), and the Medical Subject Headings (MeSH) used by the National Library of Medicine. Eligible articles were limited to English-language papers with an abstract. We found that while a bibliographic search in MedLine on this topic produced instant results and some valuable literature, the aggregate reflected a selection bias. American writers were over-represented given the global prevalence of these religious traditions. Denominationally affiliated authors predominated in representing the Christian traditions. The Islamic tradition was under-represented. MedLine's capability to identify the most current, reliable and accurate information about purely scientific topics should not be assumed to be the same case when considering the interface of religion, culture and end-of-life care.

  3. Hvad SKER der med drikkevandet i USA?

    DEFF Research Database (Denmark)

    Ramsay, Loren Mark

    2017-01-01

    Forskellige lande har forskellige traditioner indenfor drikkevandsbehandling. Denne beretning fra ”Water Quality Technology Conference” i USA er set med en særlig vinkel, da forfatteren er amerikansk statsborger, men har arbejdet i den danske vandbranche i mere end 25 år.......Forskellige lande har forskellige traditioner indenfor drikkevandsbehandling. Denne beretning fra ”Water Quality Technology Conference” i USA er set med en særlig vinkel, da forfatteren er amerikansk statsborger, men har arbejdet i den danske vandbranche i mere end 25 år....

  4. Food-Dependent Exercise-Induced Anaphylaxis - Kasuistik med hydrolyseret valleprotein

    DEFF Research Database (Denmark)

    Junker Christensen, Morten

    2013-01-01

    Formål / Introduktion: Patienter med Food-Dependent Exercise-Induced Anaphylaxis (FDEIA) eller løbershock kan udvikle livstruende allergiske reaktioner (anafylaksi), når de kombinere fysisk anstrengelse med samtidig indtagelse af et normalt tolereret fødeemne - oftest hvede. Hydrolysering af prot...

  5. Beskrivelse af næringsstofomsætning med metabolomics

    DEFF Research Database (Denmark)

    Hedemann, Mette Skou

    2010-01-01

    I et forsøg med mink med lav eller høj foderkonvertering er der blevet taget blodprøver på tre tidspunkter. Blodprøverne er blevet taget i en periode, hvor minkene er blevet fodret restriktivt (en prøve) og i en periode med ad libitum fodring (to prøver). Blodprøverne blev analyseret ved hjælp af...... fra restriktivt fodrede mink end i plasma fra ad libitum fodrede mink - betain og carnitin. Derudover er der en lang række andre metabolitter, som også findes i forskellig koncentration som endnu ikke er identificeret....

  6. Retrieval of diagnostic and treatment studies for clinical use through PubMed and PubMed's Clinical Queries filters.

    Science.gov (United States)

    Lokker, Cynthia; Haynes, R Brian; Wilczynski, Nancy L; McKibbon, K Ann; Walter, Stephen D

    2011-01-01

    Clinical Queries filters were developed to improve the retrieval of high-quality studies in searches on clinical matters. The study objective was to determine the yield of relevant citations and physician satisfaction while searching for diagnostic and treatment studies using the Clinical Queries page of PubMed compared with searching PubMed without these filters. Forty practicing physicians, presented with standardized treatment and diagnosis questions and one question of their choosing, entered search terms which were processed in a random, blinded fashion through PubMed alone and PubMed Clinical Queries. Participants rated search retrievals for applicability to the question at hand and satisfaction. For treatment, the primary outcome of retrieval of relevant articles was not significantly different between the groups, but a higher proportion of articles from the Clinical Queries searches met methodologic criteria (p=0.049), and more articles were published in core internal medicine journals (p=0.056). For diagnosis, the filtered results returned more relevant articles (p=0.031) and fewer irrelevant articles (overall retrieval less, p=0.023); participants needed to screen fewer articles before arriving at the first relevant citation (p<0.05). Relevance was also influenced by content terms used by participants in searching. Participants varied greatly in their search performance. Clinical Queries filtered searches returned more high-quality studies, though the retrieval of relevant articles was only statistically different between the groups for diagnosis questions. Retrieving clinically important research studies from Medline is a challenging task for physicians. Methodological search filters can improve search retrieval.

  7. Nye steder med liv og sjæl?

    DEFF Research Database (Denmark)

    Stender, Marie

    planlæggere, der har skabt dem, udforskes stedernes tilblivelsesproces og sociale liv. Det nye sted opfattes af både beboere og professionelle som en bar mark, og mange kræfter sættes ind på at genfortrylle det med et skær af liv, identitet og historie fra start. Hånd i hånd med branding, virtuelle fora...

  8. Spilleregler i musikterapi med voksne

    DEFF Research Database (Denmark)

    Holck, Ulla

    2005-01-01

    Artiklen gennemgår udvalgt faglitteratur, der på et overordnet plan beskriver typer af spilleregler i musikterapi med (fortrinsvis) voksne klientgrupper. Udgangspunktet er Priestleys anvendelse af begrebet, og hendes inddeling af spilleregler i forhold til forskellige teknikker gennemgås, efterfu...

  9. Forskning i musikterapi - børn med en Autisme Spektrum Forstyrrelse

    DEFF Research Database (Denmark)

    Holck, Ulla

    2011-01-01

    Der er forskningsmæssig evidens for, at musikterapi med børn med en autisme spektrum forstyrrelse (ASF) har en signifikant effekt. Cochrane reviews påviser, at musikterapi fremmer verbal og navnlig nonverbal kommunikation hos børn med ASF. En RCT-undersøgelse viser endvidere en signifikant effekt...

  10. Malaria Prevention, Mefloquine Neurotoxicity, Neuropsychiatric Illness, and Risk-Benefit Analysis in the Australian Defence Force

    Directory of Open Access Journals (Sweden)

    Stuart McCarthy

    2015-01-01

    Full Text Available The Australian Defence Force (ADF has used mefloquine for malaria chemoprophylaxis since 1990. Mefloquine has been found to be a plausible cause of a chronic central nervous system toxicity syndrome and a confounding factor in the diagnosis of existing neuropsychiatric illnesses prevalent in the ADF such as posttraumatic stress disorder and traumatic brain injury. Overall health risks appear to have been mitigated by restricting the drug’s use; however serious risks were realised when significant numbers of ADF personnel were subjected to clinical trials involving the drug. The full extent of the exposure, health impacts for affected individuals, and consequences for ADF health management including mental health are not yet known, but mefloquine may have caused or aggravated neuropsychiatric illness in large numbers of patients who were subsequently misdiagnosed and mistreated or otherwise failed to receive proper care. Findings in relation to chronic mefloquine neurotoxicity were foreseeable, but this eventuality appears not to have been considered during risk-benefit analyses. Thorough analysis by the ADF would have identified this long-term risk as well as other qualitative risk factors. Historical exposure of ADF personnel to mefloquine neurotoxicity now also necessitates ongoing risk monitoring and management in the overall context of broader health policies.

  11. [Quality assurance in human genetic testing].

    Science.gov (United States)

    Stuhrmann-Spangenberg, Manfred

    2015-02-01

    Advances in technical developments of genetic diagnostics for more than 50 years, as well as the fact that human genetic testing is usually performed only once in a lifetime, with additional impact for blood relatives, are determining the extraordinary importance of quality assurance in human genetic testing. Abidance of laws, directives, and guidelines plays a major role. This article aims to present the major laws, directives, and guidelines with respect to quality assurance of human genetic testing, paying careful attention to internal and external quality assurance. The information on quality assurance of human genetic testing was obtained through a web-based search of the web pages that are referred to in this article. Further information was retrieved from publications in the German Society of Human Genetics and through a PubMed-search using term quality + assurance + genetic + diagnostics. The most important laws, directives, and guidelines for quality assurance of human genetic testing are the gene diagnostics law (GenDG), the directive of the Federal Medical Council for quality control of clinical laboratory analysis (RiliBÄK), and the S2K guideline for human genetic diagnostics and counselling. In addition, voluntary accreditation under DIN EN ISO 15189:2013 offers a most recommended contribution towards quality assurance of human genetic testing. Legal restraints on quality assurance of human genetic testing as mentioned in § 5 GenDG are fulfilled once RiliBÄK requirements are followed.

  12. Death, dying and informatics: misrepresenting religion on MedLine

    Directory of Open Access Journals (Sweden)

    Fins Joseph J

    2005-07-01

    Full Text Available Abstract Background The globalization of medical science carries for doctors worldwide a correlative duty to deepen their understanding of patients' cultural contexts and religious backgrounds, in order to satisfy each as a unique individual. To become better informed, practitioners may turn to MedLine, but it is unclear whether the information found there is an accurate representation of culture and religion. To test MedLine's representation of this field, we chose the topic of death and dying in the three major monotheistic religions. Methods We searched MedLine using PubMed in order to retrieve and thematically analyze full-length scholarly journal papers or case reports dealing with religious traditions and end-of-life care. Our search consisted of a string of words that included the most common denominations of the three religions, the standard heading terms used by the National Reference Center for Bioethics Literature (NRCBL, and the Medical Subject Headings (MeSH used by the National Library of Medicine. Eligible articles were limited to English-language papers with an abstract. Results We found that while a bibliographic search in MedLine on this topic produced instant results and some valuable literature, the aggregate reflected a selection bias. American writers were over-represented given the global prevalence of these religious traditions. Denominationally affiliated authors predominated in representing the Christian traditions. The Islamic tradition was under-represented. Conclusion MedLine's capability to identify the most current, reliable and accurate information about purely scientific topics should not be assumed to be the same case when considering the interface of religion, culture and end-of-life care.

  13. Genome-wide analysis identifies 12 loci influencing human reproductive behavior

    DEFF Research Database (Denmark)

    Barban, Nicola; Jansen, Rick; de Vlaming, Ronald

    2016-01-01

    The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified, and the under......The genetic architecture of human reproductive behavior-age at first birth (AFB) and number of children ever born (NEB)-has a strong relationship with fitness, human development, infertility and risk of neuropsychiatric disorders. However, very few genetic loci have been identified...

  14. Utility of the Community Integration Questionnaire in a sample of adults with neurological and neuropsychiatric disorders receiving prevocational training.

    Science.gov (United States)

    Tomaszewski, Robert; Mitrushina, Maura

    2015-08-03

    To investigate utility of the Community Integration Questionnaire (CIQ) in a mixed sample of adults with neurological and neuropsychiatric disorders. Cross-sectional, interview-based study. Participants were community-dwelling adults with disabilities resulting from neurological and neuropsychiatric disorders (N = 54), who participated in a pre-vocational readiness and social skills training program. Psychometric properties of the Community Integration Questionnaire (CIQ) were assessed and validated against Mayo-Portland Adaptability Inventory (MPAI) and The Problem Checklist from the New York University Head Injury Family Interview (PCL). Based on the revised scoring procedures, psychometric properties of the CIQ Home Competency scale were excellent, followed by the Total score and Social Integration scale. Productive Activity scale had low content validity and a weak association with the total score. Convergent and discriminant validity of the CIQ were demonstrated by correlation patterns with MPAI scales in the expected direction. Significant relationship was found with PCL Physical/Dependency scale. Significant associations were found with sex, living status, and record of subsequent employment. The results provide support for the use of the CIQ as a measure of participation in individuals with neurological and neuropsychiatric diagnoses and resulting disabilities. Implications for Rehabilitation An important goal of rehabilitation and training programs for individuals with dysfunction of the central nervous system is to promote their participation in social, vocational, and domestic activities. The Community Integration Questionnaire (CIQ) is a brief and efficient instrument for measuring these participation domains. This study demonstrated good psychometric properties and high utility of the CIQ in a sample of 54 individuals participating in a prevocational training program.

  15. Farlig sex med engle

    DEFF Research Database (Denmark)

    Mejrup, Kristian

    2013-01-01

    De fleste af os tænker ikke på engle som kønnede væsner med en seksualitet, og selv om vi er i stand til at acceptere engle i alle mulige afskygninger, fra juletræets tyksakker i glitrende guld til frygtindgydende skikkelser i de bibelske skrifter, så er vi tilbøjelig til at ignorere spørgsmålet ...

  16. Utility of the Neuropsychiatric Inventory Questionnaire (NPI-Q in the assessment of a sample of patients with Alzheimer's disease in Chile

    Directory of Open Access Journals (Sweden)

    Gada Musa

    Full Text Available ABSTRACT The Neuropsychiatric Inventory Questionnaire (NPI-Q is an informant-based instrument that measures the presence and severity of 12 Neuropsychiatric Symptoms (NPS in patients with dementia, as well as informant distress. Objective: To measure the psychometric properties of the NPI-Q and the prevalence of NPS in patients with Alzheimer's disease (AD in Chile. Methods: 53 patients with AD were assessed. Subjects were divided into two different groups: mild AD (n=26 and moderate AD (n=27. Convergent validity was estimated by correlating the outcomes of the NPI-Q with Neuropsychiatric Inventory (NPI scores and with a global cognitive efficiency test (Addenbrooke's Cognitive Examination - Revised - ACE-R. Reliability of the NPI-Q was analysed by calculating its internal consistency. Prevalence of NPS was estimated with both the NPI and NPI-Q. Results: Positive and significant correlations were observed between the NPI-Q, the NPI, and the ACE-R (r=0.730; p<0.01 and 0.315; p<0.05 respectively. The instrument displayed an adequate level of reliability (Cronbach's alpha=0.783. The most prevalent NPS were apathy/indifference (62.3% and dysphoria/depression (58.5%. Conclusion: The NPI-Q exhibited acceptable validity and reliability indicators for patients with AD in Chile, indicating that it is a suitable instrument for the routine assessment of NPS in clinical practice.

  17. An Investigation of the Neurological and Neuropsychiatric Disturbances in Adults with Undiagnosed and/or Untreated Phenylketonuria in Poland

    Science.gov (United States)

    Mazur, Artur; Jarochowicz, Sabina; Oltarzewski, Mariusz; Sykut-Cegielska, Jolanta; Gradowska, Wanda; Januszek-Trzciakowska, Aleksandra; O'Malley, Grace; Kwolek, Andrzej

    2011-01-01

    Background: The aim of the study was to determine neurological and neuropsychiatric manifestations in a group of patients with previously undiagnosed or untreated phenylketonuria (PKU) in the south-eastern part of Poland. Methods: The study was conducted among 400 adults with severe intellectual disability who were born prior to neonatal screening…

  18. Neuropsychiatric Manifestations in a Patient with Panhypopituitarism

    Directory of Open Access Journals (Sweden)

    Oluwole Jegede

    2017-01-01

    Full Text Available We present a case of an incidental diagnosis of panhypopituitarism in a 68-year-old African American man admitted to our psychiatric inpatient unit with symptoms suggestive of schizophrenia. The case was unusual as a first-episode psychosis given the patient’s age. In the course of his admission, the patient’s clinical condition deteriorated culminating in a sudden altered mental status which prompted a transfer to the medical floors and further investigations. A head CT scan and a pituitary MRI revealed a near total resection of the pituitary while laboratory investigations revealed hyponatremia and a grossly low hormone profile. The progression of these events casts doubts on our admitting diagnosis as the primary cause of the patient’s symptoms. The patient’s clinical condition improved only when his endocrinopathy was treated with hormone replacement, fluids, and electrolyte correction in addition to antipsychotics. An inability to verify the patient’s psychiatric history and a remote history of pituitary resection several decades earlier, unknown to the treating team, added to the diagnostic conundrum. We revised the diagnosis to neuropsychiatric manifestations secondary to an organic brain syndrome due to a partial pituitary resection. The patient was discharged with no symptoms of psychosis, good insight, judgment, and good reality testing.

  19. Neuropsychiatric Manifestations in a Patient with Panhypopituitarism.

    Science.gov (United States)

    Jegede, Oluwole; Jeyakumar, Ajouka; Balakumar, Thyarapan; Raghu, Alyssa; Chang, Katherine I; Soewono, Katarina; Gustave, Mario; Jolayemi, Ayodeji

    2017-01-01

    We present a case of an incidental diagnosis of panhypopituitarism in a 68-year-old African American man admitted to our psychiatric inpatient unit with symptoms suggestive of schizophrenia. The case was unusual as a first-episode psychosis given the patient's age. In the course of his admission, the patient's clinical condition deteriorated culminating in a sudden altered mental status which prompted a transfer to the medical floors and further investigations. A head CT scan and a pituitary MRI revealed a near total resection of the pituitary while laboratory investigations revealed hyponatremia and a grossly low hormone profile. The progression of these events casts doubts on our admitting diagnosis as the primary cause of the patient's symptoms. The patient's clinical condition improved only when his endocrinopathy was treated with hormone replacement, fluids, and electrolyte correction in addition to antipsychotics. An inability to verify the patient's psychiatric history and a remote history of pituitary resection several decades earlier, unknown to the treating team, added to the diagnostic conundrum. We revised the diagnosis to neuropsychiatric manifestations secondary to an organic brain syndrome due to a partial pituitary resection. The patient was discharged with no symptoms of psychosis, good insight, judgment, and good reality testing.

  20. Hvad skal vi med Trump-satire?

    DEFF Research Database (Denmark)

    Møller, Mette

    2017-01-01

    Trump-satire er et stort hit, og særligt en lang række satiriske videohilsner til Trump fra lande verden over får folk til at trække på smilebåndet. Men hvorfor er det så sjovt at gøre grin med Trump, og hvad kan vi bruge den politiske humor til?......Trump-satire er et stort hit, og særligt en lang række satiriske videohilsner til Trump fra lande verden over får folk til at trække på smilebåndet. Men hvorfor er det så sjovt at gøre grin med Trump, og hvad kan vi bruge den politiske humor til?...

  1. Ion Sources for MedAustron

    CERN Document Server

    Lettry, J; Wallner, J; Sargsyan, E; CERN. Geneva. BE Department

    2010-01-01

    The MedAustron Ion therapy center will be constructed in Wiener Neustadt (Austria) in the vicinity of Vienna. Its accelerator complex consists of four ion sources, a linear accelerator, a synchrotron and a beam delivery system to the three medical treatment rooms and to the research irradiation room. The ion sources shall deliver beams of H31+, C4+ and light ions with utmost reliability and stability. This paper describes the features of the ion sources presently planned for the MedAustron facility; such as ion source main parameters, gas injection, temperature control and cooling systems. A dedicated beam diagnostics technique is proposed in order to characterize ECR ions beams; in the first drift region after the ion source, a fraction of the mixed beam is selected via moveable aperture. With standard beam diagnostics, we then aim to produce position-dependant observables such as ion-current density, beam energy distribution and emittance for each charge states to be compared to simulations of ECR e-heating...

  2. Positron computed tomography studies: potential use in neuro-psychiatric disorders

    International Nuclear Information System (INIS)

    Yamasaki, T.; Tateno, Y.; Shishido, F.

    1982-01-01

    Since November 1979 positron computed tomography (PCT) have been performed to study subjects in a variety of states and varied disorders, using 13 NH 3 , 11 CO and 18 F-2-fluorodeoxyglucose ( 18 FDG) at the National Institute of Radiological Sciences, Japan. In neuro-psychiatric studies, normal volunteers and patients including schizophrenia, affective disorders, Alzheimer's disease, Huntigton's chorea were studied. Tomographic images were analyzed by visual observation and activity counting in regions selected. In degenerative disorder group, 18 FDG revealed decreased accumulation in target areas, whereas in functional psychosis group both in medicating patients and in non-medicated patients, positron images were basically similar to normal controls. Especially in a patient with Huntington's chorea, 18 FDG accumulation in striatal region was markedly decreased without significant change in the same region on X-ray CT and 13 NH 3 PCT

  3. Human genetic factors in tuberculosis: an update.

    Science.gov (United States)

    van Tong, Hoang; Velavan, Thirumalaisamy P; Thye, Thorsten; Meyer, Christian G

    2017-09-01

    Tuberculosis (TB) is a major threat to human health, especially in many developing countries. Human genetic variability has been recognised to be of great relevance in host responses to Mycobacterium tuberculosis infection and in regulating both the establishment and the progression of the disease. An increasing number of candidate gene and genome-wide association studies (GWAS) have focused on human genetic factors contributing to susceptibility or resistance to TB. To update previous reviews on human genetic factors in TB we searched the MEDLINE database and PubMed for articles from 1 January 2014 through 31 March 2017 and reviewed the role of human genetic variability in TB. Search terms applied in various combinations were 'tuberculosis', 'human genetics', 'candidate gene studies', 'genome-wide association studies' and 'Mycobacterium tuberculosis'. Articles in English retrieved and relevant references cited in these articles were reviewed. Abstracts and reports from meetings were also included. This review provides a recent summary of associations of polymorphisms of human genes with susceptibility/resistance to TB. © 2017 John Wiley & Sons Ltd.

  4. Cognitive Deficits in Schizophrenia and Other Neuropsychiatric Disorders: Convergence of Preclinical and Clinical Evidence

    Czech Academy of Sciences Publication Activity Database

    Stuchlík, Aleš; Sumiyoshi, T.

    2014-01-01

    Roč. 8, - (2014), s. 444 ISSN 1662-5153 R&D Projects: GA ČR(CZ) GA14-03627S; GA ČR(CZ) GBP304/12/G069; GA MZd(CZ) NT13386; GA MŠk(CZ) LH14053 Grant - others:Rada Programu interní podpory projektů mezinárodní spolupráce AV ČR(CZ) M200111204 Institutional support: RVO:67985823 Keywords : cognition * neuropsychiatric disorders * animal models * clinical studies * preclinical studies Subject RIV: FH - Neurology Impact factor: 3.270, year: 2014

  5. Epidemiology and genetics of ventricular fibrillation during acute myocardial infarction

    DEFF Research Database (Denmark)

    Glinge, Charlotte; Sattler, Stefan; Jabbari, Reza

    2016-01-01

    of a family member is a risk factor for SCD and VF during acute myocardial infarction (MI), independent of traditional risk factors including family history of MI, suggesting a genetic component in the susceptibility to VF. To prevent SCD and VF due to MI, we need a better understanding of the genetic...... and molecular mechanisms causing VF in this apparently healthy population. Even though new insights and technologies have become available, the genetic predisposition to VF during MI remains poorly understood. Findings from a variety of different genetic studies have failed to reach reproducibility, although...... several genetic variants, both common and rare variants, have been associated to either VF or SCD. For this review, we searched PubMed for potentially relevant articles, using the following MeSH-terms: "sudden cardiac death", "ventricular fibrillation", "out-of-hospital cardiac arrest", "myocardial...

  6. Atividade física e sintomas neuropsiquiátricos em pacientes com demência de Alzheimer Physical activity and neuropsychiatric symptoms in elderly with Alzheimer's dementia

    Directory of Open Access Journals (Sweden)

    Salma Stéphany Soleman Hernandez

    2011-09-01

    Full Text Available Na demência de Alzheimer (DA é comum a presença de sintomas neuropsiquiátricos resultantes de mudanças anatômicas e bioquímicas no cérebro. O objetivo deste estudo foi realizar uma revisão sistemática dos estudos que investigaram a relação entre atividade física e sintomas neuropsiquiátricos na DA. Efetuou-se uma pesquisa nas bases de dados: Academic Search Premier, Biological Abstracts, Medline, PsycINFO, Pubmed, Scielo, Science Direct, Sport Discus e Web of Science, utilizando-se as seguintes palavras - chave e operadores boleanos: (Neuropsychiatric disturbances OR Neuropsychiatric symptoms OR Neuropsychological disturbances OR Aberrant behavior OR Aberrant behaviour OR Behavior disturbances OR Behaviour disturbances OR Behavior management OR Behaviour management OR Disruptive behavior OR Disruptive behaviour AND (Alzheimer AND (Exercise OR Motor intervention OR training OR Physical activity OR fitness, além de referências cruzadas dos artigos selecionados. Foram encontrados oito estudos que preencheram os critérios de inclusão. Concluiu-se que bons resultados têm sido evidenciados para os distúrbios de agitação e sono de pacientes com DA. Entretanto então há um consenso de qual o melhor tipo de atividade para estes pacientes.Is common the presence of neuropsychiatric symptoms in Alzheimer's disease (AD, this is resulted of anatomical and biochemical changes in the brain. The objective of present study was to look for papers relating physical activity and neuropsychiatric symptoms through a systematic review. The following data bases was accessed: Academic Search Premier, Biological Abstracts, Medline, PsycINFO, Pubmed, Scielo, Science direct on line, Sport Discus and Web of Science, using the following key-words: (Neuropsychiatric disturbances OR Neuropsychiatric symptoms OR Neuropsychological disturbances OR Aberrant behavior OR Aberrant behaviour OR Behavior disturbances OR Behaviour disturbances OR Behavior

  7. Hovedpointer fra telefon survey med D&I kandidater og aftagere

    DEFF Research Database (Denmark)

    Brodersen, Søsser; Lindegaard, Hanne

    2010-01-01

    Som en anden fase i D&I evalueringen gennemførtes en telefon survey med alle færdige D&I kandidater (i perioden september til november 2009). Formålet med denne telefon survey var at kortlægge kandidaternes karriereforløb: mønstrer, entre på arbejdsmarkedet og hvor søger de job, beskæftigelsesmøn......Som en anden fase i D&I evalueringen gennemførtes en telefon survey med alle færdige D&I kandidater (i perioden september til november 2009). Formålet med denne telefon survey var at kortlægge kandidaternes karriereforløb: mønstrer, entre på arbejdsmarkedet og hvor søger de job......, beskæftigelsesmønstrer samt hvilke kompetencer de mener at have anvendt og ikke anvendt fra studiet i deres job. Telefon survey formen blev valgt for dermed at få muligheden for at få nogle kvantitative informationer frem. I alt blev 72 D&I kandidater interviewet ud af 78 mulige, dvs. vi opnåede en svarprocent på 92......,3 % . Spørgsmålene var forberedt på forhånd således at kandidaterne blev stillet de samme spørgsmål. Derudover gennemførtes en telefon survey med 14 aftagere af D&I kandidater (identificeret gennem telefon surveyen med kandidaterne, således at de repræsenterede store virksomheder, mindre virksomheder...

  8. Software-Enabled Distributed Network Governance: The PopMedNet Experience.

    Science.gov (United States)

    Davies, Melanie; Erickson, Kyle; Wyner, Zachary; Malenfant, Jessica; Rosen, Rob; Brown, Jeffrey

    2016-01-01

    The expanded availability of electronic health information has led to increased interest in distributed health data research networks. The distributed research network model leaves data with and under the control of the data holder. Data holders, network coordinating centers, and researchers have distinct needs and challenges within this model. The concerns of network stakeholders are addressed in the design and governance models of the PopMedNet software platform. PopMedNet features include distributed querying, customizable workflows, and auditing and search capabilities. Its flexible role-based access control system enables the enforcement of varying governance policies. Four case studies describe how PopMedNet is used to enforce network governance models. Trust is an essential component of a distributed research network and must be built before data partners may be willing to participate further. The complexity of the PopMedNet system must be managed as networks grow and new data, analytic methods, and querying approaches are developed. The PopMedNet software platform supports a variety of network structures, governance models, and research activities through customizable features designed to meet the needs of network stakeholders.

  9. Genetic factors affecting dental caries risk.

    Science.gov (United States)

    Opal, S; Garg, S; Jain, J; Walia, I

    2015-03-01

    This article reviews the literature on genetic aspects of dental caries and provides a framework for the rapidly changing disease model of caries. The scope is genetic aspects of various dental factors affecting dental caries. The PubMed database was searched for articles with keywords 'caries', 'genetics', 'taste', 'diet' and 'twins'. This was followed by extensive handsearching using reference lists from relevant articles. The post-genomic era will present many opportunities for improvement in oral health care but will also present a multitude of challenges. We can conclude from the literature that genes have a role to play in dental caries; however, both environmental and genetic factors have been implicated in the aetiology of caries. Additional studies will have to be conducted to replicate the findings in a different population. Identification of genetic risk factors will help screen and identify susceptible patients to better understand the contribution of genes in caries aetiopathogenesis. Information derived from these diverse studies will provide new tools to target individuals and/or populations for a more efficient and effective implementation of newer preventive measures and diagnostic and novel therapeutic approaches in the management of this disease. © 2015 Australian Dental Association.

  10. Incidence of neuropsychiatric side effects of efavirenz in HIV-positive treatment-naïve patients in public-sector clinics in the Eastern Cape

    Directory of Open Access Journals (Sweden)

    Razia Gaida

    2016-06-01

    Full Text Available Background: It is acknowledged that almost half of patients initiated on efavirenz will experience at least one neuropsychiatric side effect. Objectives: The aim was to determine the incidence and severity of neuropsychiatric side effects associated with efavirenz use in five public-sector primary healthcare clinics in the Eastern Cape. Method: The study was a prospective drug utilisation study. A total of 126 medical records were reviewed to obtain the required information. After baseline assessment, follow-up reviews were conducted at 4 weeks, 12 weeks and 24 weeks from 2014 to 2015. Results: The participant group was 74.60% female (n = 94, and the average age was 37.57±10.60 years. There were no neuropsychiatric side effects recorded for any patient. After the full follow-up period, there were a total of 49 non-adherent patients and one patient had demised. A non-adherent patient was defined as a patient who did not return to the clinic for follow-up assessment and medication refills 30 days or more after the appointed date. Some patients (n = 11 had sent a third party to the clinic to collect their antiretroviral therapy (ART. The clinic pharmacy would at times dispense a two-month supply of medication resulting in the patient presenting only every two months. Conclusion: Further pharmacovigilance studies need to be conducted to determine the true incidence of these side effects. Healthcare staff must be encouraged to keep complete records to ensure meaningful patient assessments. Patients being initiated on ART need to personally attend the clinic monthly for at least the first 6 months of treatment. Clinic staff should receive regular training concerning ART, including changes made to guidelines as well as reminders of side effects experienced. Keywords: neuropsychiatric; side effects; efavirenz; HIV-positive patients

  11. Å forske med kunsten kollaborativt i en fortellerforestillingsproduksjon

    Directory of Open Access Journals (Sweden)

    Mette Bøe Lyngstad

    2018-03-01

    Full Text Available I denne artikkelen viser forskerne, som også er fortellere, hvordan de i utviklingen av sin egen fortellerforestilling forsket med kunsten. Artikkelforfatterne forsøker å vise en selvrefleksivitet og metodologisk bevissthet gjennom hele kunstproduksjonen. De undersøker hvordan en gjennom å forske med kunsten kollaborativt kan koble historiske fakta, fiksjonsfortelling og livsfortelling i en kunstproduksjon. Forskningsartikkelen tar for seg kunstproduksjonens ulike faser som brainstormfase, innsamlingsfase, fortellertekniske fase og utforskingsfase i scenerommet.

  12. Mediator Subunit Med28 Is Essential for Mouse Peri-Implantation Development and Pluripotency.

    Directory of Open Access Journals (Sweden)

    Lin Li

    Full Text Available The multi-subunit mammalian Mediator complex acts as an integrator of transcriptional regulation by RNA Polymerase II, and has emerged as a master coordinator of development and cell fate determination. We previously identified the Mediator subunit, MED28, as a cytosolic binding partner of merlin, the Neurofibromatosis 2 (NF2 tumor suppressor, and thus MED28 is distinct in having a cytosolic role as an NF2 interacting protein as well as a nuclear role as a Mediator complex subunit. Although limited in vitro studies have been performed on MED28, its in vivo function remains unknown. Employing a knockout mouse model, we describe for the first time the requirement for Med28 in the developing mouse embryo. Med28-deficiency causes peri-implantation lethality resulting from the loss of pluripotency of the inner cell mass accompanied by reduced expression of key pluripotency transcription factors Oct4 and Nanog. Further, overexpression of Med28 in mouse embryonic fibroblasts enhances the efficiency of their reprogramming to pluripotency. Cre-mediated inactivation of Med28 in induced pluripotent stem cells shows that Med28 is required for their survival. Intriguingly, heterozygous loss of Med28 results in differentiation of induced pluripotent stem cells into extraembryonic trophectoderm and primitive endoderm lineages. Our findings document the essential role of Med28 in the developing embryo as well as in acquisition and maintenance of pluripotency during reprogramming.

  13. Chronic Manganese Toxicity Associated with Voltage-Gated Potassium Channel Complex Antibodies in a Relapsing Neuropsychiatric Disorder

    OpenAIRE

    Cyrus S.H. Ho; Roger C.M. Ho; Amy M.L. Quek

    2018-01-01

    Heavy metal poisoning is a rare but important cause of encephalopathy. Manganese (Mn) toxicity is especially rare in the modern world, and clinicians’ lack of recognition of its neuropsychiatric manifestations can lead to misdiagnosis and mismanagement. We describe the case of a man who presented with recurrent episodes of confusion, psychosis, dystonic limb movement and cognitive impairment and was initially diagnosed with anti-voltage-gated potassium channel (VGKC) complex limbic ence...

  14. Graduating med-peds residents' interest in part-time employment.

    Science.gov (United States)

    Fix, Amy L; Kaelber, David C; Melgar, Thomas A; Chamberlain, John; Cull, William; Robbins, Brett W

    2011-01-01

    As part-time work is becoming more popular among the primary care specialties, we examined the demographic descriptors of med-peds residents seeking and finding part-time employment upon completion of residency training. As part of the 2006 annual American Academy of Pediatrics (AAP) Graduating Med-Peds Residents Survey, we surveyed the graduating residents of all med-peds programs about their interest in and plans for part-time employment. A total of 199 (60%) of the residents responded. Of the resident respondents applying for nonfellowship jobs, 19% sought part-time positions and 10% actually accepted a part-time position. Female residents were significantly more likely than male residents to apply for part-time jobs (26% vs. 7%, P = .034). Sixty percent of female residents immediately seeking work and 58% of those going on to fellowship reported an interest in arranging a part-time or reduced-hours position at some point in the next 5 years. Part-time employment among med-peds residents applying for nonfellowship positions after graduation is similar to the current incidence of part-time employment in other fields of primary care. A much higher percentage of med-peds residents are interested in arranging part-time work within 5 years after graduation. This strong interest in part-time work has many implications for the primary care workforce. Copyright © 2011 Academic Pediatric Association. Published by Elsevier Inc. All rights reserved.

  15. Time-dependent migration of citations through PubMed and OvidSP subsets: a study on a series of simultaneous PubMed and OvidSP searches.

    Science.gov (United States)

    Boeker, Martin; Vach, Werner; Motschall, Edith

    2013-01-01

    To quantitatively describe (1) differences between search results derived at consecutive time points with the PubMed and OvidSP literature search interfaces over a five day interval, and (2) the migration of citations through different subsets to estimate the timeliness of OvidSP. PubMed-Identifiers (PMIDs) of the following subsets were retrieved from PubMed and OvidSP simultaneously (within 8 h) at 11 days in March and April 2010 including 5 consecutive days: as supplied by publisher, in process, PubMed not MEDLINE, and OLDMEDLINE. Search results were compared for difference and intersection sets. The migration of citations on individual level was determined by comparison of corresponding sets over several days. The "in process" set was stable with about 446,000 - 452,000 citations; a small fraction of up to 3 % of the total subsets were in PubMed only and OvidSP only subsets. About 96 % of the ca. 10,500 citations in the OvidSP only subset migrated within 2 days out of the "in process" subset. The database of OvidSP is updated within a period of two days.

  16. Serum neuron specific enolase - a novel indicator for neuropsychiatric systemic lupus erythematosus?

    Science.gov (United States)

    Hawro, T; Bogucki, A; Krupińska-Kun, M; Maurer, M; Woźniacka, A

    2015-12-01

    Neuropsychiatric (NP) lupus, a common manifestation of systemic lupus erythematosus (SLE), is still insufficiently understood, in part, because of the lack of specific biomarkers. Neuron specific enolase (NSE), an important neuronal glycolytic enzyme, shows increased serum levels following acute brain injury, and decreased serum levels in several chronic disorders of the nervous system, including multi infarct dementia, multiple sclerosis and depression. The aim of the study was to evaluate serum NSE levels in SLE patients with and without nervous system involvement, and in healthy controls, and to assess the correlation of NSE serum levels of patients with neuropsychiatric systemic lupus erythematosus (NPSLE) with clinical parameters. The study comprised 47 SLE patients and 28 controls. SLE activity was assessed using the Systemic Lupus Activity Measure (SLAM). A neurologist and a psychiatrist examined all patients. NP involvement was diagnosed according to strict NPSLE criteria proposed by Ainiala and coworkers, as modification to American College of Rheumatology (ACR) nomenclature and case definitions. NSE serum levels were determined by use of an immunoassay. Mean NSE serum concentrations in patients with NPSLE were significantly lower than in non-NPSLE patients (6.3 ± 2.6 µg/L vs. 9.7 ± 3.3 µg/L, p < 0.01) and in controls (8.8 ± 3.3 µg/L, p < 0.05). There were significant negative correlations between NSE serum levels and SLE activity (r = -0.42, p < 0.05) and the number of NPSLE manifestations diagnosed (-0.37; p = 0.001). Decreased serum concentrations of NSE may reflect chronic neuronal damage with declined metabolism of the nervous tissue in patients with NPSLE. © The Author(s) 2015.

  17. Jokar et al., Afr J Tradit Complement Altern Med. (2016) 13(1):40-44 ...

    African Journals Online (AJOL)

    PROF ADEWUNMI

    Jokar et al., Afr J Tradit Complement Altern Med. ... Shiraz- Iran.3Department of Obstetrics and Gynecology, School of Medicine and maternal- fetal ..... Ann Intern Med 2001; 135(5):344–51. 7. ... Clin Geriatr Med.2008; ... Indian J. Med Res.

  18. Susceptibility of MED-Q1 and MED-Q3 Biotypes of Bemisia tabaci (Hemiptera: Aleyrodidae) Populations to Essential and Seed Oils.

    Science.gov (United States)

    Samuel Fogné, Drabo; Olivier, Gnankine; Bassolé, Imael H N; Nébié, Roger Charles; Laurence, Mouton

    2017-06-01

    Bemisia tabaci (Gennadius) (Hemiptera: Aleyrodidae) is a major pest of many agricultural and ornamental crops in tropical and subtropical regions causing damages that result in important economic losses. Insecticides are commonly used in greenhouses or fields to control B. tabaci populations leading to rapid evolution of resistance that render treatments inefficient. Therefore, and for environmental and human health concerns, other approaches must be developed for this pest management. In the present study, we compare, using the leaf dip method, the toxicity of three essential oils (Cymbopogon citratus, Ocimum americanum, and Hyptis spicigera) and three seed oils (Lannea microcarpa, Lannea acida, and Carapa procera) with three chemical insecticides (acetamiprid, deltamethrin, and chlorpyrifos-ethyl) on adults. Two B. tabaci biotypes (MED-Q1 and MED-Q3) belonging to the Mediterranean species and collected in Burkina Faso were used. Essential oils were analyzed by gas chromatography-mass spectrometry and gas chromatography-flame ionization detector. We showed that these two biotypes have different levels of resistance to the three insecticides, MED-Q3 being more sensitive than MED-Q1. Moreover, they differ in the frequency of resistance alleles to insecticides, especially for organophosphates, as these alleles are almost fixed in MED-Q1. On the other hand, the two biotypes prove to be more susceptible to the plant extracts than to insecticides except for chlorpyrifos-ethyl, with essential oils that showed the highest insecticidal activities. Monoterpenes content were the most abundant and showed the highest insecticidal activities. Our results indicated that essential oils, but also seed oils, have the potential to constitute an alternative strategy of pest management. © The Authors 2017. Published by Oxford University Press on behalf of Entomological Society of America. All rights reserved. For Permissions, please email: journals.permissions@oup.com.

  19. Afkølingstid - breddeopgaver 45-46 med didaktisk kommentar

    DEFF Research Database (Denmark)

    Jensen, Jens Højgaard

    2011-01-01

    Mit formål med artikelserien om breddeopgaver er – udover at gøre opmærksom på RUCs fysikuddannelse – dobbelt: Dels udvælger jeg opgaverne, så de kan have interesse som fysikproblemer i egen ret. Dels udvælger jeg dem med henblik på at kunne knytte didaktiske overvejelser til dem af interesse...

  20. Changes in neural network homeostasis trigger neuropsychiatric symptoms.

    Science.gov (United States)

    Winkelmann, Aline; Maggio, Nicola; Eller, Joanna; Caliskan, Gürsel; Semtner, Marcus; Häussler, Ute; Jüttner, René; Dugladze, Tamar; Smolinsky, Birthe; Kowalczyk, Sarah; Chronowska, Ewa; Schwarz, Günter; Rathjen, Fritz G; Rechavi, Gideon; Haas, Carola A; Kulik, Akos; Gloveli, Tengis; Heinemann, Uwe; Meier, Jochen C

    2014-02-01

    The mechanisms that regulate the strength of synaptic transmission and intrinsic neuronal excitability are well characterized; however, the mechanisms that promote disease-causing neural network dysfunction are poorly defined. We generated mice with targeted neuron type-specific expression of a gain-of-function variant of the neurotransmitter receptor for glycine (GlyR) that is found in hippocampectomies from patients with temporal lobe epilepsy. In this mouse model, targeted expression of gain-of-function GlyR in terminals of glutamatergic cells or in parvalbumin-positive interneurons persistently altered neural network excitability. The increased network excitability associated with gain-of-function GlyR expression in glutamatergic neurons resulted in recurrent epileptiform discharge, which provoked cognitive dysfunction and memory deficits without affecting bidirectional synaptic plasticity. In contrast, decreased network excitability due to gain-of-function GlyR expression in parvalbumin-positive interneurons resulted in an anxiety phenotype, but did not affect cognitive performance or discriminative associative memory. Our animal model unveils neuron type-specific effects on cognition, formation of discriminative associative memory, and emotional behavior in vivo. Furthermore, our data identify a presynaptic disease-causing molecular mechanism that impairs homeostatic regulation of neural network excitability and triggers neuropsychiatric symptoms.

  1. Role of genetics in the etiopathogenesis of genetic generalized epilepsy: A review of current literature

    Directory of Open Access Journals (Sweden)

    S A Balarabe

    2016-01-01

    Full Text Available Until recently, genetic generalized epilepsy (GGE was believed to be of presumed genetic etiology with no identifiable genetic mutation or demonstrable epigenetic abnormality. A wide range of epileptic disorders has clue for an inherited susceptibility. Monogenic disorders associated with epilepsy mental retardation and structural brain lesion typified by heterotopias, tuberous sclerosis, and progressive myoclonus epilepsies account for about 1% of epilepsies. This review focuses on the role of genetic mutations and epigenetic rearrangements in the pathophysiologic mechanism of GGE. To achieve this; PubMed, EMBASE, and Google Scholar were systematically and comprehensively searched using keywords (“epilepsy” “juvenile myoclonic epilepsy (JME,” “typical absences,” “idiopathic generalized epilepsy,” “JME,” “juvenile absence epilepsy,” “childhood absence epilepsy” “generalized tonic-clonic seizure” “GTCS”. Most GGE has evidence of underlying genetic inheritance. Recent animal studies have shown that early detection and treatment of genetic generalized epilepsies can alter the phenotypic presentation in rodents. These findings suggest a critical period in epileptogenesis, during which spike-and-wave seizures can be suppressed, leading to chronic changes in the brain (epileptogenesis and the preceding dysfunctions may, therefore, be targeted using therapeutic approaches that may either delay or inhibit the transition to active epileptic attack. The interplay between genetic mutations and epigenetic rearrangements play important roles in the development of GCE and that this process, especially at crucial developmental periods, is very susceptible to environmental modulations.

  2. Childhood onset neuropsychiatric disorders in adult eating disorder patients. A pilot study.

    Science.gov (United States)

    Wentz, Elisabet; Lacey, J Hubert; Waller, Glenn; Råstam, Maria; Turk, Jeremy; Gillberg, Christopher

    2005-12-01

    Autism spectrum disorders (ASD) have been suggested to be overrepresented in anorexia nervosa. This study aimed to explore the comorbidity of ASD and other childhood onset neuropsychiatric disorders (COND) [attention-deficit/hyperactivity disorder (AD/HD) and tic disorders] in a group of severe eating disorder (ED) patients. Thirty female ED patients from a specialist hospital clinic were examined on measures tapping into COND and personality disorders. In our group of longstanding ED, 53% had at least one COND diagnosis; 23% had ASD, 17% had AD/HD, and 27% had a tic disorder. These preliminary data suggest that COND may be common in patients with severe ED and should be kept in mind when treating these patients.

  3. Autoantibodies to neurotransmitter receptors and ion channels: from neuromuscular to neuropsychiatric disorders

    Directory of Open Access Journals (Sweden)

    Pilar eMartinez-Martinez

    2013-09-01

    Full Text Available Changes of voltage-gated ion channels and ligand-gated receptor channels caused by mutation or autoimmune attack are the cause of so-called channelopathies in the central and peripheral nervous system. We present the pathophysiology of channelopathies of the neuromuscular junction in terms of loss-of-function and gain-of-function principles. Autoantibodies generally have reduced access to the CNS, but in some cases this is enough to cause disease. A review is provided of recent findings implicating autoantibodies against ligand–activated receptor channels and potassium channels in psychiatric and neurological disorders, including schizophrenia and limbic encephalitis. The emergence of channelopathy-related neuropsychiatric disorders has implications for research and practice.

  4. Diagnostic and treatment challenges in traumatic brain injury patients with severe neuropsychiatric symptoms: insights into psychiatric practice

    Directory of Open Access Journals (Sweden)

    Lauterbach MD

    2015-07-01

    Full Text Available Margo D Lauterbach,1 Paula L Notarangelo,1 Stephen J Nichols,2 Kristy S Lane,1 Vassilis E Koliatsos11The Neuropsychiatry Program at Sheppard Pratt, Sheppard Pratt Health System, Baltimore, MD, 2Department of Emergency Medicine, The University of Tennessee College of Medicine Chattanooga, Chattanooga, TN, USAAbstract: Traumatic brain injury (TBI causes a variety of neuropsychiatric problems that pose diagnostic and treatment challenges for providers. In this report, we share our experience as a referral neuropsychiatry program to assist the general psychiatrist when adult TBI patients with psychiatric symptoms present for evaluation and treatment. We completed a retrospective study of patients with moderate-to-severe TBI and severe neuropsychiatric impairments. We collected information on demographics, nature of injury, symptomatology, diagnoses, and treatments. Data analysis indicates that mood stabilization was a key concern, often requiring aggressive pharmacological management. Cognitive dysfunction was a problem for the majority of patients, but was only medicated in a third, due to poor efficacy or behavioral side effects. The co-occurrence of multiple TBI-related symptoms and diagnoses in this patient cohort emphasizes the need for individualized psychopharmacological approaches and interventions.Keywords: traumatic brain injury, neurobehavioral, treatment

  5. Management of Neuropsychiatric Systemic Lupus Erythematosus: Current Approaches and Future Perspectives.

    Science.gov (United States)

    Magro-Checa, César; Zirkzee, Elisabeth J; Huizinga, Tom W; Steup-Beekman, Gerda M

    2016-03-01

    Neuropsychiatric systemic lupus erythematosus (NPSLE) is a generic definition referring to a series of neurological and psychiatric symptoms directly related to systemic lupus erythematosus (SLE). NPSLE includes heterogeneous and rare neuropsychiatric (NP) manifestations involving both the central and peripheral nervous system. Due to the lack of a gold standard, the attribution of NP symptoms to SLE represents a clinical challenge that obligates the strict exclusion of any other potential cause. In the acute setting, management of these patients does not differ from other non-SLE subjects presenting with the same NP manifestation. Afterwards, an individualized therapeutic strategy, depending on the presenting manifestation and severity of symptoms, must be started. Clinical trials in NPSLE are scarce and most of the data are extracted from case series and case reports. High-dose glucocorticoids and intravenous cyclophosphamide remain the cornerstone for patients with severe symptoms that are thought to reflect inflammation or an underlying autoimmune process. Rituximab, intravenous immunoglobulins, or plasmapheresis may be used if response is not achieved. When patients present with mild to moderate NP manifestations, or when maintenance therapy is warranted, azathioprine and mycophenolate may be considered. When symptoms are thought to reflect a thrombotic underlying process, anticoagulation and antiplatelet agents are the mainstay of therapy, especially if antiphospholipid antibodies or antiphospholipid syndrome are present. Recent trials on SLE using new biologicals, based on newly understood SLE mechanisms, have shown promising results. Based on what we currently know about its pathogenesis, it is tempting to speculate how these new therapies may affect the management of NPSLE patients. This article provides a comprehensive and critical review of the literature on the epidemiology, pathophysiology, diagnosis, and management of NPSLE. We describe the most

  6. Examining the intersection of sex and stress in modelling neuropsychiatric disorders.

    Science.gov (United States)

    Goel, N; Bale, T L

    2009-03-01

    Sex-biased neuropsychiatric disorders, including major depressive disorder and schizophrenia, are the major cause of disability in the developed world. Elevated stress sensitivity has been proposed as a key underlying factor in disease onset. Sex differences in stress sensitivity are associated with corticotrophin-releasing factor (CRF) and serotonin neurotransmission, which are important central regulators of mood and coping responses. To elucidate the underlying neurobiology of stress-related disease predisposition, it is critical to develop appropriate animal models of stress pathway dysregulation. Furthermore, the inclusion of sex difference comparisons in stress responsive behaviours, physiology and central stress pathway maturation in these models is essential. Recent studies by our laboratory and others have begun to investigate the intersection of stress and sex where the development of mouse models of stress pathway dysregulation via prenatal stress experience or early-life manipulations has provided insight into points of developmental vulnerability. In addition, examination of the maturation of these pathways, including the functional importance of the organisational and activational effects of gonadal hormones on stress responsivity, is essential for determination of when sex differences in stress sensitivity may begin. In such studies, we have detected distinct sex differences in stress coping strategies where activational effects of testosterone produced females that displayed male-like strategies in tests of passive coping, but were similar to females in tests of active coping. In a second model of elevated stress sensitivity, male mice experiencing prenatal stress early in gestation showed feminised physiological and behavioural stress responses, and were highly sensitive to a low dose of selective serotonin reuptake inhibitors. Analyses of expression and epigenetic patterns revealed changes in CRF and glucocorticoid receptor genes in these mice

  7. Examining the intersection of sex and stress in modeling neuropsychiatric disorders

    Science.gov (United States)

    Goel, Nirupa; Bale, Tracy L.

    2009-01-01

    Sex-biased neuropsychiatric disorders, including major depressive disorder and schizophrenia, are the major cause of disability in the developed world. Elevated stress sensitivity has been proposed as a key underlying factor in disease onset. Sex differences in stress sensitivity are associated with CRF and serotonin neurotransmission, important central regulators of mood and coping responses. To elucidate the underlying neurobiology of stress-related disease predisposition, it is critical to develop appropriate animal models of stress pathway dysregulation. Further, the inclusion of sex difference comparisons in stress responsive behaviors, physiology, and central stress pathway maturation in these models is essential. Recent studies by our lab and others have begun to investigate the intersection of stress and sex where the development of mouse models of stress pathway dysregulation via prenatal stress experience or early life manipulations has provided insight into points of developmental vulnerability. In addition, examination of the maturation of these pathways including the functional importance of the organizational and activational effects of gonadal hormones on stress responsivity is essential for determination of when sex differences in stress sensitivity may begin. In such studies, we have detected distinct sex differences in stress coping strategies where activational effects of testosterone produced females that displayed male-like strategies in tests of passive coping, but were similar to females in tests of active coping. In a second model of elevated stress sensitivity, male mice experiencing prenatal stress early in gestation showed feminized physiological and behavioral stress responses, and were highly sensitive to a low dose of SSRI. Analyses of expression and epigenetic patterns revealed changes in CRF and glucocorticoid receptor genes in these mice. Mechanistically, stress early in pregnancy produced a significant sex-dependent effect on

  8. Activation of sigma-1 receptor chaperone in the treatment of neuropsychiatric diseases and its clinical implication

    Directory of Open Access Journals (Sweden)

    Kenji Hashimoto

    2015-01-01

    Full Text Available Endoplasmic reticulum (ER protein sigma-1 receptor represents unique chaperone activity in the central nervous system, and it exerts a potent influence on a number of neurotransmitter systems. Several lines of evidence suggest that activation of sigma-1 receptor plays a role in the pathophysiology of neuropsychiatric diseases, as well as in the mechanisms of some therapeutic drugs and neurosteroids. Preclinical studies showed that some selective serotonin reuptake inhibitors (SSRIs; fluvoxamine, fluoxetine, excitalopram, donepezil, and ifenprodil act as sigma-1 receptor agonists. Furthermore, sigma-1 receptor agonists could improve the N-methyl-D-aspartate (NMDA antagonist phencyclidine (PCP-induced cognitive deficits in mice. A study using positron emission tomography have demonstrated that an oral administration of fluvoxamine or donepezil could bind to sigma-1 receptor in the healthy human brain, suggesting that sigma-1 receptor might be involved in the therapeutic mechanisms of these drugs. Moreover, case reports suggest that sigma-1 receptor agonists, including fluvoxamine, and ifenprodil, may be effective in the treatment of cognitive impairment in schizophrenia, delirium in elderly people, and flashbacks in post-traumatic stress disorder. In this review article, the author would like to discuss the clinical implication of sigma-1 receptor agonists, including endogenous neurosteroids, in the neuropsychiatric diseases.

  9. Genetic Aspects of Autism Spectrum Disorders: Insights from Animal Models

    Directory of Open Access Journals (Sweden)

    Swati eBanerjee

    2014-02-01

    Full Text Available Autism spectrum disorders (ASD are a complex neurodevelopmental disorder that display a triad of core behavioral deficits including restricted interests, often accompanied by repetitive behavior, deficits in language and communication, and an inability to engage in reciprocal social interactions. ASD is among the most heritable disorders but is not a simple disorder with a singular pathology and has a rather complex etiology. It is interesting to note that perturbations in synaptic growth, development and stability underlie a variety of neuropsychiatric disorders, including ASD, schizophrenia, epilepsy and intellectual disability. Biological characterization of an increasing repertoire of synaptic mutants in various model organisms indicates synaptic dysfunction as causal in the pathophysiology of ASD. Our understanding of the genes and genetic pathways that contribute towards the formation, stabilization and maintenance of functional synapses coupled with an in-depth phenotypic analysis of the cellular and behavioral characteristics is therefore essential to unraveling the pathogenesis of these disorders. In this review, we discuss the genetic aspects of ASD emphasizing on the well conserved set of genes and genetic pathways implicated in this disorder, many of which contribute to synapse assembly and maintenance across species. We also review how fundamental research using animal models is providing key insights into the various facets of human ASD.

  10. Differential expression of Mediator complex subunit MED15 in testicular germ cell tumors.

    Science.gov (United States)

    Klümper, Niklas; Syring, Isabella; Offermann, Anne; Shaikhibrahim, Zaki; Vogel, Wenzel; Müller, Stefan C; Ellinger, Jörg; Strauß, Arne; Radzun, Heinz Joachim; Ströbel, Philipp; Brägelmann, Johannes; Perner, Sven; Bremmer, Felix

    2015-09-17

    Testicular germ cell tumors (TGCT) are the most common cancer entities in young men with increasing incidence observed in the last decades. For therapeutic management it is important, that TGCT are divided into several histological subtypes. MED15 is part of the multiprotein Mediator complex which presents an integrative hub for transcriptional regulation and is known to be deregulated in several malignancies, such as prostate cancer and bladder cancer role, whereas the role of the Mediator complex in TGCT has not been investigated so far. Aim of the study was to investigate the implication of MED15 in TGCT development and its stratification into histological subtypes. Immunohistochemical staining (IHC) against Mediator complex subunit MED15 was conducted on a TGCT cohort containing tumor-free testis (n = 35), intratubular germ cell neoplasia unclassified (IGCNU, n = 14), seminomas (SEM, n = 107) and non-seminomatous germ cell tumors (NSGCT, n = 42), further subdivided into embryonic carcinomas (EC, n = 30), yolk sac tumors (YST, n = 5), chorionic carcinomas (CC, n = 5) and teratomas (TER, n = 2). Quantification of MED15 protein expression was performed through IHC followed by semi-quantitative image analysis using the Definiens software. In tumor-free seminiferous tubules, MED15 protein expression was absent or only low expressed in spermatogonia. Interestingly, the precursor lesions IGCNU exhibited heterogeneous but partly very strong MED15 expression. SEM weakly express the Mediator complex subunit MED15, whereas NSGCT and especially EC show significantly enhanced expression compared to tumor-free testis. In conclusion, MED15 is differentially expressed in tumor-free testis and TGCT. While MED15 is absent or low in tumor-free testis and SEM, NSGCT highly express MED15, hinting at the diagnostic potential of this marker to distinguish between SEM and NSGCT. Further, the precursor lesion IGCNU showed increased nuclear MED15

  11. Searching PubMed for molecular epidemiology studies: the case of chromosome aberrations

    DEFF Research Database (Denmark)

    Ugolini, Donatella; Neri, Monica; Knudsen, Lisbeth E

    2006-01-01

    to environmental pollutants. The search, done on the PubMed/MedLine database, was based on a strategy combining descriptors listed in the PubMed Medical Subject Headings (MeSH) Thesaurus and other available tools (free text or phrase search tools). 178 articles were retrieved by searching the period from January 1...

  12. Severe Neuropsychiatric Reaction in a Deployed Military Member after Prophylactic Mefloquine

    Directory of Open Access Journals (Sweden)

    Alan L. Peterson

    2011-01-01

    Full Text Available Recent studies of military personnel who have deployed to Iraq and Afghanistan have reported a number of combat-related psychiatric disorders such as posttraumatic stress disorder, depression, and traumatic brain injury. This case report involves a 27-year-old male active-duty US military service member who developed severe depression, psychotic hallucinations, and neuropsychological sequelae following the prophylactic use of the antimalarial medication mefloquine hydrochloride. The patient had a recent history of depression and was taking antidepressant medications at the time of his deployment to the Middle East. Psychiatrists and other health care providers should be aware of the possible neuropsychiatric side effects of mefloquine in deployed military personnel and should consider the use of other medications for malaria prophylaxis in those individuals who may be at increased risk for side effects.

  13. Gut Microbiota Profiling and Gut-Brain Crosstalk in Children Affected by Pediatric Acute-Onset Neuropsychiatric Syndrome and Pediatric Autoimmune Neuropsychiatric Disorders Associated With Streptococcal Infections.

    Science.gov (United States)

    Quagliariello, Andrea; Del Chierico, Federica; Russo, Alessandra; Reddel, Sofia; Conte, Giulia; Lopetuso, Loris R; Ianiro, Gianluca; Dallapiccola, Bruno; Cardona, Francesco; Gasbarrini, Antonio; Putignani, Lorenza

    2018-01-01

    Pediatric acute-onset neuropsychiatric syndrome (PANS) and pediatric autoimmune neuropsychiatric disorders associated with streptococcal infections syndrome (PANDAS) are conditions that impair brain normal neurologic function, resulting in the sudden onset of tics, obsessive-compulsive disorder, and other behavioral symptoms. Recent studies have emphasized the crosstalk between gut and brain, highlighting how gut composition can influence behavior and brain functions. Thus, the present study investigates the relationship between PANS/PANDAS and gut microbiota ecology. The gut composition of a cohort of 30 patients with PANS/PANDAS was analyzed and compared to control subjects using 16S rRNA-based metagenomics. Data were analyzed for their α- and β-diversity; differences in bacterial distribution were detected by Wilcoxon and LEfSe tests, while metabolic profile was predicted via PICRUSt software. These analyses demonstrate the presence of an altered bacterial community structure in PANS/PANDAS patients with respect to controls. In particular, ecological analysis revealed the presence of two main clusters of subjects based on age range. Thus, to avoid age bias, data from patients and controls were split into two groups: 4-8 years old and >9 years old. The younger PANS/PANDAS group was characterized by a strong increase in Bacteroidetes; in particular, Bacteroides , Odoribacter , and Oscillospira were identified as potential microbial biomarkers of this composition type. Moreover, this group exhibited an increase of several pathways concerning the modulation of the antibody response to inflammation within the gut as well as a decrease in pathways involved in brain function (i.e., SCFA, D-alanine and tyrosine metabolism, and the dopamine pathway). The older group of patients displayed a less uniform bacterial profile, thus impairing the identification of distinct biomarkers. Finally, Pearson's analysis between bacteria and anti-streptolysin O titer reveled a

  14. Ion sources for MedAustron

    International Nuclear Information System (INIS)

    Lettry, J.; Penescu, L.; Wallner, J.; Sargsyan, E.

    2010-01-01

    The MedAustron Ion therapy center will be constructed in Wiener Neustadt (Austria) in the vicinity of Vienna. Its accelerator complex consists of four ion sources, a linear accelerator, a synchrotron, and a beam delivery system to the three medical treatment rooms and to the research irradiation room. The ion sources shall deliver beams of H 3 1+ , C 4+ , and light ions with utmost reliability and stability. This paper describes the features of the ion sources presently planned for the MedAustron facility, such as ion source main parameters, gas injection, temperature control, and cooling systems. A dedicated beam diagnostics technique is proposed in order to characterize electron cyclotron resonance (ECR) ion beams; in the first drift region after the ion source, a fraction of the mixed beam is selected via moveable aperture. With standard beam diagnostics, we then aim to produce position-dependant observables such as ion-current density, beam energy distribution, and emittance for each charge states to be compared to simulations of ECR e-heating, plasma simulation, beam formation, and transport.

  15. MedAustron board visits CERN

    CERN Multimedia

    CERN Bulletin

    On 14 October, the board of EBG MedAustron, which is overseeing the construction of Austria’s hadron therapy centre, visited CERN. The visit recognized the relationship of shared knowledge, technology and training between CERN and MedAustron.   Normal.dotm 0 0 1 17 98 cern 1 1 120 12.0 0 false 18 pt 18 pt 0 0 false false false /* Style Definitions */ table.MsoNormalTable {mso-style-name:"Table Normal"; mso-tstyle-rowband-size:0; mso-tstyle-colband-size:0; mso-style-noshow:yes; mso-style-parent:""; mso-padding-alt:0cm 5.4pt 0cm 5.4pt; mso-para-margin-top:0cm; mso-para-margin-right:0cm; mso-para-margin-bottom:10.0pt; mso-para-margin-left:0cm; line-height:115%; mso-pagination:widow-orphan; font-size:12.0pt; font-family:"Times New Roman"; mso-ascii-font-family:Calibri; mso-ascii-theme-font:minor-latin; mso-fareast-font-family:"Times New Roman"; mso-fareast-theme-font:minor-fareast; mso-hansi-font-family:Calibri; mso-hansi-theme-font:minor-latin;} ...

  16. Signal detection to identify serious adverse events (neuropsychiatric events in travelers taking mefloquine for chemoprophylaxis of malaria

    Directory of Open Access Journals (Sweden)

    Naing C

    2012-08-01

    Full Text Available Cho Naing,1,3 Kyan Aung,1 Syed Imran Ahmed,2 Joon Wah Mak31School of Medical Sciences, 2School of Pharmacy and Health Sciences, 3School of Postgraduate Studies and Research, International Medical University, Kuala Lumpur, MalaysiaBackground: For all medications, there is a trade-off between benefits and potential for harm. It is important for patient safety to detect drug-event combinations and analyze by appropriate statistical methods. Mefloquine is used as chemoprophylaxis for travelers going to regions with known chloroquine-resistant Plasmodium falciparum malaria. As such, there is a concern about serious adverse events associated with mefloquine chemoprophylaxis. The objective of the present study was to assess whether any signal would be detected for the serious adverse events of mefloquine, based on data in clinicoepidemiological studies.Materials and methods: We extracted data on adverse events related to mefloquine chemoprophylaxis from the two published datasets. Disproportionality reporting of adverse events such as neuropsychiatric events and other adverse events was presented in the 2 × 2 contingency table. Reporting odds ratio and corresponding 95% confidence interval [CI] data-mining algorithm was applied for the signal detection. The safety signals are considered significant when the ROR estimates and the lower limits of the corresponding 95% CI are ≥2.Results: Two datasets addressing adverse events of mefloquine chemoprophylaxis (one from a published article and one from a Cochrane systematic review were included for analyses. Reporting odds ratio 1.58, 95% CI: 1.49–1.68 based on published data in the selected article, and 1.195, 95% CI: 0.94–1.44 based on data in the selected Cochrane review. Overall, in both datasets, the reporting odds ratio values of lower 95% CI were less than 2.Conclusion: Based on available data, findings suggested that signals for serious adverse events pertinent to neuropsychiatric event were

  17. The inclusion of an online journal in PubMed central - a difficult path.

    Science.gov (United States)

    Grech, Victor

    2016-01-01

    The indexing of a journal in a prominent database (such as PubMed) is an important imprimatur. Journals accepted for inclusion in PubMed Central (PMC) are automatically indexed in PubMed but must provide the entire contents of their publications as XML-tagged (Extensible Markup Language) data files compliant with PubMed's document type definition (DTD). This paper describes the various attempts that the journal Images in Paediatric Cardiology made in its efforts to convert the journal contents (including all of the extant backlog) to PMC-compliant XML for archiving and indexing in PubMed after the journal was accepted for inclusion by the database.

  18. Gaps in affiliation indexing in Scopus and PubMed.

    Science.gov (United States)

    Schmidt, Cynthia M; Cox, Roxanne; Fial, Alissa V; Hartman, Teresa L; Magee, Martha L

    2016-04-01

    The authors sought to determine whether unexpected gaps existed in Scopus's author affiliation indexing of publications written by the University of Nebraska Medical Center or Nebraska Medicine (UNMC/NM) authors during 2014. First, we compared Scopus affiliation identifier search results to PubMed affiliation keyword search results. Then, we searched Scopus using affiliation keywords (UNMC, etc.) and compared the results to PubMed affiliation keyword and Scopus affiliation identifier searches. We found that Scopus's records for approximately 7% of UNMC/NM authors' publications lacked appropriate UNMC/NM author affiliation identifiers, and many journals' publishers were supplying incomplete author affiliation information to PubMed. Institutions relying on Scopus to track their impact should determine whether Scopus's affiliation identifiers will, in fact, identify all articles published by their authors and investigators.

  19. Med politiet i ’virkeligheden’: Reality-tv og kriminalitet

    Directory of Open Access Journals (Sweden)

    Ib Bondebjerg

    2002-09-01

    Full Text Available Kriminalstoffet på tv bliver ofte anklaget for at spekulere i vore lavere instinkter, og med reality kommer vi tættere end nogensinde på sam- fundets bund og det utrættelige politi, som har til opgave at opretholde lov og orden. Artiklen gennemgår en lang række af de senere års kri- minalprogrammer og diskuterer dokumentarismens former med en særlig belysning af æstetik, retorik og synsvinkel i undergenrerne »reality magasin« og »reality soap«. Lars Engels’ serie »Historier fra en politistation« tages op til særlig debat, fordi Engels – vanen tro – arbejder med en mindre iscenesættelse og ukommenteret virkelig- hedsgengivelse, end vi finder det i andre »reality soaps«.

  20. Planning and scheduling algorithms for the COSMO-SkyMed constellation

    NARCIS (Netherlands)

    Bianchessi, Nicola; Righini, Giovanni

    2008-01-01

    The COSMO-SkyMed satellite constellation for the observation of the Earth is made of four satellites equipped with radar instruments and is intended for dual use, i.e. for security as well as for environmental monitoring purpose. The planning and scheduling problem for the COSMO-SkyMed constellation

  1. Neuropsychiatric Outcome of an Adolescent Who Received Deep Brain Stimulation for Tourette's Syndrome

    Directory of Open Access Journals (Sweden)

    S. J. Pullen

    2011-01-01

    Full Text Available This case study followed one adolescent patient who underwent bilateral deep brain stimulation of the centromedian parafascicular complex (CM-Pf for debilitating, treatment refractory Tourette's syndrome for a period of 1.5 years. Neurocognitive testing showed no significant changes between baseline and follow-up assessments. Psychiatric assessment revealed positive outcomes in overall adaptive functioning and reduction in psychotropic medication load in this patient. Furthermore, despite significant baseline psychiatric comorbidity, this patient reported no suicidal ideation following electrode implantation. Deep brain stimulation is increasingly being used in children and adolescents. This case reports on the positive neurologic and neuropsychiatric outcome of an adolescent male with bilateral CM-Pf stimulation.

  2. Vejbygning i områder med permafrost

    DEFF Research Database (Denmark)

    Jørgensen, Anders Stuhr

    2009-01-01

    Siden begyndelsen af 1990’erne er der registreret en markant stigning i den årlige middeltemperatur i Nunavik, Québec Canada. Dette har ført til en reduktion i udbredelsen af permafrost, hvilket truer stabiliteten af lufthavne og veje i området. I sommeren 2007 blev en teststrækning opført i...... Tasiujaq Lufthavn for at studere effekten af tre forskellige metoder, som skal være med til at reducere optøningen af permafrost under landingsbanen. De tre metoder, som er blevet undersøgt, er konvektionskøling (air convection embankment), varmeudtrækning (heat drain) samt et forsøg med ændring af...

  3. Grønnere skibsfart med modstandsdygtige motorer

    DEFF Research Database (Denmark)

    Lassen, Lisbeth

    2015-01-01

    Udledningen af forurening fra skibsmotorer skal sænkes kraftigt i de kommende år, og derfor står den maritime industri overfor helt nye krav til blandt andet hvilke brændstoffer, man kan bruge. På grund af de nye regler, der begrænser skibenes energiforbrug, er man også begyndt at sejle med nedsa...... foregår i samarbejde med DTU Kemiteknik og MAN Diesel & Turbo....... hastighed. Både de nye brændstoftyper og den nedsatte hastighed giver problemer for skibsmotorerne, problemer som projektet SULCOR, Sulfuric Acid corrosion in Large Marine Diesel Engines, netop har modtaget 16 millioner kr. fra Innovationsfonden til at begynde at løse. Projektet ledes af DTU Mekanik og...

  4. Projekt Frit Sind hjælper mennesker med social angst

    DEFF Research Database (Denmark)

    Moutamid, Mina El

    2017-01-01

    Social angst er en almindelig, men overset lidelse, som ofte er forbundet med isolation. Mange fortæller ikke om den angst, de oplever, til andre og kommer til at leve et liv med begrænsninger, som de kunne være foruden, hvis de fik hjælp. Angsten betyder også, at det kan være svært at komme...... hjemmefra og opsøge hjælp hos SIND eller andre rådgivninger. Frit Sind er et nyt tilbud i København til disse mennesker og har fokus på de specifikke behov, mennesker med social angst har....

  5. Constraints on Biological Mechanism from Disease Comorbidity Using Electronic Medical Records and Database of Genetic Variants.

    Directory of Open Access Journals (Sweden)

    Steven C Bagley

    2016-04-01

    Full Text Available Patterns of disease co-occurrence that deviate from statistical independence may represent important constraints on biological mechanism, which sometimes can be explained by shared genetics. In this work we study the relationship between disease co-occurrence and commonly shared genetic architecture of disease. Records of pairs of diseases were combined from two different electronic medical systems (Columbia, Stanford, and compared to a large database of published disease-associated genetic variants (VARIMED; data on 35 disorders were available across all three sources, which include medical records for over 1.2 million patients and variants from over 17,000 publications. Based on the sources in which they appeared, disease pairs were categorized as having predominant clinical, genetic, or both kinds of manifestations. Confounding effects of age on disease incidence were controlled for by only comparing diseases when they fall in the same cluster of similarly shaped incidence patterns. We find that disease pairs that are overrepresented in both electronic medical record systems and in VARIMED come from two main disease classes, autoimmune and neuropsychiatric. We furthermore identify specific genes that are shared within these disease groups.

  6. "Balkan journal of medical genetics"--facts, editorial policies, practices and challenges.

    Science.gov (United States)

    Plaseska Karanfilska, Dijana; Sukarova Stefanovska, Emilija

    2014-01-01

    The Balkan Journal of Medical Genetics (BJMG) is an international, open access journal that publishes scientific papers covering different aspects of medical genetics. It is published by the Macedonian Academy of Sciences and Arts twice a year in both printed and electronic versions. BJMG is covered by many abstracting and indexing databases, including PubMed Central and Thomson Reuters. Although there are many journals in the field of medical genetics, only a few come from regions outside Western Europe and North America. Being one of these few journals, BJMG aims to promote genetics and research on this topic in the Balkan countries and beyond. BJMG's ultimate goal is to raise the scientific quality and metrics of the journal and provide a better place for BJMG in the community of scientific journals.

  7. Et eller andet med sprog

    DEFF Research Database (Denmark)

    Adamsen, Billy; Nielsen, Charlotte Marie Bisgaard; Dam Christensen, Mie

    2012-01-01

    bedre sted, intet mindre. - Jeg frygter at de kommer til at kede sig på et reklamebureau med fx at lave kampagner og drikke champagne. Så jeg prøver at tale dem fra det. De skal finde ud af, hvem de er og hvad de gerne vil bruge deres liv på. Rådgiver for statsministeren Billy Adamsen har en phd i...

  8. Symptom Cluster Research With Biomarkers and Genetics Using Latent Class Analysis.

    Science.gov (United States)

    Conley, Samantha

    2017-12-01

    The purpose of this article is to provide an overview of latent class analysis (LCA) and examples from symptom cluster research that includes biomarkers and genetics. A review of LCA with genetics and biomarkers was conducted using Medline, Embase, PubMed, and Google Scholar. LCA is a robust latent variable model used to cluster categorical data and allows for the determination of empirically determined symptom clusters. Researchers should consider using LCA to link empirically determined symptom clusters to biomarkers and genetics to better understand the underlying etiology of symptom clusters. The full potential of LCA in symptom cluster research has not yet been realized because it has been used in limited populations, and researchers have explored limited biologic pathways.

  9. Combat veterans and the death penalty: a forensic neuropsychiatric perspective.

    Science.gov (United States)

    Wortzel, Hal S; Arciniegas, David B

    2010-01-01

    With our nation's present conflicts, a new generation of veterans are returning home, many of whom have substantial psychopathology and are encountering significant barriers in accessing care. Headlines from around the nation reflect that some of these wounded warriors go on to commit offenses that are potentially punishable by death. Existing circumstances speak to the urgency with which the subject of combat veterans with post-traumatic stress disorder (PTSD), traumatic brain injury (TBI), or both facing capital crimes ought to be addressed. This publicity has led to a recent call for a legislatively or judicially enacted, narrow, categorical exclusion for combat veterans who were affected by either PTSD or TBI at the time of their capital offenses. In the present article, we illustrate the reality that combat veterans who commit capital offenses may face execution, summarize legal arguments offered in favor of a categorical exclusion, and provide a neuropsychiatric perspective on PTSD, TBI, and aggression, to help inform further dialogue on this weighty subject.

  10. Heritability of brain activity related to response inhibition: a longitudinal genetic study in adolescent twins

    Science.gov (United States)

    Anokhin, Andrey P.; Golosheykin, Simon; Grant, Julia D.; Heath, Andrew C.

    2017-01-01

    The ability to inhibit prepotent but context- or goal-inappropriate responses is essential for adaptive self-regulation of behavior. Deficits in response inhibition, a key component of impulsivity, have been implicated as a core dysfunction in a range of neuropsychiatric disorders such as ADHD and addictions. Identification of genetically transmitted variation in the neural underpinnings of response inhibition can help to elucidate etiological pathways to these disorders and establish the links between genes, brain, and behavior. However, little is known about genetic influences on the neural mechanisms of response inhibition during adolescence, a developmental period characterized by weak self-regulation of behavior. Here we investigated heritability of ERPs elicited in a Go/No-Go task in a large sample of adolescent twins assessed longitudinally at ages 12, 14, and 16. Genetic analyses showed significant heritability of inhibition-related frontal N2 and P3 components at all three ages, with 50 to 60% of inter-individual variability being attributable to genetic factors. These genetic influences included both common genetic factors active at different ages and novel genetic influences emerging during development. Finally, individual differences in the rate of developmental changes from age 12 to age 16 were significantly influenced by genetic factors. In conclusion, the present study provides the first evidence for genetic influences on neural correlates of response inhibition during adolescence and suggests that ERPs elicited in the Go/No-Go task can serve as intermediate neurophysiological phenotypes (endophenotypes) for the study of disinhibition and impulse control disorders. PMID:28300615

  11. A synergetic hybridization of adsorption cycle with the multi-effect distillation (MED)

    KAUST Repository

    Thu, K.

    2014-01-01

    Multi-effect distillation (MED) systems are proven and energy efficient thermally-driven desalination systems for handling harsh seawater feed in the Gulf region. The high cycle efficiency is markedly achieved by latent energy re-use with minimal stage temperature-difference across the condensing steam and the evaporating saline seawater in each stage. The efficacies of MED system are (i) its low stage-temperature-difference between top brine temperature (TBT) and final condensing temperature, (ii) its robustness to varying salinity and ability to handle harmful algae Blooming (HABs) and (iii) its compact foot-print per unit water output. The practical TBT of MED systems, hitherto, is around 65 C for controllable scaling and fouling with the ambient-limited final condenser temperature, usually from 30 to 45 C. The adsorption (ADC) cycles utilize low-temperature heat sources (typically below 90 C) to produce useful cooling power and potable water. Hybridizing MED with AD cycles, they synergistically improve the water production rates at the same energy input whilst the AD cycle is driven by the recovered waste heat. We present a practical AD + MED combination that can be retrofitted to existing MEDs: The cooling energy of AD cycle through the water vapor uptake by the adsorbent is recycled internally, providing lower temperature condensing environment in the effects whilst the final condensing temperature of MED is as low as 5-10 C, which is below ambient. The increase in the temperature difference between TBT and final condensing temperature accommodates additional MED stages. A detailed numerical model is presented to capture the transient behaviors of heat and mass interactions in the combined AD + MED cycles and the results are presented in terms of key variables. It is observed that the water production rates of the combined cycle increase to give a GOR of 8.8 from an initial value of 5.9. © 2013 Elsevier Ltd. All rights reserved.

  12. A Systematic Review and Meta-Analysis of Ginkgo biloba in Neuropsychiatric Disorders: From Ancient Tradition to Modern-Day Medicine

    Directory of Open Access Journals (Sweden)

    Natascia Brondino

    2013-01-01

    Full Text Available Ginkgo biloba (Gb has demonstrated antioxidant and vasoactive properties as well as clinical benefits in several conditions such as ischemia, epilepsy, and peripheral nerve damage. Additionally, Gb is supposed to act as potential cognitive enhancer in dementia. So far, several trials have been conducted to investigate the potential effectiveness of Gb in neuropsychiatric conditions. However, the results of these studies remain controversial. We conducted a systematic review and a meta-analysis of three randomised controlled trials in patients with schizophrenia and eight randomised controlled trials in patients with dementia. Gb treatment reduced positive symptoms in patients with schizophrenia and improved cognitive function and activities of daily living in patients with dementia. No effect of Gb on negative symptoms in schizophrenic patients was found. The general lack of evidence prevents drawing conclusions regarding Gb effectiveness in other neuropsychiatric conditions (i.e., autism, depression, anxiety, attention-deficit hyperactivity disorder, and addiction. Our data support the use of Gb in patients with dementia and as an adjunctive therapy in schizophrenic patients.

  13. MedBlock: Efficient and Secure Medical Data Sharing Via Blockchain.

    Science.gov (United States)

    Fan, Kai; Wang, Shangyang; Ren, Yanhui; Li, Hui; Yang, Yintang

    2018-06-21

    With the development of electronic information technology, electronic medical records (EMRs) have been a common way to store the patients' data in hospitals. They are stored in different hospitals' databases, even for the same patient. Therefore, it is difficult to construct a summarized EMR for one patient from multiple hospital databases due to the security and privacy concerns. Meanwhile, current EMRs systems lack a standard data management and sharing policy, making it difficult for pharmaceutical scientists to develop precise medicines based on data obtained under different policies. To solve the above problems, we proposed a blockchain-based information management system, MedBlock, to handle patients' information. In this scheme, the distributed ledger of MedBlock allows the efficient EMRs access and EMRs retrieval. The improved consensus mechanism achieves consensus of EMRs without large energy consumption and network congestion. In addition, MedBlock also exhibits high information security combining the customized access control protocols and symmetric cryptography. MedBlock can play an important role in the sensitive medical information sharing.

  14. Vekst, metabolisme og ølbrygging med melkesyrebakterier og gjær

    OpenAIRE

    Kvam, Guro

    2017-01-01

    Ølbrygging er et håndverk forbundet med lange tradisjoner, med røtter tilbake til det 12. århundrets Europa. Før dagens mikrobiologiske teknikker ble oppfunnet var all øl spontangjæret med en kompleks sammensetning av ulike gjær- og bakteriestammer. I dag produseres fremdeles enkelte av disse ølsortene under navn som lambic, geuze eller Berliner weisse, og interessen for slike ølsorter har økt betraktelig de siste årene. Mange bryggerier benytter i dag kjente kulturer av gjær og melkesyrebakt...

  15. Role for the MED21-MED7 Hinge in Assembly of the Mediator-RNA Polymerase II Holoenzyme*

    Science.gov (United States)

    Sato, Shigeo; Tomomori-Sato, Chieri; Tsai, Kuang-Lei; Yu, Xiaodi; Sardiu, Mihaela; Saraf, Anita; Washburn, Michael P.; Florens, Laurence; Asturias, Francisco J.; Conaway, Ronald C.

    2016-01-01

    Mediator plays an integral role in activation of RNA polymerase II (Pol II) transcription. A key step in activation is binding of Mediator to Pol II to form the Mediator-Pol II holoenzyme. Here, we exploit a combination of biochemistry and macromolecular EM to investigate holoenzyme assembly. We identify a subset of human Mediator head module subunits that bind Pol II independent of other subunits and thus probably contribute to a major Pol II binding site. In addition, we show that binding of human Mediator to Pol II depends on the integrity of a conserved “hinge” in the middle module MED21-MED7 heterodimer. Point mutations in the hinge region leave core Mediator intact but lead to increased disorder of the middle module and markedly reduced affinity for Pol II. These findings highlight the importance of Mediator conformation for holoenzyme assembly. PMID:27821593

  16. A Rapid Systematic Review of Outcomes Studies in Genetic Counseling.

    Science.gov (United States)

    Madlensky, Lisa; Trepanier, Angela M; Cragun, Deborah; Lerner, Barbara; Shannon, Kristen M; Zierhut, Heather

    2017-06-01

    As healthcare reimbursement is increasingly tied to value-of-service, it is critical for the genetic counselor (GC) profession to demonstrate the value added by GCs through outcomes research. We conducted a rapid systematic literature review to identify outcomes of genetic counseling. Web of Science (including PubMed) and CINAHL databases were systematically searched to identify articles meeting the following criteria: 1) measures were assessed before and after genetic counseling (pre-post design) or comparisons were made between a GC group vs. a non-GC group (comparative cohort design); 2) genetic counseling outcomes could be assessed independently of genetic testing outcomes, and 3) genetic counseling was conducted by masters-level genetic counselors, or non-physician providers. Twenty-three papers met the inclusion criteria. The majority of studies were in the cancer genetic setting and the most commonly measured outcomes included knowledge, anxiety or distress, satisfaction, perceived risk, genetic testing (intentions or receipt), health behaviors, and decisional conflict. Results suggest that genetic counseling can lead to increased knowledge, perceived personal control, positive health behaviors, and improved risk perception accuracy as well as decreases in anxiety, cancer-related worry, and decisional conflict. However, further studies are needed to evaluate a wider array of outcomes in more diverse genetic counseling settings.

  17. Den fuldt åbne MOOC med afsæt i aktuelle deltagere

    DEFF Research Database (Denmark)

    Hansbøl, Mikala; Erkmann, Malene; Munksgaard, Marianne Eilsø

    2015-01-01

    I dette afsnit præsenterer vi nogle af erfaringerne fra arbejdet med fire versioner af Videnskabsteori MOOC’en. Erfaringerne tager afsæt i vores kvalitative undersøgelser af deltagerperspektiver (UCSJ undervisere og MOOC deltagere) på MOOC-understøttet undervisning i, og læring af, anvendt...... videnskabsteori. MOOC litteraturen havde indtil 2013 primært beskæftiget sig med universitetsuddannelse, og der var stort set ikke skrevet noget om MOOCs i en dansk sammenhæng. Kjærgaard et al. (2013) leverede et første dansk bidrag, der kobler MOOCs med professionshøjskolerne i Danmark. Arbejdet med...... Videnskabsteori MOOC’en har især taget afsæt i en interesse i at forstå samspillet mellem deltagerforudsætninger, interesser og behov, og læringsmulighederne med MOOC’en. På den baggrund udpeger vi nogle væsentlige designelementer, der kan medtænkes i fremtidige udviklinger af tilsvarende fuldt åbne MOOCs...

  18. PubMed had a higher sensitivity than Ovid-MEDLINE in the search for systematic reviews.

    Science.gov (United States)

    Katchamart, Wanruchada; Faulkner, Amy; Feldman, Brian; Tomlinson, George; Bombardier, Claire

    2011-07-01

    To compare the performance of Ovid-MEDLINE vs. PubMed for identifying randomized controlled trials of methotrexate (MTX) in patients with rheumatoid arthritis (RA). We created search strategies for Ovid-MEDLINE and PubMed for a systematic review of MTX in RA. Their performance was evaluated using sensitivity, precision, and number needed to read (NNR). Comparing searches in Ovid-MEDLINE vs. PubMed, PubMed retrieved more citations overall than Ovid-MEDLINE; however, of the 20 citations that met eligibility criteria for the review, Ovid-MEDLINE retrieved 17 and PubMed 18. The sensitivity was 85% for Ovid-MEDLINE vs. 90% for PubMed, whereas the precision and NNR were comparable (precision: 0.881% for Ovid-MEDLINE vs. 0.884% for PubMed and NNR: 114 for Ovid-MEDLINE vs. 113 for PubMed). In systematic reviews of RA, PubMed has higher sensitivity than Ovid-MEDLINE with comparable precision and NNR. This study highlights the importance of well-designed database-specific search strategies. Copyright © 2010 Elsevier Inc. All rights reserved.

  19. How Complementary and Alternative Medicine Practitioners Use PubMed

    Science.gov (United States)

    Quint-Rapoport, Mia

    2007-01-01

    Background PubMed is the largest bibliographic index in the life sciences. It is freely available online and is used by professionals and the public to learn more about medical research. While primarily intended to serve researchers, PubMed provides an array of tools and services that can help a wider readership in the location, comprehension, evaluation, and utilization of medical research. Objective This study sought to establish the potential contributions made by a range of PubMed tools and services to the use of the database by complementary and alternative medicine practitioners. Methods In this study, 10 chiropractors, 7 registered massage therapists, and a homeopath (N = 18), 11 with prior research training and 7 without, were taken through a 2-hour introductory session with PubMed. The 10 PubMed tools and services considered in this study can be divided into three functions: (1) information retrieval (Boolean Search, Limits, Related Articles, Author Links, MeSH), (2) information access (Publisher Link, LinkOut, Bookshelf ), and (3) information management (History, Send To, Email Alert). Participants were introduced to between six and 10 of these tools and services. The participants were asked to provide feedback on the value of each tool or service in terms of their information needs, which was ranked as positive, positive with emphasis, negative, or indifferent. Results The participants in this study expressed an interest in the three types of PubMed tools and services (information retrieval, access, and management), with less well-regarded tools including MeSH Database and Bookshelf. In terms of their comprehension of the research, the tools and services led the participants to reflect on their understanding as well as their critical reading and use of the research. There was universal support among the participants for greater access to complete articles, beyond the approximately 15% that are currently open access. The abstracts provided by PubMed were

  20. Professionel praksis i botilbud for mennesker med udviklingshæmning

    DEFF Research Database (Denmark)

    Engen, Mie

    I dag varetager man i Danmark hovedsageligt omsorgen for mennesker med udviklingshæmning, der har behov for hjælp og støtte på døgnbasis, i § 107/108 boformer oprettet efter Lov om Social Service og Almenboliglovens § 105. Formålet med den professionelle praksis i boformerne er at varetage disse ...

  1. Med-Ro Hybrid desalination as option to supply fresh water in BABEL Islands Province

    International Nuclear Information System (INIS)

    Siti Alimah; Sudi Ariyanto; June Mellawati; Budiarto

    2011-01-01

    Med-Ro hybrid desalination systems are combining both thermal (Med) and membrane (Ro) desalination processes with power generation systems. This configuration has more economical and operational benefits in comparison with single desalination plant. Hybrid configurations are characterized by flexibility in operation, specific energy consumption (33.50 kWh/m 3 ) is lower than Med (36.54 kWh/m 3 ) and high plant availability. The objective of study is to analyze the Med-Ro hybrid desalination as an option to add supply fresh water in Babel Islands Province, in terms of technology and economy aspects. The result of study showed that adopting nuclear power plants as dual-purpose for power generation and producing fresh water is has economic competitiveness than fossil-fired generation plants. Med-Ro hybrid configuration, with feed Ro from heat rejection of Med system is suitable as fresh water supply add option because increase of Ro feed temperature will increase flux. Economic analysis of water cost are performed using the Deep-3.2. Water cost of hybrid Med-Ro desalination with energy of NPP (0.581 $/m ) is lower than that of Med water cost (0.752 $/m ) . Water cost of hybrid Med-Ro with energy of NPP (0.581 $/m ) is lower than that of water cost of energy with fossil-fired generation plants (0.720 $/m 3 ). (author)

  2. Digital kommunikation med den offentlige sektor

    DEFF Research Database (Denmark)

    Berger, Jesper; Andersen, Kim Normann

    2013-01-01

    Denne rapport sammenfatter hovedresultaterne af en undersøgelse gennemført i juni måned 2013 om besvarelse af e-mail og digital post i den statslige, regionale og kommunale sektor. Allerede med eDag3 1. nov. 2010 skulle alle myndigheder have oprettet en digital postkasse, som borgerne kunne skrive...... til. I denne undersøgelse sættes der fokus på myndighedernes besvarelse af den digitale post. Digital post blev bl.a. etableret som et alternativ til almindelig e-mail for at det offentlige kan kommunikere med borgere og virksomheder på en sikker måde, dvs. uden at uvedkommende kan få adgang til...... følsomme oplysninger. Fokus for undersøgelsen er hvordan håndterer myndighederne besvarelserne i den digitale postkasse: svarer de på digital post og e-mail, hvor hurtigt svarer de og er svarene brugbare? Undersøgelsen medtager myndighedernes besvarelse af digital post og e-mail, dels for at kunne...

  3. Digital kommunikation med den offentlige sektor

    DEFF Research Database (Denmark)

    Berger, Jesper Bull; Andersen, Kim Normann

    Denne rapport sammenfatter hovedresultaterne for styrelser og statslige organisationer af en undersøgelse gennemført i sommeren 2013 om besvarelse af e-mail og digital post i den statslige, regionale og kommunale sektor. Allerede med eDag3 1. nov. 2010 skulle alle myndigheder have oprettet en...... digital postkasse, som borgerne kunne skrive til. I denne undersøgelse sættes der fokus på myndighedernes besvarelse af den digitale post. Digital post blev bl.a. etableret som et alternativ til almindelig e-mail for at det offentlige kan kommunikere med borgere og virksomheder på en sikker måde, dvs....... uden at uvedkommende kan få adgang til følsomme oplysninger. Fokus for undersøgelsen er hvordan håndterer myndighederne besvarelserne i den digitale postkasse: svarer de på digital post og e-mail, hvor hurtigt svarer de og er svarene brugbare? Vi har også undersøgt besvarelse af e-mail, dels...

  4. Tværsektorielt samarbejde ved behandling af patienter med type 2-diabetes

    DEFF Research Database (Denmark)

    Munch, Lene; Røder, Michael E; Hansen, Ida H

    2018-01-01

    Hovedbudskaber • Sundhedsstyrelsen lægger vægt på tværsektorielt samarbejde omkring patienten med type 2-diabetes, men denne tankegang er dog ikke implementeret i det danske sundhedsvæsen • På organisatorisk niveau kan en stratificerings- og forløbsmodel give anvisninger til opgave- og...... udnyttelse af sundhedsvæsenets ressourcer samtidig med, at behandling af høj kvalitet fastholdes og udvikles for patienter med type 2-diabetes...

  5. MedRapid--medical community & business intelligence system.

    Science.gov (United States)

    Finkeissen, E; Fuchs, H; Jakob, T; Wetter, T

    2002-01-01

    currently, it takes at least 6 months for researchers to communicate their results. This delay is caused (a) by partial lacks of machine support for both representation as well as communication and (b) by media breaks during the communication process. To make an integrated communication between researchers and practitioners possible, a general structure for medical content representation has been set up. The procedure for data entry and quality management has been generalized and implemented in a web-based authoring system. The MedRapid-system supports the medical experts in entering their knowledge into a database. Here, the level of detail is still below that of current medical guidelines representation. However, the symmetric structure for an area-wide medical knowledge representation is highly retrievable and thus can quickly be communicated into daily routine for the improvement of the treatment quality. In addition, other sources like journal articles and medical guidelines can be references within the MedRapid-system and thus be communicated into daily routine. The fundamental system for the representation of medical reference knowledge (from reference works/books) itself is not sufficient for the friction-less communication amongst medical staff. Rather, the process of (a) representing medical knowledge, (b) refereeing the represented knowledge, (c) communicating the represented knowledge, and (d) retrieving the represented knowledge has to be unified. MedRapid will soon support the whole process on one server system.

  6. Improving accuracy for identifying related PubMed queries by an integrated approach.

    Science.gov (United States)

    Lu, Zhiyong; Wilbur, W John

    2009-10-01

    PubMed is the most widely used tool for searching biomedical literature online. As with many other online search tools, a user often types a series of multiple related queries before retrieving satisfactory results to fulfill a single information need. Meanwhile, it is also a common phenomenon to see a user type queries on unrelated topics in a single session. In order to study PubMed users' search strategies, it is necessary to be able to automatically separate unrelated queries and group together related queries. Here, we report a novel approach combining both lexical and contextual analyses for segmenting PubMed query sessions and identifying related queries and compare its performance with the previous approach based solely on concept mapping. We experimented with our integrated approach on sample data consisting of 1539 pairs of consecutive user queries in 351 user sessions. The prediction results of 1396 pairs agreed with the gold-standard annotations, achieving an overall accuracy of 90.7%. This demonstrates that our approach is significantly better than the previously published method. By applying this approach to a one day query log of PubMed, we found that a significant proportion of information needs involved more than one PubMed query, and that most of the consecutive queries for the same information need are lexically related. Finally, the proposed PubMed distance is shown to be an accurate and meaningful measure for determining the contextual similarity between biological terms. The integrated approach can play a critical role in handling real-world PubMed query log data as is demonstrated in our experiments.

  7. Comparison of cognitive and neuropsychiatric profiles in hospitalised elderly medical patients with delirium, dementia and comorbid delirium–dementia

    Science.gov (United States)

    Leonard, Maeve; McInerney, Shane; McFarland, John; Condon, Candice; Awan, Fahad; O'Connor, Margaret; Reynolds, Paul; Meaney, Anna Maria; Adamis, Dimitrios; Dunne, Colum; Cullen, Walter; Trzepacz, Paula T; Meagher, David J

    2016-01-01

    Objectives Differentiation of delirium and dementia is a key diagnostic challenge but there has been limited study of features that distinguish these conditions. We examined neuropsychiatric and neuropsychological symptoms in elderly medical inpatients to identify features that distinguish major neurocognitive disorders. Setting University teaching hospital in Ireland. Participants and measures 176 consecutive elderly medical inpatients (mean age 80.6±7.0 years (range 60–96); 85 males (48%)) referred to a psychiatry for later life consultation-liaison service with Diagnostic and Statistical Manual of Mental Disorders (DSM) IV delirium, dementia, comorbid delirium–dementia and cognitively intact controls. Participants were assessed cross-sectionally with comparison of scores (including individual items) for the Revised Delirium Rating Scale (DRS-R98), Cognitive Test for Delirium (CTD) and Neuropsychiatric Inventory (NPI-Q). Results The frequency of neurocognitive diagnoses was delirium (n=50), dementia (n=32), comorbid delirium–dementia (n=62) and cognitively intact patients (n=32). Both delirium and comorbid delirium–dementia groups scored higher than the dementia group for DRS-R98 and CTD total scores, but all three neurocognitively impaired groups scored similarly in respect of total NPI-Q scores. For individual DRS-R98 items, delirium groups were distinguished from dementia groups by a range of non-cognitive symptoms, but only for impaired attention of the cognitive items. For the CTD, attention (p=0.002) and vigilance (p=0.01) distinguished between delirium and dementia. No individual CTD item distinguished between comorbid delirium–dementia and delirium. For the NPI-Q, there were no differences between the three neurocognitively impaired groups for any individual item severity. Conclusions The neurocognitive profile of delirium is similar with or without comorbid dementia and differs from dementia without delirium. Simple tests of attention and

  8. A functional portrait of Med7 and the mediator complex in Candida albicans.

    Science.gov (United States)

    Tebbji, Faiza; Chen, Yaolin; Richard Albert, Julien; Gunsalus, Kearney T W; Kumamoto, Carol A; Nantel, André; Sellam, Adnane; Whiteway, Malcolm

    2014-11-01

    Mediator is a multi-subunit protein complex that regulates gene expression in eukaryotes by integrating physiological and developmental signals and transmitting them to the general RNA polymerase II machinery. We examined, in the fungal pathogen Candida albicans, a set of conditional alleles of genes encoding Mediator subunits of the head, middle, and tail modules that were found to be essential in the related ascomycete Saccharomyces cerevisiae. Intriguingly, while the Med4, 8, 10, 11, 14, 17, 21 and 22 subunits were essential in both fungi, the structurally highly conserved Med7 subunit was apparently non-essential in C. albicans. While loss of CaMed7 did not lead to loss of viability under normal growth conditions, it dramatically influenced the pathogen's ability to grow in different carbon sources, to form hyphae and biofilms, and to colonize the gastrointestinal tracts of mice. We used epitope tagging and location profiling of the Med7 subunit to examine the distribution of the DNA sites bound by Mediator during growth in either the yeast or the hyphal form, two distinct morphologies characterized by different transcription profiles. We observed a core set of 200 genes bound by Med7 under both conditions; this core set is expanded moderately during yeast growth, but is expanded considerably during hyphal growth, supporting the idea that Mediator binding correlates with changes in transcriptional activity and that this binding is condition specific. Med7 bound not only in the promoter regions of active genes but also within coding regions and at the 3' ends of genes. By combining genome-wide location profiling, expression analyses and phenotyping, we have identified different Med7p-influenced regulons including genes related to glycolysis and the Filamentous Growth Regulator family. In the absence of Med7, the ribosomal regulon is de-repressed, suggesting Med7 is involved in central aspects of growth control.

  9. Health informatics research in Australia: retrospective analysis using PubMed

    Directory of Open Access Journals (Sweden)

    Kumara Mendis

    2007-01-01

    Discussion Australian HI publications in PubMed increased consistently throughout the period 1970-2005, which is on a par with world trends in HI publications. In Australia, most HI publications are in general medical journals. Lack of consistency in author names and failure to include the country name and even the state are the main obstacles to PubMed bibliometric analysis.

  10. Murværk opmuret med vådmørtler

    DEFF Research Database (Denmark)

    Hansen, Klavs Feilberg

    Vådmørtler benyttes i størstedelen af det murede nybyggeri. Egenskaberne af murværk opmuret med vådmørtel er i dag kun mangelfuldt dokumenteret. Denne rapport beskriver en metode til bedre dokumentation af de styrkemæssige egenskaber ved murværk opmuret med vådmørtel. Første del af rapporten genn...

  11. Kvalitative Interviews med D&I Censorer, Undervisere, Kandidater og Studerende

    DEFF Research Database (Denmark)

    Brodersen, Søsser; Lindegaard, Hanne

    2010-01-01

    Som en opfølgning på telefon surveys blev der i tredje fase af D&I evalueringen gennemført en række kvalitative interviews med udvalgte censorer, undervisere, kandidater og studerende. Formålet med de kvalitative interviews har været at undersøge om: - D&I studerende og kandidater gennem forløbet i...

  12. Hvad stiller vi op med samfundsneurosen?

    DEFF Research Database (Denmark)

    Jensen, Niels Rosendal

    2008-01-01

    Pædagogisk og socialt arbejde er som aldrig før udsat for evaluering, accountability, akkreditering m.v.  Det fjerner opmærksomheden fra kerneopgaven, at de professionelles ydelser forbedres. Forhistorien opridses kort, og klummen afrundes med at pege på tre mulige veje ud af samfundsneurosen: et...

  13. Solar-assisted MED treatment of Eskom power station waste water

    Science.gov (United States)

    Roos, Thomas H.; Rogers, David E. C.; Gericke, Gerhard

    2017-06-01

    The comparative benefits of multi-effect distillation (MED) used in conjunction with Nano Filtration (NF), Reverse Osmosis (RO) and Eutectic Freeze Crystallization (EFC) are determined for waste water minimization for inland coal fired power stations for Zero Liquid Effluent Discharge (ZLED). A sequence of technologies is proposed to achieve maximal water recovery and brine concentration: NF - physico-chemical treatment - MED - EFC. The possibility of extending the concentration of RO reject arising from minewater treatment at the Lethabo power station with MED alone is evaluated with mineral formation modelling using the thermochemical modelling software Phreeq-C. It is shown that pretreatment is essential to extend the amount of water that can be recovered, and this can be beneficially supported by NF.

  14. Enabling multi-level relevance feedback on PubMed by integrating rank learning into DBMS.

    Science.gov (United States)

    Yu, Hwanjo; Kim, Taehoon; Oh, Jinoh; Ko, Ilhwan; Kim, Sungchul; Han, Wook-Shin

    2010-04-16

    Finding relevant articles from PubMed is challenging because it is hard to express the user's specific intention in the given query interface, and a keyword query typically retrieves a large number of results. Researchers have applied machine learning techniques to find relevant articles by ranking the articles according to the learned relevance function. However, the process of learning and ranking is usually done offline without integrated with the keyword queries, and the users have to provide a large amount of training documents to get a reasonable learning accuracy. This paper proposes a novel multi-level relevance feedback system for PubMed, called RefMed, which supports both ad-hoc keyword queries and a multi-level relevance feedback in real time on PubMed. RefMed supports a multi-level relevance feedback by using the RankSVM as the learning method, and thus it achieves higher accuracy with less feedback. RefMed "tightly" integrates the RankSVM into RDBMS to support both keyword queries and the multi-level relevance feedback in real time; the tight coupling of the RankSVM and DBMS substantially improves the processing time. An efficient parameter selection method for the RankSVM is also proposed, which tunes the RankSVM parameter without performing validation. Thereby, RefMed achieves a high learning accuracy in real time without performing a validation process. RefMed is accessible at http://dm.postech.ac.kr/refmed. RefMed is the first multi-level relevance feedback system for PubMed, which achieves a high accuracy with less feedback. It effectively learns an accurate relevance function from the user's feedback and efficiently processes the function to return relevant articles in real time.

  15. Cannabidiol: Pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders

    Science.gov (United States)

    Devinsky, Orrin; Cilio, Maria Roberta; Cross, Helen; Fernandez-Ruiz, Javier; French, Jacqueline; Hill, Charlotte; Katz, Russell; Di Marzo, Vincenzo; Jutras-Aswad, Didier; Notcutt, William George; Martinez-Orgado, Jose; Robson, Philip J.; Rohrback, Brian G.; Thiele, Elizabeth; Whalley, Benjamin; Friedman, Daniel

    2015-01-01

    Objective To present a summary of current scientific evidence about the cannabinoid, cannabidiol (CBD) with regards to their relevance to epilepsy and other selected neuropsychiatric disorders. Methods We summarize the presentations from a conference in which invited participants reviewed relevant aspects of the physiology, mechanisms of action, pharmacology and data from studies with animal models and human subjects. Results Cannabis has been used to treat disease since ancient times. Δ9-THC is the major psychoactive ingredient and cannabidiol (CBD) is the major non-psychoactive ingredient in cannabis. Cannabis and Δ9-THC are anticonvulsant in most animal models but can be proconvulsant in some healthy animals. Psychotropic effects of Δ9-THC limit tolerability. CBD is anticonvulsant in many acute animal models but there is limited data in chronic models. The antiepileptic mechanisms of CBD are not known, but may include effects on the equilibrative nucleoside transporter; the orphan G-protein-coupled receptor GPR55; the transient receptor potential of melastatin type 8 channel; the 5-HT1a receptor; the α3 and α1 glycine receptors; and the transient receptor potential of ankyrin type 1 channel. CBD has neuroprotective and anti-inflammatory effects. CBD appears to be well tolerated in humans but small and methodologically limited studies of CBD in human epilepsy have been inconclusive. More recent anecdotal reports of high-ratio CBD:Δ9-THC medical marijuana have claimed efficacy, but studies were not controlled. Significance CBD bears investigation in epilepsy and other neuropsychiatric disorders, including anxiety, schizophrenia, addiction and neonatal hypoxic-ischemic encephalopathy. However, we lack data from well-powered double-blind randomized, controlled studies on the efficacy of pure CBD for any disorder. Initial dose-tolerability and double-blind randomized, controlled studies focusing on target intractable epilepsy populations such as patients with

  16. Genetics of homocysteine metabolism and associated disorders

    Directory of Open Access Journals (Sweden)

    S. Brustolin

    2010-01-01

    Full Text Available Homocysteine is a sulfur-containing amino acid derived from the metabolism of methionine, an essential amino acid, and is metabolized by one of two pathways: remethylation or transsulfuration. Abnormalities of these pathways lead to hyperhomocysteinemia. Hyperhomocysteinemia is observed in approximately 5% of the general population and is associated with an increased risk for many disorders, including vascular and neurodegenerative diseases, autoimmune disorders, birth defects, diabetes, renal disease, osteoporosis, neuropsychiatric disorders, and cancer. We review here the correlation between homocysteine metabolism and the disorders described above with genetic variants on genes coding for enzymes of homocysteine metabolism relevant to clinical practice, especially common variants of the MTHFR gene, 677C>T and 1298A>C. We also discuss the management of hyperhomocysteinemia with folic acid supplementation and fortification of folic acid and the impact of a decrease in the prevalence of congenital anomalies and a decline in the incidence of stroke mortality.

  17. PubMedPortable: A Framework for Supporting the Development of Text Mining Applications.

    Science.gov (United States)

    Döring, Kersten; Grüning, Björn A; Telukunta, Kiran K; Thomas, Philippe; Günther, Stefan

    2016-01-01

    Information extraction from biomedical literature is continuously growing in scope and importance. Many tools exist that perform named entity recognition, e.g. of proteins, chemical compounds, and diseases. Furthermore, several approaches deal with the extraction of relations between identified entities. The BioCreative community supports these developments with yearly open challenges, which led to a standardised XML text annotation format called BioC. PubMed provides access to the largest open biomedical literature repository, but there is no unified way of connecting its data to natural language processing tools. Therefore, an appropriate data environment is needed as a basis to combine different software solutions and to develop customised text mining applications. PubMedPortable builds a relational database and a full text index on PubMed citations. It can be applied either to the complete PubMed data set or an arbitrary subset of downloaded PubMed XML files. The software provides the infrastructure to combine stand-alone applications by exporting different data formats, e.g. BioC. The presented workflows show how to use PubMedPortable to retrieve, store, and analyse a disease-specific data set. The provided use cases are well documented in the PubMedPortable wiki. The open-source software library is small, easy to use, and scalable to the user's system requirements. It is freely available for Linux on the web at https://github.com/KerstenDoering/PubMedPortable and for other operating systems as a virtual container. The approach was tested extensively and applied successfully in several projects.

  18. AliBaba: PubMed as a graph.

    Science.gov (United States)

    Plake, Conrad; Schiemann, Torsten; Pankalla, Marcus; Hakenberg, Jörg; Leser, Ulf

    2006-10-01

    The biomedical literature contains a wealth of information on associations between many different types of objects, such as protein-protein interactions, gene-disease associations and subcellular locations of proteins. When searching such information using conventional search engines, e.g. PubMed, users see the data only one-abstract at a time and 'hidden' in natural language text. AliBaba is an interactive tool for graphical summarization of search results. It parses the set of abstracts that fit a PubMed query and presents extracted information on biomedical objects and their relationships as a graphical network. AliBaba extracts associations between cells, diseases, drugs, proteins, species and tissues. Several filter options allow for a more focused search. Thus, researchers can grasp complex networks described in various articles at a glance. http://alibaba.informatik.hu-berlin.de/

  19. Validation of search filters for identifying pediatric studies in PubMed

    NARCIS (Netherlands)

    Leclercq, Edith; Leeflang, Mariska M. G.; van Dalen, Elvira C.; Kremer, Leontien C. M.

    2013-01-01

    To identify and validate PubMed search filters for retrieving studies including children and to develop a new pediatric search filter for PubMed. We developed 2 different datasets of studies to evaluate the performance of the identified pediatric search filters, expressed in terms of sensitivity,

  20. Genetic influences on phase synchrony of brain oscillations supporting response inhibition.

    Science.gov (United States)

    Müller, Viktor; Anokhin, Andrey P; Lindenberger, Ulman

    2017-05-01

    Phase synchronization of neuronal oscillations is a fundamental mechanism underlying cognitive processing and behavior, including context-dependent response production and inhibition. Abnormalities in neural synchrony can lead to abnormal information processing and contribute to cognitive and behavioral deficits in neuropsychiatric disorders. However, little is known about genetic and environmental contributions to individual differences in cortical oscillatory dynamics underlying response inhibition. This study examined heritability of event-related phase synchronization of brain oscillations in 302 young female twins including 94 MZ and 57 DZ pairs performing a cued Go/No-Go version of the Continuous Performance Test (CPT). We used the Phase Locking Index (PLI) to assess inter-trial phase clustering (synchrony) in several frequency bands in two time intervals after stimulus onset (0-300 and 301-600ms). Response inhibition (i.e., successful response suppression in No-Go trials) was characterized by a transient increase in phase synchronization of delta- and theta-band oscillations in the fronto-central midline region. Genetic analysis showed significant heritability of the phase locking measures related to response inhibition, with 30 to 49% of inter-individual variability being accounted for by genetic factors. This is the first study providing evidence for heritability of task-related neural synchrony. The present results suggest that PLI can serve as an indicator of genetically transmitted individual differences in neural substrates of response inhibition. Copyright © 2016 Elsevier B.V. All rights reserved.

  1. Trafikulykker med ældre bilister - litteraturundersøgelse

    DEFF Research Database (Denmark)

    Siren, Anu Kristiina

    Andelen af ældre mennesker er i disse år hastigt stigende i de industrialiserede lande, herunder i Danmark. Som følge heraf vokser antallet af ældre bilister, og nutidens ældre forbliver aktive og mobile langt op i årene. Da mobilitet er en vigtig del af dagligdagen, skal transportsystemet blandt...... antal ældre trafikanter vil medføre flere sikkerhedsmæssige problemer. Tværtimod ser det ud, som om sikkerheden generelt vil øges i takt med det voksende antal ældre trafikanter. Denne positive udvikling er dog ikke ensbetydende med, at der ikke fortsat skal fokuseres på ældrevenlige løsninger i...

  2. The association between physical dependency and the presence of neuropsychiatric symptoms, with the admission of people with dementia to a long-term care institution: a prospective observational cohort study.

    Science.gov (United States)

    Risco, Ester; Cabrera, Esther; Jolley, David; Stephan, Astrid; Karlsson, Staffan; Verbeek, Hilde; Saks, Kai; Hupli, Maija; Sourdet, Sandrine; Zabalegui, Adelaida

    2015-05-01

    Dementia is a progressive neurological disorder that causes a high degree of dependency. This dependency has been defined as an increased need for assistance due to deterioration in cognition and physical functioning, and changes in behavior. Highly dependent people with dementia are more likely to be institutionalized. To investigate the association between specific categories of physical dependency and the presence of neuropsychiatric symptoms in people with dementia admitted to a long-term care institution. A prospective observational cohort study. Home care and long-term care institutions in eight European countries. People with dementia living at home but at risk of institutionalization and recently institutionalized people with dementia. Baseline and 3-month follow-up interviews were performed between November, 2010 and April, 2012. The sample consisted of 116 recently institutionalized dementia sufferers and 949 people with dementia still living at home. Physical dependency was measured using the Katz Activity of Daily Living index, and neuropsychiatric symptoms were assessed through The Neuropsychiatric Inventory. Specific categories of dependency were analyzed by performing a logistic regression analysis. This followed examination of baseline characteristics to define the degree of physical dependency, as factors associated with institutionalization, and evaluation of the same characteristics at 3-month follow-up to detect changes in the degree of physical dependency and neuropsychiatric symptoms associated with recent admission to a long-term care institution. Toileting, dressing and continence dependency was higher in institutionalized people than in those receiving home-care. Delusion, hallucination, agitation, anxiety, apathy, motor-disturbances, night-time behavior and eating disorders were also worse in the institutionalized. Logistic regression analysis showed that independent factors significantly associated with being recently institutionalized

  3. Mars Science Laboratory (MSL) Entry, Descent, and Landing Instrumentation (MEDLI): Complete Flight Data Set

    Science.gov (United States)

    Cheatwood, F. McNeil; Bose, Deepak; Karlgaard, Christopher D.; Kuhl, Christopher A.; Santos, Jose A.; Wright, Michael J.

    2014-01-01

    The Mars Science Laboratory (MSL) entry vehicle (EV) successfully entered the Mars atmosphere and landed the Curiosity rover safely on the surface of the planet in Gale crater on August 6, 2012. MSL carried the MSL Entry, Descent, and Landing (EDL) Instrumentation (MEDLI). MEDLI delivered the first in-depth understanding of the Mars entry environments and the response of the entry vehicle to those environments. MEDLI was comprised of three major subsystems: the Mars Entry Atmospheric Data System (MEADS), the MEDLI Integrated Sensor Plugs (MISP), and the Sensor Support Electronics (SSE). Ultimately, the entire MEDLI sensor suite consisting of both MEADS and MISP provided measurements that were used for trajectory reconstruction and engineering validation of aerodynamic, atmospheric, and thermal protection system (TPS) models in addition to Earth-based systems testing procedures. This report contains in-depth hardware descriptions, performance evaluation, and data information of the three MEDLI subsystems.

  4. Application of 5-hydroxytryptamine receptor imaging for study of neuropsychiatric disorders and brain functions

    International Nuclear Information System (INIS)

    Qiu Chun; Guan Yihui

    2011-01-01

    In the central nervous system, the widely distributed 5-hydroxytryptamine (5-HT)receptors are involved in regulating a large number of psychological and physiological functions, including mood, sleep, endocrine and autonomic nervous system. Abnormal 5-HT transmission has been implicated in a variety of neuropsychiatric disorders, such as pain, depression and epilepsy. With the development of radioligands, non-invasive nuclear imaging technique with exquisite sensitivity and specificity has been applied for delineation of neurotransmitter function in vivo. It does great benefit for researches of these diseases and development of drugs. This review provided an overview of 5-HT receptors radioligands and recent findings. (authors)

  5. Mediator MED23 regulates basal transcription in vivo via an interaction with P-TEFb.

    Science.gov (United States)

    Wang, Wei; Yao, Xiao; Huang, Yan; Hu, Xiangming; Liu, Runzhong; Hou, Dongming; Chen, Ruichuan; Wang, Gang

    2013-01-01

    The Mediator is a multi-subunit complex that transduces regulatory information from transcription regulators to the RNA polymerase II apparatus. Growing evidence suggests that Mediator plays roles in multiple stages of eukaryotic transcription, including elongation. However, the detailed mechanism by which Mediator regulates elongation remains elusive. In this study, we demonstrate that Mediator MED23 subunit controls a basal level of transcription by recruiting elongation factor P-TEFb, via an interaction with its CDK9 subunit. The mRNA level of Egr1, a MED23-controlled model gene, is reduced 4-5 fold in Med23 (-/-) ES cells under an unstimulated condition, but Med23-deficiency does not alter the occupancies of RNAP II, GTFs, Mediator complex, or activator ELK1 at the Egr1 promoter. Instead, Med23 depletion results in a significant decrease in P-TEFb and RNAP II (Ser2P) binding at the coding region, but no changes for several other elongation regulators, such as DSIF and NELF. ChIP-seq revealed that Med23-deficiency partially reduced the P-TEFb occupancy at a set of MED23-regulated gene promoters. Further, we demonstrate that MED23 interacts with CDK9 in vivo and in vitro. Collectively, these results provide the mechanistic insight into how Mediator promotes RNAP II into transcription elongation.

  6. Strategies for the study of neuropsychiatric disorders using endophenotypes in developing countries: a potential databank from China

    Directory of Open Access Journals (Sweden)

    Raymond C Chan

    2010-10-01

    Full Text Available Endophenotypic research can be considered to be one of the most promising strategies to bridge the gap between genomic complexity and the phenotypic heterogeneity observed in neuropsychiatric disorders. However, despite the promising and systematic work initiated by our western counterparts, this research strategy is still not well known in developing countries. Thus, the purpose of this paper is to argue the merits and promise of a potentially useful database on phenotypes and endophenotypes for developing countries.

  7. The performances of standard and ResMed masks during bag-valve-mask ventilation.

    Science.gov (United States)

    Lee, Hyoung Youn; Jeung, Kyung Woon; Lee, Byung Kook; Lee, Seung Joon; Jung, Yong Hun; Lee, Geo Sung; Min, Yong Il; Heo, Tag

    2013-01-01

    A tight mask seal is frequently difficult to obtain and maintain during single-rescuer bag-valve-mask (BVM) ventilation. The ResMed mask (Bella Vista, NSW, Australia) is a continuous-positive-airway-pressure mask (CM) designed for noninvasive ventilation. In this study, we compared the ventilation performances of a standard mask (SM) and a ResMed CM using a simulation manikin in an out-of-hospital single-rescuer BVM ventilation scenario. Thirty emergency medical technicians (EMTs) performed two 2-minute attempts to ventilate a simulation manikin using BVM ventilation, alternatively, with the SM or the ResMed CM in a randomized order. Ventilation parameters including tidal volume and peak airway pressure were measured using computer analysis software connected to the simulation manikin. Successful volume delivery was defined as delivery of 440-540 mL of tidal volume in accord with present cardiopulmonary resuscitation guidelines. BVM ventilation using the ResMed CM produced higher mean (± standard deviation) tidal volumes (452 ± 50 mL vs. 394 ± 113 mL, p = 0.014) and had a higher proportion of successful volume deliveries (65.3% vs. 26.7%, p < 0.001) than that using the SM. Peak airway pressure was higher in BVM ventilation using the ResMed CM (p = 0.035). Stomach insufflation did not occur during either method. Twenty-nine of the participants (96.7%) preferred BVM ventilation using the ResMed CM. BVM ventilations using ResMed CM resulted in a significantly higher proportion of successful volume deliveries meeting the currently recommended range of tidal volume. Clinical studies are needed to determine the value of the ResMed CM for BVM ventilation.

  8. Indsats for forældre til børn med ADHD

    DEFF Research Database (Denmark)

    Neubert, Katja

    2012-01-01

    Et nyt review, udarbejdet af forskergruppen omkring Morris Zwi, undersøger om interventionsprogrammer til forældre til børn med ADHD er effektive, når det gælder reducering af børnenes ADHD-relaterede adfærd og associerede problemer som eksempelvis indlæringsproblemer. Reviewet peger på, at en...... indsats til forældre til børn med ADHD kan have en gavnlig effekt på børnenes adfærd. Interventionen kan også være med til at sænke stressniveauet hos forældre til disse børn, og forbedre forældrenes selvtillid....

  9. CDAPubMed: a browser extension to retrieve EHR-based biomedical literature

    Directory of Open Access Journals (Sweden)

    Perez-Rey David

    2012-04-01

    Full Text Available Abstract Background Over the last few decades, the ever-increasing output of scientific publications has led to new challenges to keep up to date with the literature. In the biomedical area, this growth has introduced new requirements for professionals, e.g., physicians, who have to locate the exact papers that they need for their clinical and research work amongst a huge number of publications. Against this backdrop, novel information retrieval methods are even more necessary. While web search engines are widespread in many areas, facilitating access to all kinds of information, additional tools are required to automatically link information retrieved from these engines to specific biomedical applications. In the case of clinical environments, this also means considering aspects such as patient data security and confidentiality or structured contents, e.g., electronic health records (EHRs. In this scenario, we have developed a new tool to facilitate query building to retrieve scientific literature related to EHRs. Results We have developed CDAPubMed, an open-source web browser extension to integrate EHR features in biomedical literature retrieval approaches. Clinical users can use CDAPubMed to: (i load patient clinical documents, i.e., EHRs based on the Health Level 7-Clinical Document Architecture Standard (HL7-CDA, (ii identify relevant terms for scientific literature search in these documents, i.e., Medical Subject Headings (MeSH, automatically driven by the CDAPubMed configuration, which advanced users can optimize to adapt to each specific situation, and (iii generate and launch literature search queries to a major search engine, i.e., PubMed, to retrieve citations related to the EHR under examination. Conclusions CDAPubMed is a platform-independent tool designed to facilitate literature searching using keywords contained in specific EHRs. CDAPubMed is visually integrated, as an extension of a widespread web browser, within the standard

  10. LitVar: a semantic search engine for linking genomic variant data in PubMed and PMC.

    Science.gov (United States)

    Allot, Alexis; Peng, Yifan; Wei, Chih-Hsuan; Lee, Kyubum; Phan, Lon; Lu, Zhiyong

    2018-05-14

    The identification and interpretation of genomic variants play a key role in the diagnosis of genetic diseases and related research. These tasks increasingly rely on accessing relevant manually curated information from domain databases (e.g. SwissProt or ClinVar). However, due to the sheer volume of medical literature and high cost of expert curation, curated variant information in existing databases are often incomplete and out-of-date. In addition, the same genetic variant can be mentioned in publications with various names (e.g. 'A146T' versus 'c.436G>A' versus 'rs121913527'). A search in PubMed using only one name usually cannot retrieve all relevant articles for the variant of interest. Hence, to help scientists, healthcare professionals, and database curators find the most up-to-date published variant research, we have developed LitVar for the search and retrieval of standardized variant information. In addition, LitVar uses advanced text mining techniques to compute and extract relationships between variants and other associated entities such as diseases and chemicals/drugs. LitVar is publicly available at https://www.ncbi.nlm.nih.gov/CBBresearch/Lu/Demo/LitVar.

  11. Reasons for psychiatric consultation referrals in Dutch nursing home patients with dementia: a comparison with normative data on prevalence of neuropsychiatric symptoms.

    NARCIS (Netherlands)

    Kat, M.G.; Zuidema, S.U.; Ploeg, T. van der; Kalisvaart, K.J.; Gool, W.A. van; Eikelenboom, P.; Jonghe, J.F. de

    2008-01-01

    OBJECTIVE: To study psychiatric consultation referrals of nursing home patients with dementia and to compare referral reasons with normative data on prevalence of neuropsychiatric symptoms. METHODS: This is part of a cross-sectional study of 787 patients residing in 14 nursing homes in the

  12. Reasons for psychiatric consultation referrals in Dutch nursing home patients with dementia: a comparison with normative data on prevalence of neuropsychiatric symptoms

    NARCIS (Netherlands)

    Kat, Martin G.; Zuidema, Sytse U.; van der Ploeg, Tjeerd; Kalisvaart, Kees J.; van Gool, Willem A.; Eikelenboom, Piet; de Jonghe, Jos F. M.

    2008-01-01

    Objective To study psychiatric consultation referrals of nursing home patients with dementia and to compare referral reasons with normative data on prevalence of neuropsychiatric symptoms. Methods This is part of a cross-sectional study of 787 patients residing in 14 nursing homes in the

  13. Reasons for psychiatric consultation referrals in Dutch nursing home patients with dementia: a comparison with normative data on prevalence of neuropsychiatric symptoms

    NARCIS (Netherlands)

    Kat, M.G.; Zuidema, S.U.; van der Ploeg, T.; Kalisvaart, K.J.; van Gool, W.A.; Eikelenboom, P.; de Jonghe, J.F.M.

    2008-01-01

    Objective: To study psychiatric consultation referrals of nursing home patients with dementia and to compare referral reasons with normative data on prevalence of neuropsychiatric symptoms. Methods: This is part of a cross-sectional study of 787 patients residing in 14 nursing homes in the

  14. Observing floods from space: Experience gained from COSMO-SkyMed observations

    Science.gov (United States)

    Pierdicca, N.; Pulvirenti, L.; Chini, M.; Guerriero, L.; Candela, L.

    2013-03-01

    The COSMO-SkyMed mission offers a unique opportunity to obtain all weather radar images characterized by short revisit time, thus being useful for flood evolution mapping. The COSMO-SkyMed system has been activated several times in the last few years in occasion of flood events all over the world in order to provide very high resolution X-band SAR images useful for flood detection purposes. This paper discusses the major outcomes of the experience gained, within the framework of the OPERA Pilot Project funded by the Italian Space Agency, from using COSMO-SkyMed data for the purpose of near real time generation of flood maps. A review of the mechanisms which determine the imprints of the inundation on the radar images and of the fundamental simulation tools able to predict these imprints and help image interpretation is provided. The approach developed to process the data and to generate the flood maps is also summarized. Then, the paper illustrates the experience gained with COSMO-SkyMed by describing and discussing a number of significant examples. These examples demonstrate the potential of the COSMO-SkyMed system and the suitability of the approach developed for generating the final products, but they also highlight some critical aspects that require further investigations to improve the reliability of the flood maps.

  15. Børn med ADHD skaber øget konflikt om morgenen

    DEFF Research Database (Denmark)

    Lange, Anne-Mette

    2017-01-01

    Dækning af ny forskning fra videnskabelige præsentationer på den femte Internationale ADHD Congress i Vancouver, 2017. http://propatienter.dk/sygdomme/psyken/280-born-med-adhd-skaber-oget-konflikt-om-morgenen.html......Dækning af ny forskning fra videnskabelige præsentationer på den femte Internationale ADHD Congress i Vancouver, 2017. http://propatienter.dk/sygdomme/psyken/280-born-med-adhd-skaber-oget-konflikt-om-morgenen.html...

  16. The medical dictionary for regulatory activities (MedDRA).

    Science.gov (United States)

    Brown, E G; Wood, L; Wood, S

    1999-02-01

    The International Conference on Harmonisation has agreed upon the structure and content of the Medical Dictionary for Regulatory Activities (MedDRA) version 2.0 which should become available in the early part of 1999. This medical terminology is intended for use in the pre- and postmarketing phases of the medicines regulatory process, covering diagnoses, symptoms and signs, adverse drug reactions and therapeutic indications, the names and qualitative results of investigations, surgical and medical procedures, and medical/social history. It can be used for recording adverse events and medical history in clinical trials, in the analysis and tabulations of data from these trials and in the expedited submission of safety data to government regulatory authorities, as well as in constructing standard product information and documentation for applications for marketing authorisation. After licensing of a medicine, it may be used in pharmacovigilance and is expected to be the preferred terminology for international electronic regulatory communication. MedDRA is a hierarchical terminology with 5 levels and is multiaxial: terms may exist in more than 1 vertical axis, providing specificity of terms for data entry and flexibility in data retrieval. Terms in MedDRA were derived from several sources including the WHO's adverse reaction terminology (WHO-ART), Coding Symbols for a Thesaurus of Adverse Reaction Terms (COSTART), International Classification of Diseases (ICD) 9 and ICD9-CM. It will be maintained, further developed and distributed by a Maintenance Support Services Organisation (MSSO). It is anticipated that using MedDRA will improve the quality of data captured on databases, support effective analysis by providing clinically relevant groupings of terms and facilitate electronic communication of data, although as a new tool, users will need to invest time in gaining expertise in its use.

  17. Application of gamma-aminobutyric acid type A-benzodiazepine receptor imaging for study of neuropsychiatric disorders

    International Nuclear Information System (INIS)

    Bao Weiqi; Qiu Chun; Guan Yihui

    2012-01-01

    Gamma-aminobutyric acid type A-benzodiazepine receptors are heterogeneous polypeptide pentamers widely spread in the central nervous system on the neuron membrane. Different subunit combinations educe various neuro-inhibitory pharmacological effects such as sedative, hypnosis, anticonvulsion and anxiolysis. PET can be utilized to study the binding of the receptors in vivo. PET radioligands of gamma-aminobutyric acid type A-benzodiazepine receptors can be classified into 3 types: antagonists,agonists and reverse agonists, of which antagonist radiotracer 11 C-flumazenil is the most commonly applied in epilepsy, anxiety disorders, depression, vegetative state,addiction and other neuro-psychiatric disorders. (authors)

  18. Assignment of the 5HT7 receptor gene (HTR7) to chromosome 10q and exclusion of genetic linkage with Tourette syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Gelernter, J.; Rao, P.A.; Pauls, D.L. [Yale Univ. School of Medicine, West Haven, CT (United States)] [and others

    1995-03-20

    A novel serotonin receptor designated 5HT7 (genetic locus HTR7) was cloned in 1993. This receptor has interesting properties related to ligand affinity and CNS distribution that render HTR7 a very interesting candidate gene for neuropsychiatric disorders. We mapped this gene, first by physical methods and then by genetic linkage. First, we made a tentative assignment to chromosome 10, based on hybridization of an HTR7 probe to a Southern blot of DNA from somatic cell hybrids. We then identified a genetic polymorphism at the HTR7 locus. We identified one extended pedigree where the polymorphism segregated. Using the LEPED computer program for pairwise linkage analysis, we confirmed the assignment of the gene to chromosome 10, specifically 10q21-q24, based on a lod score of 5.37 at 0% recombination between HTR7 and D10S20 (a chromosome 10 reference marker). Finally, we excluded genetic linkage between this locus and Tourette syndrome under a reasonable set of assumptions. 15 refs., 1 fig., 1 tab.

  19. Retrieving clinical evidence: a comparison of PubMed and Google Scholar for quick clinical searches.

    Science.gov (United States)

    Shariff, Salimah Z; Bejaimal, Shayna Ad; Sontrop, Jessica M; Iansavichus, Arthur V; Haynes, R Brian; Weir, Matthew A; Garg, Amit X

    2013-08-15

    Physicians frequently search PubMed for information to guide patient care. More recently, Google Scholar has gained popularity as another freely accessible bibliographic database. To compare the performance of searches in PubMed and Google Scholar. We surveyed nephrologists (kidney specialists) and provided each with a unique clinical question derived from 100 renal therapy systematic reviews. Each physician provided the search terms they would type into a bibliographic database to locate evidence to answer the clinical question. We executed each of these searches in PubMed and Google Scholar and compared results for the first 40 records retrieved (equivalent to 2 default search pages in PubMed). We evaluated the recall (proportion of relevant articles found) and precision (ratio of relevant to nonrelevant articles) of the searches performed in PubMed and Google Scholar. Primary studies included in the systematic reviews served as the reference standard for relevant articles. We further documented whether relevant articles were available as free full-texts. Compared with PubMed, the average search in Google Scholar retrieved twice as many relevant articles (PubMed: 11%; Google Scholar: 22%; PGoogle Scholar: 8%; P=.07). Google Scholar provided significantly greater access to free full-text publications (PubMed: 5%; Google Scholar: 14%; PGoogle Scholar returns twice as many relevant articles as PubMed and provides greater access to free full-text articles.

  20. A Neuropsychiatric Analysis of the Cotard Delusion.

    Science.gov (United States)

    Sahoo, Aradhana; Josephs, Keith A

    2018-01-01

    Cotard's syndrome, a condition in which the patient denies his or her own existence or the existence of body parts, is a rare illness that has been reported in association with several neuropsychiatric diagnoses. The majority of published literature on the topic is in the form of case reports, many of which are several years old. The authors evaluated associated diagnoses, neuroimaging, and treatments recorded in patients diagnosed with Cotard's syndrome at their institution. A search of the Mayo Clinic database for patients with mention of signs and symptoms associated with Cotard's in their records between 1996 and 2016 was conducted. The electronic medical records of the identified patients were then reviewed for evidence of a true diagnosis of Cotard's. Clinical and neuroimaging data were also recorded for these patients. The search identified 18 patients, 14 of whom had Cotard delusions. Two of the 14 were excluded due to them being under age 18. The resulting 12 patients had a median age of 52 years (range: 30-85 years). On neuroimaging, four patients exhibited frontal lobe changes, four demonstrated generalized volume loss, and five had ischemic changes; seven patients demonstrated right-sided or bilateral hemisphere lesions. Treatments included ECT, pharmacotherapy, behavioral therapy, psychotherapy, rehydration, and removal of offending drugs. To conclude, Cotard delusions occur in the context of a relatively wide spectrum of neurological, psychiatric, and medical disorders and present with various neural changes. Nondominant hemisphere lesions may play a role in the pathophysiology. A number of effective treatments are available.