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Sample records for neurogenetic disorder characterized

  1. Sleep Disorders in Childhood Neurogenetic Disorders

    Directory of Open Access Journals (Sweden)

    Laura Beth Mann Dosier

    2017-09-01

    Full Text Available Genetic advances in the past three decades have transformed our understanding and treatment of many human diseases including neurogenetic disorders. Most neurogenetic disorders can be classified as “rare disease,” but collectively neurogenetic disorders are not rare and are commonly encountered in general pediatric practice. The authors decided to select eight relatively well-known neurogenetic disorders including Down syndrome, Angelman syndrome, Prader–Willi syndrome, Smith–Magenis syndrome, congenital central hypoventilation syndrome, achondroplasia, mucopolysaccharidoses, and Duchenne muscular dystrophy. Each disorder is presented in the following format: overview, clinical characteristics, developmental aspects, associated sleep disorders, management and research/future directions.

  2. Ethical issues in neurogenetic disorders.

    Science.gov (United States)

    Kang, Peter B

    2013-01-01

    The field of neurogenetics is moving so rapidly that new discoveries are announced almost weekly. The tools available for the diagnosis of neurogenetic disorders have become powerful and complex, and raise new ethical dilemmas that did not exist just a few years ago. In addition to previous concerns about presymptomatic genetic testing and carrier testing, the widening availability of next-generation sequencing raises concerns about the reporting of incidental findings of unclear significance. Genetically targeted therapies have now been proven to be efficacious for a few neurogenetic diseases, and it is likely that gene therapies and cell-based therapies will soon be applied to other neurologic disorders. These therapies are generally quite expensive compared to other treatments. Given the cost constraints that will be needed in the healthcare system in the United States and other countries, and the likelihood that new genetically targeted therapies will be introduced, society will face difficult questions regarding its obligations to fund expensive therapies both for large populations and for small numbers of patients with rare diseases. Potential conflicts of interest involving both individuals and institutions will need ongoing vigilance. Scientific advances will continue to raise consequential ethical questions in the field of neurogenetics. © 2013 Elsevier B.V. All rights reserved.

  3. Clinical neurogenetics: autism spectrum disorders.

    Science.gov (United States)

    Mehta, Sunil Q; Golshani, Peyman

    2013-11-01

    Autism spectrum disorders are neurodevelopmental disorders characterized by deficits in social interactions, communication, and repetitive or restricted interests. There is strong evidence that de novo or inherited genetic alterations play a critical role in causing Autism Spectrum Disorders, but non-genetic causes, such as in utero infections, may also play a role. Magnetic resonance imaging based and autopsy studies indicate that early rapid increase in brain size during infancy could underlie the deficits in a large subset of subjects. Clinical studies show benefits for both behavioral and pharmacological treatment strategies. Genotype-specific treatments have the potential for improving outcome in the future. Published by Elsevier Inc.

  4. Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders

    Directory of Open Access Journals (Sweden)

    Nora Urraca

    2015-11-01

    Full Text Available A major challenge to the study and treatment of neurogenetic syndromes is accessing live neurons for study from affected individuals. Although several sources of stem cells are currently available, acquiring these involve invasive procedures, may be difficult or expensive to generate and are limited in number. Dental pulp stem cells (DPSCs are multipotent stem cells that reside deep the pulp of shed teeth. To investigate the characteristics of DPSCs that make them a valuable resource for translational research, we performed a set of viability, senescence, immortalization and gene expression studies on control DPSC and derived neurons. We investigated the basic transport conditions and maximum passage number for primary DPSCs. We immortalized control DPSCs using human telomerase reverse transcriptase (hTERT and evaluated neuronal differentiation potential and global gene expression changes by RNA-seq. We show that neurons from immortalized DPSCs share morphological and electrophysiological properties with non-immortalized DPSCs. We also show that differentiation of DPSCs into neurons significantly alters gene expression for 1305 transcripts. Here we show that these changes in gene expression are concurrent with changes in protein levels of the transcriptional repressor REST/NRSF, which is known to be involved in neuronal differentiation. Immortalization significantly altered the expression of 183 genes after neuronal differentiation, 94 of which also changed during differentiation. Our studies indicate that viable DPSCs can be obtained from teeth stored for ≥72 h, these can then be immortalized and still produce functional neurons for in vitro studies, but that constitutive hTERT immortalization is not be the best approach for long term use of patient derived DPSCs for the study of disease.

  5. Characterization of neurons from immortalized dental pulp stem cells for the study of neurogenetic disorders.

    Science.gov (United States)

    Urraca, Nora; Memon, Rawaha; El-Iyachi, Ikbale; Goorha, Sarita; Valdez, Colleen; Tran, Quynh T; Scroggs, Reese; Miranda-Carboni, Gustavo A; Donaldson, Martin; Bridges, Dave; Reiter, Lawrence T

    2015-11-01

    A major challenge to the study and treatment of neurogenetic syndromes is accessing live neurons for study from affected individuals. Although several sources of stem cells are currently available, acquiring these involve invasive procedures, may be difficult or expensive to generate and are limited in number. Dental pulp stem cells (DPSCs) are multipotent stem cells that reside deep the pulp of shed teeth. To investigate the characteristics of DPSCs that make them a valuable resource for translational research, we performed a set of viability, senescence, immortalization and gene expression studies on control DPSC and derived neurons. We investigated the basic transport conditions and maximum passage number for primary DPSCs. We immortalized control DPSCs using human telomerase reverse transcriptase (hTERT) and evaluated neuronal differentiation potential and global gene expression changes by RNA-seq. We show that neurons from immortalized DPSCs share morphological and electrophysiological properties with non-immortalized DPSCs. We also show that differentiation of DPSCs into neurons significantly alters gene expression for 1305 transcripts. Here we show that these changes in gene expression are concurrent with changes in protein levels of the transcriptional repressor REST/NRSF, which is known to be involved in neuronal differentiation. Immortalization significantly altered the expression of 183 genes after neuronal differentiation, 94 of which also changed during differentiation. Our studies indicate that viable DPSCs can be obtained from teeth stored for ≥72 h, these can then be immortalized and still produce functional neurons for in vitro studies, but that constitutive hTERT immortalization is not be the best approach for long term use of patient derived DPSCs for the study of disease. Copyright © 2015 The Authors. Published by Elsevier B.V. All rights reserved.

  6. Clinical neurogenetics: neurologic presentations of metabolic disorders.

    Science.gov (United States)

    Kwon, Jennifer M; D'Aco, Kristin E

    2013-11-01

    This article reviews aspects of the neurologic presentations of selected treatable inborn errors of metabolism within the category of small molecule disorders caused by defects in pathways of intermediary metabolism. Disorders that are particularly likely to be seen by neurologists include those associated with defects in amino acid metabolism (organic acidemias, aminoacidopathies, urea cycle defects). Other disorders of small molecule metabolism are discussed as additional examples in which early treatments have the potential for better outcomes. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. The neurogenetics of atypical parkinsonian disorders.

    Science.gov (United States)

    Fogel, Brent L; Clark, Mary C; Geschwind, Daniel H

    2014-04-01

    Although classic Parkinson disease is the disorder most commonly associated with the clinical feature of parkinsonism, there is in fact a broader spectrum of disease represented by a collection of phenotypically similar neurodegenerative conditions that mimic many of its core features. These atypical parkinsonian disorders most commonly include progressive supranuclear palsy and corticobasal degeneration, disorders both associated with frontotemporal dementia, as well as multiple system atrophy and dementia with Lewy bodies. Although the clinical distinction of these disorders still remains a challenge to physicians, recent advances in genetics are poised to tease apart the differences. Insights into the molecular etiologies underlying these conditions will improve diagnosis, yield a better understanding of the underlying disease pathology, and ultimately lend stimulation to the development of potential treatments. At the same time, the wide range of phenotypes observed from mutations in a single gene warrants broad testing facilitated by advances in DNA sequencing. These expanding genomic approaches, ranging from the use of next-generation sequencing to identify causative or risk-associated gene variations to the study of epigenetic modification linking human genetics to environmental factors, are poised to lead the field into a new age of discovery. Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

  8. Clinical neurogenetics: neuropathic lysosomal storage disorders.

    Science.gov (United States)

    Pastores, Gregory M; Maegawa, Gustavo H B

    2013-11-01

    The lysosomal storage disorders are a clinically heterogeneous group of inborn errors of metabolism, associated with the accumulation of incompletely degraded macromolecules within several cellular sites. Affected individuals present with a broad range of clinical problems, including hepatosplenomegaly and skeletal dysplasia. Onset of symptoms may range from birth to adulthood. Most are associated with neurologic features. Later-onset forms are often misdiagnosed as symptoms, which might include psychiatric manifestations, are slowly progressive, and may precede other neurologic or systemic features. Symptomatic care, which remains the mainstay for most subtypes, can lead to significant improvement in quality of life. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Neurogenetics in Peru: clinical, scientific and ethical perspectives.

    Science.gov (United States)

    Cornejo-Olivas, Mario; Espinoza-Huertas, Keren; Velit-Salazar, Mario R; Veliz-Otani, Diego; Tirado-Hurtado, Indira; Inca-Martinez, Miguel; Silva-Paredes, Gustavo; Milla-Neyra, Karina; Marca, Victoria; Ortega, Olimpio; Mazzetti, Pilar

    2015-07-01

    Neurogenetics, the science that studies the genetic basis of the development and function of the nervous system, is a discipline of recent development in Peru, an emerging Latin American country. Herein, we review the clinical, scientific and ethical aspects regarding the development of this discipline, starting with the first molecular diagnosis of neurogenetic diseases, to family and population-based genetic association studies. Neurogenetics in Peru aims to better explain the epidemiology of monogenic and complex neurodegenerative disorders that will help in implementing public health policies for these disorders. The characterization of Peru and its health system, legal issues regarding rare diseases and the historical milestones in neurogenetics are also discussed.

  10. Zebrafish models for the functional genomics of neurogenetic disorders.

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    Kabashi, Edor; Brustein, Edna; Champagne, Nathalie; Drapeau, Pierre

    2011-03-01

    In this review, we consider recent work using zebrafish to validate and study the functional consequences of mutations of human genes implicated in a broad range of degenerative and developmental disorders of the brain and spinal cord. Also we present technical considerations for those wishing to study their own genes of interest by taking advantage of this easily manipulated and clinically relevant model organism. Zebrafish permit mutational analyses of genetic function (gain or loss of function) and the rapid validation of human variants as pathological mutations. In particular, neural degeneration can be characterized at genetic, cellular, functional, and behavioral levels. Zebrafish have been used to knock down or express mutations in zebrafish homologs of human genes and to directly express human genes bearing mutations related to neurodegenerative disorders such as spinal muscular atrophy, ataxia, hereditary spastic paraplegia, amyotrophic lateral sclerosis (ALS), epilepsy, Huntington's disease, Parkinson's disease, fronto-temporal dementia, and Alzheimer's disease. More recently, we have been using zebrafish to validate mutations of synaptic genes discovered by large-scale genomic approaches in developmental disorders such as autism, schizophrenia, and non-syndromic mental retardation. Advances in zebrafish genetics such as multigenic analyses and chemical genetics now offer a unique potential for disease research. Thus, zebrafish hold much promise for advancing the functional genomics of human diseases, the understanding of the genetics and cell biology of degenerative and developmental disorders, and the discovery of therapeutics. This article is part of a Special Issue entitled Zebrafish Models of Neurological Diseases. Copyright © 2010 Elsevier B.V. All rights reserved.

  11. EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.

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    Burgunder, J-M; Schöls, L; Baets, J; Andersen, P; Gasser, T; Szolnoki, Z; Fontaine, B; Van Broeckhoven, C; Di Donato, S; De Jonghe, P; Lynch, T; Mariotti, C; Spinazzola, A; Tabrizi, S J; Tallaksen, C; Zeviani, M; Harbo, H F; Finsterer, J

    2011-02-01

    These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated. To collect data about planning, conditions and performance of molecular diagnosis of these disorders, a literature search in various electronic databases was carried out and original papers, meta-analyses, review papers and guideline recommendations reviewed. The best level of evidence for genetic testing recommendation (B) can be found for the disorders with specific presentations, including familial amyotrophic lateral sclerosis, spinal and bulbar muscular atrophy, Charcot-Marie-Tooth 1A, myotonic dystrophy and Duchenne muscular dystrophy. For a number of less common disorders, a precise description of the phenotype, including the use of immunologic methods in the case of myopathies, is considered as good clinical practice to guide molecular genetic testing. These guidelines are provisional and the future availability of molecular-genetic epidemiological data about the neurogenetic disorders under discussion in this article will allow improved recommendation with an increased level of evidence. © 2010 The Author(s). European Journal of Neurology © 2010 EFNS.

  12. Dopaminergic Neurogenetics of Sleep Disorders in Reward Deficiency Syndrome (RDS).

    Science.gov (United States)

    Blum, Kenneth; Oscar-Berman, Marlene; Badgaiyan, Rajendra D; Khurshid, Khurshid A; Gold, Mark S

    2014-02-18

    It is well-known that sleep has a vital function especially as it relates to prevention of substance-related disorders as discussed in the DSM-V. We are cognizant that certain dopaminergic gene polymorphisms have been associated with various sleep disorders. The importance of "normal dopamine homeostasis" is tantamount for quality of life especially for the recovering addict. Since it is now know that sleep per se has been linked with metabolic clearance of neurotoxins in the brain, it is parsonomiuos to encourage continued research in sleep science, which should ultimately result in attenuation of sleep deprivation especially associated with substance related disorders.

  13. The Developmental Brain Disorders Database (DBDB): a curated neurogenetics knowledge base with clinical and research applications.

    Science.gov (United States)

    Mirzaa, Ghayda M; Millen, Kathleen J; Barkovich, A James; Dobyns, William B; Paciorkowski, Alex R

    2014-06-01

    The number of single genes associated with neurodevelopmental disorders has increased dramatically over the past decade. The identification of causative genes for these disorders is important to clinical outcome as it allows for accurate assessment of prognosis, genetic counseling, delineation of natural history, inclusion in clinical trials, and in some cases determines therapy. Clinicians face the challenge of correctly identifying neurodevelopmental phenotypes, recognizing syndromes, and prioritizing the best candidate genes for testing. However, there is no central repository of definitions for many phenotypes, leading to errors of diagnosis. Additionally, there is no system of levels of evidence linking genes to phenotypes, making it difficult for clinicians to know which genes are most strongly associated with a given condition. We have developed the Developmental Brain Disorders Database (DBDB: https://www.dbdb.urmc.rochester.edu/home), a publicly available, online-curated repository of genes, phenotypes, and syndromes associated with neurodevelopmental disorders. DBDB contains the first referenced ontology of developmental brain phenotypes, and uses a novel system of levels of evidence for gene-phenotype associations. It is intended to assist clinicians in arriving at the correct diagnosis, select the most appropriate genetic test for that phenotype, and improve the care of patients with developmental brain disorders. For researchers interested in the discovery of novel genes for developmental brain disorders, DBDB provides a well-curated source of important genes against which research sequencing results can be compared. Finally, DBDB allows novel observations about the landscape of the neurogenetics knowledge base. © 2014 Wiley Periodicals, Inc.

  14. Plasticity and mTOR: Towards Restoration of Impaired Synaptic Plasticity in mTOR-Related Neurogenetic Disorders

    Directory of Open Access Journals (Sweden)

    Tanjala T. Gipson

    2012-01-01

    Full Text Available Objective. To review the recent literature on the clinical features, genetic mutations, neurobiology associated with dysregulation of mTOR (mammalian target of rapamycin, and clinical trials for tuberous sclerosis complex (TSC, neurofibromatosis-1 (NF1 and fragile X syndrome (FXS, and phosphatase and tensin homolog hamartoma syndromes (PTHS, which are neurogenetic disorders associated with abnormalities in synaptic plasticity and mTOR signaling. Methods. Pubmed and Clinicaltrials.gov were searched using specific search strategies. Results/Conclusions. Although traditionally thought of as irreversible disorders, significant scientific progress has been made in both humans and preclinical models to understand how pathologic features of these neurogenetic disorders can be reduced or reversed. This paper revealed significant similarities among the conditions. Not only do they share features of impaired synaptic plasticity and dysregulation of mTOR, but they also share clinical features—autism, intellectual disability, cutaneous lesions, and tumors. Although scientific advances towards discovery of effective treatment in some disorders have outpaced others, progress in understanding the signaling pathways that connect the entire group indicates that the lesser known disorders will become treatable as well.

  15. EFNS guidelines for the molecular diagnosis of neurogenetic disorders: motoneuron, peripheral nerve and muscle disorders.

    LENUS (Irish Health Repository)

    Burgunder, J-M

    2011-02-01

    These EFNS guidelines on the molecular diagnosis of motoneuron disorders, neuropathies and myopathies are designed to summarize the possibilities and limitations of molecular genetic techniques and to provide diagnostic criteria for deciding when a molecular diagnostic work-up is indicated.

  16. Genotype-phenotype correlations in neurogenetics: Lesch-Nyhan disease as a model disorder.

    Science.gov (United States)

    Fu, Rong; Ceballos-Picot, Irene; Torres, Rosa J; Larovere, Laura E; Yamada, Yasukazu; Nguyen, Khue V; Hegde, Madhuri; Visser, Jasper E; Schretlen, David J; Nyhan, William L; Puig, Juan G; O'Neill, Patrick J; Jinnah, H A

    2014-05-01

    Establishing meaningful relationships between genetic variations and clinical disease is a fundamental goal for all human genetic disorders. However, these genotype-phenotype correlations remain incompletely characterized and sometimes conflicting for many diseases. Lesch-Nyhan disease is an X-linked recessive disorder that is caused by a wide variety of mutations in the HPRT1 gene. The gene encodes hypoxanthine-guanine phosphoribosyl transferase, an enzyme involved in purine metabolism. The fine structure of enzyme has been established by crystallography studies, and its function can be measured with very precise biochemical assays. This rich knowledge of genetic alterations in the gene and their functional effect on its protein product provides a powerful model for exploring factors that influence genotype-phenotype correlations. The present study summarizes 615 known genetic mutations, their influence on the gene product, and their relationship to the clinical phenotype. In general, the results are compatible with the concept that the overall severity of the disease depends on how mutations ultimately influence enzyme activity. However, careful evaluation of exceptions to this concept point to several additional genetic and non-genetic factors that influence genotype-phenotype correlations. These factors are not unique to Lesch-Nyhan disease, and are relevant to most other genetic diseases. The disease therefore serves as a valuable model for understanding the challenges associated with establishing genotype-phenotype correlations for other disorders.

  17. In the swim of things: recent insights to neurogenetic disorders from zebrafish.

    Science.gov (United States)

    Kabashi, Edor; Champagne, Nathalie; Brustein, Edna; Drapeau, Pierre

    2010-08-01

    The advantage of zebrafish as a model to study human pathologies lies in the ease of manipulating gene expression in vivo. Here we focus on recent progress in our understanding of motor neuron diseases and neurodevelopmental disorders and discuss how novel technologies will permit further disease models to be developed. Together these advances set the stage for this simple functional model, with particular advantages for transgenesis, multigenic analyses and chemical biology, to become uniquely suited for advancing the functional genomics of neurological and possibly psychiatric diseases - from understanding the genetics and cell biology of degenerative and developmental disorders to the discovery of therapeutics. Copyright 2010 Elsevier Ltd. All rights reserved.

  18. Computational neurogenetic modeling

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    Benuskova, Lubica

    2010-01-01

    Computational Neurogenetic Modeling is a student text, introducing the scope and problems of a new scientific discipline - Computational Neurogenetic Modeling (CNGM). CNGM is concerned with the study and development of dynamic neuronal models for modeling brain functions with respect to genes and dynamic interactions between genes. These include neural network models and their integration with gene network models. This new area brings together knowledge from various scientific disciplines, such as computer and information science, neuroscience and cognitive science, genetics and molecular biol

  19. Ethical issues in neurogenetics.

    Science.gov (United States)

    Uhlmann, Wendy R; Roberts, J Scott

    2018-01-01

    Many neurogenetic conditions are inherited and therefore diagnosis of a patient will have implications for the patient's relatives and can raise ethical issues. Predictive genetic testing offers asymptomatic relatives the opportunity to determine their risk status for a neurogenetic condition, and professional guidelines emphasize patients' autonomy and informed, voluntary decision making. Beneficence and nonmaleficence both need to be considered when making decisions about disclosure and nondisclosure of genetic information and test results. There can be disclosure concerns and challenges in determining whose autonomy to prioritize when a patient makes a genetic testing decision that can reveal the genetic status of a relative (e.g., testing an adult child when the at-risk parent has not been tested). Ethical issues are prominent when genetic testing for neurogenetic conditions is requested prenatally, on minors, adoptees, adult children at 25% risk, and for individuals with psychiatric issues or cognitive impairment. Neurogenetic conditions can result in cognitive decline which can affect decisional capacity and lead to ethical challenges with decision making, informed consent, and determining the patient's ability to comprehend test results. The ethical implications of genetic testing and emerging issues, including direct-to-consumer genetic testing, disclosure of secondary findings from genomic sequencing, and use of apolipoprotein E testing in clinical and research settings, are also discussed. Resources for information about genetic testing practice guidelines, insurance laws, and directories of genetics clinics are included. Copyright © 2018 Elsevier B.V. All rights reserved.

  20. Databases for neurogenetics: introduction, overview, and challenges.

    Science.gov (United States)

    Sobrido, María-Jesús; Cacheiro, Pilar; Carracedo, Angel; Bertram, Lars

    2012-09-01

    The importance for research and clinical utility of mutation databases, as well as the issues and difficulties entailed in their construction, is discussed within the Human Variome Project. While general principles and standards can apply to most human diseases, some specific questions arise when dealing with the nature of genetic neurological disorders. So far, publically accessible mutation databases exist for only about half of the genes causing neurogenetic disorders; and a considerable work is clearly still needed to optimize their content. The current landscape, main challenges, some potential solutions, and future perspectives on genetic databases for disorders of the nervous system are reviewed in this special issue of Human Mutation on neurogenetics. © 2012 Wiley Periodicals, Inc.

  1. Neurogenetics of birdsong.

    Science.gov (United States)

    Scharff, Constance; Adam, Iris

    2013-02-01

    Songbirds are a productive model organism to study the neural basis of auditory-guided vocal motor learning. Like human babies, juvenile songbirds learn many of their vocalizations by imitating an adult conspecific. This process is a product of genetic predispositions and the individual's life experience and has been investigated mainly by neuroanatomical, physiological and behavioral methods. Results have revealed general principles governing vertebrate motor behavior, sensitive periods, sexual dimorphism, social behavior regulation and adult neurogenesis. More recently, the emerging field of birdsong neurogenetics has advanced the way we think about genetic contributions to communication, mechanistically and conceptually. Copyright © 2012 Elsevier Ltd. All rights reserved.

  2. Call for participation in the neurogenetics consortium within the Human Variome Project.

    Science.gov (United States)

    Haworth, Andrea; Bertram, Lars; Carrera, Paola; Elson, Joanna L; Braastad, Corey D; Cox, Diane W; Cruts, Marc; den Dunnen, Johann T; Farrer, Matthew J; Fink, John K; Hamed, Sherifa A; Houlden, Henry; Johnson, Dennis R; Nuytemans, Karen; Palau, Francesc; Rayan, Dipa L Raja; Robinson, Peter N; Salas, Antonio; Schüle, Birgitt; Sweeney, Mary G; Woods, Michael O; Amigo, Jorge; Cotton, Richard G H; Sobrido, Maria-Jesus

    2011-08-01

    The rate of DNA variation discovery has accelerated the need to collate, store and interpret the data in a standardised coherent way and is becoming a critical step in maximising the impact of discovery on the understanding and treatment of human disease. This particularly applies to the field of neurology as neurological function is impaired in many human disorders. Furthermore, the field of neurogenetics has been proven to show remarkably complex genotype-to-phenotype relationships. To facilitate the collection of DNA sequence variation pertaining to neurogenetic disorders, we have initiated the "Neurogenetics Consortium" under the umbrella of the Human Variome Project. The Consortium's founding group consisted of basic researchers, clinicians, informaticians and database creators. This report outlines the strategic aims established at the preliminary meetings of the Neurogenetics Consortium and calls for the involvement of the wider neurogenetic community in enabling the development of this important resource.

  3. Neurogenetics in Child Neurology: Redefining a Discipline in the Twenty-first Century.

    Science.gov (United States)

    Kaufmann, Walter E

    2016-12-01

    Increasing knowledge on genetic etiology of pediatric neurologic disorders is affecting the practice of the specialty. I reviewed here the history of pediatric neurologic disorder classification and the role of genetics in the process. I also discussed the concept of clinical neurogenetics, with its role in clinical practice, education, and research. Finally, I propose a flexible model for clinical neurogenetics in child neurology in the twenty-first century. In combination with disorder-specific clinical programs, clinical neurogenetics can become a home for complex clinical issues, repository of genetic diagnostic advances, educational resource, and research engine in child neurology.

  4. [Neurogenetics and Neuroepigenetics].

    Science.gov (United States)

    Savvateeva-Popova, E V; Nikitina, E A; Medvedeva, A V

    2015-05-01

    "Genetics of behavior," or "Neurogenetics," is based on the evolutionary ideas of T. Dobzhansky on brain development and behavior. It continues with the "experimental genetics of higher nervous activity" of I. Pavlov and uses a comparative approach in the study of heredity and variation in behavioral manifestations, from Protozoa to humans. The study of the classical Pavlovian conditioned reflex in mutant Drosophila helped to identify the main types of memory and their evolutionary conservatism. Long-term memory defects are caused by mutations of the same genes as in mental, retardation in humans, when signaling cascades intersecting with the cAMP-dependent pathway are damaged. The cascade of actin remodeling is also among these. The key enzyme, LIM-kinase 1, controls cognitive manifestations of the "genomic disease" Williams deletion syndrome. Its study resulted in the recognition of neuroepigenetics as an interface between the genome and environmental influences. Epigenetic factors of "variability"--DNA methylation, histone acetylation, and microRNA regulation--do not change the structure of the gene but its manifestations. Certain miRNAs have already been considered to be both biomarkers for neurodegenerative diseases and factors of the intergenerational transmission of the behaviorial properties of ancestors who experienced stress from adverse environmental influences.

  5. Just in time: an update on continuum neurogenetics.

    Science.gov (United States)

    Rost, Natalia S

    2011-04-01

    The field of neurogenetics has been revolutionized by the advances in genome-wide association testing. Recent gene discoveries for disorders of neurodegeneration, CNS demyelination, and neurodevelopmental and cerebrovascular syndromes begin to shape our understanding of the complexity of their underlying genetic architecture. In the future, this knowledge should advance risk prediction, prevention, diagnosis, and treatment strategies for patients with neurologic disorders and their families.

  6. Tangles of neurogenetics, neuroethics, and culture.

    Science.gov (United States)

    Brief, Elana; Illes, Judy

    2010-10-21

    Neurogenetics promises rich insights into how the mind works. Researchers investigating the range of topics from normal brain functioning to pathological states are increasingly looking to genetics for clues on human variability and disease etiology. Is it fair to assume this interest in neurogenetics is universal? How should researchers and clinicians approach ideas of consent to research or prediction of disease when a subject or patient understands the mind with concepts or language incompatible with neurogenetics? In this paper we consider how non-Western philosophies bring complexity to ideas of individual and community consent and confidentiality in the context of neurogenetics. Copyright © 2010 Elsevier Inc. All rights reserved.

  7. Clinical neurogenetics: friedreich ataxia.

    Science.gov (United States)

    Collins, Abigail

    2013-11-01

    Friedreich ataxia is the most common autosomal recessive ataxia. It is a progressive neurodegenerative disorder, typically with onset before 20 years of age. Signs and symptoms include progressive ataxia, ascending weakness and ascending loss of vibration and joint position senses, pes cavus, scoliosis, cardiomyopathy, and arrhythmias. There are no disease-modifying medications to either slow or halt the progression of the disease, but research investigating therapies to increase endogenous frataxin production and decrease the downstream consequences of disrupted iron homeostasis is ongoing. Clinical trials of promising medications are underway, and the treatment era of Friedreich ataxia is beginning. Copyright © 2013 Elsevier Inc. All rights reserved.

  8. Clinical neurogenetics: stroke.

    Science.gov (United States)

    Rost, Natalia S

    2013-11-01

    Understanding the genetic architecture of cerebrovascular disease holds promise of novel stroke prevention strategies and therapeutics that are both safe and effective. Apart from a few single-gene disorders associated with cerebral ischemia or intracerebral hemorrhage, stroke is a complex genetic phenotype that requires careful ascertainment and robust association testing for discovery and validation analyses. The recently uncovered shared genetic contribution between clinically manifest stroke syndromes and closely related intermediate cerebrovascular phenotypes offers effective and efficient approaches to complex trait analysis. Copyright © 2013 Elsevier Inc. All rights reserved.

  9. Clinical neurogenetics: huntington disease.

    Science.gov (United States)

    Bordelon, Yvette M

    2013-11-01

    Huntington disease (HD) is an autosomal dominant, adult-onset, progressive neurodegenerative disease characterized by the triad of abnormal movements (typically chorea), cognitive impairment, and psychiatric problems. It is caused by an expanded CAG repeat in the gene encoding the protein huntingtin on chromosome 4 and causes progressive atrophy of the striatum as well as cortical and other extrastriatal structures. Genetic testing has been available since 1993 to confirm diagnosis in affected adults and for presymptomatic testing in at-risk individuals. This review covers HD signs, symptoms, and pathophysiology; current genetic testing issues; and current and future treatment strategies. Copyright © 2013 Elsevier Inc. All rights reserved.

  10. [Neurogenetics in Peru, example of translational research].

    Science.gov (United States)

    Mazzetti, Pilar; Inca-Martínez, Miguel; Tirado-Hurtado, Indira; Milla-Neyra, Karina; Silva-Paredes, Gustavo; Vishnevetsky, Anastasia; Cornejo-Olivas, Mario

    2015-10-01

    Neurogenetics is an emerging discipline in Peru that links basic research with clinical practice. The Neurogenetics Research Center located in Lima, Peru is the only unit dedicated to the specialized care of neurogenetic diseases in the country. From the beginning, neurogenetics research has been closely linked to the study of Huntington’s Disease (HD), from the PCR genotyping of the HTT gene, to the current haplogroup studies in HD. Research in other monogenic diseases led to the implementation of alternative methodologies for the genotyping of Fragile X and Myotonic Dystrophy Type 1. Both, national and international collaborative efforts have facilitated the discovery of new genetic variants in complex multigenic diseases such as Parkinson’s disease and Alzheimer’s disease. Additionally, multidisciplinary education and mentoring have allowed for the training of new neurogenetics specialists, supporting the sustained growth of the discipline in the country. The promotion of research in Peru has spurred the growth of neurogenetics research, although limitations in infrastructure, technology, and education remain a challenge for the further growth of research in this field.

  11. The Genetics, Neurogenetics and Pharmacogenetics of Addiction.

    Science.gov (United States)

    Demers, Catherine H; Bogdan, Ryan; Agrawal, Arpana

    2014-03-01

    Addictions are prevalent psychiatric disorders that confer remarkable personal and social burden. Despite substantial evidence for their moderate, yet robust, heritability (approx. 50%), specific genetic mechanisms underlying their development and maintenance remain unclear. The goal of this selective review is to highlight progress in unveiling the genetic underpinnings of addiction. First, we revisit the basis for heritable variation in addiction before reviewing the most replicable candidate gene findings and emerging signals from genomewide association studies for alcohol, nicotine and cannabis addictions. Second, we survey the modest but growing field of neurogenetics examining how genetic variation influences corticostriatal structure, function, and connectivity to identify neural mechanisms that may underlie associations between genetic variation and addiction. Third, we outline how extant genomic findings are being used to develop and refine pharmacotherapies. Finally, as sample sizes for genetically informed studies of addiction approach critical mass, we posit five exciting possibilities that may propel further discovery (improved phenotyping, rare variant discovery, gene-environment interplay, epigenetics, and novel neuroimaging designs).

  12. The Neurogenetic Correlates of Consciousness

    Science.gov (United States)

    Grandy, John K.

    2013-09-01

    The neurogenetic correlates of consciousness (NgCC) is a new field of consciousness studies that focuses on genes that have an effect on or are involved in the continuum of neuron-based consciousness. A framework of consciousness based on the neural correlates of consciousness (NCC) has already been established by Francis Crick and Christof Kock. In this work I propose that there are NgCC underlying the NCC which are both active during the conscious experience. So how are genes involved? There are two significant connections between DNA and neurons that are involved in the conscious experience. First, any brain system can be adversely affected by underlying genetic abnormalities which can be expressed in an individual at birth, in adulthood, or later in life. Second, the DNA molecule does not lay dormant while the neuron runs on autopilot. DNA is active in translating and transcribing RNA and protein products that are utilized during neuron functioning. Without these products being continuously produced by the DNA during a conscious experience the neurons would cease to function correctly and be rendered unable to provide a continuum of human consciousness. Consequently, in addition to NCC, NgCC must be factored in when appreciating a conscious event. In this work I will discuss and explain some NgCC citing several examples.

  13. Neurogenetics: advancing the "next-generation" of brain research.

    Science.gov (United States)

    Zoghbi, Huda Y; Warren, Stephen T

    2010-10-21

    There can be little doubt that genetics has transformed our understanding of mechanisms mediating brain disorders. The last two decades have brought tremendous progress in terms of accurate molecular diagnoses and knowledge of the genes and pathways that are involved in a large number of neurological and psychiatric disorders. Likewise, new methods and analytical approaches, including genome array studies and "next-generation" sequencing technologies, are bringing us deeper insights into the subtle complexities of the genetic architecture that determines our risks for these disorders. As we now seek to translate these discoveries back to clinical applications, a major challenge for the field will be in bridging the gap between genes and biology. In this Overview of Neuron's special review issue on neurogenetics, we reflect on progress made over the last two decades and highlight the challenges as well as the exciting opportunities for the future. Copyright © 2010 Elsevier Inc. All rights reserved.

  14. Sleep phenotypes in infants and toddlers with neurogenetic syndromes.

    Science.gov (United States)

    Abel, Emily A; Tonnsen, Bridgette L

    2017-10-01

    Although sleep problems are well characterized in preschool- and school-age children with neurogenetic syndromes, little is known regarding the early emergence of these problems in infancy and toddlerhood. To inform syndrome-specific profiles and targets for intervention, we compared parent-reported sleep problems in infants and toddlers with Angelman syndrome (AS), Williams syndrome (WS), and Prader-Willi syndrome (PWS) with patterns observed among same-aged typically developing (TD) controls. Mothers of 80 children (18 AS, 19 WS, 19 PWS, and 24 TD) completed the Brief Infant Sleep Questionnaire. Primary dependent variables included (1) sleep onset latency, (2) total sleep duration, (3) daytime and nighttime sleep duration, and (4) sleep problem severity, as measured by both maternal impression and National Sleep Foundation guidelines. Sleep problems are relatively common in children with neurogenetic syndromes, with 41% of mothers reporting problematic sleep and 29% of children exhibiting abnormal sleep durations as per national guidelines. Across genetic subgroups, problems are most severe in children with AS and WS, particularly in relation to nighttime sleep duration. Although atypical sleep is characteristically reported in each syndrome later in development, infants and toddlers with PWS exhibited largely typical patterns, potentially indicating delayed onset of sleep problems in concordance with other medical features of PWS. Our findings suggest that sleep problems in neurogenetic syndromes emerge as early as infancy and toddlerhood, with variable profiles across genetic subgroups. This work underscores the importance of early sleep screenings as part of routine medical care of neurosyndromic populations and the need for targeted, syndrome-sensitive treatment. Copyright © 2017 Elsevier B.V. All rights reserved.

  15. [Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal].

    Science.gov (United States)

    Gomes, Tiago; Guimaraes, Joana; Leão, Miguel

    2017-06-30

    In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan. Clinical history is essential to guide the diagnostic workup, but often the phenotype does not hold enough specificity to allow for predicting the genotype. The Group of Neurogenetics of the Centro Hospitalar São João, a multidisciplinary team of neurologists and geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic aetiology of neurodegenerative ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information) and published scientific evidence on this topic. At the time these recommendations were written, there were around 10 well described autosomal recessive loci and more than 27 autosomal dominant loci for neurodegenerative ataxias. This document covers, in a pragmatic way, the rational process used for the genetic diagnosis of neurodegenerative ataxias, with specific recommendations for the various groups of these heterogeneous diseases, per the Portuguese reality.

  16. Investigation of Genetic Aetiology in Neurodegenerative Ataxias: Recommendations from the Group of Neurogenetics of Centro Hospitalar São João, Portugal

    Directory of Open Access Journals (Sweden)

    Tiago Gomes

    2017-06-01

    Full Text Available In recent decades, a long and increasing list of monogenic neurodegenerative ataxias has been identified, allowing for better characterization of the pathophysiology, phenotype and prognosis of this heterogeneous group of disorders, while also revealing potential new therapeutic targets. However, the heterogeneity and complexity of the genotype-phenotype relationships and the high costs of molecular genetics often make it difficult for clinicians to decide on a molecular investigation based on an unbiased rational plan. Clinical history is essential to guide the diagnostic workup, but often the phenotype does not hold enough specificity to allow for predicting the genotype. The Group of Neurogenetics of the Centro Hospitalar São João, a multidisciplinary team of neurologists and geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic aetiology of neurodegenerative ataxias in clinical practice, based on international consensus documents (currently containing potentially outdated information and published scientific evidence on this topic. At the time these recommendations were written, there were around 10 well described autosomal recessive loci and more than 27 autosomal dominant loci for neurodegenerative ataxias. This document covers, in a pragmatic way, the rational process used for the genetic diagnosis of neurodegenerative ataxias, with specific recommendations for the various groups of these heterogeneous diseases, per the Portuguese reality.

  17. Neurogenetics of slow axonal transport: from cells to animals.

    Science.gov (United States)

    Sadananda, Aparna; Ray, Krishanu

    2012-09-01

    Slow axonal transport is a multivariate phenomenon implicated in several neurodegenerative disorders. Recent reports have unraveled the molecular basis of the transport of certain slow component proteins, such as the neurofilament subunits, tubulin, and certain soluble enzymes such as Ca(2+)/calmodulin-dependent protein kinase IIa (CaM kinase IIa), etc., in tissue cultured neurons. In addition, genetic analyses also implicate microtubule-dependent motors and other housekeeping proteins in this process. However, the biological relevance of this phenomenon is not so well understood. Here, the authors have discussed the possibility of adopting neurogenetic analyses in multiple model organisms to correlate molecular level measurements of the slow transport phenomenon to animal behavior, thus facilitating the investigation of its biological efficacy.

  18. Neurogenetics in Argentina: diagnostic yield in a personalized research based clinic.

    Science.gov (United States)

    Rodríguez-Quiroga, Sergio Alejandro; Cordoba, Marta; González-Morón, Dolores; Medina, Nancy; Vega, Patricia; Dusefante, Cecilia Vazquez; Arakaki, Tomoko; Garretto, Nélida Susana; Kauffman, Marcelo Andres

    2015-01-01

    As a whole neurogenetic diseases are a common group of neurological disorders. However, the recognitionand molecular diagnosis of these disorders is not always straightforward. Besides, there is a paucity of informationregarding the diagnostic yield that specialized neurogenetic clinics could obtain. We performed a prospective,observational, analytical study of the patients seen in a neurogenetic clinic at a tertiary medicalcentre to assess the diagnostic yield of a comprehensive diagnostic evaluation that included a personalizedclinical assessment along with traditional and next-generation sequencing diagnostic tests. We included a cohortof 387 patients from May 2008 to June 2014. For sub-group analysis we selected a sample of patientswhose main complaint was the presence of progressive ataxia, to whom we applied a systematic moleculardiagnostic algorithm. Overall, a diagnostic mutation was identified in 27·4% of our cohort. However, if weonly considered those patients where a molecular test could be performed, the success rate rises to 45%. Weobtained diagnostic yields of 23·5 and 57·5% in the global group of ataxic patients and in the subset of ataxicpatients with a positive family history, respectively. Thus, about a third of patients evaluated in a neurogeneticclinic could be successfully diagnosed.

  19. Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

    Directory of Open Access Journals (Sweden)

    Marta Córdoba

    Full Text Available Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country-are rare.To assess the diagnostic yield of WES in patients suspected of having a neurogenetic condition and explore the cost-effectiveness of its implementation in a research group located in an Argentinean public hospital.This is a prospective study of the clinical utility of WES in a series of 40 consecutive patients selected from a Neurogenetic Clinic of a tertiary Hospital in Argentina. We evaluated patients retrospectively for previous diagnostic trajectories. Diagnostic yield, clinical impact on management and economic diagnostic burden were evaluated.We demonstrated the clinical utility of Whole Exome Sequencing in our patient cohort, obtaining a diagnostic yield of 40% (95% CI, 24.8%-55.2% among a diverse group of neurological disorders. The average age at the time of WES was 23 (range 3-70. The mean time elapsed from symptom onset to WES was 11 years (range 3-42. The mean cost of the diagnostic workup prior to WES was USD 1646 (USD 1439 to 1853, which is 60% higher than WES cost in our center.WES for neurogenetics proved to be an effective, cost- and time-saving approach for the molecular diagnosis of this heterogeneous and complex group of patients.

  20. Revisiting genotype-phenotype overlap in neurogenetics: triplet-repeat expansions mimicking spastic paraplegias.

    Science.gov (United States)

    Bettencourt, Conceição; Quintáns, Beatriz; Ros, Raquel; Ampuero, Israel; Yáñez, Zuleima; Pascual, Samuel Ignacio; de Yébenes, Justo García; Sobrido, María-Jesús

    2012-09-01

    Hereditary spastic paraplegias (HSPs) constitute a heterogeneous group of neurological disorders, characterized primarily by progressive spasticity and weakness of the lower limbs. HSPs are caused by mutations in multiple genes (at least 48 loci and 28 causative genes). The clinical spectrum of HSPs is wide and important differences have been reported between patients with distinct mutations in the same gene, or even between different family members bearing the same mutation. Many patients with HSP present clinical deficits related to the involvement of neuronal systems other than corticospinal tracts, namely, peripheral nerves, sensory, or cerebellar pathways. These cases may be difficult to differentiate from other neurological diseases (e.g., hereditary ataxias), also genetically and clinically heterogeneous. As an illustration of how overlapping this genotype-phenotype relationship is, and the difficulties that it brings upon the development of neurogenetic algorithms and databases, we review the main clinical and genetic features of HSPs, and summarize reports on cases of triplet-repeat spinocerebellar ataxias that can mimic HSP phenotypes. This complex scenario makes the necessity of high-quality, curated mutation databases even more urgent, in order to develop adequate diagnostic guidelines, correct interpretation of genetic testing, and appropriate genetic counseling. © 2012 Wiley Periodicals, Inc.

  1. Neuro-genetic system for optimization of GMI samples sensitivity.

    Science.gov (United States)

    Pitta Botelho, A C O; Vellasco, M M B R; Hall Barbosa, C R; Costa Silva, E

    2016-03-01

    Magnetic sensors are largely used in several engineering areas. Among them, magnetic sensors based on the Giant Magnetoimpedance (GMI) effect are a new family of magnetic sensing devices that have a huge potential for applications involving measurements of ultra-weak magnetic fields. The sensitivity of magnetometers is directly associated with the sensitivity of their sensing elements. The GMI effect is characterized by a large variation of the impedance (magnitude and phase) of a ferromagnetic sample, when subjected to a magnetic field. Recent studies have shown that phase-based GMI magnetometers have the potential to increase the sensitivity by about 100 times. The sensitivity of GMI samples depends on several parameters, such as sample length, external magnetic field, DC level and frequency of the excitation current. However, this dependency is yet to be sufficiently well-modeled in quantitative terms. So, the search for the set of parameters that optimizes the samples sensitivity is usually empirical and very time consuming. This paper deals with this problem by proposing a new neuro-genetic system aimed at maximizing the impedance phase sensitivity of GMI samples. A Multi-Layer Perceptron (MLP) Neural Network is used to model the impedance phase and a Genetic Algorithm uses the information provided by the neural network to determine which set of parameters maximizes the impedance phase sensitivity. The results obtained with a data set composed of four different GMI sample lengths demonstrate that the neuro-genetic system is able to correctly and automatically determine the set of conditioning parameters responsible for maximizing their phase sensitivities. Copyright © 2015 Elsevier Ltd. All rights reserved.

  2. The neurogenetics of alternative splicing.

    Science.gov (United States)

    Vuong, Celine K; Black, Douglas L; Zheng, Sika

    2016-05-01

    Alternative precursor-mRNA splicing is a key mechanism for regulating gene expression in mammals and is controlled by specialized RNA-binding proteins. The misregulation of splicing is implicated in multiple neurological disorders. We describe recent mouse genetic studies of alternative splicing that reveal its critical role in both neuronal development and the function of mature neurons. We discuss the challenges in understanding the extensive genetic programmes controlled by proteins that regulate splicing, both during development and in the adult brain.

  3. The benefits of a Neurogenetics clinic in an adult Academic Teaching Hospital.

    Science.gov (United States)

    Olszewska, Diana A; McVeigh, Terri; Fallon, Emer M; Pastores, Gregory M; Lynch, Tim

    2018-03-09

    Genetics is the backbone of Neurology, where a number of disorders have a genetic aetiology and are complex, requiring a dedicated Neurogenetics clinic. Genetics in the Republic of Ireland is under-resourced, with the lowest number of consultants per million of population in Europe. In November 2014, we established the monthly adult Neurogenetics clinic in Ireland, staffed by 2 consultants and 2 registrars from each speciality. We see patients with complex rare neurological conditions that may potentially have an underlying genetic basis, in the presence or absence of a family history. We performed a retrospective cohort analysis, reviewing symptoms and work-up data. Twenty-seven patients attended a pilot clinic over 12 months. Conditions encountered included Parkin-related PD, leucodystrophy, ataxia, fronto-temporal lobar degeneration, spinocerebellar ataxia type 6 (SCA6) and ataxia-telangiectasia. Identification of pathogenic mutations directed screening, treatment and facilitated onward genetic counselling (n = 10, 33%). A number of novel mutations were identified in MAPT gene ("missing tau mutation" McCarthy et al., Brain, 2015), SLCA1 gene and GRN (progranulin). Phenotypic features not previously reported were seen; e.g. writer's cramp in SCA6; paroxysmal myoclonus in the glucose transporter protein type 1 (GLUT1) deficiency. Breast cancer screening for ATM mutations carriers and referral to international experts in two undiagnosed patients were arranged. The establishment of a Neurogenetics clinic has addressed a gap in service and allowed identification of rare and atypical diagnoses.

  4. Neurogenetics and auditory processing in developmental dyslexia.

    Science.gov (United States)

    Giraud, Anne-Lise; Ramus, Franck

    2013-02-01

    Dyslexia is a polygenic developmental reading disorder characterized by an auditory/phonological deficit. Based on the latest genetic and neurophysiological studies, we propose a tentative model in which phonological deficits could arise from genetic anomalies of the cortical micro-architecture in the temporal lobe. Copyright © 2012 Elsevier Ltd. All rights reserved.

  5. Neurogenetics of aggressive behavior: studies in primates.

    Science.gov (United States)

    Barr, Christina S; Driscoll, Carlos

    2014-01-01

    Aggressive behavior can have adaptive value in certain environmental contexts, but when extreme or executed inappropriately, can also lead to maladaptive outcomes. Neurogenetic studies performed in nonhuman primates have shown that genetic variation that impacts reward sensitivity, impulsivity, and anxiety can contribute to individual differences in aggressive behavior. Genetic polymorphisms in the coding or promoter regions of the Mu-Opioid Receptor (OPRM1), Corticotropin Releasing Hormone (CRH), Monoamine Oxidase A (MAOA), Dopamine D4 Receptor (DRD4), and Serotonin Transporter (SLC6A4) genes have been shown to be functionally similar in humans and rhesus macaques and have been demonstrated to contribute to individual differences in aggression. This body of literature suggests mechanisms by which genetic variation that promotes aggressivity could simultaneously increase evolutionary success while making modern humans more vulnerable to psychopathology.

  6. Clinical neurogenetics: autosomal dominant spinocerebellar ataxia.

    Science.gov (United States)

    Shakkottai, Vikram G; Fogel, Brent L

    2013-11-01

    The autosomal dominant spinocerebellar ataxias are a diverse and clinically heterogeneous group of disorders characterized by degeneration and dysfunction of the cerebellum and its associated pathways. Clinical and diagnostic evaluation can be challenging because of phenotypic overlap among causes, and a stratified and systematic approach is essential. Recent advances include the identification of additional genes causing dominant genetic ataxia, a better understanding of cellular pathogenesis in several disorders, the generation of new disease models that may stimulate development of new therapies, and the use of new DNA sequencing technologies, including whole-exome sequencing, to improve diagnosis. Copyright © 2013 Elsevier Inc. All rights reserved.

  7. Neurogenetics of aggressive behavior: studies in rodents.

    Science.gov (United States)

    Takahashi, Aki; Miczek, Klaus A

    2014-01-01

    Aggressive behavior is observed in many animal species, such as insects, fish, lizards, frogs, and most mammals including humans. This wide range of conservation underscores the importance of aggressive behavior in the animals' survival and fitness, and the likely heritability of this behavior. Although typical patterns of aggressive behavior differ between species, there are several concordances in the neurobiology of aggression among rodents, primates, and humans. Studies with rodent models may eventually help us to understand the neurogenetic architecture of aggression in humans. However, it is important to recognize the difference between the ecological and ethological significance of aggressive behavior (species-typical aggression) and maladaptive violence (escalated aggression) when applying the findings of aggression research using animal models to human or veterinary medicine. Well-studied rodent models for aggressive behavior in the laboratory setting include the mouse (Mus musculus), rat (Rattus norvegicus), hamster (Mesocricetus auratus), and prairie vole (Microtus ochrogaster). The neural circuits of rodent aggression have been gradually elucidated by several techniques, e.g., immunohistochemistry of immediate-early gene (c-Fos) expression, intracranial drug microinjection, in vivo microdialysis, and optogenetics techniques. Also, evidence accumulated from the analysis of gene-knockout mice shows the involvement of several genes in aggression. Here, we review the brain circuits that have been implicated in aggression, such as the hypothalamus, prefrontal cortex (PFC), dorsal raphe nucleus (DRN), nucleus accumbens (NAc), and olfactory system. We then discuss the roles of glutamate and γ-aminobutyric acid (GABA), excitatory and inhibitory amino acids in the brain, as well as their receptors, in controlling aggressive behavior, focusing mainly on recent findings. At the end of this chapter, we discuss how genes can be identified that underlie individual

  8. Developmental neurogenetics and multimodal neuroimaging of sex differences in autism.

    Science.gov (United States)

    Chen, Christina; Van Horn, John Darrell

    2017-02-01

    Examining sex differences in the brain has been historically contentious but is nonetheless important for advancing mental health for both girls and boys. Unfortunately, females in biomedical research remain underrepresented in most mental health conditions including autism spectrum disorders (ASD), even though equal inclusion of females would improve treatment for girls and yield benefits to boys. This review examines sex differences in the relationship between neuroanatomy and neurogenetics of ASD. Recent findings reveal that girls diagnosed with ASD exhibit more intellectual and behavioral problems compared to their male counterparts, suggesting that girls may be less likely diagnosed in the absence of such problems or that they require a higher mutational load to meet the diagnostic criteria. Thus far, the female biased effect of chromosome 4, 5p15.33, 8p, 9p24.1, 11p12-13, 15q, and Xp22.3 and the male biased effect of 1p31.3, 5q12.3, 7q, 9q33.3, 11q13.4, 13q33.3, 16p11.2, 17q11-21, Xp22.33/Yp11.31, DRD1, NLGN3, MAOA, and SHANK1 deletion have been discovered in ASD. The SNPs of genes such as RYR2, UPP2, and the androgen receptor gene have been shown to have sex-biasing factors in both girls and boys diagnosed with ASD. These sex-related genetic factors may drive sex differences in the neuroanatomy of these girls and boys, including abnormal enlargement in temporal gray and white matter volumes, and atypical reduction in cerebellar gray matter volumes and corpus callosum fibers projecting to the anterior frontal cortex in ASD girls relative to boys. Such factors may also be responsible for the attenuation of brain sexual differentiation in adult men and women with ASD; however, much remains to be uncovered or replicated. Future research should leverage further the association between neuroanatomy and genetics in girls for an integrated and interdisciplinary understanding of ASD.

  9. Genome-scale neurogenetics: methodology and meaning.

    Science.gov (United States)

    McCarroll, Steven A; Feng, Guoping; Hyman, Steven E

    2014-06-01

    Genetic analysis is currently offering glimpses into molecular mechanisms underlying such neuropsychiatric disorders as schizophrenia, bipolar disorder and autism. After years of frustration, success in identifying disease-associated DNA sequence variation has followed from new genomic technologies, new genome data resources, and global collaborations that could achieve the scale necessary to find the genes underlying highly polygenic disorders. Here we describe early results from genome-scale studies of large numbers of subjects and the emerging significance of these results for neurobiology.

  10. Clinical neurogenetics: dystonia from phenotype to genotype.

    Science.gov (United States)

    Waugh, Jeffrey L; Sharma, Nutan

    2013-11-01

    Dystonia can arise from genetic syndromes or can be secondary to nongenetic injuries; both causes can produce pure dystonia, dystonia plus other movement disorders, or paroxysmal mixed movement disorders. Genetic causes of dystonia are inherited through dominant, recessive, X-linked, and mitochondrial mechanisms, may show anticipation, are variably penetrant, and may be limited to small ethnic populations or single families. In this article, the genetic causes of dystonia, an algorithm for their diagnosis and management, information on common medications and surgical treatments, and resources for affected families and those interested in advancing research are presented. Copyright © 2013 Elsevier Inc. All rights reserved.

  11. [Genetic Study of Primary Dystonias: Recommendations from the Centro Hospitalar São João Neurogenetics Group].

    Science.gov (United States)

    Monteiro, Ana; Massano, João; Leão, Miguel; Garrett, Carolina

    2017-04-28

    The primary dystonias are a particular group of dystonias of presumed genetic origin, with a wide age of onset and variable progression. The diagnosis is, therefore, a challenge and the issue of the genetic investigation presents frequently in clinical practice. In the past few years several gene mutations have been identified as causative of primary dystonias. The choice of molecular testing is complex, given the clinical specificities and low frequency of these entities and the cost of genetic testing. It must follow observation by specialized clinicians highly differentiated in this area and be supported by a rational plan of investigation. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of the primary dystonias, based on international consensus documents and recent published scientific evidence. This manuscript adopts the new classification system for genetic movement disorders, allowing for its systematic and standardized use in clinical practice.

  12. Neurogenetic and Neurodevelopmental Pathways to Learning Disabilities.

    Science.gov (United States)

    Mazzocco, Michele M. M.; And Others

    1997-01-01

    This paper reviews ongoing research designed to specify the cognitive, behavioral, and neuroanatomical phenotypes of specific genetic etiologies of learning disability. The genetic disorders at the focus of the research include reading disability, neurofibromatosis type 1, Tourette syndrome, and fragile X syndrome. Implications for identifying…

  13. Neurogenetics of Pelizaeus-Merzbacher disease.

    Science.gov (United States)

    Osório, M Joana; Goldman, Steven A

    2018-01-01

    Pelizaeus-Merzbacher disease (PMD) is an X-linked disorder caused by mutations in the PLP1 gene, which encodes the proteolipid protein of myelinating oligodendroglia. PMD exhibits phenotypic variability that reflects its considerable genotypic heterogeneity, but all forms of the disease result in central hypomyelination associated with early neurologic dysfunction, progressive deterioration, and ultimately death. PMD has been classified into three major subtypes, according to the age of presentation: connatal PMD, classic PMD, and transitional PMD, combining features of both connatal and classic forms. Two other less severe phenotypes were subsequently described, including the spastic paraplegia syndrome and PLP1-null disease. These disorders may be associated with duplications, as well as with point, missense, and null mutations within the PLP1 gene. A number of clinically similar Pelizaeus-Merzbacher-like disorders (PMLD) are considered in the differential diagnosis of PMD, the most prominent of which is PMLD-1, caused by misexpression of the GJC2 gene encoding connexin-47. No effective therapy for PMD exists. Yet, as a relatively pure central nervous system hypomyelinating disorder, with limited involvement of the peripheral nervous system and little attendant neuronal pathology, PMD is an attractive therapeutic target for neural stem cell and glial progenitor cell transplantation, efforts at which are now underway in a number of centers internationally. Copyright © 2018 Elsevier B.V. All rights reserved.

  14. Neurogenetic Algorithm for Solving Combinatorial Engineering Problems

    Directory of Open Access Journals (Sweden)

    M. Jalali Varnamkhasti

    2012-01-01

    Full Text Available Diversity of the population in a genetic algorithm plays an important role in impeding premature convergence. This paper proposes an adaptive neurofuzzy inference system genetic algorithm based on sexual selection. In this technique, for choosing the female chromosome during sexual selection, a bilinear allocation lifetime approach is used to label the chromosomes based on their fitness value which will then be used to characterize the diversity of the population. The motivation of this algorithm is to maintain the population diversity throughout the search procedure. To promote diversity, the proposed algorithm combines the concept of gender and age of individuals and the fuzzy logic during the selection of parents. In order to appraise the performance of the techniques used in this study, one of the chemistry problems and some nonlinear functions available in literature is used.

  15. Neurogenetic evidence in the courtroom: a randomised controlled trial with German judges.

    Science.gov (United States)

    Fuss, Johannes; Dressing, Harald; Briken, Peer

    2015-11-01

    Prominent court decisions and recent research suggest that introduction of neurogenetic evidence, for example, monoamine oxidase A alleles, may reduce the sentence of convicted psychopaths. Here, we are aiming to demonstrate that judges' response to neurogenetic evidence is highly influenced by the legal system in which they operate. Participating German judges (n=372) received a hypothetical case vignette of aggravated battery, and were randomly assigned to expert testimonies that either involved a neurogenetic explanation of the offender's psychopathy or only a psychiatric diagnosis of psychopathy. Testimonies were presented either by the prosecution or defence. Neurogenetic evidence significantly reduced judges' estimation of legal responsibility of the convict. Nevertheless, the average prison sentence was not affected in the German legal system. Most interestingly, analysis of judges' reasoning revealed that neurogenetic arguments presented by the prosecution significantly increased the number of judges (23% compared with ∼ 6%) ordering an involuntary commitment in a forensic psychiatric hospital. Such an involuntary commitment due to diminished or absent legal responsibility may last much longer than a prison sentence in the German legal system. Our data, thus, demonstrate the socially contingent nature of legal responses to neurogenetic evidence in criminal cases. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  16. Developmental psychopathology in an era of molecular genetics and neuroimaging: A developmental neurogenetics approach.

    Science.gov (United States)

    Hyde, Luke W

    2015-05-01

    The emerging field of neurogenetics seeks to model the complex pathways from gene to brain to behavior. This field has focused on imaging genetics techniques that examine how variability in common genetic polymorphisms predict differences in brain structure and function. These studies are informed by other complimentary techniques (e.g., animal models and multimodal imaging) and have recently begun to incorporate the environment through examination of Imaging Gene × Environment interactions. Though neurogenetics has the potential to inform our understanding of the development of psychopathology, there has been little integration between principles of neurogenetics and developmental psychopathology. The paper describes a neurogenetics and Imaging Gene × Environment approach and how these approaches have been usefully applied to the study of psychopathology. Six tenets of developmental psychopathology (the structure of phenotypes, the importance of exploring mechanisms, the conditional nature of risk, the complexity of multilevel pathways, the role of development, and the importance of who is studied) are identified, and how these principles can further neurogenetics applications to understanding the development of psychopathology is discussed. A major issue of this piece is how neurogenetics and current imaging and molecular genetics approaches can be incorporated into developmental psychopathology perspectives with a goal of providing models for better understanding pathways from among genes, environments, the brain, and behavior.

  17. Control and characterization of spatio-temporal disorder in ...

    Indian Academy of Sciences (India)

    characterizing the type of spatio-temporal disorder that is embodied in this disordered ... The results from this experiment will shed light on the more general questions ... sponds to only odd or even multiples of the common frequency, ω0. Thus ...

  18. Inherited proclivity: When should neurogenetics mitigate moral culpability for purposes of sentencing?

    Science.gov (United States)

    Segal, J Bradley

    2016-04-01

    Certain genes and neurobiology ('neurogenetics') may predispose some people to violent behavior. Increasingly, defendants introduce neurogenetic evidence as a mitigating factor during criminal sentencing. Identifying the cause of a criminal act, biological or otherwise, does not necessarily preclude moral or legal liability. However, valid scientific evidence of an inherited proclivity sometimes should be considered when evaluating whether a defendant is less morally culpable for a crime and perhaps less deserving of punishment. This Note proposes a two-pronged test to understand whether and when neurogenetic evidence should be considered to potentially mitigate an individual's culpability for criminal behavior. The first prong normatively assesses whether a defendant meets a threshold of having meaningfully managed his risk of harming others based on what he knew, or should have known, about his own proclivities to violence. The second prong considers the admissibility of the evidence based on whether the specific neurogenetic proclivity claimed by the defendant is relevant and adequately supported by science so as to be reliable. This proposed two-pronged test, beginning with an ethical threshold and followed by a scientific hurdle, can help judges and juries establish when to accept arguments for neurogenetic mitigation at sentencing, and when to reject them.

  19. A neurogenetics approach to understanding individual differences in brain, behavior, and risk for psychopathology.

    Science.gov (United States)

    Bogdan, R; Hyde, L W; Hariri, A R

    2013-03-01

    Neurogenetics research has begun to advance our understanding of how genetic variation gives rise to individual differences in brain function, which, in turn, shapes behavior and risk for psychopathology. Despite these advancements, neurogenetics research is currently confronted by three major challenges: (1) conducting research on individual variables with small effects, (2) absence of detailed mechanisms, and (3) a need to translate findings toward greater clinical relevance. In this review, we showcase techniques and developments that address these challenges and highlight the benefits of a neurogenetics approach to understanding brain, behavior and psychopathology. To address the challenge of small effects, we explore approaches including incorporating the environment, modeling epistatic relationships and using multilocus profiles. To address the challenge of mechanism, we explore how non-human animal research, epigenetics research and genome-wide association studies can inform our mechanistic understanding of behaviorally relevant brain function. Finally, to address the challenge of clinical relevance, we examine how neurogenetics research can identify novel therapeutic targets and for whom treatments work best. By addressing these challenges, neurogenetics research is poised to exponentially increase our understanding of how genetic variation interacts with the environment to shape the brain, behavior and risk for psychopathology.

  20. [Investigation of Genetic Etiology in Neurodegenerative Dementias: Recommendations from the Centro Hospitalar São João Neurogenetics Group].

    Science.gov (United States)

    Massano, João; Leão, Miguel; Garrett, Carolina

    2016-10-01

    In the past few years several gene mutations have been identified as causative of the most frequent neurodegenerative dementias (Alzheimer disease and frontotemporal dementia). These advances, along with the complex phenotype-genotype relationships and the costs associated with genetic testing, have often made it difficult for clinicians to decide with regard to a rational plan for the investigation of the genetic etiology of the degenerative dementias. The Centro Hospitalar São João Neurogenetics Group, a multidisciplinary team of Neurologists and Geneticists with special interest in neurogenetic disorders, devised consensus recommendations for the investigation of the genetic etiology of Alzheimer disease and frontotemporal dementia in clinical practice, based on international consensus documents (currently containing partly outdated information) and published scientific evidence on this topic. Alzheimer disease may be caused by mutations in PSEN1, PSEN2 and APP. APOE genotyping is not recommended for the diagnostic or genetic counseling purposes in Alzheimer disease. Frontotemporal dementia may be caused by mutations in several genes such as c9orf72, PGRN, MAPT, TBK1, VCP, SQSTM1, and UBQLN2. This paper pragmatically approaches the process of genetic diagnosis in Alzheimer disease and frontotemporal dementia, with specific recommendations for both disorders.

  1. Assessment of Genetics Knowledge and Skills in Medical Students: Insight for a Clinical Neurogenetics Curriculum

    Science.gov (United States)

    Pearl, Phillip L.; Pettiford, Jennifer M.; Combs, Susan E.; Heffron, Ari; Healton, Sean; Hovaguimian, Alexandra; Macri, Charles J.

    2011-01-01

    The pace of discovery in biochemistry and genetics and its effect on clinical medicine places new curricular challenges in medical school education. We sought to evaluate students' understanding of neurogenetics and its clinical applications to design a pilot curriculum into the clinical neurology clerkship. We utilized a needs assessment and a…

  2. A Comparative Study of Educational Provision for Children with Neurogenetic Syndromes: Parent and Teacher Survey

    Science.gov (United States)

    Reilly, C.; Senior, J.; Murtagh, L.

    2015-01-01

    Background: A number of neurogenetic syndromes have a high association with special educational needs including fragile X syndrome (FXS), Prader-Willi syndrome (PWS), Williams syndrome (WS) and Velo-Cardio-Facial syndrome (VCFS). There is a paucity of research on educational provision for children affected by these syndromes. Method: Parents…

  3. Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization

    Directory of Open Access Journals (Sweden)

    Frías Á

    2015-08-01

    Full Text Available Álvaro Frías,1,2 Carol Palma,1,2 Núria Farriols,1,2 Laura González2 1FPCEE Blanquerna, Universitat Ramon Llull, Barcelona, 2Adult Outpatient Mental Health Center, Hospital de Mataró – CSdM, Mataró, Spain Background: With the advent of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders, body dysmorphic disorder (BDD has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD category. Objective: We aimed to determine the empirical evidence regarding the potential relationship between BDD and obsessive-compulsive disorder (OCD based on the prevalence data, etiopathogenic pathways, and clinical characterization of patients with both disorders. Method: A comprehensive search of databases (PubMed and PsycINFO was performed. Published manuscripts between 1985 and May 2015 were identified. Overall, 53 studies fulfilled inclusion criteria. Results: Lifetime comorbidity rates of BDD–OCD are almost three times higher in samples with a primary diagnosis of BDD than those with primary OCD (27.5% vs 10.4%. However, other mental disorders, such as social phobia or major mood depression, are more likely among both types of psychiatric samples. Empirical evidence regarding the etiopathogenic pathways for BDD–OCD comorbidity is still inconclusive, whether concerning common shared features or one disorder as a risk factor for the other. Specifically, current findings concerning third variables show more divergences than similarities when comparing both disorders. Preliminary data on the clinical characterization of the patients with BDD and OCD indicate that the deleterious clinical impact of BDD in OCD patients is greater than vice versa. Conclusion: Despite the recent inclusion of BDD within the OCDRD, data from comparative studies between BDD and OCD need further evidence for supporting this nosological approach. To better define this issue, comparative studies between BDD, OCD, and social phobia

  4. Comorbidity between obsessive-compulsive disorder and body dysmorphic disorder: prevalence, explanatory theories, and clinical characterization

    Science.gov (United States)

    Frías, Álvaro; Palma, Carol; Farriols, Núria; González, Laura

    2015-01-01

    Background With the advent of the fifth edition of Diagnostic and Statistical Manual of Mental Disorders, body dysmorphic disorder (BDD) has been subsumed into the obsessive-compulsive disorders and related disorders (OCDRD) category. Objective We aimed to determine the empirical evidence regarding the potential relationship between BDD and obsessive-compulsive disorder (OCD) based on the prevalence data, etiopathogenic pathways, and clinical characterization of patients with both disorders. Method A comprehensive search of databases (PubMed and PsycINFO) was performed. Published manuscripts between 1985 and May 2015 were identified. Overall, 53 studies fulfilled inclusion criteria. Results Lifetime comorbidity rates of BDD–OCD are almost three times higher in samples with a primary diagnosis of BDD than those with primary OCD (27.5% vs 10.4%). However, other mental disorders, such as social phobia or major mood depression, are more likely among both types of psychiatric samples. Empirical evidence regarding the etiopathogenic pathways for BDD–OCD comorbidity is still inconclusive, whether concerning common shared features or one disorder as a risk factor for the other. Specifically, current findings concerning third variables show more divergences than similarities when comparing both disorders. Preliminary data on the clinical characterization of the patients with BDD and OCD indicate that the deleterious clinical impact of BDD in OCD patients is greater than vice versa. Conclusion Despite the recent inclusion of BDD within the OCDRD, data from comparative studies between BDD and OCD need further evidence for supporting this nosological approach. To better define this issue, comparative studies between BDD, OCD, and social phobia should be carried out. PMID:26345330

  5. [How to characterize and treat sleep complaints in bipolar disorders?

    Science.gov (United States)

    Geoffroy, P A; Micoulaud Franchi, J-A; Lopez, R; Poirot, I; Brion, A; Royant-Parola, S; Etain, B

    2017-08-01

    Sleep complaints are very common in bipolar disorders (BD) both during acute phases (manic and depressive episodes) and remission (about 80 % of patients with remitted BD have poor sleep quality). Sleep complaints during remission are of particular importance since they are associated with more mood relapses and worse outcomes. In this context, this review discusses the characterization and treatment of sleep complaints in BD. We examined the international scientific literature in June 2016 and performed a literature search with PubMed electronic database using the following headings: "bipolar disorder" and ("sleep" or "insomnia" or "hypersomnia" or "circadian" or "apnoea" or "apnea" or "restless legs"). Patients with BD suffer from sleep and circadian rhythm abnormalities during major depressive episodes (insomnia or hypersomnia, nightmares, nocturnal and/or early awakenings, non-restorative sleep) and manic episodes (insomnia, decreased need for sleep without fatigue), but also some of these abnormalities may persist during remission. These remission phases are characterized by a reduced quality and quantity of sleep, with a longer sleep duration, increased sleep latency, a lengthening of the wake time after sleep onset (WASO), a decrease of sleep efficiency, and greater variability in sleep/wake rhythms. Patients also present frequent sleep comorbidities: chronic insomnia, sleepiness, sleep phase delay syndrome, obstructive sleep apnea/hypopnea syndrome (OSAHS), and restless legs syndrome (RLS). These disorders are insufficiently diagnosed and treated whereas they are associated with mood relapses, treatment resistance, affect cognitive global functioning, reduce the quality of life, and contribute to weight gain or metabolic syndrome. Sleep and circadian rhythm abnormalities have been also associated with suicidal behaviors. Therefore, a clinical exploration with characterization of these abnormalities and disorders is essential. This exploration should be

  6. Characterizing somatization, hypochondriasis, and hysteria in the borderline personality disorder.

    Science.gov (United States)

    Snyder, S; Pitts, W M

    1986-03-01

    Somatization, hypochondriasis, and hysteria have often been considered as associated features of the borderline personality disorder. This study was designed to characterize these three syndromes in the borderline patient. Inpatients with DSM-III borderline personality disorder were compared with controls with dysthymic disorder. Scales and items from standardized rating instruments which measured the three syndromes were scored and compared between groups. Although the hysteria-obvious and hypochondriasis scales of the MMPI and the Hamilton Depression Scale item measuring hypochondriasis were elevated in the borderline group, there were no significant differences between groups. Scores of dysthymic patients significantly exceeded those of borderline patients on four of five MMPI codetypes measuring the three syndromes. Findings are discussed in light of previous psychodynamic, empirical, and research literature.

  7. NEUROGENETIC ASPECTS OF PERINATAL HYPOXIC-ISCHEMIC AFFECTIONS OF THE CENTRAL NERVOUS SYSTEM

    Directory of Open Access Journals (Sweden)

    George A. Karkashadze

    2016-01-01

    Full Text Available Neurogenetics is a thriving young science greatly contributing to the generally accepted concept of the brain development in health and disease. Thereby; scientists are not only able to highlight new key points in traditional ideas about the origin of diseases; but also to completely rethink their view on the problem of pathology development. In particular; new data on neurogenetics of perinatal affections of the central nervous system (CNS has appeared. Genetic factors in varying degrees affect perinatal hypoxic-ischemic CNS affections. Prematurity determination stays the most studied among them. Nevertheless; there is increasing evidence of significant epigenetic regulations of neuro-expression caused by hypoxia; malnutrition of a pregnant woman; stress; smoking; alcohol; drugs that either directly pathologically affect the developing brain; or form a brain phenotype sensitive to a perinatal CNS affection. New data obliges to change the approaches to prevention of perinatal CNS affections.

  8. Neurogenetic Impairments of Brain Reward Circuitry Links to Reward Deficiency Syndrome (RDS): Potential Nutrigenomic Induced Dopaminergic Activation

    Science.gov (United States)

    Blum, K; Oscar-Berman, M; Giordano, J; Downs, BW; Simpatico, T; Han, D; Femino, John

    2012-01-01

    Work from our laboratory in both in-patient and outpatient facilities utilizing the Comprehensive Analysis of Reported Drugs (CARD)™ found a significant lack of compliance to prescribed treatment medications and a lack of abstinence from drugs of abuse during active recovery. This unpublished, ongoing research provides an impetus to develop accurate genetic diagnosis and holistic approaches that will safely activate brain reward circuitry in the mesolimbic dopamine system. This editorial focuses on the neurogenetics of brain reward systems with particular reference to genes related to dopaminergic function. The terminology “Reward Deficiency Syndrome” (RDS), used to describe behaviors found to have an association with gene-based hypodopaminergic function, is a useful concept to help expand our understanding of Substance Use Disorder (SUD), process addictions, and other obsessive, compulsive and impulsive behaviors. This editorial covers the neurological basis of pleasure and the role of natural and unnatural reward in motivating and reinforcing behaviors. Additionally, it briefly describes the concept of natural dopamine D2 receptor agonist therapy coupled with genetic testing of a panel of reward genes, the Genetic Addiction Risk Score (GARS). It serves as a spring-board for this combination of novel approaches to the prevention and treatment of RDS that was developed from fundamental genomic research. We encourage further required studies. PMID:23264886

  9. Yoshiki Hotta and the dawn of zebrafish molecular neurogenetics in Japan.

    Science.gov (United States)

    Higashijima, Shin-Ichi; Okamoto, Hitoshi

    2012-03-01

    Abstract: After coming back to Japan to work in the Department of Physics at the University of Tokyo, Yoshiki Hotta spent a year or so on searching for behavioral mutants of goldfish. Although this endeavor did not succeed, he remained an adamant supporter of the development of zebrafish research in Japan. Here we review how his support helped zebrafish neurogenetics in Japan gain a unique position in the world research community.

  10. Neurogenetic and morphogenetic heterogeneity in the bed nucleus of the stria terminalis

    International Nuclear Information System (INIS)

    Bayer, S.A.

    1987-01-01

    Neurogenesis and morphogenesis in the rat bed nucleus of the stria terminalis (strial bed nucleus) were examined with [ 3 H]thymidine autoradiography. For neurogenesis, the experimental animals were the offspring of pregnant females given an injection of [ 3 H]thymidine on 2 consecutive gestational days. Nine groups of embryos were exposed to [ 3 H]thymidine on E13-E14, E14-E15,... E21-E22, respectively. On P60, the percentage of labeled cells and the proportion of cells originating during 24-hour periods were quantified at six anteroposterior levels in the strial bed nucleus. On the basis of neurogenetic gradients, the strial bed nucleus was divided into anterior and posterior parts. The anterior strial bed nucleus shows a caudal (older) to rostral (younger) neurogenetic gradient. Cells in the vicinity of the anterior commissural decussation are generated mainly between E13 and E16, cells just posterior to the nucleus accumbens mainly between E15 and E17. Within each rostrocaudal level, neurons originate in combined dorsal to ventral and medial to lateral neurogenetic gradients so that the oldest cells are located ventromedially and the youngest cells dorsolaterally. The most caudal level has some small neurons adjacent to the internal capsule that originate between E17 and E20. In the posterior strial bed nucleus, neurons extend ventromedially into the posterior preoptic area. Cells are generated simultaneously along the rostrocaudal plane in a modified lateral (older) to medial (younger) neurogenetic gradient. Ventrolateral neurons originate mainly between E13 and E16, dorsolateral neurons mainly between E15 and E16, and medial neurons mainly between E15 and E17. The youngest neurons are clumped into a medial core area just ventral to the fornix

  11. Clinical neurogenetics: fragile x-associated tremor/ataxia syndrome.

    Science.gov (United States)

    Hall, Deborah A; O'Keefe, Joan A

    2013-11-01

    This article summarizes the clinical findings, genetics, pathophysiology, and treatment of fragile X-associated tremor ataxia syndrome. The disorder occurs from a CGG repeat (55-200) expansion in the fragile X mental retardation 1 gene. It manifests clinically in kinetic tremor, gait ataxia, and executive dysfunction, usually in older men who carry the genetic abnormality. The disorder has distinct radiographic and pathologic findings. Symptomatic treatment is beneficial in some patients. The inheritance is X-linked and family members may be at risk for other fragile X-associated disorders. This information is useful to neurologists, general practitioners, and geneticists. Copyright © 2013. Published by Elsevier Inc.

  12. Electroencephalographic characterization of subgroups of children with learning disorders.

    Directory of Open Access Journals (Sweden)

    Milene Roca-Stappung

    Full Text Available Electroencephalographic alterations have been reported in subjects with learning disorders, but there is no consensus on what characterizes their electroencephalogram findings. Our objective was to determine if there were subgroups within a group of scholars with not otherwise specified learning disorders and if they had specific electroencephalographic patterns. Eighty-five subjects (31 female, 8-11 years who scored low in at least two subscales -reading, writing and arithmetic- of the Infant Neuropsychological Evaluation were included. Electroencephalograms were recorded in 19 leads during rest with eyes closed; absolute power was obtained every 0.39 Hz. Three subgroups were formed according to children's performance: Group 1 (G1, higher scores than Group 2 in reading speed and reading and writing accuracy, Group 2 (G2, better performance than G1 in composition and Group 3 (G3, lower scores than Groups 1 and 2 in the three subscales. G3 had higher absolute power in frequencies in the delta and theta range at left frontotemporal sites than G1 and G2. G2 had higher absolute power within alpha frequencies than G3 and G1 at the left occipital site. G3 had higher absolute power in frequencies in the beta range than G1 in parietotemporal areas and than G2 in left frontopolar and temporal sites. G1 had higher absolute power within beta frequencies than G2 in the left frontopolar site. G3 had lower gamma absolute power values than the other groups in the left hemisphere, and gamma activity was higher in G1 than in G2 in frontopolar and temporal areas. This group of children with learning disorders is very heterogeneous. Three subgroups were found with different cognitive profiles, as well as a different electroencephalographic pattern. It is important to consider these differences when planning interventions for children with learning disorders.

  13. A Neuro-genetic Based Short-term Forecasting Framework for Network Intrusion Prediction System

    Institute of Scientific and Technical Information of China (English)

    Siva S. Sivatha Sindhu; S. Geetha; M. Marikannan; A. Kannan

    2009-01-01

    Information systems are one of the most rapidly changing and vulnerable systems, where security is a major issue. The number of security-breaking attempts originating inside organizations is increasing steadily. Attacks made in this way, usually done by "authorized" users of the system, cannot be immediately traced. Because the idea of filtering the traffic at the entrance door, by using firewalls and the like, is not completely successful, the use of intrusion detection systems should be considered to increase the defense capacity of an information system. An intrusion detection system (IDS) is usually working in a dynamically changing environment, which forces continuous tuning of the intrusion detection model, in order to maintain sufficient performance. The manual tuning process required by current IDS depends on the system operators in working out the tuning solution and in integrating it into the detection model. Furthermore, an extensive effort is required to tackle the newly evolving attacks and a deep study is necessary to categorize it into the respective classes. To reduce this dependence, an automatically evolving anomaly IDS using neuro-genetic algorithm is presented. The proposed system automatically tunes the detection model on the fly according to the feedback provided by the system operator when false predictions are encountered. The system has been evaluated using the Knowledge Discovery in Databases Conference (KDD 2009) intrusion detection dataset. Genetic paradigm is employed to choose the predominant features, which reveal the occurrence of intrusions. The neuro-genetic IDS (NGIDS) involves calculation of weightage value for each of the categorical attributes so that data of uniform representation can be processed by the neuro-genetic algorithm. In this system unauthorized invasion of a user are identified and newer types of attacks are sensed and classified respectively by the neuro-genetic algorithm. The experimental results obtained in this

  14. A BRIEF INTRODUCTION TO THE NEUROGENETICS OF COGNITION-EMOTION INTERACTIONS.

    Science.gov (United States)

    Scult, Matthew A; Hariri, Ahmad R

    2018-02-01

    Neuroscience research has demonstrated that cognition, emotion, and their dynamic interactions emerge from complex and flexible patterns of activity across distributed neural circuits. A parallel branch of research in genetics has begun to identify common variation in the human DNA sequence (i.e., genome) that may shape individual differences in cognition-emotion interactions by altering molecular and cellular pathways that modulate the activity of these neural circuits. Here we provide a brief introduction to such neurogenetics research and how it may usefully inform our understanding of the biological mechanisms through which dynamic cognition-emotion interactions emerge and, subsequently, help shape normal and abnormal behavior.

  15. Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders.

    NARCIS (Netherlands)

    Festen, D.A.M.; Wevers, M.; Weerd, A.W. de; Bossche, R.A. van den; Duivenvoorden, H.J.; Otten, B.J.; Wit, J.M.; Hokken-Koelega, A.C.S.

    2007-01-01

    Prader-Willi syndrome (PWS) is a neurogenetic disorder with hypotonia, psychomotor delay, obesity, short stature, and sleep-related breathing disorders. The aim of this study was to evaluate the association between psychomotor development and sleep-related breathing disorders in PWS infants. Bayley

  16. Clinical neurogenetics: recent advances in the genetics of epilepsy.

    Science.gov (United States)

    Coorg, Rohini; Weisenberg, Judith L Z; Wong, Michael

    2013-11-01

    Epilepsy represents a diverse group of disorders with primary and secondary genetic etiologies, as well as non-genetic causes. As more causative genes are identified, genetic testing is becoming increasingly important in the evaluation and management of epilepsy. This article outlines the clinical approach to epilepsy patients, with emphasis on genetic testing. Specific targeted tests are available for numerous individual genetic causes of epilepsy. Broader screening tests, such as chromosome microarray analysis and whole exome sequencing, have also been developed. As a standardized protocol for genetic testing has not been established, individualized diagnostic approaches to epilepsy patients should be used. Copyright © 2013 Elsevier Inc. All rights reserved.

  17. Hypersexuality Addiction and Withdrawal: Phenomenology, Neurogenetics and Epigenetics.

    Science.gov (United States)

    Blum, Kenneth; Badgaiyan, Rajendra D; Gold, Mark S

    2015-10-12

    Hypersexuality has been defined as abnormally increased sexual activity. Epidemiological and clinical studies have shown that this non-paraphilic condition consists of "excessive" sexual behaviors and disorders accompanied by personal distress and social and medical morbidity. It is a very controversial and political topic in terms of how best to categorize it as similar or not similar to addictive behaviors including substance abuse. Hypersexual disorder is conceptualized as a non-paraphilic sexual desire disorder with impulsivity. Pathophysiological perspectives include dysregulation of sexual arousal and desire, sexual impulsivity, and sexual compulsivity. The nucleus accumbens, situated within the ventral striatum, mediates the reinforcing effects of drugs of abuse, such as cocaine, alcohol, nicotine, and food as well as music. Indeed, it is believed that this structure mandates behaviors elicited by incentive stimuli. These behaviors include natural rewards like feeding, drinking, sexual behavior, and exploratory locomotion. An essential rule of positive reinforcement is that motor responses will increase in magnitude and vigor if followed by a rewarding event. Here, we are hypothesizing that there is a common mechanism of action (MOA) for the powerful effects drugs, music, food, and sex have on human motivation. The human drive for the three necessary motivational behaviors "hunger, thirst, and sex" may all have common molecular genetic antecedents that, if impaired, lead to aberrant behaviors. We hypothesize that based on a plethora of scientific support hypersexual activity is indeed like drugs, food, and music that activate brain mesolimbic reward circuitry. Moreover, dopaminergic gene and possibly other candidate neurotransmitter-related gene polymorphisms affect both hedonic and anhedonic behavioral outcomes. There is little known about both the genetics and epigenetics of hypersexuality in the current literature. However, we anticipate that future

  18. Neurogenetic effects on cognition in aging brains: A window of opportunity for intervention?

    Directory of Open Access Journals (Sweden)

    Ivar Reinvang

    2010-11-01

    Full Text Available Knowledge of genetic influences on cognitive aging can constrain and guide interventions aimed at limiting age-related cognitive decline in older adults. Progress in understanding the neural basis of cognitive aging also requires a better understanding of the neurogenetics of cognition. This selective review article describes studies aimed at deriving specific neurogenetic information from three parallel and interrelated phenotype based approaches: psychometric constructs, cognitive neuroscience based processing measures, and brain imaging morphometric data. Developments in newer genetic analysis tools, including genome wide association, are also described. In particular, we focus on models for establishing genotype-phenotype associations within an explanatory framework linking molecular, brain, and cognitive levels of analysis. Such multiple-phenotype approaches indicate that individual variation in genes central to maintaining synaptic integrity, neurotransmitter function, and synaptic plasticity are important in affecting age-related changes in brain structure and cognition. Investigating phenotypes at multiple levels is recommended as a means to advance understanding of the neural impact of genetic variants relevant to cognitive aging. Further knowledge regarding the mechanisms of interaction between genetic and preventative procedures will in turn help in understanding the ameliorative effect of various experiential and lifestyle factors on age-related cognitive decline.

  19. Cre-Lox Neurogenetics: 20 Years of Versatile Applications in Brain Research and Counting….

    Science.gov (United States)

    Tsien, Joe Z

    2016-01-01

    Defining and manipulating specific neurons in the brain has garnered enormous interest in recent years, because such an approach is now widely recognized as crucial for deepening our understanding of how the brain works. When I started exploring the Cre-loxP recombination for brain research in the early 1990s, it was written off as a dead-end project by a young fool. Yet over the past 20 years, Cre-lox recombination-mediated neurogenetics has emerged as one of the most powerful and versatile technology platforms for cell-specific gene knockouts, transgenic overexpression, Brainbow imaging, neural pathway tracing with retrovirus and CLARITY, chemical genetics, and optogenetics. Its popularity and greater utility in neuroscience research is also largely thanks to the NIH's bold Blueprint for Neuroscience Research Initiative to launch several Cre-driver resource projects, as well as individual laboratories and private research organizations. With newly-discovered, genetically-encoded molecules that are capable of responding to sonar and magnetic stimulation, for sonogenetics or magnetogenetics, respectively, or detecting rapid voltage changes in neurons, Cre-lox neurogenetics will continue to aid brain research for years to come.

  20. A neurogenetic dissociation between punishment-, reward- and relief-learning in Drosophila

    Directory of Open Access Journals (Sweden)

    ayse Yarali

    2010-12-01

    Full Text Available What is particularly worth remembering about a traumatic experience is what brought it about, and what made it cease. For example, fruit flies avoid an odour which during training had preceded electric shock punishment; on the other hand, if the odour had followed shock during training, it is later on approached as a signal for the relieving end of shock. We provide a neurogenetic analysis of such relief learning. Blocking, using UAS-shibirets1, the output from a particular set of dopaminergic neurons defined by the TH-Gal4 driver partially impaired punishment learning, but left relief learning intact. Thus, with respect to these particular neurons, relief learning differs from punishment learning. Targeting another set of dopaminergic/ serotonergic neurons defined by the DDC-Gal4 driver on the other hand affected neither punishment nor relief learning. As for the octopaminergic system, the tbhM18 mutation, compromising octopamine biosynthesis, partially impaired sugar-reward learning, but not relief learning. Thus, with respect to this particular mutation, relief learning and reward learning are dissociated. Finally, blocking output from the set of octopaminergic/ tyraminergic neurons defined by the TDC2-Gal4 driver affected neither reward, nor relief learning. We conclude that regarding the used genetic tools, relief learning is neurogenetically dissociated from both punishment and reward learning.

  1. Mechanical characterization of disordered and anisotropic cellular monolayers

    Science.gov (United States)

    Nestor-Bergmann, Alexander; Johns, Emma; Woolner, Sarah; Jensen, Oliver E.

    2018-05-01

    We consider a cellular monolayer, described using a vertex-based model, for which cells form a spatially disordered array of convex polygons that tile the plane. Equilibrium cell configurations are assumed to minimize a global energy defined in terms of cell areas and perimeters; energy is dissipated via dynamic area and length changes, as well as cell neighbor exchanges. The model captures our observations of an epithelium from a Xenopus embryo showing that uniaxial stretching induces spatial ordering, with cells under net tension (compression) tending to align with (against) the direction of stretch, but with the stress remaining heterogeneous at the single-cell level. We use the vertex model to derive the linearized relation between tissue-level stress, strain, and strain rate about a deformed base state, which can be used to characterize the tissue's anisotropic mechanical properties; expressions for viscoelastic tissue moduli are given as direct sums over cells. When the base state is isotropic, the model predicts that tissue properties can be tuned to a regime with high elastic shear resistance but low resistance to area changes, or vice versa.

  2. Neurogenetics of Drosophila circadian clock: expect the unexpected.

    Science.gov (United States)

    Jarabo, Patricia; Martin, Francisco A

    2017-12-01

    Daily biological rhythms (i.e. circadian) are a fundamental part of animal behavior. Numerous reports have shown disruptions of the biological clock in neurodegenerative disorders and cancer. In the latter case, only recently we have gained insight into the molecular mechanisms. After 45 years of intense study of the circadian rhtythms, we find surprising similarities among species on the molecular clock that governs biological rhythms. Indeed, Drosophila is one of the most widely used models in the study of chronobiology. Recent studies in the fruit fly have revealed unpredicted roles for the clock machinery in different aspects of behavior and physiology. Not only the central pacemaker cells do have non-classical circadian functions but also circadian genes work in other cells and tissues different from central clock neurons. In this review, we summarize these new evidences. We also recapitulate the most basic features of Drosophila circadian clock, including recent data about the inputs and outputs that connect the central pacemaker with other regions of the brain. Finally, we discuss the advantages and drawbacks of using natural versus laboratory conditions.

  3. [Neurogenetics of emotional processes. Neuroimaging findings as endophenotypes for depression].

    Science.gov (United States)

    Dannlowski, U; Konrad, C; Arolt, V; Suslow, T

    2010-01-01

    Major depression is one of the most frequent and serious psychiatric diseases. Although the disease is highly heritable, the search for candidate genes has been of limited success hitherto. The complex, polygenetic hereditary transmissions coding for heterogeneous, clinically defined phenotypes such as major depression may be better identified using the endophenotype approach. A recent study, reporting an association of the risk allele in a serotonin transporter polymorphism (5-HTTLPR) with increased amygdala responsiveness to aversive stimuli, stimulated the new research field of imaging genetics, which is characterized by the choice of neurobiological activity patterns as endophenotypes. This review discusses recent studies from this rapidly growing research field, focussing on genetic effects on cortico-limbic circuitries during emotion processing. Evidence is reviewed suggesting that potential risk-alleles for depression are associated with functional cortico-limbic abnormalities, which frequently occur in patients with major depression.

  4. On the other hand: including left-handers in cognitive neuroscience and neurogenetics.

    Science.gov (United States)

    Willems, Roel M; Van der Haegen, Lise; Fisher, Simon E; Francks, Clyde

    2014-03-01

    Left-handers are often excluded from study cohorts in neuroscience and neurogenetics in order to reduce variance in the data. However, recent investigations have shown that the inclusion or targeted recruitment of left-handers can be informative in studies on a range of topics, such as cerebral lateralization and the genetic underpinning of asymmetrical brain development. Left-handed individuals represent a substantial portion of the human population and therefore left-handedness falls within the normal range of human diversity; thus, it is important to account for this variation in our understanding of brain functioning. We call for neuroscientists and neurogeneticists to recognize the potential of studying this often-discarded group of research subjects.

  5. Simvastatin Attenuates Neurogenetic Damage and Improves Neurocongnitive Deficits Induced by Isoflurane in Neonatal Rats

    Directory of Open Access Journals (Sweden)

    Ning Wang

    2018-03-01

    Full Text Available Background/Aims: Isoflurane inhibited neurogenesis and induced subsequent neurocognitive deficits in developing brain. Simvastatin exerts neuroprotection in a wide range of brain injury models. In the present study, we investigated whether simvastatin could attenuate neurogenetic inhibition and cognitive deficits induced by isoflurane exposure in neonatal rats. Methods: Sprague-Dawley rats at postnatal day (PND 7 and neural stem cells (NSCs were treated with either gas mixture, isoflurane, or simvastatin 60 min prior to isoflurane exposure, respectively. The rats were decapitated at PND 8 and PND 10 for detection of neurogenesis in the subventricular zone (SVZ and subgranular zone (SGZ of the hippocampus by immunostaining. NSC proliferation, viability and apoptosis were assessed by immunohistochemistry, CCK-8 and TUNEL, respectively. The protein expressions of caspase-3, p-Akt and p-GSK-3β both in vivo and vitro were assessed by western blotting. Cognitive functions were assessed by Morris Water Maze test and context fear conditioning test at the adult. Results: Isoflurane exposure inhibited neurogenesis in the SVZ and SGZ, decreased NSC proliferation and viability, promoted NSC apoptosis and led to late cognitive deficits. Furthermore, isoflurane increased caspase-3 expression and decreased protein expressions of p-Akt and p-GSK-3β both in vivo and in vitro. Pretreatment with simvastatin attenuated isoflurane-elicited changes in NSCs and cognitive function. Co-treatment with LY294002 reversed the effect of simvastatin on NSCs in vitro. Conclusion: We for the first time showed that simvastatin, by upregulating Akt/GSK-3β signaling pathway, alleviated isoflurane-induced neurogenetic damage and neurocognitive deficits in developing rat brain.

  6. Neurogenetics and Nutrigenomics of Neuro-Nutrient Therapy for Reward Deficiency Syndrome (RDS): Clinical Ramifications as a Function of Molecular Neurobiological Mechanisms

    Science.gov (United States)

    Blum, Kenneth; Oscar-Berman, Marlene; Stuller, Elizabeth; Miller, David; Giordano, John; Morse, Siobhan; McCormick, Lee; Downs, William B; Waite, Roger L; Barh, Debmalya; Neal, Dennis; Braverman, Eric R; Lohmann, Raquel; Borsten, Joan; Hauser, Mary; Han, David; Liu, Yijun; Helman, Manya; Simpatico, Thomas

    2013-01-01

    In accord with the new definition of addiction published by American Society of Addiction Medicine (ASAM) it is well-known that individuals who present to a treatment center involved in chemical dependency or other documented reward dependence behaviors have impaired brain reward circuitry. They have hypodopaminergic function due to genetic and/or environmental negative pressures upon the reward neuro-circuitry. This impairment leads to aberrant craving behavior and other behaviors such as Substance Use Disorder (SUD). Neurogenetic research in both animal and humans revealed that there is a well-defined cascade in the reward site of the brain that leads to normal dopamine release. This cascade has been termed the “Brain Reward Cascade” (BRC). Any impairment due to either genetics or environmental influences on this cascade will result in a reduced amount of dopamine release in the brain reward site. Manipulation of the BRC has been successfully achieved with neuro-nutrient therapy utilizing nutrigenomic principles. After over four decades of development, neuro-nutrient therapy has provided important clinical benefits when appropriately utilized. This is a review, with some illustrative case histories from a number of addiction professionals, of certain molecular neurobiological mechanisms which if ignored may lead to clinical complications. PMID:23926462

  7. Neurogenetics and Nutrigenomics of Neuro-Nutrient Therapy for Reward Deficiency Syndrome (RDS): Clinical Ramifications as a Function of Molecular Neurobiological Mechanisms.

    Science.gov (United States)

    Blum, Kenneth; Oscar-Berman, Marlene; Stuller, Elizabeth; Miller, David; Giordano, John; Morse, Siobhan; McCormick, Lee; Downs, William B; Waite, Roger L; Barh, Debmalya; Neal, Dennis; Braverman, Eric R; Lohmann, Raquel; Borsten, Joan; Hauser, Mary; Han, David; Liu, Yijun; Helman, Manya; Simpatico, Thomas

    2012-11-27

    In accord with the new definition of addiction published by American Society of Addiction Medicine (ASAM) it is well-known that individuals who present to a treatment center involved in chemical dependency or other documented reward dependence behaviors have impaired brain reward circuitry. They have hypodopaminergic function due to genetic and/or environmental negative pressures upon the reward neuro-circuitry. This impairment leads to aberrant craving behavior and other behaviors such as Substance Use Disorder (SUD). Neurogenetic research in both animal and humans revealed that there is a well-defined cascade in the reward site of the brain that leads to normal dopamine release. This cascade has been termed the "Brain Reward Cascade" (BRC). Any impairment due to either genetics or environmental influences on this cascade will result in a reduced amount of dopamine release in the brain reward site. Manipulation of the BRC has been successfully achieved with neuro-nutrient therapy utilizing nutrigenomic principles. After over four decades of development, neuro-nutrient therapy has provided important clinical benefits when appropriately utilized. This is a review, with some illustrative case histories from a number of addiction professionals, of certain molecular neurobiological mechanisms which if ignored may lead to clinical complications.

  8. Characterizing Sleep in Adolescents and Adults with Autism Spectrum Disorders

    Science.gov (United States)

    Goldman, S. E.; Alder, M. L.; Burgess, H. J.; Corbett, B. A.; Hundley, R.; Wofford, D.; Fawkes, D. B.; Wang, L.; Laudenslager, M. L.; Malow, B. A.

    2017-01-01

    We studied 28 adolescents/young adults with autism spectrum disorders (ASD) and 13 age/sex matched individuals of typical development (TD). Structured sleep histories, validated questionnaires, actigraphy (4 weeks), and salivary cortisol and melatonin (4 days each) were collected. Compared to those with TD, adolescents/young adults with ASD had…

  9. Characterizing cognitive heterogeneity on the schizophrenia-bipolar disorder spectrum.

    Science.gov (United States)

    Van Rheenen, T E; Lewandowski, K E; Tan, E J; Ospina, L H; Ongur, D; Neill, E; Gurvich, C; Pantelis, C; Malhotra, A K; Rossell, S L; Burdick, K E

    2017-07-01

    Current group-average analysis suggests quantitative but not qualitative cognitive differences between schizophrenia (SZ) and bipolar disorder (BD). There is increasing recognition that cognitive within-group heterogeneity exists in both disorders, but it remains unclear as to whether between-group comparisons of performance in cognitive subgroups emerging from within each of these nosological categories uphold group-average findings. We addressed this by identifying cognitive subgroups in large samples of SZ and BD patients independently, and comparing their cognitive profiles. The utility of a cross-diagnostic clustering approach to understanding cognitive heterogeneity in these patients was also explored. Hierarchical clustering analyses were conducted using cognitive data from 1541 participants (SZ n = 564, BD n = 402, healthy control n = 575). Three qualitatively and quantitatively similar clusters emerged within each clinical group: a severely impaired cluster, a mild-moderately impaired cluster and a relatively intact cognitive cluster. A cross-diagnostic clustering solution also resulted in three subgroups and was superior in reducing cognitive heterogeneity compared with disorder clustering independently. Quantitative SZ-BD cognitive differences commonly seen using group averages did not hold when cognitive heterogeneity was factored into our sample. Members of each corresponding subgroup, irrespective of diagnosis, might be manifesting the outcome of differences in shared cognitive risk factors.

  10. Characterization of primary cutaneous CD8+/CD30+ lymphoproliferative disorders.

    Science.gov (United States)

    Martires, Kathryn J; Ra, Seong; Abdulla, Farah; Cassarino, David S

    2015-11-01

    CD30 primary cutaneous lymphoproliferative diseases include both lymphomatoid papulosis (LyP) and primary cutaneous anaplastic large cell lymphoma (PCALCL). The neoplastic cell of most primary CD30 lymphoproliferative disorders is CD4 positive. The terminology LyP "type D" has been used to describe a growing number of cases of LyP with a predominantly CD8 infiltrate. PCALCL with a CD8 phenotype has also been described, which presents a particularly difficult diagnostic and management challenge, given the difficulty in distinguishing it histologically from other cytotoxic lymphomas such as primary cutaneous aggressive epidermotropic CD8 cytotoxic T-cell lymphoma and CD8 gamma/delta and natural killer/T-cell lymphoma. We report 7 additional cases of these rare cutaneous CD8/CD30 lymphoproliferative disorders. We also present a unique case of CD8/CD30 LyP with histologic similarities to LyP type B. In all 7 of our cases of CD8 LyP and CD8 anaplastic large cell lymphoma, we found focal to diffuse MUM-1 positivity. We propose that MUM-1 may represent an adjunctive marker for CD8 lymphoproliferative disease. Finally, we review the current literature on cases of CD8 LyP and PCALCL. For the 106 cases examined, we found similar clinical and histologic features to those reported for traditional CD4CD30 LyP and PCALCL.

  11. Growth and characterization of GaInP unicompositional disorder-order-disorder quantum wells

    International Nuclear Information System (INIS)

    Schneider, R.P. Jr.; Jones, E.D.; Follstaedt, D.M.

    1994-01-01

    Metalorganic vapor phase epitaxy (MOVPE) is used to grow unicompositional quantum-well (QW) structures, in which the QW and barrier layers are composed of ordered and disordered GaInP, respectively. Transmission electron dark-field micrographs reveal abrupt interfaces between highly ordered QWs and disordered barriers, with no evidence of defect formation. Low-temperature photoluminescence from the structures exhibits relatively broad emission peaks, with emission energy increasing with decreasing QW thickness. The dependence of emission energy on well thickness can be described by a finite square well model only when a type-II band alignment is taken for the heterostructure, in which the conduction band edge of the ordered GaInP QW lies about 135--150 meV below that of the disordered barrier material. These results demonstrate a high degree of control over the ordering process in MOVPE, such that quantum size effects can be realized solely through disorder-order phenomena. Further, the data provide strong support for a type-II (spatially indirect) recombination transition between ordered and disordered GaInP

  12. Linking neurogenetics and individual differences in language learning: the dopamine hypothesis.

    Science.gov (United States)

    Wong, Patrick C M; Morgan-Short, Kara; Ettlinger, Marc; Zheng, Jing

    2012-10-01

    Fundamental advances in neuroscience have come from investigations into neuroplasticity and learning. These investigations often focus on identifying universal principles across different individuals of the same species. Increasingly, individual differences in learning success have also been observed, such that any seemingly universal principle might only be applicable to a certain extent within a particular learner. One potential source of this variation is individuals' genetic differences. Adult language learning provides a unique opportunity for understanding individual differences and genetic bases of neuroplasticity because of the large individual differences in learning success that have already been documented, and because of the body of empirical work connecting language learning and neurocognition. In this article, we review the literature on the genetic bases of neurocognition, especially studies examining polymorphisms of dopamine (DA)-related genes and procedural learning. This review leads us to hypothesize that there may be an association between DA-related genetic variation and language learning differences. If this hypothesis is supported by future empirical findings we suggest that it may point to neurogenetic markers that allow for language learning to be personalized. Copyright © 2012 Elsevier Srl. All rights reserved.

  13. Neurogenetics and gene therapy for reward deficiency syndrome: are we going to the Promised Land?

    Science.gov (United States)

    Blum, Kenneth; Thanos, Peter K; Badgaiyan, Rajendra D; Febo, Marcelo; Oscar-Berman, Marlene; Fratantonio, James; Demotrovics, Zsolt; Gold, Mark S

    2015-07-01

    Addiction is a substantial health issue with limited treatment options approved by the FDA and as such currently available. The advent of neuroimaging techniques that link neurochemical and neurogenetic mechanisms to the reward circuitry brain function provides a framework for potential genomic-based therapies. Through candidate and genome-wide association studies approaches, many gene polymorphisms and clusters have been implicated in drug, food and behavioral dependence linked by the common rubric reward deficiency syndrome (RDS). The results of selective studies that include the role of epigenetics, noncoding micro RNAs in RDS behaviors especially drug abuse involving alcohol, opioids, cocaine, nicotine, pain and feeding are reviewed in this article. New targets for addiction treatment and relapse prevention, treatment alternatives such as gene therapy in animal models, and pharmacogenomics and nutrigenomics methods to manipulate transcription and gene expression are explored. The recognition of the clinical benefit of early genetic testing to determine addiction risk stratification and dopaminergic agonistic, rather than antagonistic therapies are potentially the genomic-based wave of the future. In addition, further development, especially in gene transfer work and viral vector identification, could make gene therapy for RDS a possibility in the future.

  14. Trends in the Molecular Pathogenesis and Clinical Therapeutics of Common Neurodegenerative Disorders

    Directory of Open Access Journals (Sweden)

    Sibongile R. Sibambo

    2009-06-01

    Full Text Available The term neurodegenerative disorders, encompasses a variety of underlying conditions, sporadic and/or familial and are characterized by the persistent loss of neuronal subtypes. These disorders can disrupt molecular pathways, synapses, neuronal subpopulations and local circuits in specific brain regions, as well as higher-order neural networks. Abnormal network activities may result in a vicious cycle, further impairing the integrity and functions of neurons and synapses, for example, through aberrant excitation or inhibition. The most common neurodegenerative disorders are Alzheimer’s disease, Parkinson’s disease, Amyotrophic Lateral Sclerosis and Huntington’s disease. The molecular features of these disorders have been extensively researched and various unique neurotherapeutic interventions have been developed. However, there is an enormous coercion to integrate the existing knowledge in order to intensify the reliability with which neurodegenerative disorders can be diagnosed and treated. The objective of this review article is therefore to assimilate these disorders’ in terms of their neuropathology, neurogenetics, etiology, trends in pharmacological treatment, clinical management, and the use of innovative neurotherapeutic interventions.

  15. Radiological and clinical characterization of the lysosomal storage disorders: non-lipid disorders.

    Science.gov (United States)

    Parker, E I; Xing, M; Moreno-De-Luca, A; Harmouche, E; Terk, M R

    2014-01-01

    Lysosomal storage diseases (LSDs) are a large group of genetic metabolic disorders that result in the accumulation of abnormal material, such as mucopolysaccharides, glycoproteins, amino acids and lipids, within cells. Since many LSDs manifest during infancy or early childhood, with potentially devastating consequences if left untreated, timely identification is imperative to prevent irreversible damage and early death. In this review, the key imaging features of the non-lipid or extralipid LSDs are examined and correlated with salient clinical manifestations and genetic information. Disorders are stratified based on the type of excess material causing tissue or organ dysfunction, with descriptions of the mucopolysaccharidoses, mucolipidoses, alpha-mannosidosis, glycogen storage disorder II and cystinosis. In addition, similarities and differences in radiological findings between each of these LSDs are highlighted to facilitate further recognition. Given the rare and extensive nature of the LSDs, mastery of their multiple clinical and radiological traits may seem challenging. However, an understanding of the distinguishing imaging characteristics of LSDs and their clinical correlates may allow radiologists to play a key role in the early diagnosis of these progressive and potentially fatal disorders.

  16. Gene-Based Analysis of Regionally Enriched Cortical Genes in GWAS Data Sets of Cognitive Traits and Psychiatric Disorders

    DEFF Research Database (Denmark)

    Ersland, Kari M; Christoforou, Andrea; Stansberg, Christine

    2012-01-01

    the regionally enriched cortical genes to mine a genome-wide association study (GWAS) of the Norwegian Cognitive NeuroGenetics (NCNG) sample of healthy adults for association to nine psychometric tests measures. In addition, we explored GWAS data sets for the serious psychiatric disorders schizophrenia (SCZ) (n...

  17. Characterizing the Use of Telepsychiatry for Patients with Opioid Use Disorder and Cooccurring Mental Health Disorders in Ontario, Canada

    Directory of Open Access Journals (Sweden)

    Brittanie LaBelle

    2018-01-01

    Full Text Available Rural patients with opioid use disorder (OUD face a variety of barriers when accessing opioid agonist therapy (OAT and psychiatric services, due to the limited supply of physicians and the vast geographic area. The telemedicine allows for contact between patients and their physician—regardless of physical distance. Objective. We characterize the usage of telemedicine to deliver psychiatric services to patients with OUD in Ontario, as well as traits of treatment-seeking patients with opioid dependence and concurrent psychiatric disorders. Methodology. A retrospective cohort study was conducted using an administrative database for patients who received psychiatric services via telemedicine between 2008 and 2014 and who also had OUD. Results. We identified 9,077 patients with concurrent opioid use and other mental health disorders who had received psychiatric services via telemedicine from 2008 to 2014; 7,109 (78.3% patients lived in Southern Ontario and 1,968 (21.7% in Northern Ontario. Telemedicine was used more frequently to provide mental health services to patients residing in Northern Ontario than Southern Ontario. Conclusion. Telemedicine is increasingly being utilized throughout Ontario for delivering mental health treatment. There is an opportunity to increase access to psychiatric services for patients with opioid dependence and concurrent psychiatric disorders through the use of the telemedicine.

  18. Creatine Transporter Deficiency: Screening of Males with Neurodevelopmental Disorders and Neurocognitive Characterization of a Case.

    Science.gov (United States)

    Thurm, Audrey; Himelstein, Daniel; DʼSouza, Precilla; Rennert, Owen; Jiang, Susanqi; Olatunji, Damilola; Longo, Nicola; Pasquali, Marzia; Swedo, Susan; Salomons, Gajja S; Carrillo, Nuria

    2016-05-01

    Creatine transporter deficiency (CTD) is an X-linked, neurometabolic disorder associated with intellectual disability that is characterized by brain creatine (Cr) deficiency and caused by mutations in SLC6A8, the Cr transporter 1 protein gene. CTD is identified by elevated urine creatine/creatinine (Cr/Crn) ratio or reduced Cr peak on brain magnetic resonance spectroscopy; the diagnosis is confirmed by decreased Cr uptake in cultured fibroblasts, and/or identification of a mutation in the SLC6A8 gene. Prevalence studies suggest this disorder may be underdiagnosed. We sought to identify cases from a well-characterized cohort of children diagnosed with neurodevelopmental disorders. Urine screening for CTD was performed on a cohort of 46 males with autism spectrum disorder (ASD) and 9 males with a history of non-ASD developmental delay (DD) classified with intellectual disability. We identified 1 patient with CTD in the cohort based on abnormal urine Cr/Crn, and confirmed the diagnosis by the identification of a novel frameshift mutation in the SLC6A8 gene. This patient presented without ASD but with intellectual disability, and was characterized by a nonspecific phenotype of early language delay and DD that persisted into moderate-to-severe intellectual disability, consistent with previous descriptions of CTD. Identification of patients with CTD is possible by measuring urine Cr and Crn levels and the current case adds to the growing literature of neurocognitive deficits associated with the disorder that affect cognition, language and behavior in childhood.

  19. Posttraumatic Stress Disorder: Structural Characterization with 3-T MR Imaging.

    Science.gov (United States)

    Li, Shiguang; Huang, Xiaoqi; Li, Lingjiang; Du, Fei; Li, Jing; Bi, Feng; Lui, Su; Turner, Jessica A; Sweeney, John A; Gong, Qiyong

    2016-08-01

    Purpose To explore cerebral alterations related to the emergence of posttraumatic stress disorder (PTSD) by using three-dimensional T1-weighted imaging and also to explore the relationship of gray and white matter abnormalities and the anatomic changes with clinical severity and duration of time since the trauma. Materials and Methods Informed consent was provided, and the prospective study was approved by the ethics committee of the West China Hospital. Recruited were 67 patients with PTSD and 78 adult survivors without PTSD 7-15 months after a devastating earthquake in western China. All participants underwent magnetic resonance (MR) imaging with a 3-T imager to obtain anatomic images. Cortical thickness and volumes of 14 subcortical gray matter structures and five subregions of the corpus callosum were analyzed with software. Statistical differences between patients with PTSD and healthy survivors were evaluated with a general linear model. Averaged data from the regions with volumetric or cortical thickness differences between groups were extracted in each individual to examine correlations between morphometric measures and clinical profiles. Results Patients with PTSD showed greater cortical thickness in the right superior temporal gyrus, inferior parietal lobule, and left precuneus (P PTSD severity was positively correlated with cortical thickness in the left precuneus (r = 0.332; P = .008). The volumes of posterior corpus callosum were negatively correlated with PTSD ratings in all survivors (r = -0.210; P = .013) and with cortical thickness of the left precuneus in patients with PTSD (r = -0.302; P = .017). Conclusion Results indicate that patients with PTSD had alterations in both cerebral gray matter and white matter compared with individuals who experienced similar psychologic trauma from the same stressor. Importantly, early in the course of PTSD, gray matter changes were in the form of increased, not decreased, cortical thickness, which may have

  20. Characterization of Motor Control in Handwriting Difficulties in Children with or without Developmental Coordination Disorder

    Science.gov (United States)

    Chang, Shao-Hsia; Yu, Nan-Ying

    2010-01-01

    Aim: The purpose of this study was to characterize handwriting deficits in children with developmental coordination disorder (DCD) using computerized movement analyses. Method: Seventy-two children (40 females, 32 males; mean age 7y, SD 7mo; range 6y 2mo to 7y 11mo) with handwriting deficits (33 with DCD, 39 without DCD); and 22 age- and…

  1. Imaging and cognitive genetics: the Norwegian Cognitive NeuroGenetics sample.

    Science.gov (United States)

    Espeseth, Thomas; Christoforou, Andrea; Lundervold, Astri J; Steen, Vidar M; Le Hellard, Stephanie; Reinvang, Ivar

    2012-06-01

    Data collection for the Norwegian Cognitive NeuroGenetics sample (NCNG) was initiated in 2003 with a research grant (to Ivar Reinvang) to study cognitive aging, brain function, and genetic risk factors. The original focus was on the effects of aging (from middle age and up) and candidate genes (e.g., APOE, CHRNA4) in cross-sectional and longitudinal designs, with the cognitive and MRI-based data primarily being used for this purpose. However, as the main topic of the project broadened from cognitive aging to imaging and cognitive genetics more generally, the sample size, age range of the participants, and scope of available phenotypes and genotypes, have developed beyond the initial project. In 2009, a genome-wide association (GWA) study was undertaken, and the NCNG proper was established to study the genetics of cognitive and brain function more comprehensively. The NCNG is now controlled by the NCNG Study Group, which consists of the present authors. Prominent features of the NCNG are the adult life-span coverage of healthy participants with high-dimensional imaging, and cognitive data from a genetically homogenous sample. Another unique property is the large-scale (sample size 300-700) use of experimental cognitive tasks focusing on attention and working memory. The NCNG data is now used in numerous ongoing GWA-based studies and has contributed to several international consortia on imaging and cognitive genetics. The objective of the following presentation is to give other researchers the information necessary to evaluate possible contributions from the NCNG to various multi-sample data analyses.

  2. Characterizing adult attention-deficit/hyperactivity-disorder and comorbid borderline personality disorder: ADHD symptoms, psychopathology, cognitive functioning and psychosocial factors.

    Science.gov (United States)

    O'Malley, G K; McHugh, L; Mac Giollabhui, N; Bramham, J

    2016-01-01

    To characterize adults with comorbid attention-deficit/hyperactivity-disorder (ADHD) and borderline personality disorder (BPD) with regard to ADHD symptoms, psychopathology, cognitive functioning and psychosocial factors. A between-group design compared a group of individuals diagnosed with ADHD (n=40) with a group diagnosed with BPD and who also met the criteria for ADHD (ADHD+BPD) (n=20). Significant differences were observed for both childhood and current impulsivity symptoms, whereby ADHD+BPD exhibited increased impulsivity; no differences on self-report and cognitive measures of impulsivity were reported. The ADHD+BPD group scored significantly higher on measures of depression, anxiety and numerous other axis I and II conditions. The ADHD+BPD group scored significantly lower on most measures of intellectual functioning and attention, however largely not on those relating to response inhibition. Furthermore, group differences were observed for psychosocial factors, including education, substance use and criminal record. Comorbid ADHD and BPD is characterized by more symptoms of impulsivity, additional psychopathology, comparatively lower intellectual and attentional functioning and increased psychosocial difficulties. Copyright © 2015. Published by Elsevier Masson SAS.

  3. The Hypothesis of Apraxia of Speech in Children with Autism Spectrum Disorder

    OpenAIRE

    Shriberg, Lawrence D.; Paul, Rhea; Black, Lois M.; van Santen, Jan P.

    2011-01-01

    In a sample of 46 children aged 4 to 7 years with Autism Spectrum Disorder (ASD) and intelligible speech, there was no statistical support for the hypothesis of concomitant Childhood Apraxia of Speech (CAS). Perceptual and acoustic measures of participants’ speech, prosody, and voice were compared with data from 40 typically-developing children, 13 preschool children with Speech Delay, and 15 participants aged 5 to 49 years with CAS in neurogenetic disorders. Speech Delay and Speech Errors, r...

  4. Motor learning characterization in people with autism spectrum disorder: A systematic review.

    Science.gov (United States)

    de Moraes, Íbis Ariana Peña; Massetti, Thais; Crocetta, Tânia Brusque; da Silva, Talita Dias; de Menezes, Lilian Del Ciello; Monteiro, Carlos Bandeira de Mello; Magalhães, Fernando Henrique

    2017-01-01

    Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder primarily characterized by deficits in social interaction, communication and implicit skill learning. To analyse the results of research on "motor learning" and the means used for measuring "autistic disorder". A systematic literature search was done using Medline/PubMed, Web of Science, BVS (virtual health library), and PsycINFO. We included articles that contained the keywords "autism" and "motor learning". The variables considered were the methodological aspects; results presented, and the methodological quality of the studies. A total of 42 studies were identified; 33 articles were excluded because they did not meet the inclusion criteria. Data were extracted from nine eligible studies and summarized. We concluded that although individuals with ASD showed performance difficulties in different memory and motor learning tasks, acquisition of skills still takes place in this population; however, this skill acquisition is related to heterogeneous events, occurring without the awareness of the individual.

  5. Neurogenetics of developmental dyslexia: from genes to behavior through brain neuroimaging and cognitive and sensorial mechanisms

    Science.gov (United States)

    Mascheretti, S; De Luca, A; Trezzi, V; Peruzzo, D; Nordio, A; Marino, C; Arrigoni, F

    2017-01-01

    Developmental dyslexia (DD) is a complex neurodevelopmental deficit characterized by impaired reading acquisition, in spite of adequate neurological and sensorial conditions, educational opportunities and normal intelligence. Despite the successful characterization of DD-susceptibility genes, we are far from understanding the molecular etiological pathways underlying the development of reading (dis)ability. By focusing mainly on clinical phenotypes, the molecular genetics approach has yielded mixed results. More optimally reduced measures of functioning, that is, intermediate phenotypes (IPs), represent a target for researching disease-associated genetic variants and for elucidating the underlying mechanisms. Imaging data provide a viable IP for complex neurobehavioral disorders and have been extensively used to investigate both morphological, structural and functional brain abnormalities in DD. Performing joint genetic and neuroimaging studies in humans is an emerging strategy to link DD-candidate genes to the brain structure and function. A limited number of studies has already pursued the imaging–genetics integration in DD. However, the results are still not sufficient to unravel the complexity of the reading circuit due to heterogeneous study design and data processing. Here, we propose an interdisciplinary, multilevel, imaging–genetic approach to disentangle the pathways from genes to behavior. As the presence of putative functional genetic variants has been provided and as genetic associations with specific cognitive/sensorial mechanisms have been reported, new hypothesis-driven imaging–genetic studies must gain momentum. This approach would lead to the optimization of diagnostic criteria and to the early identification of ‘biologically at-risk’ children, supporting the definition of adequate and well-timed prevention strategies and the implementation of novel, specific remediation approach. PMID:28045463

  6. Neurogenetics of developmental dyslexia: from genes to behavior through brain neuroimaging and cognitive and sensorial mechanisms.

    Science.gov (United States)

    Mascheretti, S; De Luca, A; Trezzi, V; Peruzzo, D; Nordio, A; Marino, C; Arrigoni, F

    2017-01-03

    Developmental dyslexia (DD) is a complex neurodevelopmental deficit characterized by impaired reading acquisition, in spite of adequate neurological and sensorial conditions, educational opportunities and normal intelligence. Despite the successful characterization of DD-susceptibility genes, we are far from understanding the molecular etiological pathways underlying the development of reading (dis)ability. By focusing mainly on clinical phenotypes, the molecular genetics approach has yielded mixed results. More optimally reduced measures of functioning, that is, intermediate phenotypes (IPs), represent a target for researching disease-associated genetic variants and for elucidating the underlying mechanisms. Imaging data provide a viable IP for complex neurobehavioral disorders and have been extensively used to investigate both morphological, structural and functional brain abnormalities in DD. Performing joint genetic and neuroimaging studies in humans is an emerging strategy to link DD-candidate genes to the brain structure and function. A limited number of studies has already pursued the imaging-genetics integration in DD. However, the results are still not sufficient to unravel the complexity of the reading circuit due to heterogeneous study design and data processing. Here, we propose an interdisciplinary, multilevel, imaging-genetic approach to disentangle the pathways from genes to behavior. As the presence of putative functional genetic variants has been provided and as genetic associations with specific cognitive/sensorial mechanisms have been reported, new hypothesis-driven imaging-genetic studies must gain momentum. This approach would lead to the optimization of diagnostic criteria and to the early identification of 'biologically at-risk' children, supporting the definition of adequate and well-timed prevention strategies and the implementation of novel, specific remediation approach.

  7. Patient Characterization Protocols for Psychophysiological Studies of Traumatic Brain Injury and Post-TBI Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Paul E. Rapp

    2013-07-01

    Full Text Available Psychophysiological investigations of traumatic brain injury (TBI are being conducted for several reasons, including the objective of learning more about the underlying physiological mechanisms of the pathological processes that can be initiated by a head injury. Additional goals include the development of objective physiologically based measures that can be used to monitor the response to treatment and to identify minimally symptomatic individuals who are at risk of delayed onset neuropsychiatric disorders following injury. Research programs studying TBI search for relationships between psychophysiological measures, particularly ERP component properties (e.g. timing, amplitude, scalp distribution, and a participant’s clinical condition. Moreover, the complex relationships between brain injury and psychiatric disorders are receiving increased research attention, and ERP technologies are making contributions to this effort. This review has two objectives supporting such research efforts. The first is to review evidence indicating that traumatic brain injury is a significant risk factor for post-injury neuropsychiatric disorders. The second objective is to introduce ERP researchers who are not familiar with neuropsychiatric assessment to the instruments that are available for characterizing traumatic brain injury, post-concussion syndrome, and psychiatric disorders. Specific recommendations within this very large literature are made. We have proceeded on the assumption that, as is typically the case in an ERP laboratory, the investigators are not clinically qualified and that they will not have access to participant medical records.

  8. Characterization of Esophageal Motility Disorders in Children Presenting With Dysphagia Using High-Resolution Manometry.

    Science.gov (United States)

    Edeani, Francis; Malik, Adeel; Kaul, Ajay

    2017-03-01

    The Chicago classification was based on metrics derived from studies in asymptomatic adult subjects. Our objectives were to characterize esophageal motility disorders in children and to determine whether the spectrum of manometric findings is similar between the pediatric and adult populations. Studies have suggested that the metrics utilized in manometric diagnosis depend on age, size, and manometric assembly. This would imply that a different set of metrics should be used for the pediatric population. There are no standardized and generally accepted metrics for use in the pediatric population, though there have been attempts to establish metrics specific to this population. Overall, we found that the distribution of esophageal motility disorders in children was like that described in adults using the Chicago classification. This analysis will serve as a prequel to follow-up studies exploring the individual metrics for variability among patients, with the objective of establishing novel metrics for the pediatric population.

  9. Salt-bridge networks within globular and disordered proteins: characterizing trends for designable interactions.

    Science.gov (United States)

    Basu, Sankar; Mukharjee, Debasish

    2017-07-01

    There has been considerable debate about the contribution of salt bridges to the stabilization of protein folds, in spite of their participation in crucial protein functions. Salt bridges appear to contribute to the activity-stability trade-off within proteins by bringing high-entropy charged amino acids into close contacts during the course of their functions. The current study analyzes the modes of association of salt bridges (in terms of networks) within globular proteins and at protein-protein interfaces. While the most common and trivial type of salt bridge is the isolated salt bridge, bifurcated salt bridge appears to be a distinct salt-bridge motif having a special topology and geometry. Bifurcated salt bridges are found ubiquitously in proteins and interprotein complexes. Interesting and attractive examples presenting different modes of interaction are highlighted. Bifurcated salt bridges appear to function as molecular clips that are used to stitch together large surface contours at interacting protein interfaces. The present work also emphasizes the key role of salt-bridge-mediated interactions in the partial folding of proteins containing long stretches of disordered regions. Salt-bridge-mediated interactions seem to be pivotal to the promotion of "disorder-to-order" transitions in small disordered protein fragments and their stabilization upon binding. The results obtained in this work should help to guide efforts to elucidate the modus operandi of these partially disordered proteins, and to conceptualize how these proteins manage to maintain the required amount of disorder even in their bound forms. This work could also potentially facilitate explorations of geometrically specific designable salt bridges through the characterization of composite salt-bridge networks. Graphical abstract ᅟ.

  10. Peripheral neuropathy in genetically characterized patients with mitochondrial disorders: A study from south India.

    Science.gov (United States)

    Bindu, Parayil Sankaran; Govindaraju, Chikanna; Sonam, Kothari; Nagappa, Madhu; Chiplunkar, Shwetha; Kumar, Rakesh; Gayathri, Narayanappa; Bharath, M M Srinivas; Arvinda, Hanumanthapura R; Sinha, Sanjib; Khan, Nahid Akthar; Govindaraj, Periyasamy; Nunia, Vandana; Paramasivam, Arumugam; Thangaraj, Kumarasamy; Taly, Arun B

    2016-03-01

    There are relatively few studies, which focus on peripheral neuropathy in large cohorts of genetically characterized patients with mitochondrial disorders. This study sought to analyze the pattern of peripheral neuropathy in a cohort of patients with mitochondrial disorders. The study subjects were derived from a cohort of 52 patients with a genetic diagnosis of mitochondrial disorders seen over a period of 8 years (2006-2013). All patients underwent nerve conduction studies and those patients with abnormalities suggestive of peripheral neuropathy were included in the study. Their phenotypic features, genotype, pattern of peripheral neuropathy and nerve conduction abnormalities were analyzed retrospectively. The study cohort included 18 patients (age range: 18 months-50 years, M:F- 1.2:1).The genotype included mitochondrial DNA point mutations (n=11), SURF1 mutations (n=4) and POLG1(n=3). Axonal neuropathy was noted in 12 patients (sensori-motor:n=4; sensory:n=4; motor:n=4) and demyelinating neuropathy in 6. Phenotype-genotype correlations revealed predominant axonal neuropathy in mtDNA point mutations and demyelinating neuropathy in SURF1. Patients with POLG related disorders had both sensory ataxic neuropathy and axonal neuropathy. A careful analysis of the family history, clinical presentation, biochemical, histochemical and structural analysis may help to bring out the mitochondrial etiology in patients with peripheral neuropathy and may facilitate targeted gene testing. Presence of demyelinating neuropathy in Leigh's syndrome may suggest underlying SURF1 mutations. Sensory ataxic neuropathy with other mitochondrial signatures should raise the possibility of POLG related disorder. Copyright © 2015. Published by Elsevier B.V.

  11. Characterizing Time Irreversibility in Disordered Fermionic Systems by the Effect of Local Perturbations

    Science.gov (United States)

    Vardhan, Shreya; De Tomasi, Giuseppe; Heyl, Markus; Heller, Eric J.; Pollmann, Frank

    2017-07-01

    We study the effects of local perturbations on the dynamics of disordered fermionic systems in order to characterize time irreversibility. We focus on three different systems: the noninteracting Anderson and Aubry-André-Harper (AAH) models and the interacting spinless disordered t -V chain. First, we consider the effect on the full many-body wave functions by measuring the Loschmidt echo (LE). We show that in the extended or ergodic phase the LE decays exponentially fast with time, while in the localized phase the decay is algebraic. We demonstrate that the exponent of the decay of the LE in the localized phase diverges proportionally to the single-particle localization length as we approach the metal-insulator transition in the AAH model. Second, we probe different phases of disordered systems by studying the time expectation value of local observables evolved with two Hamiltonians that differ by a spatially local perturbation. Remarkably, we find that many-body localized systems could lose memory of the initial state in the long-time limit, in contrast to the noninteracting localized phase where some memory is always preserved.

  12. Motor learning characterization in people with autism spectrum disorder: A systematic review

    Directory of Open Access Journals (Sweden)

    Íbis Ariana Peña de Moraes

    Full Text Available ABSTRACT Autism Spectrum Disorder (ASD is a neurodevelopmental disorder primarily characterized by deficits in social interaction, communication and implicit skill learning. OBJECTIVE: To analyse the results of research on "motor learning" and the means used for measuring "autistic disorder". METHODS: A systematic literature search was done using Medline/PubMed, Web of Science, BVS (virtual health library, and PsycINFO. We included articles that contained the keywords "autism" and "motor learning". The variables considered were the methodological aspects; results presented, and the methodological quality of the studies. RESULTS: A total of 42 studies were identified; 33 articles were excluded because they did not meet the inclusion criteria. Data were extracted from nine eligible studies and summarized. CONCLUSION: We concluded that although individuals with ASD showed performance difficulties in different memory and motor learning tasks, acquisition of skills still takes place in this population; however, this skill acquisition is related to heterogeneous events, occurring without the awareness of the individual.

  13. Neuro-genetic multioptimization of the determination of polychlorinated biphenyl congeners in human milk by headspace solid phase microextraction coupled to gas chromatography with electron capture detection

    International Nuclear Information System (INIS)

    Hoffmann Kowalski, Claudia; Silva, Gilmare Antonia da; Poppi, Ronei Jesus; Teixeira Godoy, Helena; Augusto, Fabio

    2007-01-01

    Polychlorinated biphenyls (PCB) can eventually contaminate breast milk, which is a serious issue to the newborn due to their high vulnerability. Solid phase microextraction (SPME) can be a very convenient technique for their isolation and pre-concentration prior chromatographic analysis. Here, a simultaneous multioptimization strategy based on a neuro-genetic approach was applied to a headspace SPME method for determination of 12 PCB in human milk. Gas chromatography with electron capture detection (ECD) was adopted for the separation and detection of the analytes. Experiments according to a Doehlert design were carried out with varied extraction time and temperature, media ionic strength and concentration of the methanol (co-solvent). To find the best model that simultaneously correlate all PCB peak areas and SPME extraction conditions, a multivariate calibration method based on a Bayesian Neural Network (BNN) was applied. The net output from the neural network was used as input in a genetic algorithm (GA) optimization operation (neuro-genetic approach). The GA pointed out that the best values of the overall SPME operational conditions were the saturation of the media with NaCl, extraction temperature of 95 deg. C, extraction time of 60 min and addition of 5% (v/v) methanol to the media. These optimized parameters resulted in the decrease of the detection limits and increase on the sensitivity for all tested analytes, showing that the use of neuro-genetic approach can be a promising way for optimization of SPME methods

  14. Early stages of bipolar disorder: characterization and strategies for early intervention

    Directory of Open Access Journals (Sweden)

    Adiel C. Rios

    2015-12-01

    Full Text Available Objective: To characterize the early stages of bipolar disorder (BD, defined as the clinical prodrome/subsyndromal stage and first-episode phase, and strategies for their respective treatment. Methods: A selective literature search of the PubMed, Embase, PsycINFO, and ISI databases from inception until March 2014 was performed. Included in this review were articles that a characterized prodromal and first-episode stages of BD or b detailed efficacy and safety/tolerability of interventions in patients considered prodromal for BD or those with only one episode of mania/hypomania. Results: As research has only recently focused on characterization of the early phase of BD, there is little evidence for the effectiveness of any treatment option in the early phase of BD. Case management; individual, group, and family therapy; supportive therapy; and group psychoeducation programs have been proposed. Most evidence-based treatment guidelines for BD do not address treatment specifically in the context of the early stages of illness. Evidence for pharmacotherapy is usually presented in relation to illness polarity (i.e., manic/mixed or depressed or treatment phase. Conclusions: Although early recognition and treatment are critical to preventing unfavorable outcomes, there is currently little evidence for interventions in these stages of BD.

  15. A study on maintenance reliability allocation of urban transit brake system using hybrid neuro-genetic technique

    International Nuclear Information System (INIS)

    Bae, Chul Ho; Kim, Hyun Jun; Lee, Jung Hwan; Suh, Myung Won; Chu, Yul

    2007-01-01

    For reasonable establishing of maintenance strategies, safety security and cost limitation must be considered at the same time. In this paper, the concept of system reliability introduces and optimizes as the key of reasonable maintenance strategies. This study aims at optimizing component's reliability that satisfies the target reliability of brake system in the urban transit. First of all, constructed reliability evaluation system is used to predict and analyze reliability. This data is used for the optimization. To identify component reliability in a system, a method is presented in this paper which uses hybrid neuro-genetic technique. Feed-forward multi-layer neural networks trained by back propagation are used to find out the relationship between component reliability (input) and system reliability (output) of a structural system. The inverse problem can be formulated by using neural network. Genetic algorithm is used to find the minimum square error. Finally, this paper presents reasonable maintenance cycle of urban transit brake system by using optimal system reliability

  16. Advancing biomarker research: utilizing 'Big Data' approaches for the characterization and prevention of bipolar disorder.

    Science.gov (United States)

    McIntyre, Roger S; Cha, Danielle S; Jerrell, Jeanette M; Swardfager, Walter; Kim, Rachael D; Costa, Leonardo G; Baskaran, Anusha; Soczynska, Joanna K; Woldeyohannes, Hanna O; Mansur, Rodrigo B; Brietzke, Elisa; Powell, Alissa M; Gallaugher, Ashley; Kudlow, Paul; Kaidanovich-Beilin, Oksana; Alsuwaidan, Mohammad

    2014-08-01

    To provide a strategic framework for the prevention of bipolar disorder (BD) that incorporates a 'Big Data' approach to risk assessment for BD. Computerized databases (e.g., Pubmed, PsychInfo, and MedlinePlus) were used to access English-language articles published between 1966 and 2012 with the search terms bipolar disorder, prodrome, 'Big Data', and biomarkers cross-referenced with genomics/genetics, transcriptomics, proteomics, metabolomics, inflammation, oxidative stress, neurotrophic factors, cytokines, cognition, neurocognition, and neuroimaging. Papers were selected from the initial search if the primary outcome(s) of interest was (were) categorized in any of the following domains: (i) 'omics' (e.g., genomics), (ii) molecular, (iii) neuroimaging, and (iv) neurocognitive. The current strategic approach to identifying individuals at risk for BD, with an emphasis on phenotypic information and family history, has insufficient predictive validity and is clinically inadequate. The heterogeneous clinical presentation of BD, as well as its pathoetiological complexity, suggests that it is unlikely that a single biomarker (or an exclusive biomarker approach) will sufficiently augment currently inadequate phenotypic-centric prediction models. We propose a 'Big Data'- bioinformatics approach that integrates vast and complex phenotypic, anamnestic, behavioral, family, and personal 'omics' profiling. Bioinformatic processing approaches, utilizing cloud- and grid-enabled computing, are now capable of analyzing data on the order of tera-, peta-, and exabytes, providing hitherto unheard of opportunities to fundamentally revolutionize how psychiatric disorders are predicted, prevented, and treated. High-throughput networks dedicated to research on, and the treatment of, BD, integrating both adult and younger populations, will be essential to sufficiently enroll adequate samples of individuals across the neurodevelopmental trajectory in studies to enable the characterization

  17. Characterizing Positive and Negative Emotional Experiences in Young Adults With Borderline Personality Disorder Symptoms.

    Science.gov (United States)

    Chu, Carol; Victor, Sarah E; Klonsky, E David

    2016-09-01

    Some researchers suggest that borderline personality disorder (BPD) is characterized by elevated negative emotion; others argue that BPD involves both reduced positive and increased negative emotion. This study characterizes the emotional experiences of individuals with BPD symptoms in a combined university and community sample. Participants (N = 150) completed a clinical interview assessing BPD symptoms and self-report measures of positive and negative emotion. A subset (n = 106) completed a measure of emotion daily for 2 weeks. Pearson's correlations and multilevel modeling were used to examine the cross-sectional and longitudinal relationships between BPD symptoms and emotions. BPD symptoms were robustly related to increased negative emotion; this relationship remained after accounting for positive emotion. BPD symptoms were weakly related to decreased positive emotion; this relationship was no longer significant after accounting for negative emotion. BPD symptoms predicted higher levels of negative and not positive emotion over 14 days. These patterns held for subscales assessing intensity, frequency, and duration of negative and positive emotions. Findings suggest that individuals with BPD features are chiefly distinguished by elevated negative emotional experience. © 2016 Wiley Periodicals, Inc.

  18. Social skills training versus cognitive therapy for social anxiety disorder characterized by fear of blushing, trembling, or sweating

    NARCIS (Netherlands)

    Bögels, S.M.; Voncken, M.

    2008-01-01

    Current interpersonal models suggest that social anxiety disorder (SAD) is characterized by interpersonal difficulties. Individuals with SAD and fear of showing bodily symptoms also suffer from interpersonal problems, such as not being open and avoidance of expressing insecurity. Training in social

  19. Characterizing Community-Based Mental Health Services for Children with Autism Spectrum Disorders and Disruptive Behavior Problems

    Science.gov (United States)

    Brookman-Frazee, Lauren I.; Taylor, Robin; Garland, Ann F.

    2010-01-01

    This study describes the characteristics of children with autism spectrum disorders (ASD) with disruptive behavior problems served in community-based mental health clinics, characterizes psychotherapy process and outcome, and examines differences between children with ASD and a non-ASD comparison group. Results indicate that children with ASD…

  20. X-ray imaging characterization of femoral bones in aging mice with osteopetrotic disorder.

    Science.gov (United States)

    Tu, Shu-Ju; Huang, Hong-Wen; Chang, Wei-Jeng

    2015-04-01

    Aging mice with a rare osteopetrotic disorder in which the entire space of femoral bones are filled with trabecular bones are used as our research platform. A complete study is conducted with a micro computed tomography (CT) system to characterize the bone abnormality. Technical assessment of femoral bones includes geometric structure, biomechanical strength, bone mineral density (BMD), and bone mineral content (BMC). Normal aging mice of similar ages are included for comparisons. In our imaging work, we model the trabecular bone as a cylindrical rod and new quantitative which are not previously discussed are developed for advanced analysis, including trabecular segment length, trabecular segment radius, connecting node number, and distribution of trabecular segment radius. We then identified a geometric characteristic in which there are local maximums (0.0049, 0.0119, and 0.0147 mm) in the structure of trabecular segment radius. Our calculations show 343% higher in percent trabecular bone volume at distal-metaphysis; 38% higher in cortical thickness at mid-diaphysis; 11% higher in cortical cross-sectional moment of inertia at mid-diaphysis; 42% higher in cortical thickness at femur neck; 26% higher in cortical cross-sectional moment of inertia at femur neck; 31% and 395% higher in trabecular BMD and BMC at distal-metaphysis; 17% and 27% higher in cortical BMD and BMC at distal-metaphysis; 9% and 53% higher in cortical BMD and BMC at mid-diaphysis; 25% and 64% higher in cortical BMD and BMC at femur neck. Our new quantitative parameters and findings may be extended to evaluate the treatment response for other similar bone disorders. Copyright © 2015 Elsevier Ltd. All rights reserved.

  1. The psychological complexity of predictive testing for late onset neurogenetic diseases and hereditary cancers: implications for multidisciplinary counselling and for genetic education.

    Science.gov (United States)

    Evers-Kiebooms, G; Welkenhuysen, M; Claes, E; Decruyenaere, M; Denayer, L

    2000-09-01

    Increasing knowledge about the human genome has resulted in the availability of a steadily increasing number of predictive DNA-tests for two major categories of diseases: neurogenetic diseases and hereditary cancers. The psychological complexity of predictive testing for these late onset diseases requires careful consideration. It is the main aim of the present paper to describe this psychological complexity, which necessitates an adequate and systematic multidisciplinary approach, including psychological counselling, as well as ongoing education of professionals and of the general public. Predictive testing for neurogenetic diseases--in an adequate counselling context--so far elicits optimism regarding the short- and mid-term impact of the predictive test result. The psychosocial impact has been most widely studied for Huntington's disease. Longitudinal studies are of the utmost importance in evaluating the long-term impact of predictive testing for neurogenetic diseases on the tested person and his/her family. Given the more recent experience with predictive DNA-testing for hereditary cancers, fewer published scientific data are available. Longitudinal research on the mid- and long-term psychological impact of the predictive test result is essential. Decision making regarding health surveillance or preventive surgery after being detected as a carrier of one of the relevant mutations should receive special attention. Tailoring the professional approach--inside and outside genetic centres--to the families' needs is a continuous challenge. Even if a continuous effort is made, several important questions remain unanswered, last but not least the question regarding the best strategy to guarantee that the availability of predictive genetic testing results in a reduction of suffering caused by genetic disease and in an improvement of the quality of life of families confronted with genetic disease.

  2. Characterizing psychiatric comorbidity in children with autism spectrum disorder receiving publicly funded mental health services.

    Science.gov (United States)

    Brookman-Frazee, Lauren; Stadnick, Nicole; Chlebowski, Colby; Baker-Ericzén, Mary; Ganger, William

    2017-09-01

    Publicly funded mental health programs play a significant role in serving children with autism spectrum disorder. Understanding patterns of psychiatric comorbidity for this population within mental health settings is important to implement appropriately tailored interventions. This study (1) describes patterns of psychiatric comorbidity in children with autism spectrum disorder who present to mental health services with challenging behaviors and (2) identifies child characteristics associated with comorbid conditions. Data are drawn from baseline assessments from 201 children with autism spectrum disorder who participated in a community effectiveness trial across 29 publicly funded mental health programs. Non-autism spectrum disorder diagnoses were assessed using an adapted Mini-International Neuropsychiatric Interview, parent version. Approximately 92% of children met criteria for at least one non-autism spectrum disorder diagnosis (78% attention deficit hyperactivity disorder, 58% oppositional defiant disorder, 56% anxiety, 30% mood). Logistic regression indicated that child gender and clinical characteristics were differentially associated with meeting criteria for attention deficit hyperactivity disorder, oppositional defiant disorder, an anxiety, or a mood disorder. Exploratory analyses supported a link between challenging behaviors and mood disorder symptoms and revealed high prevalence of these symptoms in this autism spectrum disorder population. Findings provide direction for tailoring intervention to address a broad range of clinical issues for youth with autism spectrum disorder served in mental health settings.

  3. Characterization of IGF-II isoforms in binge eating disorder and its group psychological treatment.

    Directory of Open Access Journals (Sweden)

    Giorgio Tasca

    Full Text Available Binge eating disorder (BED affects 3.5% of the population and is characterized by binge eating for at least 2 days a week for 6 months. Treatment options include cognitive behavioral therapy, interpersonal psychotherapy, and pharmacotherapy which are associated with varied success. Little is known about the biology of BED. Since there is evidence that the insulin like growth factor system is implicated in regulation of body weight, insulin sensitivity and feeding behavior, we speculated it may be involved in BED.A cross-sectional comparison was made between three groups of women: overweight with BED, overweight without BED and normal weight without BED. Women were assigned to Group Psychodynamic Interpersonal Psychotherapy. Blood was collected before therapy, at completion and at 6 months follow up for evaluation of IGF-II using Western blot.97 overweight women with BED contributed to the cross-sectional comparison. The two control groups comprised 53 overweight women without BED, and 50 age matched normal weight women without BED. Obese women had significantly lower Big IGF-II than normal weight women, p = .028; Overweight women with BED had higher Mature IGF-II than normal weight women, p<.05. Big IGF-II showed a significant decreasing slope from pre- to post- to six months post-group psychological treatment, unrelated to changes in BMI (p = .008.Levels of IGF-II isoforms differed significantly between overweight and normal weight women. Overweight women with BED display abnormal levels of circulating IGF-II isoforms. BED is characterized by elevated mature IGF-II, an isoform shown to carry significant bioactivity. This finding is not related to BMI or to changes in body weight. The results also provide preliminary evidence that BIG IGF-II is sensitive to change due to group psychological treatment. We suggest that abnormalities in IGF-II processing may be involved in the neurobiology of BED.

  4. Morphometric brain characterization of refractory obsessive-compulsive disorder: diffeomorphic anatomic registration using exponentiated Lie algebra.

    Science.gov (United States)

    Tang, Wanjie; Li, Bin; Huang, Xiaoqi; Jiang, Xiaoyu; Li, Fei; Wang, Lijuan; Chen, Taolin; Wang, Jinhui; Gong, Qiyong; Yang, Yanchun

    2013-10-01

    Few studies have used neuroimaging to characterize treatment-refractory obsessive-compulsive disorder (OCD). This study sought to explore gray matter structure in patients with treatment-refractory OCD and compare it with that of healthy controls. A total of 18 subjects with treatment-refractory OCD and 26 healthy volunteers were analyzed by MRI using a 3.0-T scanner and voxel-based morphometry (VBM). Diffeomorphic anatomical registration using exponentiated Lie algebra (DARTEL) was used to identify structural changes in gray matter associated with treatment-refractory OCD. A partial correlation model was used to analyze whether morphometric changes were associated with Yale-Brown Obsessive-Compulsive Scale scores and illness duration. Gray matter volume did not differ significantly between the two groups. Treatment-refractory OCD patients showed significantly lower gray matter density than healthy subjects in the left posterior cingulate cortex (PCC) and mediodorsal thalamus (MD) and significantly higher gray matter density in the left dorsal striatum (putamen). These changes did not correlate with symptom severity or illness duration. Our findings provide new evidence of deficits in gray matter density in treatment-refractory OCD patients. These patients may show characteristic density abnormalities in the left PCC, MD and dorsal striatum (putamen), which should be verified in longitudinal studies. © 2013. Published by Elsevier Inc. All rights reserved.

  5. Impulsive behavior in adults with attention deficit/ hyperactivity disorder: characterization of attentional, motor and cognitive impulsiveness.

    Science.gov (United States)

    Malloy-Diniz, L; Fuentes, D; Leite, W Borges; Correa, H; Bechara, A

    2007-07-01

    Attention-deficit/hyperactivity disorder (ADHD) is characterized by inattention and/or hyperactivity/impulsivity. Impulsivity persists in adults with ADHD and might be the basis of much of the impairment observed in the daily lives of such individuals. The objective of this study was to address the presence, and more importantly, the three dimensions of impulsivity: attentional, non-planning and motor, in how they may relate to neuropsychological mechanisms of impulse control. We studied a sample of 50 adults with ADHD and 51 healthy comparison controls using the Barratt Impulsivity Scale Version 11 (BIS), and neuropsychological tasks, namely the Continuous Performance Task (CPT-II) and the Iowa Gambling Task (IGT). The ADHD group showed more signs of impulsivity on the three dimensions of BIS, committed more errors of omission and commission on the CPT-II, and made more disadvantageous choices on the IGT. These results support the existence of deficits related to three components of impulsivity: motor, cognitive, and attentional among adults with ADHD. Most importantly, this study also highlights the complementary nature of self-report questionnaires and neuropsychological tasks in the assessment of impulsivity in ADHD adults.

  6. Genetic test utilization and diagnostic yield in adult patients with neurological disorders.

    Science.gov (United States)

    Bardakjian, Tanya M; Helbig, Ingo; Quinn, Colin; Elman, Lauren B; McCluskey, Leo F; Scherer, Steven S; Gonzalez-Alegre, Pedro

    2018-03-28

    To determine the diagnostic yield of different genetic test modalities in adult patients with neurological disorders, we evaluated all adult patients seen for genetic diagnostic evaluation in the outpatient neurology practice at the University of Pennsylvania between January 2016 and April 2017 as part of the newly created Penn Neurogenetics Program. Subjects were identified through our electronic medical system as those evaluated by the Program's single clinical genetic counselor in that period. A total of 377 patients were evaluated by the Penn Neurogenetics Program in different settings and genetic testing recommended. Of those, 182 (48%) were seen in subspecialty clinic setting and 195 (52%) in a General Neurogenetics Clinic. Genetic testing was completed in over 80% of patients in whom it was recommended. The diagnostic yield was 32% across disease groups. Stratified by testing modality, the yield was highest with directed testing (50%) and array comparative genomic hybridization (45%), followed by gene panels and exome testing (25% each). In conclusion, genetic testing can be successfully requested in clinic in a large majority of adult patients. Age is not a limiting factor for a genetic diagnostic evaluation and the yield of clinical testing across phenotypes (almost 30%) is consistent with previous phenotype-focused or research-based studies. These results should inform the development of specific guidelines for clinical testing and serve as evidence to improve reimbursement by insurance payers.

  7. Characterization of Movement Disorder Phenomenology in Genetically Proven, Familial Frontotemporal Lobar Degeneration: A Systematic Review and Meta-Analysis

    Science.gov (United States)

    Gasca-Salas, Carmen; Masellis, Mario; Khoo, Edwin; Shah, Binit B.; Fisman, David; Lang, Anthony E.; Kleiner-Fisman, Galit

    2016-01-01

    Background Mutations in granulin (PGRN) and tau (MAPT), and hexanucleotide repeat expansions near the C9orf72 genes are the most prevalent genetic causes of frontotemporal lobar degeneration. Although behavior, language and movement presentations are common, the relationship between genetic subgroup and movement disorder phenomenology is unclear. Objective We conducted a systematic review and meta-analysis of the literature characterizing the spectrum and prevalence of movement disorders in genetic frontotemporal lobar degeneration. Methods Electronic databases were searched using terms related to frontotemporal lobar degeneration and movement disorders. Articles were included when cases had a proven genetic cause. Study-specific prevalence estimates for clinical features were transformed using Freeman-Tukey arcsine transformation, allowing for pooled estimates of prevalence to be generated using random-effects models. Results The mean age at onset was earlier in those with MAPT mutations compared to PGRN (p<0.001) and C9orf72 (p = 0.024). 66.5% of subjects had an initial non-movement presentation that was most likely a behavioral syndrome (35.7%). At any point during the disease, parkinsonism was the most common movement syndrome reported in 79.8% followed by progressive supranuclear palsy (PSPS) and corticobasal (CBS) syndromes in 12.2% and 10.7%, respectively. The prevalence of movement disorder as initial presentation was higher in MAPT subjects (35.8%) compared to PGRN subjects (10.1). In those with a non-movement presentation, language disorder was more common in PGRN subjects (18.7%) compared to MAPT subjects (5.4%). Summary This represents the first systematic review and meta-analysis of the occurrence of movement disorder phenomenology in genetic frontotemporal lobar degeneration. Standardized prospective collection of clinical information in conjunction with genetic characterization will be crucial for accurate clinico-genetic correlation. PMID:27100392

  8. Oxytocin, stress and social behavior: neurogenetics of the human oxytocin system.

    Science.gov (United States)

    Kumsta, Robert; Heinrichs, Markus

    2013-02-01

    The neuropeptide oxytocin has had key roles throughout mammalian evolution in the regulation of complex social cognition and behaviors, such as attachment, parental care, pair-bonding, as well as social exploration and recognition. Recently, studies have begun to provide evidence that the function of this neuropeptide is impaired in mental disorders associated with social deficits. In this review, we focus on the genetic mechanisms of inter-individual variation in the social neuropeptide signaling. We discuss molecular genetic studies which identified variations in specific genes contributing to individual differences in social behavior and cognition, with a focus on the gene coding for the oxytocin receptor (OXTR) emerging as a particularly promising candidate. We conclude that molecular studies are warranted to elucidate functional consequences of variants that have shown stable associations with sociobehavioral phenotypes. With regard to the variability in individual responses to oxytocin administration, we advocate the need for pharmacogenetic approaches in order to test how the efficacy of oxytocin administration is modulated by genetic variation of OXTR or other genes involved in oxytocin signaling. Copyright © 2012 Elsevier Ltd. All rights reserved.

  9. Neurogenetics of depression: a focus on reward processing and stress sensitivity.

    Science.gov (United States)

    Bogdan, Ryan; Nikolova, Yuliya S; Pizzagalli, Diego A

    2013-04-01

    Major depressive disorder (MDD) is etiologically complex and has a heterogeneous presentation. This heterogeneity hinders the ability of molecular genetic research to reliably detect the small effects conferred by common genetic variation. As a result, significant research efforts have been directed at investigating more homogenous intermediate phenotypes believed to be more proximal to gene function and lie between genes and/or environmental effects and disease processes. In the current review we survey and integrate research on two promising intermediate phenotypes linked to depression: reward processing and stress sensitivity. A synthesis of this burgeoning literature indicates that a molecular genetic approach focused on intermediate phenotypes holds significant promise to fundamentally improve our understanding of the pathophysiology and etiology of depression, which will be required for improved diagnostic definitions and the development of novel and more efficacious treatment and prevention strategies. We conclude by highlighting challenges facing intermediate phenotype research and future development that will be required to propel this pivotal research into new directions. Copyright © 2012 Elsevier Inc. All rights reserved.

  10. Integral Characterization of Defective BDNF/TrkB Signalling in Neurological and Psychiatric Disorders Leads the Way to New Therapies

    Science.gov (United States)

    Tejeda, Gonzalo S.; Díaz-Guerra, Margarita

    2017-01-01

    Enhancement of brain-derived neurotrophic factor (BDNF) signalling has great potential in therapy for neurological and psychiatric disorders. This neurotrophin not only attenuates cell death but also promotes neuronal plasticity and function. However, an important challenge to this approach is the persistence of aberrant neurotrophic signalling due to a defective function of the BDNF high-affinity receptor, tropomyosin-related kinase B (TrkB), or downstream effectors. Such changes have been already described in several disorders, but their importance as pathological mechanisms has been frequently underestimated. This review highlights the relevance of an integrative characterization of aberrant BDNF/TrkB pathways for the rational design of therapies that by combining BDNF and TrkB targets could efficiently promote neurotrophic signalling. PMID:28134845

  11. Cephalic Disorders

    Science.gov (United States)

    ... destructive lesions, but are sometimes the result of abnormal development. The disorder can occur before or after birth. Porencephaly most ... decade of life. SCHIZENCEPHALY is a rare developmental disorder characterized by abnormal slits, or clefts, in the cerebral hemispheres. Schizencephaly ...

  12. Hydroxyurea Treatment and Development of the Rat Cerebellum: Effects on the Neurogenetic Profiles and Settled Patterns of Purkinje Cells and Deep Cerebellar Nuclei Neurons.

    Science.gov (United States)

    Martí, Joaquín; Santa-Cruz, M C; Serra, Roger; Hervás, José P

    2016-11-01

    The current paper analyzes the development of the male and female rat cerebellum exposed to hydroxyurea (HU) (300 or 600 mg/kg) as embryo and collected at postnatal day 90. Our study reveals that the administration of this drug compromises neither the cytoarchitecture of the cerebellar cortex nor deep nuclei (DCN). However, in comparison with the saline group, we observed that several cerebellar parameters were lower in the HU injected groups. These parameters included area of the cerebellum, cerebellar cortex length, molecular layer area, Purkinje cell number, granule cell counts, internal granular layer, white matter and cerebellar nuclei areas, and number of deep cerebellar nuclei neurons. These features were larger in the rats injected with saline, smaller in those exposed to 300 mg/kg of HU and smallest in the group receiving 600 mg/kg of this agent. No sex differences in the effect of the HU were observed. In addition, we infer the neurogenetic timetables and the neurogenetic gradients of PCs and DCN neurons in rats exposed to either saline or HU as embryos. For this purpose, 5-bromo-2'-deoxyuridine was injected into pregnant rats previously administered with saline or HU. This thymidine analog was administered following a progressively delayed cumulative labeling method. The data presented here show that systematic differences exist in the pattern of neurogenesis and in the spatial location of cerebellar neurons between rats injected with saline or HU. No sex differences in the effect of the HU were observed. These findings have implications for the administration of this compound to women in gestation as the effects of HU on the development of the cerebellum might persist throughout their offsprings' life.

  13. Biophysical characterization of the structural change of Nopp140, an intrinsically disordered protein, in the interaction with CK2α

    International Nuclear Information System (INIS)

    Na, Jung-Hyun; Lee, Won-Kyu; Kim, Yuyoung; Jeong, Cherlhyun; Song, Seung Soo; Cha, Sun-Shin; Han, Kyou-Hoon; Shin, Yeon-Kyun; Yu, Yeon Gyu

    2016-01-01

    Nucleolar phosphoprotein 140 (Nopp140) is a nucleolar protein, more than 80% of which is disordered. Previous studies have shown that the C-terminal region of Nopp140 (residues 568–596) interacts with protein kinase CK2α, and inhibits the catalytic activity of CK2. Although the region of Nopp140 responsible for the interaction with CK2α was identified, the structural features and the effect of this interaction on the structure of Nopp140 have not been defined due to the difficulty of structural characterization of disordered protein. In this study, the disordered feature of Nopp140 and the effect of CK2α on the structure of Nopp140 were examined using single-molecule fluorescence resonance energy transfer (smFRET) and electron paramagnetic resonance (EPR). The interaction with CK2α was increased conformational rigidity of the CK2α-interacting region of Nopp140 (Nopp140C), suggesting that the disordered and flexible conformation of Nopp140C became more rigid conformation as it binds to CK2α. In addition, site specific spin labeling and EPR analysis confirmed that the residues 574–589 of Nopp140 are critical for binding to CK2α. Similar technical approaches can be applied to analyze the conformational changes in other IDPs during their interactions with binding partners. - Highlights: • Nopp140 is intrinsically disordered protein (IDP). • Conformation of Nopp140 became more rigid conformation due to interaction with CK2α. • smFRET and EPR could be applied to analyze the structural changes of IDPs.

  14. Biophysical characterization of the structural change of Nopp140, an intrinsically disordered protein, in the interaction with CK2α

    Energy Technology Data Exchange (ETDEWEB)

    Na, Jung-Hyun [Department of Chemistry, Kookmin University, Jeongneung-dong, Seongbuk-gu, Seoul 02707 (Korea, Republic of); Biomedical Research Institute, Korea Institute of Science and Technology, Seoul 02792 (Korea, Republic of); Department of Chemistry and Nano Science, Ewha Womans University, Seoul 03760 (Korea, Republic of); Lee, Won-Kyu [Department of Chemistry, Kookmin University, Jeongneung-dong, Seongbuk-gu, Seoul 02707 (Korea, Republic of); Kim, Yuyoung; Jeong, Cherlhyun [Biomedical Research Institute, Korea Institute of Science and Technology, Seoul 02792 (Korea, Republic of); Song, Seung Soo [Department of Chemistry, Kookmin University, Jeongneung-dong, Seongbuk-gu, Seoul 02707 (Korea, Republic of); Cha, Sun-Shin [Department of Chemistry and Nano Science, Ewha Womans University, Seoul 03760 (Korea, Republic of); Han, Kyou-Hoon [Division of Biosystems Research, Korea Research Institute of Bioscience and Biotechnology, Daejeon 34141 (Korea, Republic of); Shin, Yeon-Kyun [Biomedical Research Institute, Korea Institute of Science and Technology, Seoul 02792 (Korea, Republic of); Department of Biochemistry, Biophysics and Molecular Biology, Iowa State University, Ames, IA 50011 (United States); Yu, Yeon Gyu, E-mail: ygyu@kookmin.ac.kr [Department of Chemistry, Kookmin University, Jeongneung-dong, Seongbuk-gu, Seoul 02707 (Korea, Republic of)

    2016-08-19

    Nucleolar phosphoprotein 140 (Nopp140) is a nucleolar protein, more than 80% of which is disordered. Previous studies have shown that the C-terminal region of Nopp140 (residues 568–596) interacts with protein kinase CK2α, and inhibits the catalytic activity of CK2. Although the region of Nopp140 responsible for the interaction with CK2α was identified, the structural features and the effect of this interaction on the structure of Nopp140 have not been defined due to the difficulty of structural characterization of disordered protein. In this study, the disordered feature of Nopp140 and the effect of CK2α on the structure of Nopp140 were examined using single-molecule fluorescence resonance energy transfer (smFRET) and electron paramagnetic resonance (EPR). The interaction with CK2α was increased conformational rigidity of the CK2α-interacting region of Nopp140 (Nopp140C), suggesting that the disordered and flexible conformation of Nopp140C became more rigid conformation as it binds to CK2α. In addition, site specific spin labeling and EPR analysis confirmed that the residues 574–589 of Nopp140 are critical for binding to CK2α. Similar technical approaches can be applied to analyze the conformational changes in other IDPs during their interactions with binding partners. - Highlights: • Nopp140 is intrinsically disordered protein (IDP). • Conformation of Nopp140 became more rigid conformation due to interaction with CK2α. • smFRET and EPR could be applied to analyze the structural changes of IDPs.

  15. Using the Preschool Language Scale, Fourth Edition to Characterize Language in Preschoolers with Autism Spectrum Disorders

    Science.gov (United States)

    Volden, Joanne; Smith, Isabel M.; Szatmari, Peter; Bryson, Susan; Fombonne, Eric; Mirenda, Pat; Roberts, Wendy; Vaillancourt, Tracy; Waddell, Charlotte; Zwaigenbaum, Lonnie; Georgiades, Stelios; Duku, Eric; Thompson, Ann

    2011-01-01

    Purpose: The Preschool Language Scale, Fourth Edition (PLS-4; Zimmerman, Steiner, & Pond, 2002) was used to examine syntactic and semantic language skills in preschool children with autism spectrum disorders (ASD) to determine its suitability for use with this population. We expected that PLS-4 performance would be better in more…

  16. Panic Disorder among Adults

    Science.gov (United States)

    ... Disorder Among Adolescents Data Sources Share Panic Disorder Definition Panic Disorder is an anxiety disorder characterized by ... MSC 9663 Bethesda, MD 20892-9663 Follow Us Facebook Twitter YouTube Google Plus NIMH Newsletter NIMH RSS ...

  17. Characterization of nutrient disorders of gerbera hybrid 'Festival Light Eye Pink'

    Science.gov (United States)

    Gerbera hybrid ‘Festival Yellow with Light Eye’ plants were grown in silica sand culture to induce and photograph nutritional disorder symptoms. Plants were grown with a complete modified Hoagland's all nitrate solution: (macronutrients in mM) 15 NO3-N, 1.0 PO4-P, 6.0 K, 5.0 Ca, 2.0 Mg, and 2.0 SO4...

  18. Fractal analysis of MRI data for the characterization of patients with schizophrenia and bipolar disorder

    Science.gov (United States)

    Squarcina, Letizia; De Luca, Alberto; Bellani, Marcella; Brambilla, Paolo; Turkheimer, Federico E.; Bertoldo, Alessandra

    2015-02-01

    Fractal geometry can be used to analyze shape and patterns in brain images. With this study we use fractals to analyze T1 data of patients affected by schizophrenia or bipolar disorder, with the aim of distinguishing between healthy and pathological brains using the complexity of brain structure, in particular of grey matter, as a marker of disease. 39 healthy volunteers, 25 subjects affected by schizophrenia and 11 patients affected by bipolar disorder underwent an MRI session. We evaluated fractal dimension of the brain cortex and its substructures, calculated with an algorithm based on the box-count algorithm. We modified this algorithm, with the aim of avoiding the segmentation processing step and using all the information stored in the image grey levels. Moreover, to increase sensitivity to local structural changes, we computed a value of fractal dimension for each slice of the brain or of the particular structure. To have reference values in comparing healthy subjects with patients, we built a template by averaging fractal dimension values of the healthy volunteers data. Standard deviation was evaluated and used to create a confidence interval. We also performed a slice by slice t-test to assess the difference at slice level between the three groups. Consistent average fractal dimension values were found across all the structures in healthy controls, while in the pathological groups we found consistent differences, indicating a change in brain and structures complexity induced by these disorders.

  19. Fractal analysis of MRI data for the characterization of patients with schizophrenia and bipolar disorder

    International Nuclear Information System (INIS)

    Squarcina, Letizia; Bellani, Marcella; De Luca, Alberto; Bertoldo, Alessandra; Brambilla, Paolo; Turkheimer, Federico E

    2015-01-01

    Fractal geometry can be used to analyze shape and patterns in brain images. With this study we use fractals to analyze T1 data of patients affected by schizophrenia or bipolar disorder, with the aim of distinguishing between healthy and pathological brains using the complexity of brain structure, in particular of grey matter, as a marker of disease. 39 healthy volunteers, 25 subjects affected by schizophrenia and 11 patients affected by bipolar disorder underwent an MRI session. We evaluated fractal dimension of the brain cortex and its substructures, calculated with an algorithm based on the box-count algorithm. We modified this algorithm, with the aim of avoiding the segmentation processing step and using all the information stored in the image grey levels. Moreover, to increase sensitivity to local structural changes, we computed a value of fractal dimension for each slice of the brain or of the particular structure. To have reference values in comparing healthy subjects with patients, we built a template by averaging fractal dimension values of the healthy volunteers data. Standard deviation was evaluated and used to create a confidence interval. We also performed a slice by slice t-test to assess the difference at slice level between the three groups. Consistent average fractal dimension values were found across all the structures in healthy controls, while in the pathological groups we found consistent differences, indicating a change in brain and structures complexity induced by these disorders. (paper)

  20. Patient Characterization Protocols for Psychophysiological Studies of Traumatic Brain Injury and Post-TBI Psychiatric Disorders

    Science.gov (United States)

    2013-07-22

    and Post-TBI Psychiatric Disorders 5a. CONTRACT NUMBER 5b. GRANT NUMBER 5c. PROGRAM ELEMENT NUMBER 6. AUTHOR(S) 5d. PROJECT NUMBER 5e. TASK...in (282–285)]. Based on a review of the literature, Graham and Cardon reported that substance abuse rates decline following TBI, including mild TBI...preva- lence and outcomes research (1994-2004). Neuropsychol Rehabil (2006) 16(5):537–60. doi:10.1080/09602010500231875 285. Graham DP, Cardon AL. An

  1. Epidemiological and clinical characterization following a first psychotic episode in major depressive disorder: comparisons with schizophrenia and bipolar I disorder in the Cavan-Monaghan First Episode Psychosis Study (CAMFEPS).

    Science.gov (United States)

    Owoeye, Olabisi; Kingston, Tara; Scully, Paul J; Baldwin, Patrizia; Browne, David; Kinsella, Anthony; Russell, Vincent; O'Callaghan, Eadbhard; Waddington, John L

    2013-07-01

    While recent research on psychotic illness has focussed on the nosological, clinical, and biological relationships between schizophrenia and bipolar disorder, little attention has been directed to the most common other psychotic diagnosis, major depressive disorder with psychotic features (MDDP). As this diagnostic category captures the confluence between dimensions of psychotic and affective psychopathology, it is of unappreciated heuristic potential to inform on the nature of psychotic illness. Therefore, the epidemiology and clinical characteristics of MDDP were compared with those of schizophrenia and bipolar disorder within the Cavan-Monaghan First Episode Psychosis Study (n = 370). Epidemiologically, the first psychotic episode of MDDP (n = 77) was uniformly distributed across the adult life span, while schizophrenia (n = 73) and bipolar disorder (n = 73) were primarily disorders of young adulthood; the incidence of MDDP, like bipolar disorder, did not differ between the sexes, while the incidence of schizophrenia was more common in males than in females. Clinically, MDDP was characterized by negative symptoms, executive dysfunction, neurological soft signs (NSS), premorbid intellectual function, premorbid adjustment, and quality of life similar to those for schizophrenia, while bipolar disorder was characterized by less prominent negative symptoms, executive dysfunction and NSS, and better quality of life. These findings suggest that what we currently categorize as MDDP may be more closely aligned with other psychotic diagnoses than has been considered previously. They indicate that differences in how psychosis is manifested vis-à-vis depression and mania may be quantitative rather than qualitative and occur within a dimensional space, rather than validating categorical distinctions.

  2. Epidemiological and clinical characterization following a first psychotic episode in major depressive disorder: Comparisons with Schizophrenia and Bipolar I Disorder in the Cavan-Monaghan First Episode Psychosis Study (CAMFEPS).

    LENUS (Irish Health Repository)

    Owoeye, Olabisi

    2013-05-28

    While recent research on psychotic illness has focussed on the nosological, clinical, and biological relationships between schizophrenia and bipolar disorder, little attention has been directed to the most common other psychotic diagnosis, major depressive disorder with psychotic features (MDDP). As this diagnostic category captures the confluence between dimensions of psychotic and affective psychopathology, it is of unappreciated heuristic potential to inform on the nature of psychotic illness. Therefore, the epidemiology and clinical characteristics of MDDP were compared with those of schizophrenia and bipolar disorder within the Cavan-Monaghan First Episode Psychosis Study (n = 370). Epidemiologically, the first psychotic episode of MDDP (n = 77) was uniformly distributed across the adult life span, while schizophrenia (n = 73) and bipolar disorder (n = 73) were primarily disorders of young adulthood; the incidence of MDDP, like bipolar disorder, did not differ between the sexes, while the incidence of schizophrenia was more common in males than in females. Clinically, MDDP was characterized by negative symptoms, executive dysfunction, neurological soft signs (NSS), premorbid intellectual function, premorbid adjustment, and quality of life similar to those for schizophrenia, while bipolar disorder was characterized by less prominent negative symptoms, executive dysfunction and NSS, and better quality of life. These findings suggest that what we currently categorize as MDDP may be more closely aligned with other psychotic diagnoses than has been considered previously. They indicate that differences in how psychosis is manifested vis-à-vis depression and mania may be quantitative rather than qualitative and occur within a dimensional space, rather than validating categorical distinctions.

  3. Prevalence and characterization of neonatal skin disorders in the first 72 h of life

    Directory of Open Access Journals (Sweden)

    Flávia Pereira Reginatto

    2017-05-01

    Conclusions: Dermatological findings are frequent during the first days of life and some of them characterize the newborn's skin. Mixed‐race newborns and those whose mothers had some gestational risk factor had more dermatological findings. The gestational age, newborn's ethnicity, gender, Apgar at the first and fifth minutes of life, type of delivery, and seasonality influenced the presence of specific neonatal dermatological findings.

  4. Epidemic spreading model to characterize misfolded proteins propagation in aging and associated neurodegenerative disorders.

    Science.gov (United States)

    Iturria-Medina, Yasser; Sotero, Roberto C; Toussaint, Paule J; Evans, Alan C

    2014-11-01

    Misfolded proteins (MP) are a key component in aging and associated neurodegenerative disorders. For example, misfolded Amyloid-ß (Aß) and tau proteins are two neuropathogenic hallmarks of Alzheimer's disease. Mechanisms underlying intra-brain MP propagation/deposition remain essentially uncharacterized. Here, is introduced an epidemic spreading model (ESM) for MP dynamics that considers propagation-like interactions between MP agents and the brain's clearance response across the structural connectome. The ESM reproduces advanced Aß deposition patterns in the human brain (explaining 46∼56% of the variance in regional Aß loads, in 733 subjects from the ADNI database). Furthermore, this model strongly supports a) the leading role of Aß clearance deficiency and early Aß onset age during Alzheimer's disease progression, b) that effective anatomical distance from Aß outbreak region explains regional Aß arrival time and Aß deposition likelihood, c) the multi-factorial impact of APOE e4 genotype, gender and educational level on lifetime intra-brain Aß propagation, and d) the modulatory impact of Aß propagation history on tau proteins concentrations, supporting the hypothesis of an interrelated pathway between Aß pathophysiology and tauopathy. To our knowledge, the ESM is the first computational model highlighting the direct link between structural brain networks, production/clearance of pathogenic proteins and associated intercellular transfer mechanisms, individual genetic/demographic properties and clinical states in health and disease. In sum, the proposed ESM constitutes a promising framework to clarify intra-brain region to region transference mechanisms associated with aging and neurodegenerative disorders.

  5. Epidemic spreading model to characterize misfolded proteins propagation in aging and associated neurodegenerative disorders.

    Directory of Open Access Journals (Sweden)

    Yasser Iturria-Medina

    2014-11-01

    Full Text Available Misfolded proteins (MP are a key component in aging and associated neurodegenerative disorders. For example, misfolded Amyloid-ß (Aß and tau proteins are two neuropathogenic hallmarks of Alzheimer's disease. Mechanisms underlying intra-brain MP propagation/deposition remain essentially uncharacterized. Here, is introduced an epidemic spreading model (ESM for MP dynamics that considers propagation-like interactions between MP agents and the brain's clearance response across the structural connectome. The ESM reproduces advanced Aß deposition patterns in the human brain (explaining 46∼56% of the variance in regional Aß loads, in 733 subjects from the ADNI database. Furthermore, this model strongly supports a the leading role of Aß clearance deficiency and early Aß onset age during Alzheimer's disease progression, b that effective anatomical distance from Aß outbreak region explains regional Aß arrival time and Aß deposition likelihood, c the multi-factorial impact of APOE e4 genotype, gender and educational level on lifetime intra-brain Aß propagation, and d the modulatory impact of Aß propagation history on tau proteins concentrations, supporting the hypothesis of an interrelated pathway between Aß pathophysiology and tauopathy. To our knowledge, the ESM is the first computational model highlighting the direct link between structural brain networks, production/clearance of pathogenic proteins and associated intercellular transfer mechanisms, individual genetic/demographic properties and clinical states in health and disease. In sum, the proposed ESM constitutes a promising framework to clarify intra-brain region to region transference mechanisms associated with aging and neurodegenerative disorders.

  6. Effect of disorder and defects in ion-implanted semiconductors optical and photothermal characterization

    CERN Document Server

    Willardson, R K; Christofides, Constantinos; Ghibaudo, Gerard

    1997-01-01

    Defects in ion-implanted semiconductors are important and will likely gain increased importance as annealing temperatures are reduced with successive IC generations. Novel implant approaches, such as MdV implantation, create new types of defects whose origin and annealing characteristics will need to be addressed. Publications in this field mainly focus on the effects of ion implantation on the material and the modification in the implanted layer after high temperature annealing. The editors of this volume and Volume 45 focus on the physics of the annealing kinetics of the damaged layer. An overview of characterization tehniques and a critical comparison of the information on annealing kinetics is also presented. Key Features * Provides basic knowledge of ion implantation-induced defects * Focuses on physical mechanisms of defect annealing * Utilizes electrical, physical, and optical characterization tools for processed semiconductors * Provides the basis for understanding the problems caused by the defects g...

  7. Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.

    Science.gov (United States)

    Corsello, Giovanni; Antona, Vincenzo; Serra, Gregorio; Zara, Federico; Giambrone, Clara; Lagalla, Luca; Piccione, Maria; Piro, Ettore

    2018-04-04

    The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1.2, with autosomal dominant pattern of inheritance and wide phenotypical variability. Café-au-lait spots (CALs), cutaneous and/or subcutaneous neurofibromas (CNFs/SCNFs), skinfold freckling, skeletal abnormalities, Lisch nodules of the iris and increased risk of learning and intellectual disabilities, as well as tumors of the nervous system and other organs are its main clinical features. The preliminary group collected 168 subjects with clinical suspicion of NF1. They were evaluated following the National Institutes of Health (NIH) criteria for NF1, revised by Gutmann et al. 1997, integrated for 67 of them by molecular testing. According to these references, 112 of 168 patients were diagnosed as NF1. The sample was characterized by an equal sex ratio (57 males, 55 females) and age distribution ranging from 10 days to 60 years of age (mean age, 13 years). A wide spectrum of clinical features has been observed in our patients. Mutational analysis resulted positive in 51 cases (76%). Twenty-four mutations detected in our cohort have not been reported to date. This study may contribute to a better definition of genotypic and phenotypic features of NF1 patients, with respect to further insights into the clinical characterization of the disease. In addition, an amplification of the spectrum of mutations in the NF1 gene has been documented.

  8. Risk characterization of hospitalizations for mental illness and/or behavioral disorders with concurrent heat-related illness.

    Directory of Open Access Journals (Sweden)

    Michael T Schmeltz

    Full Text Available Many studies have found significant associations between high ambient temperatures and increases in heat-related morbidity and mortality. Several studies have demonstrated that increases in heat-related hospitalizations are elevated among individuals with diagnosed mental illnesses and/or behavioral disorders (MBD. However, there are a limited number of studies regarding risk factors associated with specific mental illnesses that contribute, at least in part, to heat-related illnesses (HRI in the United States.To identify and characterize individual and environmental risk factors associated with MBD hospitalizations with a concurrent HRI diagnosis.This study uses hospitalization data from the Nationwide Inpatient Sample (2001-2010. Descriptive analyses of primary and secondary diagnoses of MBDs with an HRI were examined. Risk ratios (RR were calculated from multivariable models to identify risk factors for hospitalizations among patients with mental illnesses and/or behavioral disorders and HRI.Nondependent alcohol/drug abuse, dementia, and schizophrenia were among the disorders that were associated with increased frequency of HRI hospitalizations among MBD patients. Increased risk of MBD hospitalizations with HRI was observed for Males (RR, 3.06, African Americans (RR, 1.16, Native Americans (RR, 1.70, uninsured (RR, 1.92, and those 40 years and older, compared to MBD hospitalizations alone.Previous studies outside the U.S. have found that dementia and schizophrenia are significant risk factors for HRI hospitalizations. Our results suggest that hospitalizations among substance abusers may also be an important risk factor associated with heat morbidity. Improved understanding of these relative risks could help inform future public health strategies.

  9. Effect of disorder and defects in ion-implanted semiconductors electrical and physiochemical characterization

    CERN Document Server

    Willardson, Robert K; Christofides, Constantinos; Ghibaudo, Gerard

    2014-01-01

    Defects in ion-implanted semiconductors are important and will likely gain increased importance in the future as annealing temperatures are reduced with successive IC generations. Novel implant approaches, such as MdV implantation, create new types of defects whose origin and annealing characteristics will need to be addressed. Publications in this field mainly focus on the effects of ion implantation on the material and the modification in the implanted layer afterhigh temperature annealing.Electrical and Physicochemical Characterization focuses on the physics of the annealing kine

  10. High internal noise and poor external noise filtering characterize perception in autism spectrum disorder.

    Science.gov (United States)

    Park, Woon Ju; Schauder, Kimberly B; Zhang, Ruyuan; Bennetto, Loisa; Tadin, Duje

    2017-12-14

    An emerging hypothesis postulates that internal noise is a key factor influencing perceptual abilities in autism spectrum disorder (ASD). Given fundamental and inescapable effects of noise on nearly all aspects of neural processing, this could be a critical abnormality with broad implications for perception, behavior, and cognition. However, this proposal has been challenged by both theoretical and empirical studies. A crucial question is whether and how internal noise limits perception in ASD, independently from other sources of perceptual inefficiency, such as the ability to filter out external noise. Here, we separately estimated internal noise and external noise filtering in ASD. In children and adolescents with and without ASD, we computationally modeled individuals' visual orientation discrimination in the presence of varying levels of external noise. The results revealed increased internal noise and worse external noise filtering in individuals with ASD. For both factors, we also observed high inter-individual variability in ASD, with only the internal noise estimates significantly correlating with severity of ASD symptoms. We provide evidence for reduced perceptual efficiency in ASD that is due to both increased internal noise and worse external noise filtering, while highlighting internal noise as a possible contributing factor to variability in ASD symptoms.

  11. Major depressive disorder is characterized by greater reward network activation to monetary than pleasant image rewards.

    Science.gov (United States)

    Smoski, Moria J; Rittenberg, Alison; Dichter, Gabriel S

    2011-12-30

    Anhedonia, the loss of interest or pleasure in normally rewarding activities, is a hallmark feature of unipolar Major Depressive Disorder (MDD). A growing body of literature has identified frontostriatal dysfunction during reward anticipation and outcomes in MDD. However, no study to date has directly compared responses to different types of rewards such as pleasant images and monetary rewards in MDD. To investigate the neural responses to monetary and pleasant image rewards in MDD, a modified Monetary Incentive Delay task was used during functional magnetic resonance imaging to assess neural responses during anticipation and receipt of monetary and pleasant image rewards. Participants included nine adults with MDD and 13 affectively healthy controls. The MDD group showed lower activation than controls when anticipating monetary rewards in right orbitofrontal cortex and subcallosal cortex, and when anticipating pleasant image rewards in paracingulate and supplementary motor cortex. The MDD group had relatively greater activation in right putamen when anticipating monetary versus pleasant image rewards, relative to the control group. Results suggest reduced reward network activation in MDD when anticipating rewards, as well as relatively greater hypoactivation to pleasant image than monetary rewards. 2011 Elsevier Ireland Ltd. All rights reserved.

  12. Nuclear magnetic resonance characterization of metabolite disorder in orange trees caused by citrus sudden death disease.

    Science.gov (United States)

    Prestes, Rosilene A; Colnago, Luiz A; Forato, Lucimara A; Carrilho, Emanuel; Bassanezi, Renato B; Wulff, Nelson A

    2009-01-01

    Citrus sudden death (CSD) is a new disease of sweet orange and mandarin trees grafted on Rangpur lime and Citrus volkameriana rootstocks. It was first seen in Brazil in 1999, and has since been detected in more than four million trees. The CSD causal agent is unknown and the current hypothesis involves a virus similar to Citrus tristeza virus or a new virus named Citrus sudden death-associated virus. CSD symptoms include generalized foliar discoloration, defoliation and root death, and, in most cases, it can cause tree death. One of the unique characteristics of CSD disease is the presence of a yellow stain in the rootstock bark near the bud union. This region also undergoes profound anatomical changes. In this study, we analyse the metabolic disorder caused by CSD in the bark of sweet orange grafted on Rangpur lime by nuclear magnetic resonance (NMR) spectroscopy and imaging. The imaging results show the presence of a large amount of non-functional phloem in the rootstock bark of affected plants. The spectroscopic analysis shows a high content of triacylglyceride and sucrose, which may be related to phloem blockage close to the bud union. We also propose that, without knowing the causal CSD agent, the determination of oil content in rootstock bark by low-resolution NMR can be used as a complementary method for CSD diagnosis, screening about 300 samples per hour.

  13. Characterization of neuromyelitis optica and neuromyelitis optica spectrum disorder patients with a late onset.

    Science.gov (United States)

    Collongues, N; Marignier, R; Jacob, A; Leite, M I; Siva, A; Paul, F; Zephir, H; Akman-Demir, G; Elsone, L; Jarius, S; Papeix, C; Mutch, K; Saip, S; Wildemann, B; Kitley, J; Karabudak, R; Aktas, O; Kuscu, D; Altintas, A; Palace, J; Confavreux, C; De Seze, J

    2014-07-01

    Few data are available for patients with a late onset (≥ 50 years) of neuromyelitis optica (LONMO) or neuromyelitis optica spectrum disease (LONMOSD), defined by an optic neuritis/longitudinally extensive transverse myelitis with aquaporin-4 antibodies (AQP4-Ab). To characterize LONMO and LONMOSD, and to analyze their predictive factors of disability and death. We identified 430 patients from four cohorts of NMO/NMOSD in France, Germany, Turkey and UK. We extracted the late onset patients and analyzed them for predictive factors of disability and death, using the Cox proportional model. We followed up on 63 patients with LONMO and 45 with LONMOSD during a mean of 4.6 years. This LONMO/LONMOSD cohort was mainly of Caucasian origin (93%), women (80%), seropositive for AQP4-Ab (85%) and from 50 to 82.5 years of age at onset. No progressive course was noted. At last follow-up, the median Expanded Disability Status Scale (EDSS) scores were 5.5 and 6 in the LONMO and LONMOSD groups, respectively. Outcome was mainly characterized by motor disability and relatively good visual function. At last follow-up, 14 patients had died, including seven (50%) due to acute myelitis and six (43%) because of opportunistic infections. The EDSS 4 score was independently predicted by an older age at onset, as a continuous variable after 50 years of age. Death was predicted by two independent factors: an older age at onset and a high annualized relapse rate. LONMO/LONMOSD is particularly severe, with a high rate of motor impairment and death. © The Author(s) 2013.

  14. Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders.

    Science.gov (United States)

    Aziz, Azhari; Harrop, Sean P; Bishop, Naomi E

    2011-01-19

    Autism spectrum disorders (ASDs) are a group of commonly occurring, highly-heritable developmental disabilities. Human genes c3orf58 or Deleted In Autism-1 (DIA1) and cXorf36 or Deleted in Autism-1 Related (DIA1R) are implicated in ASD and mental retardation. Both gene products encode signal peptides for targeting to the secretory pathway. As evolutionary medicine has emerged as a key tool for understanding increasing numbers of human diseases, we have used an evolutionary approach to study DIA1 and DIA1R. We found DIA1 conserved from cnidarians to humans, indicating DIA1 evolution coincided with the development of the first primitive synapses. Nematodes lack a DIA1 homologue, indicating Caenorhabditis elegans is not suitable for studying all aspects of ASD etiology, while zebrafish encode two DIA1 paralogues. By contrast to DIA1, DIA1R was found exclusively in vertebrates, with an origin coinciding with the whole-genome duplication events occurring early in the vertebrate lineage, and the evolution of the more complex vertebrate nervous system. Strikingly, DIA1R was present in schooling fish but absent in fish that have adopted a more solitary lifestyle. An additional DIA1-related gene we named DIA1-Like (DIA1L), lacks a signal peptide and is restricted to the genomes of the echinoderm Strongylocentrotus purpuratus and cephalochordate Branchiostoma floridae. Evidence for remarkable DIA1L gene expansion was found in B. floridae. Amino acid alignments of DIA1 family gene products revealed a potential Golgi-retention motif and a number of conserved motifs with unknown function. Furthermore, a glycine and three cysteine residues were absolutely conserved in all DIA1-family proteins, indicating a critical role in protein structure and/or function. We have therefore identified a new metazoan protein family, the DIA1-family, and understanding the biological roles of DIA1-family members will have implications for our understanding of autism and mental retardation.

  15. Characterization of the deleted in autism 1 protein family: implications for studying cognitive disorders.

    Directory of Open Access Journals (Sweden)

    Azhari Aziz

    2011-01-01

    Full Text Available Autism spectrum disorders (ASDs are a group of commonly occurring, highly-heritable developmental disabilities. Human genes c3orf58 or Deleted In Autism-1 (DIA1 and cXorf36 or Deleted in Autism-1 Related (DIA1R are implicated in ASD and mental retardation. Both gene products encode signal peptides for targeting to the secretory pathway. As evolutionary medicine has emerged as a key tool for understanding increasing numbers of human diseases, we have used an evolutionary approach to study DIA1 and DIA1R. We found DIA1 conserved from cnidarians to humans, indicating DIA1 evolution coincided with the development of the first primitive synapses. Nematodes lack a DIA1 homologue, indicating Caenorhabditis elegans is not suitable for studying all aspects of ASD etiology, while zebrafish encode two DIA1 paralogues. By contrast to DIA1, DIA1R was found exclusively in vertebrates, with an origin coinciding with the whole-genome duplication events occurring early in the vertebrate lineage, and the evolution of the more complex vertebrate nervous system. Strikingly, DIA1R was present in schooling fish but absent in fish that have adopted a more solitary lifestyle. An additional DIA1-related gene we named DIA1-Like (DIA1L, lacks a signal peptide and is restricted to the genomes of the echinoderm Strongylocentrotus purpuratus and cephalochordate Branchiostoma floridae. Evidence for remarkable DIA1L gene expansion was found in B. floridae. Amino acid alignments of DIA1 family gene products revealed a potential Golgi-retention motif and a number of conserved motifs with unknown function. Furthermore, a glycine and three cysteine residues were absolutely conserved in all DIA1-family proteins, indicating a critical role in protein structure and/or function. We have therefore identified a new metazoan protein family, the DIA1-family, and understanding the biological roles of DIA1-family members will have implications for our understanding of autism and mental

  16. Increased Anterior Pelvic Angle Characterizes the Gait of Children with Attention Deficit/Hyperactivity Disorder (ADHD).

    Science.gov (United States)

    Naruse, Hiroaki; Fujisawa, Takashi X; Yatsuga, Chiho; Kubota, Masafumi; Matsuo, Hideaki; Takiguchi, Shinichiro; Shimada, Seiichiro; Imai, Yuto; Hiratani, Michio; Kosaka, Hirotaka; Tomoda, Akemi

    2017-01-01

    Children with attention deficit/hyperactivity disorder (ADHD) frequently have motor problems. Previous studies have reported that the characteristic gait in children with ADHD is immature and that subjects demonstrate higher levels of variability in gait characteristics for the lower extremities than healthy controls. However, little is known about body movement during gait in children with ADHD. The purpose of this study was to identify the characteristic body movements associated with ADHD symptoms in children with ADHD. Using a three-dimensional motion analysis system, we compared gait variables in boys with ADHD (n = 19; mean age, 9.58 years) and boys with typical development (TD) (n = 21; mean age, 10.71 years) to determine the specific gait characteristics related to ADHD symptoms. We assessed spatiotemporal gait variables (i.e. speed, stride length, and cadence), and kinematic gait variables (i.e. angle of pelvis, hip, knee, and ankle) to measure body movement when walking at a self-selected pace. In comparison with the TD group, the ADHD group demonstrated significantly higher values in cadence (t = 3.33, p = 0.002) and anterior pelvic angle (t = 3.08, p = 0.004). In multiple regression analysis, anterior pelvic angle was associated with the ADHD rating scale hyperactive/impulsive scores (β = 0.62, t = 2.58, p = 0.025), but not other psychiatric symptoms in the ADHD group. Our results suggest that anterior pelvic angle represents a specific gait variable related to ADHD symptoms. Our kinematic findings could have potential implications for evaluating the body movement in boys with ADHD.

  17. Prevalence and characterization of neonatal skin disorders in the first 72h of life.

    Science.gov (United States)

    Reginatto, Flávia Pereira; DeVilla, Damie; Muller, Fernanda M; Peruzzo, Juliano; Peres, Letícia P; Steglich, Raquel B; Cestari, Tania F

    To determine the prevalence of neonatal dermatological findings and analyze whether there is an association between these findings and neonatal and pregnancy characteristics and seasonality. Newborns from three maternity hospitals in a Brazilian capital city were randomly selected to undergo dermatological assessment by dermatologists. 2938 neonates aged up to three days of life were randomly selected, of whom 309 were excluded due to Intensive Care Unit admission. Of the 2530 assessed neonates, 49.6% were Caucasians, 50.5% were males, 57.6% were born by vaginal delivery, and 92.5% of the mothers received prenatal care. Some dermatological finding was observed in 95.8% of neonates; of these, 88.6% had transient neonatal skin conditions, 42.6% had congenital birthmarks, 26.8% had some benign neonatal pustulosis, 2% had lesions secondary to trauma (including scratches), 0.5% had skin malformations, and 0.1% had an infectious disease. The most prevalent dermatological findings were: lanugo, which was observed in 38.9% of the newborns, sebaceous hyperplasia (35%), dermal melanocytosis (24.61%), skin desquamation (23.3%), erythema toxicum neonatorum (23%), salmon patch (20.4%), skin erythema (19%), genital hyperpigmentation (18.4%), eyelid edema (17.4%), milia (17.3%), genital hypertrophy (12%), and skin xerosis (10.9%). Dermatological findings are frequent during the first days of life and some of them characterize the newborn's skin. Mixed-race newborns and those whose mothers had some gestational risk factor had more dermatological findings. The gestational age, newborn's ethnicity, gender, Apgar at the first and fifth minutes of life, type of delivery, and seasonality influenced the presence of specific neonatal dermatological findings. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  18. Prevalence and characterization of neonatal skin disorders in the first 72 h of life

    Directory of Open Access Journals (Sweden)

    Flávia Pereira Reginatto

    2017-05-01

    Full Text Available Objective: To determine the prevalence of neonatal dermatological findings and analyze whether there is an association between these findings and neonatal and pregnancy characteristics and seasonality. Methods: Newborns from three maternity hospitals in a Brazilian capital city were randomly selected to undergo dermatological assessment by dermatologists. Results: 2938 neonates aged up to three days of life were randomly selected, of whom 309 were excluded due to Intensive Care Unit admission. Of the 2530 assessed neonates, 49.6% were Caucasians, 50.5% were males, 57.6% were born by vaginal delivery, and 92.5% of the mothers received prenatal care. Some dermatological finding was observed in 95.8% of neonates; of these, 88.6% had transient neonatal skin conditions, 42.6% had congenital birthmarks, 26.8% had some benign neonatal pustulosis, 2% had lesions secondary to trauma (including scratches, 0.5% had skin malformations, and 0.1% had an infectious disease. The most prevalent dermatological findings were: lanugo, which was observed in 38.9% of the newborns, sebaceous hyperplasia (35%, dermal melanocytosis (24.61%, skin desquamation (23.3%, erythema toxicum neonatorum (23%, salmon patch (20.4%, skin erythema (19%, genital hyperpigmentation (18.4%, eyelid edema (17.4%, milia (17.3%, genital hypertrophy (12%, and skin xerosis (10.9%. Conclusions: Dermatological findings are frequent during the first days of life and some of them characterize the newborn's skin. Mixed-race newborns and those whose mothers had some gestational risk factor had more dermatological findings. The gestational age, newborn's ethnicity, gender, Apgar at the first and fifth minutes of life, type of delivery, and seasonality influenced the presence of specific neonatal dermatological findings. Resumo: Objetivo: Verificar a prevalência dos achados dermatológicos nos primeiros dias de vida e analisar se há associação com características neonatais, gestacionais e

  19. Bipolar disorders

    DEFF Research Database (Denmark)

    Vieta, Eduard; Berk, Michael; Schulze, Thomas G

    2018-01-01

    Bipolar disorders are chronic and recurrent disorders that affect >1% of the global population. Bipolar disorders are leading causes of disability in young people as they can lead to cognitive and functional impairment and increased mortality, particularly from suicide and cardiovascular disease...... and accurate diagnosis is difficult in clinical practice as the onset of bipolar disorder is commonly characterized by nonspecific symptoms, mood lability or a depressive episode, which can be similar in presentation to unipolar depression. Moreover, patients and their families do not always understand...... a bipolar disorder from other conditions. Optimal early treatment of patients with evidence-based medication (typically mood stabilizers and antipsychotics) and psychosocial strategies is necessary....

  20. A J-modulated protonless NMR experiment characterizes the conformational ensemble of the intrinsically disordered protein WIP

    Energy Technology Data Exchange (ETDEWEB)

    Rozentur-Shkop, Eva; Goobes, Gil; Chill, Jordan H., E-mail: Jordan.Chill@biu.ac.il [Bar Ilan University, Department of Chemistry (Israel)

    2016-12-15

    Intrinsically disordered proteins (IDPs) are multi-conformational polypeptides that lack a single stable three-dimensional structure. It has become increasingly clear that the versatile IDPs play key roles in a multitude of biological processes, and, given their flexible nature, NMR is a leading method to investigate IDP behavior on the molecular level. Here we present an IDP-tailored J-modulated experiment designed to monitor changes in the conformational ensemble characteristic of IDPs by accurately measuring backbone one- and two-bond J({sup 15}N,{sup 13}Cα) couplings. This concept was realized using a unidirectional (H)NCO {sup 13}C-detected experiment suitable for poor spectral dispersion and optimized for maximum coverage of amino acid types. To demonstrate the utility of this approach we applied it to the disordered actin-binding N-terminal domain of WASp interacting protein (WIP), a ubiquitous key modulator of cytoskeletal changes in a range of biological systems. One- and two-bond J({sup 15}N,{sup 13}Cα) couplings were acquired for WIP residues 2–65 at various temperatures, and in denaturing and crowding environments. Under native conditions fitted J-couplings identified in the WIP conformational ensemble a propensity for extended conformation at residues 16–23 and 45–60, and a helical tendency at residues 28–42. These findings are consistent with a previous study of the based upon chemical shift and RDC data and confirm that the WIP{sup 2–65} conformational ensemble is biased towards the structure assumed by this fragment in its actin-bound form. The effects of environmental changes upon this ensemble were readily apparent in the J-coupling data, which reflected a significant decrease in structural propensity at higher temperatures, in the presence of 8 M urea, and under the influence of a bacterial cell lysate. The latter suggests that crowding can cause protein unfolding through protein–protein interactions that stabilize the unfolded

  1. Characterizing sexual function in patients with generalized anxiety disorder: a pooled analysis of three vilazodone studies

    Directory of Open Access Journals (Sweden)

    Clayton AH

    2016-06-01

    Full Text Available Anita H Clayton,1 Suresh Durgam,2 Xiongwen Tang,2 Changzheng Chen,2 Adam Ruth,3 Carl Gommoll2 1Department of Psychiatry and Neurobehavioral Sciences, University of Virginia, Charlottesville, VA, 2Forest Research Institute, Jersey City, NJ, 3Prescott Medical Communications Group, Chicago, IL, USA Background: Vilazodone has been shown to reduce core symptoms of generalized anxiety disorder (GAD in three randomized, double-blind, placebo-controlled trials. Since sexual dysfunction (SD is not well characterized in GAD, a post hoc analysis of these trials was conducted to evaluate the effects of vilazodone on sexual functioning in GAD patients. Materials and methods: Data were pooled from one fixed-dose trial of vilazodone 20 and 40 mg/day (NCT01629966 and two flexible-dose studies of vilazodone 20–40 mg/day (NCT01766401, NCT01844115 in adults with GAD. Sexual functioning was assessed using the Changes in Sexual Functioning Questionnaire (CSFQ. Outcomes included mean change from baseline to end of treatment (EOT in CSFQ total score and percentage of patients shifting from SD at baseline (CSFQ total score ≤47 for males, ≤41 for females to normal functioning at EOT. Treatment-emergent adverse events related to sexual functioning were also analyzed. Results: A total of 1,373 patients were included in the analyses. SD at baseline was more common in females (placebo, 46.4%; vilazodone, 49% than in males (placebo, 35.1%; vilazodone, 40.9%. CSFQ total score improvement was found in both females (placebo, +1.2; vilazodone, +1.6 and males (placebo, +2.1; vilazodone, +1.0, with no statistically significant differences between treatment groups. The percentage of patients who shifted from SD at baseline to normal sexual functioning at EOT was higher in males (placebo, 40.6%; vilazodone, 35.7% than in females (placebo, 24.9%; vilazodone, 34.9%; no statistical testing was performed. Except for erectile dysfunction and delayed ejaculation in vilazodone

  2. Conduct disorders

    NARCIS (Netherlands)

    Buitelaar, J.K.; Smeets, K.C.; Herpers, P.; Scheepers, F.; Glennon, J.; Rommelse, N.N.J.

    2013-01-01

    Conduct disorder (CD) is a frequently occurring psychiatric disorder characterized by a persistent pattern of aggressive and non-aggressive rule breaking antisocial behaviours that lead to considerable burden for the patients themselves, their family and society. This review paper updates diagnostic

  3. Oral Language Impairments in Developmental Disorders Characterized by Language Strengths: A Comparison of Asperger Syndrome and Nonverbal Learning Disabilities

    Science.gov (United States)

    Stothers, M. E.; Cardy, J. Oram

    2012-01-01

    Asperger syndrome (AS) and nonverbal learning disabilities (NLD) are developmental disorders in which linguistic ability is reported to be stronger than in disorders from which they must be distinguished for diagnosis. Children and adults with AS and NLD share pragmatic weaknesses, atypical social behaviours, and some cognitive features. To date,…

  4. Brain iron accumulation affects myelin-related molecular systems implicated in a rare neurogenetic disease family with neuropsychiatric features.

    Science.gov (United States)

    Heidari, M; Johnstone, D M; Bassett, B; Graham, R M; Chua, A C G; House, M J; Collingwood, J F; Bettencourt, C; Houlden, H; Ryten, M; Olynyk, J K; Trinder, D; Milward, E A

    2016-11-01

    The 'neurodegeneration with brain iron accumulation' (NBIA) disease family entails movement or cognitive impairment, often with psychiatric features. To understand how iron loading affects the brain, we studied mice with disruption of two iron regulatory genes, hemochromatosis (Hfe) and transferrin receptor 2 (Tfr2). Inductively coupled plasma atomic emission spectroscopy demonstrated increased iron in the Hfe -/- × Tfr2 mut brain (P=0.002, n ≥5/group), primarily localized by Perls' staining to myelinated structures. Western immunoblotting showed increases of the iron storage protein ferritin light polypeptide and microarray and real-time reverse transcription-PCR revealed decreased transcript levels (Pgross myelin structure and integrity appear unaffected (P>0.05). Overlap (P0.05). These results implicate myelin-related systems involved in NBIA neuropathogenesis in early responses to iron loading. This may contribute to behavioral symptoms in NBIA and hemochromatosis and is relevant to patients with abnormal iron status and psychiatric disorders involving myelin abnormalities or resistant to conventional treatments.

  5. Coupling Neurogenetics (GARS™) and a Nutrigenomic Based Dopaminergic Agonist to Treat Reward Deficiency Syndrome (RDS): Targeting Polymorphic Reward Genes for Carbohydrate Addiction Algorithms.

    Science.gov (United States)

    Blum, Kenneth; Simpatico, Thomas; Badgaiyan, Rajendra D; Demetrovics, Zsolt; Fratantonio, James; Agan, Gozde; Febo, Marcelo; Gold, Mark S

    Earlier work from our laboratory, showing anti-addiction activity of a nutraceutical consisting of amino-acid precursors and enkephalinase inhibition properties and our discovery of the first polymorphic gene (Dopamine D2 Receptor Gene [DRD2]) to associate with severe alcoholism serves as a blue-print for the development of "Personalized Medicine" in addiction. Prior to the later genetic finding, we developed the concept of Brain Reward Cascade, which continues to act as an important component for stratification of addiction risk through neurogenetics. In 1996 our laboratory also coined the term "Reward Deficiency Syndrome (RDS)" to define a common genetic rubric for both substance and non-substance related addictive behaviors. Following many reiterations we utilized polymorphic targets of a number of reward genes (serotonergic, Opioidergic, GABAergic and Dopaminergic) to customize KB220 [Neuroadaptogen- amino-acid therapy (NAAT)] by specific algorithms. Identifying 1,000 obese subjects in the Netherlands a subsequent small subset was administered various KB220Z formulae customized according to respective DNA polymorphisms individualized that translated to significant decreases in both Body Mass Index (BMI) and weight in pounds. Following these experiments, we have been successfully developing a panel of genes known as "Genetic Addiction Risk Score" (GARSp DX )™. Selection of 10 genes with appropriate variants, a statistically significant association between the ASI-Media Version-alcohol and drug severity scores and GARSp Dx was found A variant of KB220Z in abstinent heroin addicts increased resting state functional connectivity in a putative network including: dorsal anterior cingulate, medial frontal gyrus, nucleus accumbens, posterior cingulate, occipital cortical areas, and cerebellum. In addition, we show that KB220Z significantly activates, above placebo, seed regions of interest including the left nucleus accumbens, cingulate gyrus, anterior thalamic

  6. Coupling Neurogenetics (GARS™) and a Nutrigenomic Based Dopaminergic Agonist to Treat Reward Deficiency Syndrome (RDS): Targeting Polymorphic Reward Genes for Carbohydrate Addiction Algorithms

    Science.gov (United States)

    Blum, Kenneth; Simpatico, Thomas; Badgaiyan, Rajendra D.; Demetrovics, Zsolt; Fratantonio, James; Agan, Gozde; Febo, Marcelo; Gold, Mark S.

    2016-01-01

    Earlier work from our laboratory, showing anti-addiction activity of a nutraceutical consisting of amino-acid precursors and enkephalinase inhibition properties and our discovery of the first polymorphic gene (Dopamine D2 Receptor Gene [DRD2]) to associate with severe alcoholism serves as a blue-print for the development of “Personalized Medicine” in addiction. Prior to the later genetic finding, we developed the concept of Brain Reward Cascade, which continues to act as an important component for stratification of addiction risk through neurogenetics. In 1996 our laboratory also coined the term “Reward Deficiency Syndrome (RDS)” to define a common genetic rubric for both substance and non-substance related addictive behaviors. Following many reiterations we utilized polymorphic targets of a number of reward genes (serotonergic, Opioidergic, GABAergic and Dopaminergic) to customize KB220 [Neuroadaptogen- amino-acid therapy (NAAT)] by specific algorithms. Identifying 1,000 obese subjects in the Netherlands a subsequent small subset was administered various KB220Z formulae customized according to respective DNA polymorphisms individualized that translated to significant decreases in both Body Mass Index (BMI) and weight in pounds. Following these experiments, we have been successfully developing a panel of genes known as “Genetic Addiction Risk Score” (GARSpDX)™. Selection of 10 genes with appropriate variants, a statistically significant association between the ASI-Media Version-alcohol and drug severity scores and GARSpDx was found A variant of KB220Z in abstinent heroin addicts increased resting state functional connectivity in a putative network including: dorsal anterior cingulate, medial frontal gyrus, nucleus accumbens, posterior cingulate, occipital cortical areas, and cerebellum. In addition, we show that KB220Z significantly activates, above placebo, seed regions of interest including the left nucleus accumbens, cingulate gyrus, anterior

  7. TMEM199 Deficiency Is a Disorder of Golgi Homeostasis Characterized by Elevated Aminotransferases, Alkaline Phosphatase, and Cholesterol and Abnormal Glycosylation

    NARCIS (Netherlands)

    Jansen, Jos C.; Timal, Sharita; van Scherpenzeel, Monique; Michelakakis, Helen; Vicogne, Dorothée; Ashikov, Angel; Moraitou, Marina; Hoischen, Alexander; Huijben, Karin; Steenbergen, Gerry; van den Boogert, Marjolein A. W.; Porta, Francesco; Calvo, Pier Luigi; Mavrikou, Mersyni; Cenacchi, Giovanna; van den Bogaart, Geert; Salomon, Jody; Holleboom, Adriaan G.; Rodenburg, Richard J.; Drenth, Joost P. H.; Huynen, Martijn A.; Wevers, Ron A.; Morava, Eva; Foulquier, François; Veltman, Joris A.; Lefeber, Dirk J.

    2016-01-01

    Congenital disorders of glycosylation (CDGs) form a genetically and clinically heterogeneous group of diseases with aberrant protein glycosylation as a hallmark. A subgroup of CDGs can be attributed to disturbed Golgi homeostasis. However, identification of pathogenic variants is seriously

  8. [Eating disorders].

    Science.gov (United States)

    Miyake, Yoshie; Okamoto, Yuri; Jinnin, Ran; Shishida, Kazuhiro; Okamoto, Yasumasa

    2015-02-01

    Eating disorders are characterized by aberrant patterns of eating behavior, including such symptoms as extreme restriction of food intake or binge eating, and severe disturbances in the perception of body shape and weight, as well as a drive for thinness and obsessive fears of becoming fat. Eating disorder is an important cause for physical and psychosocial morbidity in young women. Patients with eating disorders have a deficit in the cognitive process and functional abnormalities in the brain system. Recently, brain-imaging techniques have been used to identify specific brain areas that function abnormally in patients with eating disorders. We have discussed the clinical and cognitive aspects of eating disorders and summarized neuroimaging studies of eating disorders.

  9. Neurogenetic and epigenetic correlates of adolescent predisposition to and risk for addictive behaviors as a function of prefrontal cortex dysregulation.

    Science.gov (United States)

    Blum, Kenneth; Febo, Marcelo; Smith, David E; Roy, A Kenison; Demetrovics, Zsolt; Cronjé, Frans J; Femino, John; Agan, Gozde; Fratantonio, James L; Pandey, Subhash C; Badgaiyan, Rajendra D; Gold, Mark S

    2015-05-01

    As addiction professionals, we are becoming increasingly concerned about preteenagers and young adults' involvement with substance abuse as a way of relieving stress and anger. The turbulent underdeveloped central nervous system, especially in the prefrontal cortex (PFC), provides impetus to not only continue important neuroimaging studies in both human and animal models, but also to encourage preventive measures and cautions embraced by governmental and social media outlets. It is well known that before people reach their 20s, PFC development is undergoing significant changes and, as such, hijacks appropriate decision making in this population. We are further proposing that early genetic testing for addiction risk alleles will offer important information that could potentially be utilized by their parents and caregivers prior to use of psychoactive drugs by these youth. Understandably, family history, parenting styles, and attachment may be modified by various reward genes, including the known bonding substances oxytocin/vasopressin, which effect dopaminergic function. Well-characterized neuroimaging studies continue to reflect region-specific differential responses to drugs and food (including other non-substance-addictive behaviors) via either "surfeit" or "deficit." With this in mind, we hereby propose a "reward deficiency solution system" that combines early genetic risk diagnosis, medical monitoring, and nutrigenomic dopamine agonist modalities to combat this significant global dilemma that is preventing our youth from leading normal productive lives, which will in turn make them happier.

  10. Fanconi Anemia: A DNA repair disorder characterized by accelerated decline of the hematopoietic stem cell compartment and other features of aging.

    Science.gov (United States)

    Brosh, Robert M; Bellani, Marina; Liu, Yie; Seidman, Michael M

    2017-01-01

    Fanconi Anemia (FA) is a rare autosomal genetic disorder characterized by progressive bone marrow failure (BMF), endocrine dysfunction, cancer, and other clinical features commonly associated with normal aging. The anemia stems directly from an accelerated decline of the hematopoietic stem cell compartment. Although FA is a complex heterogeneous disease linked to mutations in 19 currently identified genes, there has been much progress in understanding the molecular pathology involved. FA is broadly considered a DNA repair disorder and the FA gene products, together with other DNA repair factors, have been implicated in interstrand cross-link (ICL) repair. However, in addition to the defective DNA damage response, altered epigenetic regulation, and telomere defects, FA is also marked by elevated levels of inflammatory mediators in circulation, a hallmark of faster decline in not only other hereditary aging disorders but also normal aging. In this review, we offer a perspective of FA as a monogenic accelerated aging disorder, citing the latest evidence for its multi-factorial deficiencies underlying its unique clinical and cellular features. Published by Elsevier B.V.

  11. Generalized Anxiety Disorder (GAD) and Comorbid Major Depression with GAD Are Characterized by Enhanced Nitro-oxidative Stress, Increased Lipid Peroxidation, and Lowered Lipid-Associated Antioxidant Defenses.

    Science.gov (United States)

    Maes, Michael; Bonifacio, Kamila Landucci; Morelli, Nayara Rampazzo; Vargas, Heber Odebrecht; Moreira, Estefânia Gastaldello; St Stoyanov, Drozdstoy; Barbosa, Décio Sabbatini; Carvalho, André F; Nunes, Sandra Odebrecht Vargas

    2018-05-07

    Accumulating evidence shows that nitro-oxidative pathways play an important role in the pathophysiology of major depressive disorder (MDD) and bipolar disorder (BD) and maybe anxiety disorders. The current study aims to examine superoxide dismutase (SOD1), catalase, lipid hydroperoxides (LOOH), nitric oxide metabolites (NOx), advanced oxidation protein products (AOPP), malondialdehyde (MDA), glutathione (GSH), paraoxonase 1 (PON1), high-density lipoprotein cholesterol (HDL), and uric acid (UA) in participants with and without generalized anxiety disorder (GAD) co-occurring or not with BD, MDD, or tobacco use disorder. Z unit-weighted composite scores were computed as indices of nitro-oxidative stress driving lipid and protein oxidation. SOD1, LOOH, NOx, and uric acid were significantly higher and HDL and PON1 significantly lower in participants with GAD than in those without GAD. GAD was more adequately predicted by increased SOD + LOOH + NOx and lowered HDL + PON1 composite scores. Composite scores of nitro-oxidative stress coupled with aldehyde and AOPP production were significantly increased in participants with comorbid GAD + MDD as compared with all other study groups, namely MDD, GAD + BD, BD, GAD, and healthy controls. In conclusion, GAD is characterized by increased nitro-oxidative stress and lipid peroxidation and lowered lipid-associated antioxidant defenses, while increased uric acid levels in GAD may protect against aldehyde production and protein oxidation. This study suggests that increased nitro-oxidative stress and especially increased SOD1 activity, NO production, and lipid peroxidation as well as lowered HDL-cholesterol and PON1 activity could be novel drug targets for GAD especially when comorbid with MDD.

  12. Characterizing Early Psychosocial Functioning of Parents of Children with Moderate to Severe Genital Ambiguity due to Disorders of Sex Development.

    Science.gov (United States)

    Suorsa, Kristina I; Mullins, Alexandria J; Tackett, Alayna P; Reyes, Kristy J Scott; Austin, Paul; Baskin, Laurence; Bernabé, Kerlly; Cheng, Earl; Fried, Allyson; Frimberger, Dominic; Galan, Denise; Gonzalez, Lynette; Greenfield, Saul; Kropp, Bradley; Meyer, Sabrina; Meyer, Theresa; Nokoff, Natalie; Palmer, Blake; Poppas, Dix; Paradis, Alethea; Yerkes, Elizabeth; Wisniewski, Amy B; Mullins, Larry L

    2015-12-01

    We examined the psychosocial characteristics of parents of children with disorders of sex development at early presentation to a disorders of sex development clinic. Parental anxiety, depression, quality of life, illness uncertainty and posttraumatic stress symptoms were assessed. Additionally we evaluated the relationship of assigned child gender to parental outcomes. A total of 51 parents of children with ambiguous or atypical genitalia were recruited from 7 centers specializing in treatment of disorders of sex development. At initial assessment no child had undergone genitoplasty. Parents completed the Cosmetic Appearance Rating Scale, Beck Anxiety Inventory, Beck Depression Inventory, SF-36, Parent Perception of Uncertainty Scale and Impact of Event Scale-Revised. A large percentage of parents (54.5%) were dissatisfied with the genital appearance of their child, and a small but significant percentage reported symptoms of anxiety, depression, diminished quality of life, uncertainty and posttraumatic stress. Few gender differences emerged. Although many parents function well, a subset experience significant psychological distress around the time of diagnosis of a disorder of sex development in their child. Early screening to assess the need for psychosocial interventions is warranted. Copyright © 2015 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

  13. Array-CGH Analysis in a Cohort of Phenotypically Well-Characterized Individuals with "Essential" Autism Spectrum Disorders

    Science.gov (United States)

    Napoli, Eleonora; Russo, Serena; Casula, Laura; Alesi, Viola; Amendola, Filomena Alessandra; Angioni, Adriano; Novelli, Antonio; Valeri, Giovanni; Menghini, Deny; Vicari, Stefano

    2018-01-01

    Copy-number variants (CNVs) are associated with susceptibility to autism spectrum disorder (ASD). To detect the presence of CNVs, we conducted an array-comparative genomic hybridization (array-CGH) analysis in 133 children with "essential" ASD phenotype. Genetic analyses documented that 12 children had causative CNVs (C-CNVs), 29…

  14. A brief historicity of the Diagnostic and Statistical Manual of Mental Disorders: Issues and implications for the future of psychiatric canon and practice

    Directory of Open Access Journals (Sweden)

    Kawa Shadia

    2012-01-01

    Full Text Available Abstract The Diagnostic and Statistical Manual (DSM of the American Psychiatric Association, currently in its fourth edition and considered the reference for the characterization and diagnosis of mental disorders, has undergone various developments since its inception in the mid-twentieth century. With the fifth edition of the DSM presently in field trials for release in 2013, there is renewed discussion and debate over the extent of its relative successes - and shortcomings - at iteratively incorporating scientific evidence on the often ambiguous nature and etiology of mental illness. Given the power that the DSM has exerted both within psychiatry and society at large, this essay seeks to analyze variations in content and context of various editions of the DSM, address contributory influences and repercussion of such variations on the evolving landscape of psychiatry as discipline and practice over the past sixty years. Specifically, we document major modifications in the definition, characterization, and classification of mental disorders throughout successive editions of the DSM, in light of shifting trends in the conceptualization of psychopathology within evolving schools of thought in psychiatry, and in the context of progress in behavioral and psychopharmacological therapeutics over time. We touch upon the social, political, and financial environments in which these changes took places, address the significance of these changes with respect to the legitimacy (and legitimization of what constitutes mental illness and health, and examine the impact and implications of these changes on psychiatric practice, research, and teaching. We argue that problematic issues in psychiatry, arguably reflecting the large-scale adoption of the DSM, may be linked to difficulties in formulating a standardized nosology of psychopathology. In this light, we highlight 1 issues relating to attempts to align the DSM with the medical model, with regard to

  15. A brief historicity of the Diagnostic and Statistical Manual of Mental Disorders: issues and implications for the future of psychiatric canon and practice.

    Science.gov (United States)

    Kawa, Shadia; Giordano, James

    2012-01-13

    The Diagnostic and Statistical Manual (DSM) of the American Psychiatric Association, currently in its fourth edition and considered the reference for the characterization and diagnosis of mental disorders, has undergone various developments since its inception in the mid-twentieth century. With the fifth edition of the DSM presently in field trials for release in 2013, there is renewed discussion and debate over the extent of its relative successes - and shortcomings - at iteratively incorporating scientific evidence on the often ambiguous nature and etiology of mental illness. Given the power that the DSM has exerted both within psychiatry and society at large, this essay seeks to analyze variations in content and context of various editions of the DSM, address contributory influences and repercussion of such variations on the evolving landscape of psychiatry as discipline and practice over the past sixty years. Specifically, we document major modifications in the definition, characterization, and classification of mental disorders throughout successive editions of the DSM, in light of shifting trends in the conceptualization of psychopathology within evolving schools of thought in psychiatry, and in the context of progress in behavioral and psychopharmacological therapeutics over time. We touch upon the social, political, and financial environments in which these changes took places, address the significance of these changes with respect to the legitimacy (and legitimization) of what constitutes mental illness and health, and examine the impact and implications of these changes on psychiatric practice, research, and teaching. We argue that problematic issues in psychiatry, arguably reflecting the large-scale adoption of the DSM, may be linked to difficulties in formulating a standardized nosology of psychopathology. In this light, we highlight 1) issues relating to attempts to align the DSM with the medical model, with regard to increasing specificity in the

  16. Neuropsychopharmacology and neurogenetic aspects of executive functioning: should reward gene polymorphisms constitute a diagnostic tool to identify individuals at risk for impaired judgment?

    Science.gov (United States)

    Bowirrat, Abdalla; Chen, Thomas J H; Oscar-Berman, Marlene; Madigan, Margaret; Chen, Amanda Lh; Bailey, John A; Braverman, Eric R; Kerner, Mallory; Giordano, John; Morse, Siobhan; Downs, B William; Waite, Roger L; Fornari, Frank; Armaly, Zaher; Blum, Kenneth

    2012-04-01

    Executive functions are processes that act in harmony to control behaviors necessary for maintaining focus and achieving outcomes. Executive dysfunction in neuropsychiatric disorders is attributed to structural or functional pathology of brain networks involving prefrontal cortex (PFC) and its connections with other brain regions. The PFC receives innervations from different neurons associated with a number of neurotransmitters, especially dopamine (DA). Here we review findings on the contribution of PFC DA to higher-order cognitive and emotional behaviors. We suggest that examination of multifactorial interactions of an individual's genetic history, along with environmental risk factors, can assist in the characterization of executive functioning for that individual. Based upon the results of genetic studies, we also propose genetic mapping as a probable diagnostic tool serving as a therapeutic adjunct for augmenting executive functioning capabilities. We conclude that preservation of the neurological underpinnings of executive functions requires the integrity of complex neural systems including the influence of specific genes and associated polymorphisms to provide adequate neurotransmission.

  17. Neuropsychopharmacology and Neurogenetic Aspects of Executive Functioning: Should Reward Gene Polymorphisms Constitute a Diagnostic Tool to Identify Individuals at Risk for Impaired Judgment?

    Science.gov (United States)

    Bowirrat, Abdalla; Chen, Thomas JH; Oscar-Berman, Marlene; Madigan, Margaret; Chen, Amanda LH; Bailey, John A.; Braverman, Eric R.; Kerner, Mallory; Giordano, John; Morse, Siohban; Downs, B. William; Waite, Roger L.; Fornari, Frank; Armaly, Zaher; Blum, Kenneth

    2013-01-01

    Executive functions are processes that act in harmony to control behaviors necessary for maintaining focus and achieving outcomes. Executive dysfunction in neuropsychiatric disorders is attributed to structural or functional pathology of brain networks involving prefrontal cortex (PFC) and its connections with other brain regions. The PFC receives innervations from different neurons associated with a number of neurotransmitters, especially dopamine (DA). Here we review findings on the contribution of PFC DA to higher-order cognitive and emotional behaviors. We suggest examination of multifactorial interactions of an individual’s genetic history, along with environmental risk factors, can assist in the characterization of executive functioning for that individual. Based upon the results of genetic studies we also propose genetic mapping as a probable diagnostic tool serving as a therapeutic adjunct for augmenting executive functioning capabilities. We conclude that preservation of the neurological underpinnings of executive functions requires the integrity of complex neural systems including the influence of specific genes and associated polymorphisms to provide adequate neurotransmission. PMID:22371275

  18. Avoidant/Restrictive Food Intake Disorder

    Science.gov (United States)

    ... Eating Disorder Bulimia Nervosa Pica Rumination Disorder Avoidant/restrictive food intake disorder is characterized by eating very little food and/or avoiding eating certain foods. People with this disorder eat ...

  19. Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.

    Science.gov (United States)

    Smith, Corrine O; Lipe, Hillary P; Bird, Thomas D

    2004-06-01

    With the exception of Huntington disease, the psychological and psychosocial impact of DNA testing for neurogenetic disorders has not been well studied. To evaluate the psychosocial impact of genetic testing for autosomal dominant forms of hereditary ataxia and neuromuscular disorders. Patients Fifty subjects at risk for autosomal dominant forms of spinocerebellar ataxia (n = 11), muscular dystrophy (n = 28), and hereditary neuropathy (n = 12). A prospective, descriptive, observational study in a university setting of individuals who underwent genetic counseling and DNA testing. Participants completed 3 questionnaires before testing and at regular intervals after testing. The questionnaire set included the Revised Impact of Event Scale, the Hospital Anxiety and Depression Scale, demographic information, and an assessment of attitudes and feelings about genetic testing. Thirty-nine subjects (78%) completed 6 months to 5 years of posttest follow-up. Common reasons for pursuing genetic testing were to provide an explanation for symptoms, emotional relief, and information for future planning. Thirty-four (68%) had positive and 16 (32%) had negative genetic results. In those with a positive result, 26 (76%) had nonspecific signs or symptoms of the relevant disorder. Forty-two participants (84%) felt genetic testing was beneficial. Groups with positive and negative test results coped well with results. However, 13 subjects (10 with positive and 3 with negative results) reported elevated anxiety levels, and 3 (1 with positive and 2 with negative results) expressed feelings of depression during the follow-up period. The test result was not predictive of anxiety or depression. Most individuals find neurogenetic testing to be beneficial, regardless of the result. Anxiety or depression may persist in some persons with positive or negative test results. Testing can have a demonstrable impact on family planning and interpersonal relationships. Further studies are needed to

  20. Clinical neurogenetics: amyotrophic lateral sclerosis.

    Science.gov (United States)

    Harms, Matthew B; Baloh, Robert H

    2013-11-01

    Our understanding of amyotrophic lateral sclerosis (ALS), a fatal neurodegenerative disease, is expanding rapidly as its genetic causes are uncovered. The pace of new gene discovery over the last 5 years has accelerated, providing new insights into the pathogenesis of disease and highlighting biological pathways as targets for therapeutic development. This article reviews our current understanding of the heritability of ALS and provides an overview of each of the major ALS genes, highlighting their phenotypic characteristics and frequencies as a guide for clinicians evaluating patients with ALS. Copyright © 2013 Elsevier Inc. All rights reserved.

  1. Clinical Neurogenetics: Amyotrophic Lateral Sclerosis

    Science.gov (United States)

    Harms, Matthew B.; Baloh, Robert H.

    2013-01-01

    Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease, about which our understanding is expanding rapidly as its genetic causes are uncovered. The pace of new gene discovery over the last 5 years has accelerated, providing new insights into the pathogenesis of disease and highlighting biological pathways for target for therapeutic development. This article reviews our current understanding of the heritability of ALS, provides an overview of each of the major ALS genes, highlighting their phenotypic characteristics and frequencies as a guide for clinicians evaluating patients with ALS. PMID:24176417

  2. Longitudinal Follow-up of Autism Spectrum Features and Sensory Behaviors in Angelman Syndrome by Deletion Class

    Science.gov (United States)

    Peters, Sarika U.; Horowitz, Lucia; Barbieri-Welge, Rene; Taylor, Julie Lounds; Hundley, Rachel J.

    2012-01-01

    Background: Angelman syndrome (AS) is a neurogenetic disorder characterized by severe intellectual disability, lack of speech, and low threshold for laughter; it is considered a "syndromic" form of autism spectrum disorder (ASD). Previous studies have indicated overlap of ASD and AS, primarily in individuals with larger (approximately 6 Mb) Class…

  3. Teaching Discriminated Social Approaches to Individuals with Angelman Syndrome

    Science.gov (United States)

    Fichtner, Caitlin S.; Tiger, Jeffrey H.

    2015-01-01

    Angelman syndrome is a neurogenetic disorder characterized by intellectual and developmental disability. Common behavioral characteristics of this disorder include a heightened interest in social interactions and frequent bids to initiate interaction. These bids can be problematic, for instance, when a child attempts to hug strangers in public…

  4. Characterizing crystal disorder of trospium chloride: a comprehensive,(13) C CP/MAS NMR, DSC, FTIR, and XRPD study.

    Science.gov (United States)

    Urbanova, Martina; Sturcova, Adriana; Brus, Jiri; Benes, Hynek; Skorepova, Eliska; Kratochvil, Bohumil; Cejka, Jan; Sedenkova, Ivana; Kobera, Libor; Policianova, Olivia; Sturc, Antonin

    2013-04-01

    Analysis of C cross-polarization magic angle spinning (CP/MAS) nuclear magnetic resonance (NMR), differential scanning calorimetry (DSC), Fourier transform infrared (FTIR), and X-ray powder diffraction data of trospium chloride (TCl) products crystallized from different mixtures of water-ethanol [φ(EtOH) = 0.5-1.0] at various temperatures (0°C, 20°C) and initial concentrations (saturated solution, 30%-50% excess of solvent) revealed extensive structural variability of TCl. Although (13) C CP/MAS NMR spectra indicated broad variety of structural phases arising from molecular disorder, temperature-modulated DSC identified presence of two distinct components in the products. FTIR spectra revealed alterations in the hydrogen bonding network (ionic hydrogen bond formation), whereas the X-ray diffraction reflected unchanged unit cell parameters. These results were explained by a two-component character of TCl products in which a dominant polymorphic form is accompanied by partly separated nanocrystalline domains of a secondary phase that does not provide clear Bragg reflections. These phases slightly differ in the degree of molecular disorder, in the quality of crystal lattice and hydrogen bonding network. It is also demonstrated that, for the quality control of such complex products, (13) C CP/MAS NMR spectroscopy combined with factor analysis (FA) can satisfactorily be used for categorizing the individual samples: FA of (13) C CP/MAS NMR spectra found clear relationships between the extent of molecular disorder and crystallization conditions. © 2013 Wiley Periodicals, Inc. and the American Pharmacists Association J Pharm Sci 102:1235-1248, 2013. Copyright © 2013 Wiley Periodicals, Inc.

  5. A novel NREM and REM parasomnia with sleep breathing disorder associated with antibodies against IgLON5: a case series, pathological features, and characterization of the antigen

    Science.gov (United States)

    Sabater, Lidia; Gaig, Carles; Gelpi, Ellen; Bataller, Luis; Lewerenz, Jan; Torres-Vega, Estefanía; Contreras, Angeles; Giometto, Bruno; Compta, Yaroslau; Embid, Cristina; Vilaseca, Isabel; Iranzo, Alex; Santamaría, Joan; Dalmau, Josep; Graus, Francesc

    2014-01-01

    Summary Background Autoimmunity may be involved in sleep and neurodegenerative disorders. We aimed to describe a neurological syndrome with prominent sleep dysfunction and antibodies to a previously unknown neuronal antigen. Methods In this observational study, clinical and video-polysomnography (V- PSG) investigations identified a novel sleep disorder in three patients referred to the Sleep Unit of Hospital Clinic University of Barcelona for abnormal sleep behaviors and obstructive sleep apnea(OSA). They had antibodies against a neuronal surface antigen also present in five additional patients referred to our laboratory for antibody studies. These five patients had been evaluated with PSG and in two, the study was done or reviewed in our Sleep Unit. Two patients underwent postmortem brain examination. Immunoprecipitation and mass spectrometry were used to characterize the antigen and to develop a diagnostic test. Serum or CSF from 285 patients with neurodegenerative, sleep, or autoimmune disorders served as controls. Findings All eight patients (five women; range: 52–76 years, median 59) had abnormal sleep movements and behaviors and OSA confirmed by PSG. Six patients had a chronic evolution (range 2–12 years, median 5.5); in four the sleep disorder was the initial and most prominent feature, and in two it was preceded by gait instability, and followed by dysarthria, dysphagia, ataxia, or chorea. Two patients had a rapid evolution with disequilibrium, dysarthria, dysphagia, and central hypoventilation, and died two and six months after symptom onset. In 5/5 patients, the V-PSG reviewed in our Unit disclosed OSA, stridor, and abnormal sleep architecture with undifferentiated NREM sleep or poorly structured stage N2 with simple movements and finalistic behaviors, normalization of NREM sleep by the end of the night, and REM sleep behavior disorder. Four/4 patients carried the HLA-DRB1*1001 and HLA-DQB1*0501 alleles. All patients had antibodies (mainly IgG4

  6. Neurocutaneous Disorders.

    Science.gov (United States)

    Rosser, Tena

    2018-02-01

    This article presents an up-to-date summary of the genetic etiology, diagnostic criteria, clinical features, and current management recommendations for the most common neurocutaneous disorders encountered in clinical adult and pediatric neurology practices. The phakomatoses are a phenotypically and genetically diverse group of multisystem disorders that primarily affect the skin and central nervous system. A greater understanding of the genetic and biological underpinnings of numerous neurocutaneous disorders has led to better clinical characterization, more refined diagnostic criteria, and improved treatments in neurofibromatosis type 1, Legius syndrome, neurofibromatosis type 2, Noonan syndrome with multiple lentigines, tuberous sclerosis complex, Sturge-Weber syndrome, and incontinentia pigmenti. Neurologists require a basic knowledge of and familiarity with a wide variety of neurocutaneous disorders because of the frequent involvement of the central and peripheral nervous systems. A simple routine skin examination can often open a broad differential diagnosis and lead to improved patient care.

  7. Autism Spectrum Disorder (ASD) and Fragile X Syndrome (FXS): Two Overlapping Disorders Reviewed through Electroencephalography—What Can be Interpreted from the Available Information?

    Science.gov (United States)

    Mc Devitt, Niamh; Gallagher, Louise; Reilly, Richard B.

    2015-01-01

    Autism Spectrum Disorder (ASD) and Fragile X syndrome (FXS) are neurodevelopmental disorders with different but potentially related neurobiological underpinnings, which exhibit significant overlap in their behavioural symptoms. FXS is a neurogenetic disorder of known cause whereas ASD is a complex genetic disorder, with both rare and common genetic risk factors and likely genetic and environmental interaction effects. A comparison of the phenotypic presentation of the two disorders may highlight those symptoms that are more likely to be under direct genetic control, for example in FXS as opposed to shared symptoms that are likely to be under the control of multiple mechanisms. This review is focused on the application and analysis of electroencephalography data (EEG) in ASD and FXS. Specifically, Event Related Potentials (ERP) and resting state studies (rEEG) studies investigating ASD and FXS cohorts are compared. This review explores the electrophysiological similarities and differences between the two disorders in addition to the potentially associated neurobiological mechanisms at play. A series of pertinent research questions which are suggested in the literature are also posed within the review. PMID:25826237

  8. Autism Spectrum Disorder (ASD and Fragile X Syndrome (FXS: Two Overlapping Disorders Reviewed through Electroencephalography—What Can be Interpreted from the Available Information?

    Directory of Open Access Journals (Sweden)

    Niamh Mc Devitt

    2015-03-01

    Full Text Available Autism Spectrum Disorder (ASD and Fragile X syndrome (FXS are neurodevelopmental disorders with different but potentially related neurobiological underpinnings, which exhibit significant overlap in their behavioural symptoms. FXS is a neurogenetic disorder of known cause whereas ASD is a complex genetic disorder, with both rare and common genetic risk factors and likely genetic and environmental interaction effects. A comparison of the phenotypic presentation of the two disorders may highlight those symptoms that are more likely to be under direct genetic control, for example in FXS as opposed to shared symptoms that are likely to be under the control of multiple mechanisms. This review is focused on the application and analysis of electroencephalography data (EEG in ASD and FXS. Specifically, Event Related Potentials (ERP and resting state studies (rEEG studies investigating ASD and FXS cohorts are compared. This review explores the electrophysiological similarities and differences between the two disorders in addition to the potentially associated neurobiological mechanisms at play. A series of pertinent research questions which are suggested in the literature are also posed within the review.

  9. Prevalence and genotypic characterization of human parvovirus B19 in children with hemato-oncological disorders in North India.

    Science.gov (United States)

    Jain, Parul; Jain, Amita; Prakash, Shantanu; Khan, Danish N; Singh, Desh D; Kumar, Archana; Moulik, Nirmalya R; Chandra, Tulika

    2015-02-01

    Human parvovirus B19 (B19V) has been associated with chronic anemia in immuno-compromised patients. In the present study, the prevalence and genotype distribution of B19V in children from North India, suffering with hemato-oncological disorders is reported. Children with aplastic anemia/leukemia/chronic hematological disorders, and healthy blood donors were enrolled in the study. Blood samples from cases and blood donors were analyzed for anti-B19V IgM and anti-B19V IgG antibodies by ELISA and for B19V-DNA by PCR. B19V-DNA positive samples were studied further for determination of viral load in samples and for B19V-DNA sequence (VP1/VP2 overlapping region) analysis. Total 238 cases (103 leukemia, 77 aplastic anemia and 58 chronic hematological disorders) and 350 blood donors were enrolled in the study. Anti-B19V IgM was positive in 16 (6.7%) cases, B19V-DNA was detected in 13 (5.5%) cases and anti-B19V IgG was positive in 127 (53.4%) cases. Total 223 (63.5%) blood donors were positive for anti-B19V IgG, however, anti-B19V IgM and B19V-DNA was not detected in any blood donor. The prevalence of anti-B19V IgG was significantly higher in children > 10 years of age. Viral load of B19V decreased with appearance of specific antibodies. Phylogenetic analysis of the VP1/VP2 overlapping region revealed that genotype 1 predominated in these patients (11/13, 84.6%), followed by genotype 3 (2/13, 15.4%). No genotype 2 was detected. All the genotype 1strains were sub-typed as 1a, except four strains, which matched neither 1a nor 1b and formed a separate cluster. Both the genotype 3 strains were sub-typed as 3b. © 2014 Wiley Periodicals, Inc.

  10. Synthesis, Characterization, and Preclinical Evaluation of New Thiazolidin-4-ones Substituted with p-Chlorophenoxy Acetic Acid and Clofibric Acid against Insulin Resistance and Metabolic Disorder

    Directory of Open Access Journals (Sweden)

    Vasantharaju S. Gowdra

    2014-01-01

    Full Text Available We synthesized twenty thiazolidin-4-one derivatives, which were then characterized by standard chromatographic and spectroscopic methods. From the in vitro glucose uptake assay, two compounds behaved as insulin sensitizers, where they enhanced glucose uptake in isolated rat diaphragm. In high-carbohydrate diet-induced insulin resistant mice, these two thiazolidin-4-ones attenuated hyperglycemia, hyperinsulinemia, hypertriglyceridemia, hypercholesterolemia, and glucose intolerance. They raised the plasma leptin but did not reverse the diabetes-induced hypoadiponectinemia. Additionally, compound 3a reduced adiposity. The test compounds were also able to reverse the disturbed liver antioxidant milieu. To conclude, these two novel thiazolidin-4-ones modulated multiple mechanisms involved in metabolic disorders, reversing insulin resistance and thus preventing the development of type-2 diabetes.

  11. Synthesis, characterization, and preclinical evaluation of new thiazolidin-4-ones substituted with p-chlorophenoxy acetic acid and clofibric acid against insulin resistance and metabolic disorder.

    Science.gov (United States)

    Gowdra, Vasantharaju S; Mudgal, Jayesh; Bansal, Punit; Nayak, Pawan G; Manohara Reddy, Seethappa A; Shenoy, Gautham G; Valiathan, Manna; Chamallamudi, Mallikarjuna R; Nampurath, Gopalan K

    2014-01-01

    We synthesized twenty thiazolidin-4-one derivatives, which were then characterized by standard chromatographic and spectroscopic methods. From the in vitro glucose uptake assay, two compounds behaved as insulin sensitizers, where they enhanced glucose uptake in isolated rat diaphragm. In high-carbohydrate diet-induced insulin resistant mice, these two thiazolidin-4-ones attenuated hyperglycemia, hyperinsulinemia, hypertriglyceridemia, hypercholesterolemia, and glucose intolerance. They raised the plasma leptin but did not reverse the diabetes-induced hypoadiponectinemia. Additionally, compound 3a reduced adiposity. The test compounds were also able to reverse the disturbed liver antioxidant milieu. To conclude, these two novel thiazolidin-4-ones modulated multiple mechanisms involved in metabolic disorders, reversing insulin resistance and thus preventing the development of type-2 diabetes.

  12. Characterization of temperature-dependent carrier transport in disordered indium-tin-oxide/poly (3,4-ethylenedioxythiophene):poly(styrenesulfonate)/polyfluorene/Ca/Al polymer structures

    International Nuclear Information System (INIS)

    Jiang, Joe-Air; Wang, Jen-Cheng; Fang, Chia-Hui; Wu, Ya-Fen; Teng, Jen-Wei; Chen, Yu-Ting; Fan, Ping-Lin; Nee, Tzer-En

    2011-01-01

    The temperature-dependent electrical characteristics of polyfluorene-based polymer structures over a temperature range from 200 to 300 K are systematically investigated in this study. Initially, using the definitions of the Berthelot-type model, it is found that the sample exhibits a higher Berthelot-type temperature T B with high driving voltage, indicating that carrier transport in a disordered system manifests Berthelot-type behaviors. The ideal current density-voltage curve for the polymer structures given the carrier transmit mechanism is further elucidated by taking into account the ohmic conduction, trap charge limited current, and Mott and Gurney model of space charge limited current. The proposed procedure is simple and can be used to characterize the material with reasonable accuracy. We also study the density of the traps H t , and the characteristic energy of the distribution E t to better understand the carrier-transport process in organic materials and structures.

  13. Disordered gambling: etiology, trajectory, and clinical considerations.

    Science.gov (United States)

    Shaffer, Howard J; Martin, Ryan

    2011-01-01

    Gambling-related research has advanced rapidly during the past 20 years. As a result of expanding interest in pathological gambling (PG), stakeholders (e.g., clinicians, regulators, and policy makers) have a better understanding of excessive gambling, including its etiology (e.g., neurobiological/neurogenetic, psychological, and sociological factors) and trajectory (e.g., initiation, course, and adaptation to gambling exposure). In this article, we examine these advances in PG-related research and then consider some of the clinical implications of these advances. We consider criteria changes for PG recently proposed by the DSM-V Impulse Control Work Group for the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition (DSM-V). We also review how clinicians can more accurately and efficiently diagnose clients seeking help for gambling-related problems by utilizing brief screens. Finally, we consider the importance of future research that can identify behavioral markers for PG. We suggest that identifying these markers will allow clinicians to make earlier diagnoses, recommend targeted treatments, and advance secondary prevention efforts. © 2011 by Annual Reviews. All rights reserved

  14. Advanced Covariance-Based Stochastic Inversion and Neuro-Genetic Optimization for Rosetta CONSERT Radar Data to Improve Spatial Resolution of Multi-Fractal Depth Profiles for Cometary Nucleus

    Science.gov (United States)

    Edenhofer, Peter; Ulamec, Stephan

    2015-04-01

    The paper is devoted to results of doctoral research work at University of Bochum as applied to the radar transmission experiment CONSERT of the ESA cometary mission Rosetta. This research aims at achieving the limits of optimum spatial (and temporal) resolution for radar remote sensing by implementation of covariance informations concerned with error-balanced control as well as coherence of wave propagation effects through random composite media involved (based on Joel Franklin's approach of extended stochastic inversion). As a consequence the well-known inherent numerical instabilities of remote sensing are significantly reduced in a robust way by increasing the weight of main diagonal elements of the resulting composite matrix to be inverted with respect to off-diagonal elements following synergy relations as to the principle of correlation receiver in wireless telecommunications. It is shown that the enhancement of resolution for remote sensing holds for an integral and differential equation approach of inversion as well. In addition to that the paper presents a discussion on how the efficiency of inversion for radar data gets achieved by an overall optimization of inversion due to a novel neuro-genetic approach. Such kind of approach is in synergy with the priority research program "Organic Computing" of DFG / German Research Organization. This Neuro-Genetic Optimization (NGO) turns out, firstly, to take into account more detailed physical informations supporting further improved resolution such as the process of accretion for cometary nucleus, wave propagation effects from rough surfaces, ground clutter, nonlinear focusing, etc. as well as, secondly, to accelerate the computing process of inversion in a really significantly enhanced and fast way, e.g., enabling online-control of autonomous processes such as detection of unknown objects, navigation, etc. The paper describes in some detail how this neuro-genetic approach of optimization is incorporated into the

  15. Caracterización de los ancianos con trastornos depresivos Characterization of older persons with depressive disorders

    Directory of Open Access Journals (Sweden)

    Reinaldo Enrique Villarreal Casate

    2010-07-01

    Full Text Available Se hizo un estudio descriptivo y transversal de 47 ancianos deprimidos, ingresados en la Sala de Psicogeriatría del Servicio de Psiquiatría del Hospital General Docente "Dr. Juan Bruno Zayas Alfonso" de Santiago de Cuba, desde marzo del 2006 hasta febrero del 2007, para identificar los trastornos depresivos que presentaban. En la casuística predominaron las mujeres (74,46 %, el grupo etario de 60 a 74 años (80,85 % y la convivencia con buena comunicación (46,80 % en los que vivían con sus familiares (56,76%. Los antecedentes personales de comportamiento suicida primaron en los senescentes sin compañía, mientras que entre los síntomas psiquiátricos diagnosticados sobresalieron: reducción del nivel de energía, alteraciones de la concentración, anorexia y sentimientos de soledad. El trastorno depresivo mayor y la enfermedad bipolar, además de haber sido los diagnósticos psiquiátricos que demandaron una mayor atención médica, tanto institucional como ambulatoria, fueron también los que se asociaron a mayor riesgo de conducta suicida en los pacientes estudiados.A descriptive and cross-sectional study was carried out in 47 depressed older persons admitted to the psychogeriatry room from the Psychiatry Unit at "Dr. Juan Bruno Zayas Alfonso" General Teaching Hospital of Santiago de Cuba, from March 2006 to February 2007, to identify their depressive disorders. Females (74,46%, age group of 60 - 74 years (80,85% and the coexistence with good communication (46,80% in those that lived with their relatives (56,76% prevailed in the case material. Past medical history of suicidal behavior prevailed in those older persons without company, while among the diagnosed psychiatric symptoms were relevant: reduced energy level, impaired concentration, anorexia and feelings of solitude. Major depression and bipolar disorder, besides having been the psychiatric diagnoses that required more outpatient and inpatient care, were also associated with a

  16. Intermittent Explosive Disorder

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    Lut Tamam

    2011-09-01

    Full Text Available Intermittent explosive disorder is an impulse control disorder characterized by the occurrence of discrete episodes of failure to resist aggressive impulses that result in violent assault or destruction of property. Though the prevalence intermittent explosive disorder has been reported to be relatively rare in frontier studies on the field, it is now common opinion that intermittent explosive disorder is far more common than previously thought especially in clinical psychiatry settings. Etiological studies displayed the role of both psychosocial factors like childhood traumas and biological factors like dysfunctional neurotransmitter systems and genetics. In differential diagnosis of the disorder, disorders involving agression as a symptom such as alcohol and drug intoxication, antisocial and borderline personality disorders, personality changes due to general medical conditions and behavioral disorder should be considered. A combination of pharmacological and psychotherapeutic approaches are suggested in the treatment of the disorder. This article briefly reviews the historical background, diagnostic criteria, epidemiology, etiology and treatment of intermittent explosive disorder.

  17. Growth and characterization of Nd-doped disordered Ca3Gd2(BO3)4 crystal

    Science.gov (United States)

    Pan, Z. B.; Zhang, H. J.; Yu, H. H.; Xu, M.; Zhang, Y. Y.; Sun, S. Q.; Wang, J. Y.; Wang, Q.; Wei, Z. Y.; Zhang, Z. G.

    2012-01-01

    A high-quality disordered Nd3+:Ca3Gd2(BO3)4 (Nd3+:CGB) laser crystal was grown by the Czochralski method. The space group and effective segregation coefficient of Nd3+ were determined to be Pnma and 1.06, respectively. The thermal properties, including the average linear thermal expansion coefficient, thermal diffusivity, specific heat, and thermal conductivity were systematically measured for the first time. It was found that the thermal conductivity increases with increasing temperature, indicating glasslike behavior. The polarized spectral properties of the crystal were investigated, including the polarized absorption spectra, polarized fluorescence spectra, and fluorescence decay. The spectroscopic parameters of Nd3+ ions in Nd3+:CGB crystal have been obtained based on Judd-Ofelt theory. The anisotropy of the spectral properties for different polarized directions was discussed. Additionally, the continuous-wave (CW) laser performance at 1.06 μm was demonstrated for the first time. The maximum output power of 603 mW was achieved with corresponding optical conversion efficiency of 8.33% and slope efficiency of 9.95%.

  18. Preparation and Characterization of a Collagen-Liposome-Chondroitin Sulfate Matrix with Potential Application for Inflammatory Disorders Treatment

    Directory of Open Access Journals (Sweden)

    Oana Craciunescu

    2014-01-01

    Full Text Available Smart drug delivery systems with controllable properties play an important role in targeted therapy and tissue regeneration. The aim of our study was the preparation and in vitro evaluation of a collagen (Col matrix embedding a liposomal formulation of chondroitin sulfate (L-CS for the treatment of inflammatory disorders. Structural studies using Oil Red O specific staining for lipids and scanning electron microscopy showed an alveolar network of nanosized Col fibrils decorated with deposits of L-CS at both periphery and inner of the matrix. The porosity and density of Col-L-CS matrix were similar to those of Col matrix, while its mean pore size and biodegradability had significantly higher and lower values (P<0.05, respectively. In vitro cytotoxicity assays showed that the matrix system induced high cell viability and stimulated cell metabolism in L929 fibroblast cell culture. Light and electron micrographs of the cell-matrix construct showed that cells clustered into the porous structure at 72 h of cultivation. In vitro diffusion test indicated that the quantity of released CS was significantly lower (P<0.05 after embedment of L-CS within Col matrix. All these results indicated that the biocompatible and biodegradable Col-L-CS matrix might be a promising delivery system for local treatment of inflamed site.

  19. Characterization of Self-Defining Memories in Individuals with Severe Alcohol Use Disorders After Mid-Term Abstinence: The Impact of the Emotional Valence of Memories.

    Science.gov (United States)

    Nandrino, Jean-Louis; Gandolphe, Marie-Charlotte

    2017-08-01

    Self-defining memories (SDM) are distinguished from other autobiographical memory (AM) processes to delineate those associated with the sense of personal identity and continuity in one's individual history. With chronic alcohol consumption, the construction of such memories may be modified in terms of specificity, valence, meaning-making, and evoked topics. This study sought to characterize SDM in a population of 27 patients with alcohol use disorder (AUD) who had been abstinent for at least 2 months compared with 28 control participants. Besides cognitive and clinical assessment, participants were told to describe verbally and date 5 SDM and their narratives were recorded. For each memory, 5 dimensions were evaluated: level of specificity, emotional valence, integration of meaning, topics, and distance of memory in time. Overall, SDM of participants with AUD were specifically characterized by (i) low specificity, (ii) low integration, (iii) a predominance of memories with negative emotional valence and a low frequency of positive memories, and (iv) a low frequency of topics related to success. When different dimensions of the SDM were crossed, their characteristics depended mainly on the valence of the memory. Negative memories were more frequent, more specific and more integrated, while positive SDM were less frequent, less specific and less integrated. The results underline the construction of a form of SDM with drinking problems that is mainly characterized by the disruption of positive memory and the presence of highly specific and integrated negative experiences. A disruption of the integration process modulated by the valence of memories could have repercussions on maintaining a sense of personal identity, the pursuit of personal goals and on social adaptability, and could constitute one of the main risks associated with persistent drinking problems. These results highlight the relevance of developing AM training programs for patients with AUD. Copyright

  20. Psychopathological, biological, and neuroimaging characterization of posttraumatic stress disorder in survivors of a severe coalmining disaster in China

    Energy Technology Data Exchange (ETDEWEB)

    Wang, H.H.; Zhang, Z.J.; Tan, Q.R.; Yin, H.; Chen, Y.C.; Wang, H.N.; Zhang, R.G.; Wang, Z.Z.; Guo, L.; Tang, L.H.; Li, L.J. [University of Hong Kong, Hong Kong (China). School of Chinese Medicine

    2010-04-15

    On July 29, 2007, a severe coalmine-flooded disaster occurred in central China and 69 miners were trapped in an about 1400 m underground coal pit. Fortunately, all of them were rescued after 75 h of the ordeal. At 3 and 6 months after the disaster, psychopathological profiles, plasma levels of cortisol and adrenocorticotropic hormone (ACTH) were evaluated in 48 survivors for posttraumatic stress disorder (PTSD) and comorbid symptoms. Magnetic resonance imaging (MRI) study was performed at 6 months. The prevalence of PTSD was 35.4% (17/48) at 3 months and 31.3% (15/48) at 6 months post-disaster, with high rates of comorbid symptoms. Risk factors for PTSD included previous traumatic experience, less than 5 years of being a miner, in an extremely exhausted or sick during the disaster, poor interpersonal relationship and poor sleep quality experienced before the disaster. Mean plasma cortisol levels at 6 months, but not at 3 months, were significantly higher in PTSD-positive subjects than the negative, and positively correlated with the severity of several comorbid symptoms. Either whole or regional brain volumes of PTSD-positive subjects were not significantly different from PTSD-negative subjects, but PTSD subjects had significantly reduced fractional anisotropy values in the right posterior cingulum and bilateral hippocampal body compared to subjects without PTSD. These results suggest that traumatic exposure in severe coalmining disasters results in considerable psychological consequences, with highly prevalent PTSD and comorbid symptoms, which are associated with previous traumatic experience, shorter-length underground services, and poor interpersonal relationships and sleep quality experienced before the disaster. Baseline cortisol level may be a useful biological predictor for different phases of the development of PTSD. The aberrant connectivity of the hippocampus and the cingulum may represent an early pathological response to trauma exposure.

  1. Characterization of the fiber connectivity profile of the cerebral cortex in schizotypal personality disorder: A pilot study

    Directory of Open Access Journals (Sweden)

    Kai eLiu

    2016-05-01

    Full Text Available Schizotypal personality disorder (SPD is considered one of the classic disconnection syndromes. However, the specific cortical disconnectivity pattern has not been fully investigated. In this study, we aimed to explore significant alterations in whole-cortex structural connectivity in SPD individuals (SPDs by combining the techniques of brain surface morphometry and white matter (WM tractography. Diffusion and structural MR data were collected from twenty subjects with SPD (all males; age, 19.7 ± 0.9 yrs and eighteen healthy controls (all males; age, 20.3 ± 1.0 yrs. To measure the structural connectivity for a given unit area of the cortex, the fiber connectivity density (FiCD value was proposed and calculated as the sum of the fractional anisotropy of all the fibers connecting to that unit area in tractography. Then, the resultant whole-cortex FiCD maps were compared in a vertex-wise manner between SPDs and controls. Compared with normal controls, SPDs showed significantly decreased FiCD in the rostral middle frontal gyrus (crossing BA9 and BA10 and significantly increased FiCD in the anterior part of the fusiform/inferior temporal cortex (P < 0.05, Monte Carlo simulation corrected. Moreover, the gray matter volume extracted from the left rostral middle frontal cluster was observed to be significantly greater in the SPD group (P = 0.02. Overall, this study identifies a decrease in connectivity in the left middle frontal cortex as a key neural deficit at the whole-cortex level in SPD, thus providing insight into its neuropathological basis.

  2. Binge Eating Disorder

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    Senol Turan

    2015-12-01

    Full Text Available Binge Eating Disorder, characterized by frequent and persistent overeating episodes that are accompanied by feeling of loss of control over eating without regular compensatory behaviors and was identified in the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition as a new eating disorder category. Binge Eating Disorder is the most common eating disorder among adults. Binge Eating Disorder is associated with significant morbidity, including medical complications related to obesity, eating disorder psychopathology, psychiatric comorbidity; reduced quality of life, and impaired social functioning. Current treatments of Binge Eating Disorder include pharmacotherapy, psychotherapy and bariatric surgery. In this review, the definition, epidemiology, etiology, clinical features, and also mainly treatment of Binge Eating Disorder are discussed.

  3. Clinical, histopathological and immunohistochemical characterization of a novel equine ocular disorder: heterochromic iridocyclitis with secondary keratitis in adult horses.

    Science.gov (United States)

    Pinto, Nelson I; McMullen, Richard J; Linder, Keith E; Cullen, John M; Gilger, Brian C

    2015-11-01

    To describe the clinical, histopathologic and immunohistochemical characteristics of an equine ocular inflammatory disease resulting in anterior uveitis and corneal endothelial inflammation associated with iris pigment dispersion and retrocorneal fibrous membrane (RFM) formation. Retrospective study. Sixteen horses with evidence of pigmented keratic precipitates (KPs), corneal edema, and/or iris depigmentation. Information collected from the medical records included signalment, clinical signs, prereferral treatment duration and response to therapy, ophthalmic examination findings, postreferral treatment, response to therapy, and outcome. Twenty-one eyes from 16 horses were affected. Age ranged between 9 and 25 years (Average 16.1 years). Blepharospasm, epiphora, and/or corneal opacification were the first clinical signs noted. At the time of referral pigmented KPs, corneal edema, iridal depigmentation, and retrocorneal membranes were commonly seen. Treatment included topical and/or systemic anti-inflammatories and antibiotics with variable response. Reduction or cessation of anti-inflammatory therapy resulted in worsening of clinical signs and disease progression. Eight eyes ultimately required enucleation. Histopathology changes include iridal pigment loss and dispersion, RFM formation, and keratitis. Variable degrees of lymphoplasmacytic inflammation were dominated by T-cells within the corneal stroma, RFM, iris, and ciliary body with occasional multinucleated giant cells. Heterochromic iridocyclitis with secondary keratitis (HIK) is characterized by uveal inflammation with pigment dispersion and suspected corneal endothelial dysfunction. Horses being treated for HIK require diligent and frequent follow-up examinations in combination with aggressive local immune suppression to control the disease. However, HIK may not respond to therapy and enucleation may ultimately be required to ensure the horse's comfort. © 2014 American College of Veterinary

  4. Anxiety Disorders

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    ... Registry Residents & Medical Students Residents Medical Students Patients & Families Mental Health Disorders/Substance Use Find a Psychiatrist Addiction and Substance Use Disorders ADHD Anxiety Disorders Autism Spectrum Disorder Bipolar Disorders Depression Eating Disorders Obsessive-Compulsive ...

  5. Mental Disorders

    Science.gov (United States)

    Mental disorders include a wide range of problems, including Anxiety disorders, including panic disorder, obsessive-compulsive disorder, ... disorders, including schizophrenia There are many causes of mental disorders. Your genes and family history may play ...

  6. Design and Characterization of a Human Monoclonal Antibody that Modulates Mutant Connexin 26 Hemichannels Implicated in Deafness and Skin Disorders

    Directory of Open Access Journals (Sweden)

    Liang Xu

    2017-09-01

    Full Text Available Background: Mutations leading to changes in properties, regulation, or expression of connexin-made channels have been implicated in 28 distinct human hereditary diseases. Eight of these result from variants of connexin 26 (Cx26, a protein critically involved in cell-cell signaling in the inner ear and skin. Lack of non-toxic drugs with defined mechanisms of action poses a serious obstacle to therapeutic interventions for diseases caused by mutant connexins. In particular, molecules that specifically modulate connexin hemichannel function without affecting gap junction channels are considered of primary importance for the study of connexin hemichannel role in physiological as well as pathological conditions. Monoclonal antibodies developed in the last three decades have become the most important class of therapeutic biologicals. Recombinant methods permit rapid selection and improvement of monoclonal antibodies from libraries with large diversity.Methods: By screening a combinatorial library of human single-chain fragment variable (scFv antibodies expressed in phage, we identified a candidate that binds an extracellular epitope of Cx26. We characterized antibody action using a variety of biochemical and biophysical assays in HeLa cells, organotypic cultures of mouse cochlea and human keratinocyte-derived cells.Results: We determined that the antibody is a remarkably efficient, non-toxic, and completely reversible inhibitor of hemichannels formed by connexin 26 and does not affect direct cell-cell communication via gap junction channels. Importantly, we also demonstrate that the antibody efficiently inhibits hyperative mutant Cx26 hemichannels implicated in autosomal dominant non-syndromic hearing impairment accompanied by keratitis and hystrix-like ichthyosis-deafness (KID/HID syndrome. We solved the crystal structure of the antibody, identified residues that are critical for binding and used molecular dynamics to uncover its mechanism of action

  7. Schizoaffective disorder

    Science.gov (United States)

    ... or do not improve with treatment Thoughts of suicide or of harming others Alternative Names Mood disorder - schizoaffective disorder; Psychosis - schizoaffective disorder Images Schizoaffective disorder ...

  8. Genetics Home Reference: CDKL5 deficiency disorder

    Science.gov (United States)

    ... Facebook Twitter Home Health Conditions CDKL5 deficiency disorder CDKL5 deficiency disorder Printable PDF Open All Close All ... Javascript to view the expand/collapse boxes. Description CDKL5 deficiency disorder is characterized by seizures that begin ...

  9. Cognitive Profile of Turner Syndrome

    Science.gov (United States)

    Hong, David; Kent, Jamie Scaletta; Kesler, Shelli

    2009-01-01

    Turner syndrome (TS) is a relatively common neurogenetic disorder characterized by complete or partial monosomy-X in a phenotypic female. TS is associated with a cognitive profile that typically includes intact intellectual function and verbal abilities with relative weaknesses in visual-spatial, executive, and social cognitive domains. In this…

  10. Musicality Correlates with Sociability and Emotionality in Williams Syndrome

    Science.gov (United States)

    Ng, Rowena; Lai, Philip; Levitin, Daniel J.; Bellugi, Ursula

    2013-01-01

    Williams syndrome (WS) is a neurogenetic developmental disorder characterized by peaks and valleys of cognitive abilities. One peak that has been understudied is the affinity that many individuals with WS have with music. It remains unknown whether their high levels of musical interest, skill, and expressivity are related to their sociable…

  11. Toddlers with Williams Syndrome Process Upright but Not Inverted Faces Holistically

    Science.gov (United States)

    Cashon, Cara H.; Ha, Oh-Ryeong; DeNicola, Christopher A.; Mervis, Carolyn B.

    2013-01-01

    Holistic processing of upright, but not inverted, faces is a marker of perceptual expertise for faces. This pattern is shown by typically developing individuals beginning at age 7 months. Williams syndrome (WS) is a rare neurogenetic developmental disorder characterized by extreme interest in faces from a very young age. Research on the effects of…

  12. Effect of Musical Experience on Verbal Memory in Williams Syndrome: Evidence from a Novel Word Learning Task

    Science.gov (United States)

    Martens, Marilee A.; Jungers, Melissa K.; Steele, Anita L.

    2011-01-01

    Williams syndrome (WS) is a neurogenetic developmental disorder characterized by an increased affinity for music, deficits in verbal memory, and atypical brain development. Music has been shown to improve verbal memory in typical individuals as well as those with learning difficulties, but no studies have examined this relationship in WS. The aim…

  13. Structural characterization and in vitro antioxidant activity of kojic dipalmitate loaded w/o/w multiple emulsions intended for skin disorders.

    Science.gov (United States)

    Gonçalez, Maíra Lima; Marcussi, Diana Gleide; Calixto, Giovana Maria Fioramonti; Corrêa, Marcos Antonio; Chorilli, Marlus

    2015-01-01

    Multiple emulsions (MEs) are intensively being studied for drug delivery due to their ability to load and increase the bioavailability of active lipophilic antioxidant, such as kojic dipalmitate (KDP). The aim of this study was to structurally characterize developed MEs by determining the average droplet size (Dnm) and zeta potential (ZP), performing macroscopic and microscopic analysis and analyzing their rheological behavior and in vitro bioadhesion. Furthermore, the in vitro safety profile and antioxidant activity of KDP-loaded MEs were evaluated. The developed MEs showed a Dnm of approximately 1 micrometer and a ZP of -13 mV, and no change was observed in Dnm or ZP of the system with the addition of KDP. KDP-unloaded MEs exhibited ''shear thinning" flow behavior whereas KDP-loaded MEs exhibited Newtonian behavior, which are both characteristic of antithixotropic materials. MEs have bioadhesion properties that were not influenced by the incorporation of KDP. The results showed that the incorporation of KDP into MEs improved the safety profile of the drug. The in vitro antioxidant activity assay suggested that MEs presented a higher capacity for maintaining the antioxidant activity of KDP. ME-based systems may be a promising platform for the topical application of KDP in the treatment of skin disorders.

  14. Structural Characterization and In Vitro Antioxidant Activity of Kojic Dipalmitate Loaded W/O/W Multiple Emulsions Intended for Skin Disorders

    Directory of Open Access Journals (Sweden)

    Maíra Lima Gonçalez

    2015-01-01

    Full Text Available Multiple emulsions (MEs are intensively being studied for drug delivery due to their ability to load and increase the bioavailability of active lipophilic antioxidant, such as kojic dipalmitate (KDP. The aim of this study was to structurally characterize developed MEs by determining the average droplet size (Dnm and zeta potential (ZP, performing macroscopic and microscopic analysis and analyzing their rheological behavior and in vitro bioadhesion. Furthermore, the in vitro safety profile and antioxidant activity of KDP-loaded MEs were evaluated. The developed MEs showed a Dnm of approximately 1 micrometer and a ZP of −13 mV, and no change was observed in Dnm or ZP of the system with the addition of KDP. KDP-unloaded MEs exhibited ‘‘shear thinning’’ flow behavior whereas KDP-loaded MEs exhibited Newtonian behavior, which are both characteristic of antithixotropic materials. MEs have bioadhesion properties that were not influenced by the incorporation of KDP. The results showed that the incorporation of KDP into MEs improved the safety profile of the drug. The in vitro antioxidant activity assay suggested that MEs presented a higher capacity for maintaining the antioxidant activity of KDP. ME-based systems may be a promising platform for the topical application of KDP in the treatment of skin disorders.

  15. Comparative analysis of autistic traits and behavioral disorders in Prader-Willi syndrome and Asperger disorder.

    Science.gov (United States)

    Song, Dae Kwang; Sawada, Masayuki; Yokota, Shingo; Kuroda, Kenji; Uenishi, Hiroyuki; Kanazawa, Tetsufumi; Ogata, Hiroyuki; Ihara, Hiroshi; Nagai, Toshiro; Shimoda, Kazutaka

    2015-01-01

    Prader-Willi syndrome (PWS) is a neuro-genetic disorder caused by the absence/loss of expression of one or more paternally expressed genes on chromosome 15 (q11-13). In this study, a comparative analysis of intelligence level and autistic traits was conducted between children with PWS (n = 30; 18 males, 12 females; age = 10.6 ± 2.8 years) and those with Asperger disorder (AD; n = 31; 24 males, 7 females; age = 10.5 ± 3.1 years). The children were compared by age group: lower elementary school age (6-8 years), upper elementary school age (9-12 years), and middle school age (13-15 years). As results, the intelligence levels of children with PWS were significantly lower than those with AD across all age groups. Autistic traits, assessed using the Pervasive Developmental Disorders Autism Society Japan Rating Scale (PARS), revealed that among elementary school age children, those with PWS had less prominent autistic traits than those with AD, however, among middle school age children, those with PWS and AD showed similar prominence. An analysis of the PARS subscale scores by age group showed that while the profiles of autistic traits for children with PWS differed from those of children with AD at elementary school age, the profiles showed no significant differences between the groups at middle school age. The findings suggest that autistic traits in PWS become gradually more prominent with increasing of age and that these autistic traits differ in their fundamental nature from those observed in AD. © 2014 Wiley Periodicals, Inc.

  16. Neuro-Genetics of Reward Deficiency Syndrome (RDS) as the Root Cause of “Addiction Transfer”: A New Phenomenon Common after Bariatric Surgery

    Science.gov (United States)

    Blum, Kenneth; Bailey, John; Gonzalez, Anthony M; Oscar-Berman, Marlene; Liu, Yijun; Giordano, John; Braverman, Eric; Gold, Mark

    2012-01-01

    Now after many years of successful bariatric (weight-loss) surgeries directed at the obesity epidemic clinicians are reporting that some patients are replacing compulsive overeating with newly acquired compulsive disorders such as alcoholism, gambling, drugs, and other addictions like compulsive shopping and exercise. This review article explores evidence from psychiatric genetic animal and human studies that link compulsive overeating and other compulsive disorders to explain the phenomenon of addiction transfer. Possibly due to neurochemical similarities, overeating and obesity may act as protective factors reducing drug reward and addictive behaviors. In animal models of addiction withdrawal from sugar induces imbalances in the neurotransmitters, acetylcholine and dopamine, similar to opiate withdrawal. Many human neuroimaging studies have supported the concept of linking food craving to drug craving behavior. Previously our laboratory coined the term Reward Deficiency Syndrome (RDS) for common genetic determinants in predicting addictive disorders and reported that the predictive value for future RDS behaviors in subjects carrying the DRD2 Taq A1 allele was 74%. While poly genes play a role in RDS, we have also inferred that disruptions in dopamine function may predispose certain individuals to addictive behaviors and obesity. It is now known that family history of alcoholism is a significant obesity risk factor. Therefore, we hypothesize here that RDS is the root cause of substituting food addiction for other dependencies and potentially explains this recently described Phenomenon (addiction transfer) common after bariatric surgery. PMID:23483116

  17. A Case with Probable Herpes Simplex Encephalitis Characterized by Specific Emotional and Behavioral Disorders and Gogi (Word-Meaning Aphasia-Like Syndrome with Neologism and Neologistic Kanji Processing

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    I. Jibiki

    1992-01-01

    Full Text Available A right-handed male patient with probable herpes simplex encephalitis is presented because of the rarity of the clinicial picture. Brain X-ray CT scans showed lesions located in the bilateral fronto-temporal regions primarily involving the left lower temporal lobe. The clinical picture following the acute phase of the disease was characterized by specific emotional and behavioral disorders, i.e. oral tendency, hyperactivity, thoughtless talkativeness, random speech and exhilaration, which were partly compatible with the Klüver-Bucy syndrome. Furthermore, this case was characterized by Gogi (word-meaning aphasia-like transcortical sensory aphasia and neologism produced saliently when naming objects and peculiar neologistic kanji processing in writing to dictation and oral reading. Both the neologism and neologistic kanji processing varied in quantity in parallel with the specific emotional and behavioral disorders. The relationships of these clinical features to lesional sites demonstrated by X-ray CT are discussed.

  18. Characterization of Binge-Eating Behavior in Individuals With Binge-Eating Disorder in an Adult Population in the United States.

    Science.gov (United States)

    Pawaskar, Manjiri; Solo, Kirk; Valant, Jason; Schmitt, Emily; Nwankwo, Millicent; Herman, Barry K

    2016-10-27

    Characterize the frequency, duration, and severity of binge-eating behaviors in adults meeting DSM-5 criteria for binge-eating disorder (BED) in a large US community sample. A representative sample of US adults from the National Health and Wellness Survey was recruited from an online panel and asked to respond to an Internet survey (conducted in October 2013) that included questions designed to assess binge-eating behaviors in relation to DSM-5 BED diagnostic criteria. Of 22,397 respondents, 344 self-reported meeting DSM-5 BED criteria (BED respondents). Most BED respondents reported that binge-eating episodes had occurred for the past 7-12 months (61.0%), and 93.6% reported ≥ 2-3 binge-eating episodes/wk. All BED respondents reported that "extreme" (52.6%) or "great" (47.4%) distress levels were associated with binge-eating episodes. Among BED respondents who agreed to provide detailed binge-eating behavior data after being invited to respond to additional survey questions, 40.6% reported binge eating on average > 1 time/d, and 59.2% reported binge eating 2-3 times/d. For 44.5% of BED respondents, binge-eating duration was 31-60 minutes. BED respondents reported that they "very often" (36.6%) or "often" (34.0%) had urges to binge eat between 7-10 pm. "Feeling disgusted with oneself, depressed, or guilty afterward" was the most bothersome symptom of binge eating for BED respondents (extremely bothersome: 41.9%). Binge-eating frequency among BED respondents averaged once daily. Most BED respondents exhibited binge-eating behavior for 7-12 months, often with severe symptoms. These findings highlight the disease burden of BED and have potential implications for diagnosing and treating BED. © Copyright 2016 Physicians Postgraduate Press, Inc.

  19. Hatching the behavioral addiction egg: Reward Deficiency Solution System (RDSS)™ as a function of dopaminergic neurogenetics and brain functional connectivity linking all addictions under a common rubric.

    Science.gov (United States)

    Blum, Kenneth; Febo, Marcelo; McLaughlin, Thomas; Cronjé, Frans J; Han, David; Gold, S Mark

    2014-09-01

    Following the first association between the dopamine D2 receptor gene polymorphism and severe alcoholism, there has been an explosion of research reports in the psychiatric and behavioral addiction literature and neurogenetics. With this increased knowledge, the field has been rife with controversy. Moreover, with the advent of Whole Genome-Wide Studies (GWAS) and Whole Exome Sequencing (WES), along with Functional Genome Convergence, the multiple-candidate gene approach still has merit and is considered by many as the most prudent approach. However, it is the combination of these two approaches that will ultimately define real, genetic allelic relationships, in terms of both risk and etiology. Since 1996, our laboratory has coined the umbrella term Reward Deficiency Syndrome (RDS) to explain the common neurochemical and genetic mechanisms involved with both substance and non-substance, addictive behaviors. This is a selective review of peer-reviewed papers primary listed in Pubmed and Medline. A review of the available evidence indicates the importance of dopaminergic pathways and resting-state, functional connectivity of brain reward circuits. Importantly, the proposal is that the real phenotype is RDS and impairments in the brain's reward cascade, either genetically or environmentally (epigenetically) induced, influence both substance and non-substance, addictive behaviors. Understanding shared common mechanisms will ultimately lead to better diagnosis, treatment and prevention of relapse. While, at this juncture, we cannot as yet state that we have "hatched the behavioral addiction egg", we are beginning to ask the correct questions and through an intense global effort will hopefully find a way of "redeeming joy" and permitting homo sapiens live a life, free of addiction and pain.

  20. State-Dependent Differences in Emotion Regulation Between Unmedicated Bipolar Disorder and Major Depressive Disorder

    NARCIS (Netherlands)

    Rive, M.M.; Mocking, R.J.T.; Koeter, M.W.; Wingen, G. van; Wit, S.J. de; Heuvel, O.A. van den; Veltman, D.J.; Ruhe, H.G.; Schene, A.H.

    2015-01-01

    IMPORTANCE: Major depressive disorder (MDD) and bipolar disorder (BD) are difficult to distinguish clinically during the depressed or remitted states. Both mood disorders are characterized by emotion regulation disturbances; however, little is known about emotion regulation differences between MDD

  1. State-Dependent Differences in Emotion Regulation Between Unmedicated Bipolar Disorder and Major Depressive Disorder

    NARCIS (Netherlands)

    Rive, Maria M.; Mocking, Roel J. T.; Koeter, Maarten W. J.; van Wingen, Guido; de Wit, Stella J.; van den Heuvel, Odile A.; Veltman, Dick J.; Ruhe, Henricus G.; Schene, Aart H.

    IMPORTANCE Major depressive disorder (MDD) and bipolar disorder (BD) are difficult to distinguish clinically during the depressed or remitted states. Both mood disorders are characterized by emotion regulation disturbances; however, little is known about emotion regulation differences between MDD

  2. State-Dependent Differences in Emotion Regulation Between Unmedicated Bipolar Disorder and Major Depressive Disorder

    NARCIS (Netherlands)

    Rive, M.M.; Mocking, R.J.T.; Koeter, M.W.J.; van Wingen, G.; de Wit, S.J.; van den Heuvel, O.A.; Veltman, D.J.; Ruhe, H.G.; Schene, A.H.

    2015-01-01

    IMPORTANCE Major depressive disorder (MDD) and bipolar disorder (BD) are difficult to distinguish clinically during the depressed or remitted states. Both mood disorders are characterized by emotion regulation disturbances; however, little is known about emotion regulation differences between MDD

  3. Psychomotor development in infants with Prader-Willi syndrome and associations with sleep-related breathing disorders.

    Science.gov (United States)

    Festen, Dederieke A M; Wevers, Maaike; de Weerd, Al W; van den Bossche, Renilde A S; Duivenvoorden, Hugo J; Otten, Barto J; Wit, Jan Maarten; Hokken-Koelega, Anita C S

    2007-08-01

    Prader-Willi syndrome (PWS) is a neurogenetic disorder with hypotonia, psychomotor delay, obesity, short stature, and sleep-related breathing disorders. The aim of this study was to evaluate the association between psychomotor development and sleep-related breathing disorders in PWS infants. Bayley Scales of Infant Development were performed in 22 PWS infants, with a median (interquartile range, IQR) age of 1.8 (1.1-3.4) y, and a body mass index SD score (BMISDS) of -0.5 (-1.3 to 1.6). We evaluated psychomotor development in relation to results of polysomnography. Median (IQR) mental and motor development was 73.1% (64.3-79.6%) and 55.2% (46.5-63.1%) of normal children, respectively. All infants had sleep-related breathing disorders, mostly of central origin. The apnea hypopnea index was not associated with psychomotor development. Only four infants had obstructive sleep apnea syndrome (OSAS). They had a significantly delayed mental development of 65.5% (60.0-70.3%) of normal. They had a median BMISDS of 1.4 (0.1-1.6), which tended to be higher than in those without OSAS. Our data indicate that psychomotor development in PWS infants is not related to central sleep-related breathing disorders, but infants with OSAS have more severely delayed mental development, suggesting that PWS infants should be screened for OSAS.

  4. What characterizes substance abusers who commit suicide attempts? Factors related to Axis I disorders and patterns of substance use disorders. A study of treatment-seeking substance abusers in Norway.

    Science.gov (United States)

    Landheim, A S; Bakken, K; Vaglum, P

    2006-01-01

    The frequency of suicide attempts and clinical characteristics of attempters among poly-substance abusers and alcoholics were examined. A consecutive sample (n = 260) of in- and outpatients from two Norwegian counties were assessed by Composite International Diagnostic Interview (Axis I disorders), Millon's Clinical Multiaxial Inventory (Axis II disorders) and the Norwegian National Client Assessment Form. When analysing the association between suicide attempters and the range of predictor variables, logistic regression analysis was conducted. Almost half (47%) of the sample reported lifetime suicide attempts; significantly more frequently in poly-substance abusers (58%) than alcoholics (38%). A substance use disorder with duration of >or=15 years and an early onset (suicide attempter after controlling for Axis I disorders. In addition, eating disorders, agoraphobia and major depression were strongly and independently associated with being a suicide attempter. Attempts at preventing suicidal behaviour should not ignore the suicide risk among poly-substance abusers. In addition, prevention of suicidal behaviour demands a treatment programme focusing concomitantly on both addictive behaviour and comorbid psychiatric disorders. Copyright 2006 S. Karger AG, Basel.

  5. Immunological characterization and transcription profiling of peripheral blood (PB monocytes in children with autism spectrum disorders (ASD and specific polysaccharide antibody deficiency (SPAD: case study

    Directory of Open Access Journals (Sweden)

    Jyonouchi Harumi

    2012-01-01

    Full Text Available Abstract Introduction There exists a small subset of children with autism spectrum disorders (ASD characterized by fluctuating behavioral symptoms and cognitive skills following immune insults. Some of these children also exhibit specific polysaccharide antibody deficiency (SPAD, resulting in frequent infection caused by encapsulated organisms, and they often require supplemental intravenous immunoglobulin (IVIG (ASD/SPAD. This study assessed whether these ASD/SPAD children have distinct immunological findings in comparison with ASD/non-SPAD or non-ASD/SPAD children. Case description We describe 8 ASD/SPAD children with worsening behavioral symptoms/cognitive skills that are triggered by immune insults. These ASD/SPAD children exhibited delayed type food allergy (5/8, treatment-resistant seizure disorders (4/8, and chronic gastrointestinal (GI symptoms (5/8 at high frequencies. Control subjects included ASD children without SPAD (N = 39, normal controls (N = 37, and non-ASD children with SPAD (N = 12. Discussion and Evaluation We assessed their innate and adaptive immune responses, by measuring the production of pro-inflammatory and counter-regulatory cytokines by peripheral blood mononuclear cells (PBMCs in responses to agonists of toll like receptors (TLR, stimuli of innate immunity, and T cell stimulants. Transcription profiling of PB monocytes was also assessed. ASD/SPAD PBMCs produced less proinflammatory cytokines with agonists of TLR7/8 (IL-6, IL-23, TLR2/6 (IL-6, TLR4 (IL-12p40, and without stimuli (IL-1ß, IL-6, and TNF-α than normal controls. In addition, cytokine production of ASD/SPAD PBMCs in response to T cell mitogens (IFN-γ, IL-17, and IL-12p40 and candida antigen (Ag (IL-10, IL-12p40 were less than normal controls. ASD/non-SPAD PBMDs revealed similar results as normal controls, while non-ASD/SPAD PBMCs revealed lower production of IL-6, IL-10 and IL-23 with a TLR4 agonist. Only common features observed between ASD/SPAD and non

  6. Caracterização do zumbido em idosos e de possíveis transtornos relacionados Characterization of tinnitus in the elderly and its possible related disorders

    Directory of Open Access Journals (Sweden)

    Lidiane Maria de Brito Macedo Ferreira

    2009-04-01

    Full Text Available O envelhecimento populacional é uma realidade atual no Brasil, e com ele observa-se o aumento de doenças crônicodegenerativas. O zumbido surge como um sintoma muito prevalente e de alto impacto na qualidade de vida do paciente senil. OBJETIVO: Avaliar e qualificar o zumbido neste grupo. MATERIAL E MÉTODO: Questionário de pesquisa aplicado a 100 idosos em hospital terciário, aleatoriamente, com questões sobre características do zumbido; repercussão do zumbido na vida do paciente e antecedentes pessoais. RESULTADOS: 61% dos participantes eram do sexo feminino, a média de idade foi de 69,53 anos. Em relação às características do zumbido: não-pulsátil 76%, contínuo 54%, bilateral 57%, recente 62% e único 83%; à repercussão: 32,5% referiram alteração no emocional, 31,8% no sono, 22,5% na concentração e 13,2% na vida social; 39% classificaram o zumbido em moderado, 35% em intenso e 26% em leve; às comorbidades: relação com sintomas otoneurológicos e hipertensão arterial; aos achados audiométricos: curvas descendentes, sensorioneurais e simétricas foram prevalentes. CONCLUSÕES: O zumbido interfere na vida do idoso; não há correlação entre o grau da perda auditiva e o grau de insatisfação do paciente com o zumbido; e a presbiacusia foi o achado mais comum encontrado nas audiometrias.Population aging it is a current reality in Brazil and tinnitus appears as a very prevalent symptom, having a high impact on the quality of life of elderly patients. AIM: to evaluate and to characterize tinnitus in this group. MATERIALS AND METHODS: A research questionnaire randomly given to 100 elderly patients in a tertiary hospital, asking about tinnitus characteristics, its impact on the life of the patient, and personal medical history. RESULTS: 61% of the participants were female, average age average was 69.53 years. The results associated with tinnitus features were: no-pulsatile 76%, continuous 54%, bilateral 57%, recent 62% and

  7. Testing Brain Overgrowth and Synaptic Models of Autism Using NPCs and Neurons from Patient-Derived IPS Cells

    Science.gov (United States)

    2015-12-01

    neurodevelopmental diseases that affect about 1% of children in the United States. Such disorders are characterized by deficits in verbal communication...18 4 1. INTRODUCTION: Autism and autism spectrum disorders (ASD) are complex neurodevelopmental diseases that affect about 1% of children in the...cellular model of complex human neurogenetic diseases (Marchetto et al. 2011). Now, iPSCs have been generated for several neurological disorders and

  8. Thermal characterization, crystal field analysis and in-band pumped laser performance of Er doped NaY(WO(4(2 disordered laser crystals.

    Directory of Open Access Journals (Sweden)

    María Dolores Serrano

    Full Text Available Undoped and Er-doped NaY(WO42 disordered single crystals have been grown by the Czochralski technique. The specific heat and thermal conductivity (κ of these crystals have been characterized from T = 4 K to 700 K and 360 K, respectively. It is shown that κ exhibits anisotropy characteristic of single crystals as well as a κ(T behavior observed in glasses, with a saturation mean free phonon path of 3.6 Å and 4.5 Å for propagation along a and c crystal axes, respectively. The relative energy positions and irreducible representations of Stark Er(3+ levels up to (4G(7/2 multiplet have been determined by the combination of experimental low (<10 K temperature optical absorption and photoluminescence measurements and simulations with a single-electron Hamiltonian including both free-ion and crystal field interactions. Absorption, emission and gain cross sections of the (4I(13/2↔(4I(15/2 laser related transition have been determined at 77 K. The (4I(13/2 Er(3+ lifetime (τ was measured in the temperature range of 77-300 K, and was found to change from τ (77K ≈ 4.5 ms to τ (300K ≈ 3.5 ms. Laser operation is demonstrated at 77 K and 300 K by resonantly pumping the (4I(13/2 multiplet at λ≈1500 nm with a broadband (FWHM≈20 nm diode laser source perfectly matching the 77 K crystal (4I(15/2 → (4I(13/2 absorption profile. At 77 K as much as 5.5 W of output power were obtained in π-polarized configuration with a slope efficiency versus absorbed pump power of 57%, the free running laser wavelength in air was λ≈1611 nm with the laser output bandwidth of 3.5 nm. The laser emission was tunable over 30.7 nm, from 1590.7 nm to 1621.4 nm, for the same π-polarized configuration.

  9. Addictive Disorders in Adolescents.

    Science.gov (United States)

    Truong, Anh; Moukaddam, Nidal; Toledo, Alexander; Onigu-Otite, Edore

    2017-09-01

    Addictive disorders in youth represent a dynamic field characterized by shifting patterns of substance use and high rates of experimentation, while retaining the risky behaviors and negative outcomes associated with established drug classes. Youth/adolescents are also at the forefront of use of new technologies, and non-substance-related disorders are pertinent. These disorders present with similar pictures of impairment, and can be diagnosed following the same principles. An underlying mental disorder and the possibility of a dual diagnosis need to be assessed carefully, and optimal treatment includes psychosocial treatments with applicable pharmacologic management, the latter representing an expanding field. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Attention-deficit hyperactivity disorder in bipolar disorder

    OpenAIRE

    Rydén, Eleonore

    2010-01-01

    Attention-deficit hyperactivity disorder (ADHD) is a developmental disorder, i.e., it is by definition present from childhood. The main features characterizing ADHD are the difficulties to regulate attention, activity level, and impulses. The hallmark of bipolar disorder is episodic mood alterations with restitution between episodes. Although debut in childhood may occur, bipolar disorder typically debuts in late adolescence or early adulthood. The overarching aim with this ...

  11. [Gambling disorder in Japan].

    Science.gov (United States)

    Tanabe, Hitoshi

    2015-09-01

    Gambling disorder is a psychiatric disorder characterized by persistent and recurrent problematic gambling behavior, associated with impaired functioning, reduced quality of life, and frequent divorce and bankruptcy. Gambling disorder is reclassified in the category Substance-Related and Addictive Disorders in the DSM-5 because its clinical features closely resemble those of substance use disorders, and gambling activates the reward system in brain in much the same way drugs do. Prevalence of gambling disorder in Japan is high rate because of slot machines and pachinko game are very popular in Japan. The author recommend group psychotherapy and self-help group (Gamblers Anonymous), because group dynamics make them accept their wrongdoings related to gambling and believe that they can enjoy their lives without gambling.

  12. [Obsessive-compulsive disorder. A hidden disorder].

    Science.gov (United States)

    Haraldsson, Magnús

    2015-02-01

    Obsessive-compulsive disorder is a common and often chronic psychiatric illness that significantly interferes with the patient´s functioning and quality of life. The disorder is characterized by excessive intrusive and inappropriate anxiety evoking thoughts as well as time consuming compulsions that cause significant impairment and distress. The symptoms are often accompanied by shame and guilt and the knowledge of the general public and professional community about the disorder is limited. Hence it is frequently misdiagnosed or diagnosed late. There are indications that the disorder is hereditary and that neurobiological processes are involved in its pathophysiology. Several psychological theories about the causes of obsessive-compulsive disorder are supported by empirical evidence. Evidence based treatment is either with serotoninergic medications or cognitive behavioral therapy, particularly a form of behavioral therapy called exposure response prevention. Better treatment options are needed because almost a third of people with obsessive-compulsive disorder respond inadequatly to treatment. In this review article two cases of obsessive-compulsive disorder are presented. The former case is a young man with typical symptoms that respond well to treatment and the latter is a middle aged lady with severe treatment resistant symptoms. She underwent stereotactic implantation of electrodes and received deep brain stimulation, which is an experimental treatment for severe obsessive-compulsive disorder that does not respond to any conventional treatment. Landspitali University Hospital, Division of Psychiatry. Faculty of Medicine, University of Iceland.

  13. Clinical characterization of [sexual function disorders obseved for men suffering of vegeto-vascular dystonia who participated in liquidating the consequences of ChNPP accident

    International Nuclear Information System (INIS)

    Gorbov, V.G.

    1992-01-01

    152 men (age ranging from 25 to 55) suffering of vegeto-vascular dystonia have been examined from the point of view of structure and clinical features of the sexual pathology as well as the role of autonomic nervous system in pathologenesis of sexual abnormalities. For all the patients sexual disorders manifested to diferent degrees have been disclosed. Risc factors of occurring sexual disorders; inflammation of epididymis sexual glands and gonads have been estimated. The influence of shift method of work and conjugal dysharmony on the risc factors has been studied. Chromic prostatitis is the most frequently occurring risc factor (45%). No direct correlation dependence of the sexual disorder gravity on the total radiation dose to which the patients were exposed has been observed. 11 refs.; 1 tab

  14. Characterizing Intonation Deficit in Motor Speech Disorders: An Autosegmental-Metrical Analysis of Spontaneous Speech in Hypokinetic Dysarthria, Ataxic Dysarthria, and Foreign Accent Syndrome

    Science.gov (United States)

    Lowit, Anja; Kuschmann, Anja

    2012-01-01

    Purpose: The autosegmental-metrical (AM) framework represents an established methodology for intonational analysis in unimpaired speaker populations but has found little application in describing intonation in motor speech disorders (MSDs). This study compared the intonation patterns of unimpaired participants (CON) and those with Parkinson's…

  15. [Hereditary factors in attention deficit hyperactivity disorder

    NARCIS (Netherlands)

    Fliers, E.A.; Franke, B.

    2005-01-01

    Attention deficit hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by concentration problems, hyperactivity and impulsivity. Disturbances in dopamine and/or noradrenalin neurotransmission are probably the underlying pathophysiological mechanisms of ADHD. Around 80% of

  16. CARDIOVASCULAR DISORDERS AMONG PERSONS WITH DOWN SYNDROME

    NARCIS (Netherlands)

    Vis, Jeroen C.; van Engelen, Klaartje; Bouma, Berto J.; Bilardo, Catia M.; Blom, Nico A.; Mulder, Barbara J. M.

    2010-01-01

    Down syndrome is the most common chromosomal abnormality among liveborn infants and is the most frequent chromosomal cause of intellectual disability (Frid, Drott, Lundell, Rasmussen, & Anneren, 1999). It is a multisystem disorder, characterized by various congenital defects, organic disorders,

  17. Schizoid personality disorder

    Directory of Open Access Journals (Sweden)

    Gerhard Dammann

    2017-11-01

    Full Text Available The schizoid personality disorder is characterized by a lack of interest in close relationships, both in the family and in other interpersonal relationships, including intimate/sexual interactions, a superiority of introverted activities, emotional coldness, estrangement and flattened affect (DSM-5. This video lecture is devoted to the review of the prevalence, diagnosis, and treatment of this disorder. In addition, the lecture examines clinical cases and an example of managing such patients.

  18. Eating Disorders

    Science.gov (United States)

    ... of-control eating Women are more likely than men to have eating disorders. They usually start in the teenage years and often occur along with depression, anxiety disorders, and substance abuse. Eating disorders can ...

  19. Eating Disorders

    Science.gov (United States)

    ... Application Process Managing Grants Clinical Research Training Small Business Research Labs at NIMH Labs at NIMH Home Research ... About Eating Disorders More Publications About Eating Disorders Research Results PubMed: Journal Articles about Eating Disorders Contact Us The National ...

  20. Personality Disorders

    Science.gov (United States)

    ... Disorders in Adults Data Sources Share Personality Disorders Definitions Personality disorders represent “an enduring pattern of inner ... MSC 9663 Bethesda, MD 20892-9663 Follow Us Facebook Twitter YouTube Google Plus NIMH Newsletter NIMH RSS ...

  1. Schizoaffective Disorder

    Science.gov (United States)

    ... variations in brain chemistry and structure. Risk factors Factors that increase the risk of developing schizoaffective disorder include: Having a close blood relative who has schizoaffective disorder, schizophrenia or bipolar disorder Stressful events that trigger symptoms ...

  2. Conduct disorders.

    Science.gov (United States)

    Buitelaar, Jan K; Smeets, Kirsten C; Herpers, Pierre; Scheepers, Floor; Glennon, Jeffrey; Rommelse, Nanda N J

    2013-02-01

    Conduct disorder (CD) is a frequently occurring psychiatric disorder characterized by a persistent pattern of aggressive and non-aggressive rule breaking antisocial behaviours that lead to considerable burden for the patients themselves, their family and society. This review paper updates diagnostic and therapeutic approaches to CD in the light of the forthcoming DSM-5 definition. The diagnostic criteria for CD will remain unchanged in DSM-5, but the introduction of a specifier of CD with a callous-unemotional (CU) presentation is new. Linked to this, we discuss the pros and cons of various other ways to subtype aggression/CD symptoms. Existing guidelines for CD are, with few exceptions, already of a relatively older date and emphasize that clinical assessment should be systematic and comprehensive and based on a multi-informant approach. Non-medical psychosocial interventions are recommended as the first option for the treatment of CD. There is a role for medication in the treatment of comorbid syndromes and/or in case of insufficient response to psychosocial interventions and severe and dangerous aggressive and violent behaviours.

  3. Whole-exome sequencing supports genetic heterogeneity in childhood apraxia of speech

    OpenAIRE

    Worthey, Elizabeth A; Raca, Gordana; Laffin, Jennifer J; Wilk, Brandon M; Harris, Jeremy M; Jakielski, Kathy J; Dimmock, David P; Strand, Edythe A; Shriberg, Lawrence D

    2013-01-01

    Background Childhood apraxia of speech (CAS) is a rare, severe, persistent pediatric motor speech disorder with associated deficits in sensorimotor, cognitive, language, learning and affective processes. Among other neurogenetic origins, CAS is the disorder segregating with a mutation in FOXP2 in a widely studied, multigenerational London family. We report the first whole-exome sequencing (WES) findings from a cohort of 10 unrelated participants, ages 3 to 19 years, with well-characterized CA...

  4. Somatic symptom disorder

    Science.gov (United States)

    ... related disorders; Somatization disorder; Somatiform disorders; Briquet syndrome; Illness anxiety disorder References American Psychiatric Association. Somatic symptom disorder. Diagnostic and Statistical Manual of Mental Disorders . ...

  5. Brain function in carriers of a genome-wide supported bipolar disorder variant.

    Science.gov (United States)

    Erk, Susanne; Meyer-Lindenberg, Andreas; Schnell, Knut; Opitz von Boberfeld, Carola; Esslinger, Christine; Kirsch, Peter; Grimm, Oliver; Arnold, Claudia; Haddad, Leila; Witt, Stephanie H; Cichon, Sven; Nöthen, Markus M; Rietschel, Marcella; Walter, Henrik

    2010-08-01

    The neural abnormalities underlying genetic risk for bipolar disorder, a severe, common, and highly heritable psychiatric condition, are largely unknown. An opportunity to define these mechanisms is provided by the recent discovery, through genome-wide association, of a single-nucleotide polymorphism (rs1006737) strongly associated with bipolar disorder within the CACNA1C gene, encoding the alpha subunit of the L-type voltage-dependent calcium channel Ca(v)1.2. To determine whether the genetic risk associated with rs1006737 is mediated through hippocampal function. Functional magnetic resonance imaging study. University hospital. A total of 110 healthy volunteers of both sexes and of German descent in the Hardy-Weinberg equilibrium for rs1006737. Blood oxygen level-dependent signal during an episodic memory task and behavioral and psychopathological measures. Using an intermediate phenotype approach, we show that healthy carriers of the CACNA1C risk variant exhibit a pronounced reduction of bilateral hippocampal activation during episodic memory recall and diminished functional coupling between left and right hippocampal regions. Furthermore, risk allele carriers exhibit activation deficits of the subgenual anterior cingulate cortex, a region repeatedly associated with affective disorders and the mediation of adaptive stress-related responses. The relevance of these findings for affective disorders is supported by significantly higher psychopathology scores for depression, anxiety, obsessive-compulsive thoughts, interpersonal sensitivity, and neuroticism in risk allele carriers, correlating negatively with the observed regional brain activation. Our data demonstrate that rs1006737 or genetic variants in linkage disequilibrium with it are functional in the human brain and provide a neurogenetic risk mechanism for bipolar disorder backed by genome-wide evidence.

  6. Analysis and functional characterization of sequence variations in ligand binding domain of thyroid hormone receptors in autism spectrum disorder (ASD) patients.

    Science.gov (United States)

    Kalikiri, Mahesh Kumar; Mamidala, Madhu Poornima; Rao, Ananth N; Rajesh, Vidya

    2017-12-01

    Autism spectrum disorder (ASD) is a neuro developmental disorder, reported to be on a rise in the past two decades. Thyroid hormone-T3 plays an important role in early embryonic and central nervous system development. T3 mediates its function by binding to thyroid hormone receptors, TRα and TRβ. Alterations in T3 levels and thyroid receptor mutations have been earlier implicated in neuropsychiatric disorders and have been linked to environmental toxins. Limited reports from earlier studies have shown the effectiveness of T3 treatment with promising results in children with ASD and that the thyroid hormone levels in these children was also normal. This necessitates the need to explore the genetic variations in the components of the thyroid hormone pathway in ASD children. To achieve this objective, we performed genetic analysis of ligand binding domain of THRA and THRB receptor genes in 30 ASD subjects and in age matched controls from India. Our study for the first time reports novel single nucleotide polymorphisms in the THRA and THRB receptor genes of ASD individuals. Autism Res 2017, 10: 1919-1928. ©2017 International Society for Autism Research, Wiley Periodicals, Inc. Thyroid hormone (T3) and thyroid receptors (TRα and TRβ) are the major components of the thyroid hormone pathway. The link between thyroid pathway and neuronal development is proven in clinical medicine. Since the thyroid hormone levels in Autistic children are normal, variations in their receptors needs to be explored. To achieve this objective, changes in THRA and THRB receptor genes was studied in 30 ASD and normal children from India. The impact of some of these mutations on receptor function was also studied. © 2017 International Society for Autism Research, Wiley Periodicals, Inc.

  7. História da caracterização nosológica do transtorno bipolar History of the nosologic characterization of bipolar disorder

    Directory of Open Access Journals (Sweden)

    José Alberto Del-Porto

    2005-01-01

    Full Text Available Os autores apresentam uma sintética revisão da história da doença bipolar, a partir de Araeteus da Capadócia até os tempos atuais. O conceito moderno de doença bipolar foi iniciado na França, com os trabalhos de Falret (1851 e Baillarger (1856. Os conceitos seminais de Emil Kraepelin mudaram as bases da nosologia psiquiátrica, e o seu conceito unitário a respeito da "insanidade maníaco-depressiva" foi amplamente aceito e adotado. As idéias de Kraepelin e Weigandt constituíram-se na pedra angular para sua concepção unitária da doença maníaco-depressiva. Depois de Kraepelin, no entanto, as idéias de Kleist e Leonhard, na Alemanha, e o trabalho de Angst, Perris e Winokur enfatizaram a distinção entre as formas unipolar e bipolar da depressão. Mais recentemente a ênfase mudou novamente para o espectro bipolar, que se estende até os limites dos temperamentos normais (Akiskal e colaboradores. Finalizando, os autores sumarizam as controvérsias quanto à nosologia do transtorno bipolar e suas fronteiras com a esquizofrenia, os quadros esquizoafetivos e as chamadas psicoses ciclóides.The authors review briefly the history of bipolar disorder from Araeteus of Cappadocia to our times. The modern concept of bipolar disorder was built in France, through the work of Falret (1851 and Baillarger (1854. The pivotal concepts of Emil Kraepelin changed the basis of psychiatric nosology, and Kraepelin's unitary concept of manic-depressive insanity was largely accepted. Kraepelin and Weigandt's ideas on mixed states were a cornerstone to this unitary concept. After Kraepelin however, the ideas of Kleist and Leonhard, in Germany, and the work of Angst, Perris and Winokur emphasized the distinction between unipolar and bipolar forms of depression. More recently the emphasis changed again to the bipolar spectrum, which expanded to the borders of the normal temperaments (Akiskal and co-workers. At the end the authors summarize the controversies

  8. Characterization of oligosaccharides with capillary high performance anion exchange chromatography hyphenated to pulsed amperometric detection and ion trap mass spectrometry : application to the analysis of human lysosomal disorders

    NARCIS (Netherlands)

    Bruggink, Cornelis

    The development of a capillary ion chromatograph is described together with a matching desalter. This desalter made it possible to use on-line a mass spectrometer. The mass spectrometer enables partly to characterize carbohydrates eluting from the anion exchange column. This separation technology is

  9. Neurogenetics: sex and the female brain.

    Science.gov (United States)

    Billeter, Jean-Christophe; Levine, Joel D

    2014-09-08

    Male flies put on a multimedia show during courtship involving dance, song, perfume and even vibrations; if a female likes it, she pauses to let him know. Recent studies shed new light on how development and experience contribute to neural mechanisms of female sexual receptivity. Copyright © 2014 Elsevier Ltd. All rights reserved.

  10. Drosophila chemotaxis: a first look with neurogenetics.

    Science.gov (United States)

    Gao, Xiaojing J

    2014-01-01

    Chemotaxis, the ability to direct movements according to chemical cues in the environment, is important for the survival of most organisms. In our original article, we combined a quantitative behavioral assay with genetic manipulations to dissect the neural substrate for chemotaxis. In this Extra View article, we offer a more chronological narration of the findings leading to our key conclusion that aversion engages specific motor-related circuits and kinematics. We speculate on the separation and crosstalk between aversion and attraction circuits in the brain and the ventral nerve cord, and the implication for valence encoding in the olfactory system.

  11. Vasopressin and the Neurogenetics of Parental Care.

    Science.gov (United States)

    Snyder-Mackler, Noah; Tung, Jenny

    2017-07-05

    Making robust connections between genetic variation, neurophysiology, and social behavior remains a challenge. A study by Bendesky et al. (2017) tackles this challenge by dissecting the genetic architecture of parental care in deer mice to discover an important contribution of vasopressin signaling to the evolution of nest building. Copyright © 2017 Elsevier Inc. All rights reserved.

  12. Tools for neuroanatomy and neurogenetics in Drosophila

    Energy Technology Data Exchange (ETDEWEB)

    Pfeiffer, Barret D.; Jenett, Arnim; Hammonds, Ann S.; Ngo, Teri-T B.; Misra, Sima; Murphy, Christine; Scully, Audra; Carlson, Joseph W.; Wan, Kenneth H.; Laverty, Todd R.; Mungall, Chris; Svirskas, Rob; Kadonaga, James T.; Doe, Chris Q.; Eisen, Michael B.; Celniker, Susan E.; Rubin, Gerald M.

    2008-08-11

    We demonstrate the feasibility of generating thousands of transgenic Drosophila melanogaster lines in which the expression of an exogenous gene is reproducibly directed to distinct small subsets of cells in the adult brain. We expect the expression patterns produced by the collection of 5,000 lines that we are currently generating to encompass all neurons in the brain in a variety of intersecting patterns. Overlapping 3-kb DNA fragments from the flanking noncoding and intronic regions of genes thought to have patterned expression in the adult brain were inserted into a defined genomic location by site-specific recombination. These fragments were then assayed for their ability to function as transcriptional enhancers in conjunction with a synthetic core promoter designed to work with a wide variety of enhancer types. An analysis of 44 fragments from four genes found that >80% drive expression patterns in the brain; the observed patterns were, on average, comprised of <100 cells. Our results suggest that the D. melanogaster genome contains >50,000 enhancers and that multiple enhancers drive distinct subsets of expression of a gene in each tissue and developmental stage. We expect that these lines will be valuable tools for neuroanatomy as well as for the elucidation of neuronal circuits and information flow in the fly brain.

  13. Neurogenetics : sex and the female brain

    NARCIS (Netherlands)

    Billeter, Jean-Christophe; Levine, Joel D

    2014-01-01

    Male flies put on a multimedia show during courtship involving dance, song, perfume and even vibrations; if a female likes it, she pauses to let him know. Recent studies shed new light on how development and experience contribute to neural mechanisms of female sexual receptivity.

  14. Emotional stimuli and motor conversion disorder

    NARCIS (Netherlands)

    Voon, V.; Brezing, C.; Gallea, C.; Ameli, R.; Roelofs, K.; LaFrance, W.C.; Hallett, M.

    2010-01-01

    Conversion disorder is characterized by neurological signs and symptoms related to an underlying psychological issue. Amygdala activity to affective stimuli is well characterized in healthy volunteers with greater amygdala activity to both negative and positive stimuli relative to neutral stimuli,

  15. Meige's Syndrome: Rare Neurological Disorder Presenting as Conversion Disorder.

    Science.gov (United States)

    Debadatta, Mohapatra; Mishra, Ajay K

    2013-07-01

    Meige's syndrome is a rare neurological syndrome characterized by oromandibular dystonia and blepharospasm. Its pathophysiology is not clearly determined. A 35-year-old female presented to psychiatric department with blepharospasm and oromandibular dystonia with clinical provisional diagnosis of psychiatric disorder (Conversion Disorder). After thorough physical examination including detailed neurological exam and psychiatric evaluation no formal medical or psychiatric diagnosis could be made. The other differential diagnoses of extra pyramidal symptom, tardive dyskinesia, conversion disorder, anxiety disorder were ruled out by formal diagnostic criteria. Consequently with suspicion of Meige's syndrome she was referred to the department of Neurology and the diagnosis was confirmed. Hence, Meige's syndrome could be misdiagnosed as a psychiatric disorder such as conversion disorder or anxiety disorder because clinical features of Meige's syndrome are highly variable and affected by psychological factors and also can be inhibited voluntarily to some extent.

  16. Inventive activity of the Department of Protein Structure and Function of the Palladin Institute of Biochemistry of NAS of Ukraine. Part I. Development of the diagnostic methods for detection of hemostasis disorders and characterization of certain blood coagulation factors

    Directory of Open Access Journals (Sweden)

    V. M. Danilova

    2016-04-01

    Full Text Available The practical aspects of inventive activity of the Department of Protein Structure and Function of the Palladin Institute of Biochemistry, NAS of Ukraine are highlighted in this article. Through years of fundamental and applied researches of blood coagulation system proteins, initiated by luminaries of the world biochemistry O. V. Palladin and V. O. Belitser, the Department staff have developed a considerable number of methods, techniques and tests for the assessment of the state of the hemostasis system, which were approved in many clinics. In the first part of this work the authors describe the development of the diagnostic methods for identifying the homeostasis system disorders in detail, as well as characterize certain coagulation factors.

  17. Attention Deficit Hyperactivity Disorder

    Science.gov (United States)

    Matthews, Marguerite; Nigg, Joel T.

    2014-01-01

    Over the last two decades, there have been numerous technical and methodological advances available to clinicians and researchers to better understand attention deficit hyperactivity disorder (ADHD) and its etiology. Despite the growing body of literature investigating the disorder’s pathophysiology, ADHD remains a complex psychiatric disorder to characterize. This chapter will briefly review the literature on ADHD, with a focus on its history, the current genetic insights, neurophysiologic theories, and the use of neuroimaging to further understand the etiology. We address some of the major concerns that remain unclear about ADHD, including subtype instability, heterogeneity, and the underlying neural correlates that define the disorder. We highlight that the field of ADHD is rapidly evolving; the descriptions provided here will hopefully provide a sturdy foundation for which to build and improve our understanding of the disorder. PMID:24214656

  18. Anxiety Disorders

    Science.gov (United States)

    ... the death of a loved one or parents' divorce) and major life transitions (like moving to a ... Ways to Deal With Anxiety Dealing With Difficult Emotions Anxiety Disorders Posttraumatic Stress Disorder Fears and Phobias ...

  19. Bipolar Disorder

    Science.gov (United States)

    Bipolar disorder is a serious mental illness. People who have it go through unusual mood changes. They go ... The down feeling is depression. The causes of bipolar disorder aren't always clear. It runs in families. ...

  20. Mathematics disorder

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001534.htm Mathematics disorder To use the sharing features on this page, please enable JavaScript. Mathematics disorder is a condition in which a child's ...

  1. Personality Disorders

    Science.gov (United States)

    Personality disorders are a group of mental illnesses. They involve long-term patterns of thoughts and behaviors ... serious problems with relationships and work. People with personality disorders have trouble dealing with everyday stresses and ...

  2. Oppositional defiant disorder

    Science.gov (United States)

    ... as possibilities: Anxiety disorders Attention-deficit/hyperactivity disorder (ADHD) Bipolar disorder Depression Learning disorders Substance abuse disorders Treatment The best treatment for the child is to ...

  3. Panic Disorder and Women

    Science.gov (United States)

    ... health illnesses Alcoholism, substance abuse, and addictive behavior Anxiety disorders Attention deficit hyperactivity disorder Bipolar disorder (manic depressive illness) Borderline personality disorder Depression Eating disorders Post-traumatic ...

  4. Eating Disorders

    OpenAIRE

    Gucciardi, Enza; Celasun, Nalan; Ahmad, Farah; Stewart, Donna E

    2004-01-01

    Abstract Health Issue Eating disorders are an increasing public health problem among young women. Anorexia and bulimia may give rise to serious physical conditions such as hypothermia, hypotension, electrolyte imbalance, endocrine disorders, and kidney failure. Key Issues Eating disorders are primarily a problem among women. In Ontario in 1995, over 90% of reported hospitalized cases of anorexia and bulimia were women. In addition to eating disorders, preoccupation with weight, body image and...

  5. Antisocial Personality disorder | Chinasa | Abia State University ...

    African Journals Online (AJOL)

    Personality disorders are mental disorders that are characterized by persistent maladaptive patterns of behavior, cognition and inner experience. These patterns develop early in life, are inflexible and associated with significant distress or disability. Antisocial personality disorder (ASPD) is a psychiatric condition ...

  6. Bipolar Disorder.

    Science.gov (United States)

    Spearing, Melissa

    Bipolar disorder, a brain disorder that causes unusual shifts in a person's mood, affects approximately one percent of the population. It commonly occurs in late adolescence and is often unrecognized. The diagnosis of bipolar disorder is made on the basis of symptoms, course of illness, and when possible, family history. Thoughts of suicide are…

  7. Regression in autistic spectrum disorders.

    Science.gov (United States)

    Stefanatos, Gerry A

    2008-12-01

    A significant proportion of children diagnosed with Autistic Spectrum Disorder experience a developmental regression characterized by a loss of previously-acquired skills. This may involve a loss of speech or social responsitivity, but often entails both. This paper critically reviews the phenomena of regression in autistic spectrum disorders, highlighting the characteristics of regression, age of onset, temporal course, and long-term outcome. Important considerations for diagnosis are discussed and multiple etiological factors currently hypothesized to underlie the phenomenon are reviewed. It is argued that regressive autistic spectrum disorders can be conceptualized on a spectrum with other regressive disorders that may share common pathophysiological features. The implications of this viewpoint are discussed.

  8. Speech disorders - children

    Science.gov (United States)

    ... disorder; Voice disorders; Vocal disorders; Disfluency; Communication disorder - speech disorder; Speech disorder - stuttering ... evaluation tools that can help identify and diagnose speech disorders: Denver Articulation Screening Examination Goldman-Fristoe Test of ...

  9. Postmodern Stress Disorder (PMSD): A Possible New Disorder.

    Science.gov (United States)

    Eiser, Arnold R

    2015-11-01

    The murder of cardiovascular surgeon, Michael Davidson, MD, suggests the existence of a new disorder, postmodern stress disorder. This disorder is characterized by repetitive exposure to digital images of violence in a variety of electronic media, including films, television, video games, music videos, and other online sources. This disorder appears to be a variant of posttraumatic stress disorder, and shares with it excessive stimulation of the amygdala and loss of the normal inhibitory inputs from the orbitofrontal cingulate cortical gyrus. In postmodern stress disorder, repetitive digital microtraumas appear to have an effect similar to that of macrotraumas of warfare or civilian assaults. Other elements of the disorder include the development of fixed ideas of bullying or public shaming, access to weapons, and loss of impulse control. This syndrome could explain a number of previously inexplicable murders/suicides. Violence against health care professionals is a profound concern for the medical profession, as are assaults on nonclinicians. The recommendation is made to change forensic procedures to include obtaining historic information concerning the use of digital media during investigations of violent crimes and murders so that the disorder may be further characterized. Gaining an understanding of this disorder will require a multidisciplinary approach to this life-threatening public health problem. Research should also focus on the development and evaluation of possible antidotes to postmodern toxicities. Copyright © 2015 Elsevier Inc. All rights reserved.

  10. Neuropsychiatric disorders in Cushing's syndrome

    Science.gov (United States)

    Pivonello, Rosario; Simeoli, Chiara; De Martino, Maria Cristina; Cozzolino, Alessia; De Leo, Monica; Iacuaniello, Davide; Pivonello, Claudia; Negri, Mariarosaria; Pellecchia, Maria Teresa; Iasevoli, Felice; Colao, Annamaria

    2015-01-01

    Endogenous Cushing's syndrome (CS), a rare endocrine disorder characterized by cortisol hypersecretion, is associated with psychiatric and neurocognitive disorders. Major depression, mania, anxiety, and neurocognitive impairment are the most important clinical abnormalities. Moreover, patients most often complain of impairment in quality of life, interference with family life, social, and work performance. Surprisingly, after hypercortisolism resolution, despite the improvement of the overall prevalence of psychiatric and neurocognitive disorders, the brain volume loss at least partially persists and it should be noted that some patients may still display depression, anxiety, panic disorders, and neurocognitive impairment. This brief review aimed at describing the prevalence of psychiatric and neurocognitive disorders and their characterization both during the active and remission phases of CS. The last section of this review is dedicated to quality of life, impaired during active CS and only partially resolved after resolution of hypercortisolism. PMID:25941467

  11. Somatoform disorders in the family doctor's practice

    Directory of Open Access Journals (Sweden)

    Prykhodko V.

    2013-10-01

    Full Text Available Somatoform disorders – psychogenic diseases are characterized by pathological physical symptoms that resemble somatic illness. Thus, any organic manifestations, which can be attributed to known diseases are not detected, but there are non-specific functional impairments. Somatoform disorders include somatization disorder, undifferentiated somatoform disorder, hypocho¬n¬driacal disorder, somatoform dysfunction of the autonomic nervous system and stable somatoform pain disorder. The first part of the article reviewes features of the clinical manifestations of somatization disorder and undifferentiated somatoform disorder. Role of non-benzodiazepine tranquilizers (ADAPTOL and metabolic drugs (VASONAT in the treatment of patients with somatoform disorders is discussed. In review article data of neurologists and cardiologists on the effectiveness of anxiolytic drug ADAPTOL and metabolic drug VASONAT in different clinical groups of patients (coronary artery disease, chronic ischemia of the brain, which can significantly improve quality of life, increase exercise tolerance, improve cognitive function and correct mental and emotional disorders are presented.

  12. Identification and functional characterization of HIV-associated neurocognitive disorders with large-scale Granger causality analysis on resting-state functional MRI

    Science.gov (United States)

    Chockanathan, Udaysankar; DSouza, Adora M.; Abidin, Anas Z.; Schifitto, Giovanni; Wismüller, Axel

    2018-02-01

    Resting-state functional MRI (rs-fMRI), coupled with advanced multivariate time-series analysis methods such as Granger causality, is a promising tool for the development of novel functional connectivity biomarkers of neurologic and psychiatric disease. Recently large-scale Granger causality (lsGC) has been proposed as an alternative to conventional Granger causality (cGC) that extends the scope of robust Granger causal analyses to high-dimensional systems such as the human brain. In this study, lsGC and cGC were comparatively evaluated on their ability to capture neurologic damage associated with HIV-associated neurocognitive disorders (HAND). Functional brain network models were constructed from rs-fMRI data collected from a cohort of HIV+ and HIV- subjects. Graph theoretic properties of the resulting networks were then used to train a support vector machine (SVM) model to predict clinically relevant parameters, such as HIV status and neuropsychometric (NP) scores. For the HIV+/- classification task, lsGC, which yielded a peak area under the receiver operating characteristic curve (AUC) of 0.83, significantly outperformed cGC, which yielded a peak AUC of 0.61, at all parameter settings tested. For the NP score regression task, lsGC, with a minimum mean squared error (MSE) of 0.75, significantly outperformed cGC, with a minimum MSE of 0.84 (p < 0.001, one-tailed paired t-test). These results show that, at optimal parameter settings, lsGC is better able to capture functional brain connectivity correlates of HAND than cGC. However, given the substantial variation in the performance of the two methods at different parameter settings, particularly for the regression task, improved parameter selection criteria are necessary and constitute an area for future research.

  13. Increased seroreactivity in tic disorder patients to a 60 kDa protein band from a neuronal cell line

    NARCIS (Netherlands)

    Hoekstra, P.J.; Limburg, Piet; Troost, P.W.; van Lang, N.; De Bildt, A.; Korf, J; Kallenberg, Cees; Minderaa, R.B.; Horst, G.

    In tic disorders, increased seroreactivity against neuronal antigens has been demonstrated, without performing molecular characterization of antigens. Here, unselected patients with a tic disorder were compared with healthy controls, autistic disorder (AD), and obsessive-compulsive disorder (OCD)

  14. Part I: Structural Characterization of Doped Nanostructured Magnesium: Understanding Disorder for Enhanced Hydrogen Absorption Kinetics Part II: Synthesis, Film Deposition, and Characterization of Quaternary Metal Chalcogenide Nanocrystals for Photovoltaic Applications

    Science.gov (United States)

    Braun, Max B.

    The production, storage, and subsequent consumption of energy are at the foundation of all human activity and livelihood. The theme of this dissertation is the pursuit of fundamental understanding of the chemistry of materials that are used for energy production and storage. A strong emphasis is placed on a synthetic foundation that allows for systematic investigation into the fundamental chemistry that controls the applicable properties of the materials of interest. This dissertation is written in the "journals format" style--which is accepted by the Graduate School at Colorado State University--and is based on one peer-reviewed publication that has appeared in Chemistry of Materials as well as two manuscripts to be submitted, one to The Journal of Physical Chemistry C, and one to ACS Applied Materials and Interfaces. In order to create a context for these publications, Chapters 1 and 3 provide an overview of the motivations for the projects, and then continue to detail the initial synthetic investigations and considerations for the two projects. In addition to recounting Mg nanocrystals synthetic refinement that was necessary for reproducible hydride kinetic analysis, Chapter 1 also briefly introduces some of the conventional models used for fitting of the hydriding kinetics data. Furthermore, initial investigations into the use of these models for our system are presented. Chapter 2 is a paper to be submitted to The Journal of Physical Chemistry C that describes the local and extended structure characterization of Mg nanocrystals (NCs) with a small amount of nickel added during synthesis. Ni has a dramatic effect on the de/hydriding kinetics of Mg NCs, and this chapter describes the use of a combination of multiple state-of-the-art characterization techniques to gain insight into the structural perturbations due to Ni inclusion in the Mg NCs. This insight is then used to establish the characteristics of Ni inclusion that results in the enhanced hydrogen

  15. Improvement of fetus growth restriction diagnostics in pregnant women by means of biochemical markers that characterize the disorder of stress-adaptation

    Directory of Open Access Journals (Sweden)

    N. G. Kolokot

    2018-04-01

    Full Text Available Object of the work. Regulatory and adaptive processes of the system “mother –placenta – fetus” state determination and detection of pregnant women adaptive capabilities specific features in case of fetus growth restriction based on a number of the blood plasma biochemical indicators. Materials and methods. Markers of oxidative stress were detected spectrophotometrically in the blood plasma according to generally accepted methods: oxidative modification of proteins, stable metabolites of nitrogen oxide, L-arginine, malondialdehyde, thiol compounds and reduced glutathione. Statistical processing of data was made by methods of variational statistics with Microsoft Office Excel 2010, Statistica 6.0. Results. The use applicability of the number of biochemical markers which are predictors of perinatal complications has been scientifically substantiated. Using biochemical diagnostic technique it has been shown that fetus growth restriction syndrome is accompanied by disorders of regulatory and adaptive processes of the system “mother –placenta – fetus”. In particular, the level of proteins and lipids oxidative modification increases, nitric oxide synthase activity decreases and reserves of L-arginine and thiol compounds decrease in the blood plasma. Conclusions. Comparative analysis of a number of biochemical markers determination results of stress-realizing system activity in pregnant women with fetus growth restriction and in women with a physiological pregnancy has revealed a significant (P ≤ 0.05 increase in markers of protein oxidative modification blood levels (the level of dinitrophenylhydrazones of aliphatic aldehyd of basic amino acid residues and dinitrophenylhydrazones of carbonyl compounds of basic amino acid residues in the spontaneous sample increased by 14.2 % and 16.3 %, respectively, and in the stimulated sample by 46.6 % and 43.0 %, the level of malondialdehyde increased by 42.9 %. Reduction of the stress

  16. Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

    Directory of Open Access Journals (Sweden)

    Marchiani Valentina

    2011-06-01

    Full Text Available Abstract Background The breadth of the clinical spectrum underlying Pelizaeus-Merzbacher disease and spastic paraplegia type 2 is due to the extensive allelic heterogeneity in the X-linked PLP1 gene encoding myelin proteolipid protein (PLP. PLP1 mutations range from gene duplications of variable size found in 60-70% of patients to intragenic lesions present in 15-20% of patients. Methods Forty-eight male patients from 38 unrelated families with a PLP1-related disorder were studied. All DNA samples were screened for PLP1 gene duplications using real-time PCR. PLP1 gene sequencing analysis was performed on patients negative for the duplication. The mutational status of all 14 potential carrier mothers of the familial PLP1 gene mutation was determined as well as 15/24 potential carrier mothers of the PLP1 duplication. Results and Conclusions PLP1 gene duplications were identified in 24 of the unrelated patients whereas a variety of intragenic PLP1 mutations were found in the remaining 14 patients. Of the 14 different intragenic lesions, 11 were novel; these included one nonsense and 7 missense mutations, a 657-bp deletion, a microdeletion and a microduplication. The functional significance of the novel PLP1 missense mutations, all occurring at evolutionarily conserved residues, was analysed by the MutPred tool whereas their potential effect on splicing was ascertained using the Skippy algorithm and a neural network. Although MutPred predicted that all 7 novel missense mutations would be likely to be deleterious, in silico analysis indicated that four of them (p.Leu146Val, p.Leu159Pro, p.Thr230Ile, p.Ala247Asp might cause exon skipping by altering exonic splicing elements. These predictions were then investigated in vitro for both p.Leu146Val and p.Thr230Ile by means of RNA or minigene studies and were subsequently confirmed in the case of p.Leu146Val. Peripheral neuropathy was noted in four patients harbouring intragenic mutations that altered RNA

  17. Skin Picking Disorder

    Directory of Open Access Journals (Sweden)

    Pinar Cetinay Aydin

    2014-08-01

    Full Text Available Skin picking disorder is not a dermatological disorder and it is a table characterized with picking skin excessively and repetitively, leading to damage in skin tissue. Unlike normal picking behaviour, psychogenic skin picking is repetitive and it can lead to severe damage in the skin and even complications which constitute vital danger. While some patients define frequent but short lasting picking attacks, others define rarer attacks which last a few hours. Skin picking disorder, which is not included in the classification systems up to DSM-5 as a separate diagnosis category, is included as an independent diagnosis in Obsessive Compulsive Disorder and Associated Disorders category in DSM-5. In case reports, open label studies and double blind studies selective serotonin reuptake inhibitors are shown to be effective in the treatment of skin picking disorder. Mostly, cognitive-behaviourial techniques are used and have been proven to be useful in psychotherapy. Habit reversal is one of the behaviourial techniques which are frequently applied, give positive results in which well-being state can be maintained. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2014; 6(4.000: 401-428

  18. Mental disorders, brain disorders, neurodevelopmental disorders ...

    African Journals Online (AJOL)

    . Amongst DSM's most vocal 'insider' critics has been Thomas Insel, Director of the US National Institute of Mental Health. Insel has publicly criticised DSM's adherence to a symptom-based classification of mental disorder, and used the weight ...

  19. Hunner-Type (Classic Interstitial Cystitis: A Distinct Inflammatory Disorder Characterized by Pancystitis, with Frequent Expansion of Clonal B-Cells and Epithelial Denudation.

    Directory of Open Access Journals (Sweden)

    Daichi Maeda

    Full Text Available Interstitial cystitis (IC is a chronic bladder disease with urinary frequency, bladder discomfort or bladder pain of unknown etiology. Based on cystoscopic findings, patients with IC are classified as either Hunner-type/classic IC (HIC, presenting with a specific Hunner lesion, or non-Hunner-type IC (NHIC, presenting with no Hunner lesion, but post-hydrodistension mucosal bleeding. Inflammatory cell infiltration, composed predominantly of lymphocytes, plasma cells and epithelial denudation, has in the past been documented as a major pathological IC finding. However, the significance of the pathological evaluation of IC, especially with regard to the difference between HIC and NHIC, has been downplayed in recent years. In this study, we performed immunohistochemical quantification of infiltrating T-lymphocytes, B-lymphocytes and plasma cells, and measured the amount of residual epithelium in urinary bladder biopsy specimens taken from patients with HIC and NHIC, and those with no IC, using image analysis software. In addition, in situ hybridization of the light chains was performed to examine clonal B-cell expansion. Lymphoplasmacytic infiltration was significantly more severe in HIC specimens than in NHIC specimens (P <0.0001. Substantial lymphoplasmacytic inflammation (≥200 cells/mm2 was observed in 93% of HIC specimens, whereas only 8% of NHIC specimens were inflamed. Plasmacytic infiltration was more prominent in HIC specimens compared with NHIC and non-IC cystitis specimens (P <0.005. Furthermore, expansion of light-chain-restricted B-cells was observed in 31% of cases of HIC. The amount of residual epithelium was decreased in HIC specimens compared with NHIC specimens and non-IC cystitis specimens (P <0.0001. These results suggest that NHIC and HIC are distinct pathological entities, with the latter characterized by pancystitis, frequent clonal B-cell expansion and epithelial denudation. An abnormality in the B-cell population may be

  20. Tourette disorder and other tic disorders.

    Science.gov (United States)

    Fernandez, Thomas V; State, Matthew W; Pittenger, Christopher

    2018-01-01

    Tourette disorder is a developmental neuropsychiatric condition characterized by vocal and motor tics that can range in severity from mild to disabling. It represents one end of a spectrum of tic disorders and is estimated to affect 0.5-0.7% of the population. Accumulated evidence supports a substantial genetic contribution to disease risk, but the identification of genetic variants that confer risk has been challenging. Positive findings in candidate gene association studies have not replicated, and genomewide association studies have not generated signals of genomewide significance, in large part because of inadequate sample sizes. Rare mutations in several genes have been identified, but their causality is difficult to establish. As in other complex neuropsychiatric disorders, it is likely that Tourette disorder risk involves a combination of common, low-effect and rare, larger-effect variants in multiple genes acting together with environmental factors. With the ongoing collection of larger patient cohorts and the emergence of affordable high-throughput genomewide sequencing, progress is expected to accelerate in coming years. Copyright © 2018 Elsevier B.V. All rights reserved.

  1. Cephalic Disorders

    Science.gov (United States)

    ... information sheet compiled by the National Institute of Neurological Disorders and Stroke (NINDS). Patient Organizations Birth Defect Research for Children, Inc. 976 Lake Baldwin Lane Suite 104 Orlando ...

  2. Childhood Disintegrative Disorder as a Complication of Chicken Pox.

    Science.gov (United States)

    Verma, Jitendra Kumar; Mohapatra, Satyakam

    2016-01-01

    Childhood disintegrative disorder (CDD) is characterized by late onset (>3 years of age) of developmental delays in language, social function and motor skills. Commonly there is no antecedent physical disorder leading to childhood disintegrative disorder. The present case report describes a child who developed childhood disintegrative disorder at the age of 6 years after an episode of chicken pox.

  3. Eating Disorders and Epigenetics.

    Science.gov (United States)

    Thaler, Lea; Steiger, Howard

    2017-01-01

    Eating disorders (EDs) are characterized by intense preoccupation with shape and weight and maladaptive eating practices. The complex of symptoms that characterize EDs often arise through the activation of latent genetic potentials by environmental exposures, and epigenetic mechanisms are believed to link environmental exposures to gene expression. This chapter provides an overview of genetic factors acting in the etiology of EDs. It then provides a background to the hypothesis that epigenetic mechanisms link stresses such as obstetric complications and childhood abuse as well as effects of malnutrition to eating disorders (EDs). The chapter then summarizes the emerging body of literature on epigenetics and EDs-mainly studies on DNA methylation in samples of anorexia and bulimia. The available evidence base suggests that an epigenetically informed perspective contributes in valuable ways to the understanding of why people develop EDs.

  4. Autism and sleep disorders

    OpenAIRE

    Devnani, Preeti A.; Hegde, Anaita U.

    2015-01-01

    “Autism Spectrum Disorders” (ASDs) are neurodevelopment disorders and are characterized by persistent impairments in reciprocal social interaction and communication. Sleep problems in ASD, are a prominent feature that have an impact on social interaction, day to day life, academic achievement, and have been correlated with increased maternal stress and parental sleep disruption. Polysomnography studies of ASD children showed most of their abnormalities related to rapid eye movement (REM) slee...

  5. Personality disorders

    NARCIS (Netherlands)

    van den Bosch, L.M.C.; Verheul, R.; Verster, J.C.; Brady, K.; Galanter, M.; Conrod, P.

    2012-01-01

    Subject of this chapter is the often found combination of personality disorders and ­substance abuse disorders. The serious nature of this comorbidity is shown through the discussion of prevalence and epidemiological data. Literature shows that the comorbidity, hampering the diagnostic process, is

  6. Dysthymic disorder: forlorn and overlooked?

    Science.gov (United States)

    Sansone, Randy A; Sansone, Lori A

    2009-05-01

    This ongoing column is dedicated to the challenging clinical interface between psychiatry and primary care-two fields that are inexorably linked.Dysthymic disorder is a smoldering mood disturbance characterized by a long duration (at least two years in adults) as well as transient periods of normal mood. The disorder is fairly common in the US general population (3-6%) as well as in primary care (7%) and mental health settings (up to one-third of psychiatric outpatients). While the etiology of dysthymia remains unknown, there appears to be a genetic susceptibility, which may manifest in the presence of various psychosocial stressors. While the Diagnostic and Statistical Manual of Mental Disorders diagnostic criteria are fairly clear, the disorder can be easily under-recognized for a variety of reasons. Treatment may include pharmacotherapy and psychotherapy, although the overall treatment course is oftentimes characterized by protracted symptoms and relapses.

  7. Personality disorder

    DEFF Research Database (Denmark)

    Tyrer, Peter; Mulder, Roger; Crawford, Mike

    2010-01-01

    and to society, and interferes, usually negatively, with progress in the treatment of other mental disorders. We now have evidence that personality disorder, as currently classified, affects around 6% of the world population, and the differences between countries show no consistent variation. We are also getting......Personality disorder is now being accepted as an important condition in mainstream psychiatry across the world. Although it often remains unrecognized in ordinary practice, research studies have shown it is common, creates considerable morbidity, is associated with high costs to services...... increasing evidence that some treatments, mainly psychological, are of value in this group of disorders. What is now needed is a new classification that is of greater value to clinicians, and the WPA Section on Personality Disorders is currently undertaking this task....

  8. Gambling disorders.

    Science.gov (United States)

    Hodgins, David C; Stea, Jonathan N; Grant, Jon E

    2011-11-26

    Gambling disorders, including pathological gambling and problem gambling, have received increased attention from clinicians and researchers over the past three decades since gambling opportunities have expanded around the world. This Seminar reviews prevalence, causes and associated features, screening and diagnosis, and treatment approaches. Gambling disorders affect 0·2-5·3% of adults worldwide, although measurement and prevalence varies according to the screening instruments and methods used, and availability and accessibility of gambling opportunities. Several distinct treatment approaches have been favourably evaluated, such as cognitive behavioural and brief treatment models and pharmacological interventions. Although promising, family therapy and support from Gamblers Anonymous are less well empirically supported. Gambling disorders are highly comorbid with other mental health and substance use disorders, and a further understanding is needed of both the causes and treatment implications of this disorder. Copyright © 2011 Elsevier Ltd. All rights reserved.

  9. Autism spectrum disorder - childhood disintegrative disorder

    Science.gov (United States)

    ... part of the larger developmental disorder category of autism spectrum disorder . ... American Psychiatric Association. Autism spectrum disorder. ... VA: American Psychiatric Publishing: 2013;50-59. Raviola GJ, ...

  10. Macrophage migration inhibitory factor and autism spectrum disorders

    NARCIS (Netherlands)

    Grigorenko, Elena L.; Han, Summer S.; Yrigollen, Carolyn M.; Leng, Lin; Mizue, Yuka; Anderson, George M.; Mulder, Erik J.; de Bildt, Annelies; Minderaa, Ruud B.; Volkmar, Fred R.; Chang, Joseph T.; Bucala, Richard

    OBJECTIVE. Autistic spectrum disorders are childhood neurodevelopmental disorders characterized by social and communicative impairment and repetitive and stereotypical behavior. Macrophage migration inhibitory factor (MIF) is an upstream regulator of innate immunity that promotes

  11. Conduct Disorder amongst Children in an Urban School in Nigeria ...

    African Journals Online (AJOL)

    Nigerian Health Journal ... Background: Conduct disorder is a childhood behavioral disorder characterized by aggressive and ... The various behaviours exhibited included bullying and or threatening classmates and other students, poor ...

  12. Poor Sleep and Its Relation to Impulsivity in Patients with Antisocial or Borderline Personality Disorders

    NARCIS (Netherlands)

    Van Veen, M. M.; Karsten, J.; Lancel, M.

    2017-01-01

    Studies investigating sleep and personality disorders consistently demonstrate a relation between personality disorders characterized by behavioral disinhibition and/or emotional dysregulation (traditionally termed cluster B personality disorders) and poor sleep. This finding is in line with

  13. Night Eating Disorders

    Directory of Open Access Journals (Sweden)

    Deniz Tuncel

    2009-08-01

    Full Text Available Hunger is an awakening related biological impulse. The relationship between hunger and sleep is moderated by the control of homeostatic and circadian rhytms of the body. Abnormal eating behavior during sleep period could result from different causes. Abnormal eating during the main sleep period has been categorized as either night eating syndrome or sleep related eating disorder. Night eating syndrome (NES is an eating disorder characterised by the clinical features of morning anorexia, evening hyperphagia, and insomnia with awakenings followed by nocturnal food ingestion. Recently night eating syndrome, conceptualized as a delayed circadian intake of food. Sleep-related eating disorder, thought to represent a parasomnia and as such included within the revised International Classification of Sleep Disorders (ICSD-2, and characterized by nocturnal partial arousals associated with recurrent episodes of involuntary food consumption and altered levels of consciousness. Whether, however, sleep-related eating disorder and night eating syndrome represent different diseases or are part of a continuum is still debated. This review summarizes their characteristics, treatment outcomes and differences between them.

  14. Generalized Anxiety Disorder and Social Anxiety Disorder, but Not Panic Anxiety Disorder, Are Associated with Higher Sensitivity to Learning from Negative Feedback: Behavioral and Computational Investigation

    OpenAIRE

    Khdour, Hussain Y.; Abushalbaq, Oday M.; Mughrabi, Ibrahim T.; Imam, Aya F.; Gluck, Mark A.; Herzallah, Mohammad M.; Moustafa, Ahmed A.

    2016-01-01

    Anxiety disorders, including generalized anxiety disorder (GAD), social anxiety disorder (SAD), and panic anxiety disorder (PAD), are a group of common psychiatric conditions. They are characterized by excessive worrying, uneasiness, and fear of future events, such that they affect social and occupational functioning. Anxiety disorders can alter behavior and cognition as well, yet little is known about the particular domains they affect. In this study, we tested the cognitive correlates of me...

  15. Disease: H00689 [KEGG MEDICUS

    Lifescience Database Archive (English)

    Full Text Available H00689 Delayed sleep phase syndrome Delayed sleep phase disorder is characterized ...by a 3 to 6-hour delayed sleep schedule relative to the desired. The single nucleotide polymorphism (Ala129T...dentified in patients with delayed sleep phase disorder. Sleep disorder AANAT (po...rion A ... TITLE ... Circadian rhythm sleep disorders. ... JOURNAL ... Dis Mon 57:423-37 (2011) DOI:10.1016/j.disa...sferase ( AA-NAT) gene with delayed sleep phase syndrome. ... JOURNAL ... Neurogenetics 4:151-3 (2003) DOI:10.1007/s10048-002-0141-9

  16. [Dissociative disorders and affective disorders].

    Science.gov (United States)

    Montant, J; Adida, M; Belzeaux, R; Cermolacce, M; Pringuey, D; Da Fonseca, D; Azorin, J-M

    2014-12-01

    The phenomenology of dissociative disorders may be complex and sometimes confusing. We describe here two cases who were initially misdiagnosed. The first case concerned a 61 year-old woman, who was initially diagnosed as an isolated dissociative fugue and was actually suffering from severe major depressive episode. The second case concerned a 55 year-old man, who was suffering from type I bipolar disorder and polyvascular disease, and was initially diagnosed as dissociative fugue in a mooddestabilization context, while it was finally a stroke. Yet dissociative disorders as affective disorder comorbidity are relatively unknown. We made a review on this topic. Dissociative disorders are often studied through psycho-trauma issues. Litterature is rare on affective illness comorbid with dissociative disorders, but highlight the link between bipolar and dissociative disorders. The later comorbidity often refers to an early onset subtype with also comorbid panic and depersonalization-derealization disorder. Besides, unipolar patients suffering from dissociative symptoms have more often cyclothymic affective temperament. Despite the limits of such studies dissociative symptoms-BD association seems to correspond to a clinical reality and further works on this topic may be warranted. Copyright © 2014 L’Encéphale. Published by Elsevier Masson SAS.. All rights reserved.

  17. Meeting Disorders.

    Science.gov (United States)

    Yager, Joel; Katzman, Jeffrey W

    2017-12-01

    Although meetings are central to organizational work, considerable time devoted to meetings in Academic Health Centers appears to be unproductively spent. The primary purposes of this article are to delineate and describe Meeting Disorders, pathological processes resulting in these inefficient and ineffective scenarios, and Meeting Fatigue Disorder (MFD), a clinical syndrome. The paper also offers preliminary approaches to remedies. The authors integrate observations made during tens of thousands of hours in administrative meetings in academic medical settings with information in the literature regarding the nature, causes and potential interventions for dysfunctional groups and meetings. Meeting Disorders, resulting from distinct pathologies of leadership and organization, constitute prevalent subgroups of the bureaucrapathologies, pathological conditions caused by dysfunctional bureaucratic processes that generate excesses of wasted time, effort, and other resources. These disorders also generate frustration and demoralization among participants, contributing to professional burnout. Meeting Fatigue Disorder (MFD) is a subjective condition that develops in individuals who overdose on these experiences and may reflect one manifestation of burnout. Meeting disorders and Meeting Fatigue Disorder occur commonly in bureaucratic life. Resources and potential remedies are available to help ameliorate their more deleterious effects.

  18. Sleep-related movement disorders.

    Science.gov (United States)

    Merlino, Giovanni; Gigli, Gian Luigi

    2012-06-01

    Several movement disorders may occur during nocturnal rest disrupting sleep. A part of these complaints is characterized by relatively simple, non-purposeful and usually stereotyped movements. The last version of the International Classification of Sleep Disorders includes these clinical conditions (i.e. restless legs syndrome, periodic limb movement disorder, sleep-related leg cramps, sleep-related bruxism and sleep-related rhythmic movement disorder) under the category entitled sleep-related movement disorders. Moreover, apparently physiological movements (e.g. alternating leg muscle activation and excessive hypnic fragmentary myoclonus) can show a high frequency and severity impairing sleep quality. Clinical and, in specific cases, neurophysiological assessments are required to detect the presence of nocturnal movement complaints. Patients reporting poor sleep due to these abnormal movements should undergo non-pharmacological or pharmacological treatments.

  19. Autism Spectrum Disorders in Iran

    OpenAIRE

    Mohammad Reza MOHAMMADI; Maryam SALMANIAN; Shahin AKHONDZADEH

    2011-01-01

    How to Cite this Article: Mohammadi MR, Salmanian M, Akhondzadeh Sh. Autism Spectrum Disorders in Iran. Iranian Journal of Child Neurology2011;5(4):1-9.ObjectiveAutistic disorder, Asperger syndrome, and PDD-Not Otherwise Specified are subsets of autism spectrum disorders (ASDs), which are characterized by impairments in social communication and stereotyped behavior. This article reviews the prevalence, etiology, diagnosis, and treatment of ASDs in Iran.Materials & MethodsWe searched PubMe...

  20. Conduct disorder

    Science.gov (United States)

    ... develop problems with drug abuse and the law. Depression and bipolar disorder may develop in the teen years and early adulthood. Suicide and violence toward others are also possible complications.

  1. Sleep Disorders

    Science.gov (United States)

    ... the day, even if you have had enough sleep? You might have a sleep disorder. The most common kinds are Insomnia - a hard time falling or staying asleep Sleep apnea - breathing interruptions during sleep Restless legs syndrome - ...

  2. Eating Disorders

    Science.gov (United States)

    ... to control them. Avoidant/Restrictive Food Intake Disorder (ARFID) ARFID is a new term that some people think ... eating issues can also cause it. People with ARFID don't have anorexia or bulimia, but they ...

  3. Factitious Disorder

    Science.gov (United States)

    ... support their claims. Factitious disorder signs and symptoms may include: Clever and convincing medical or psychological problems Extensive knowledge of medical terms and diseases Vague or inconsistent symptoms Conditions that get worse for no apparent ...

  4. Neuromuscular Disorders

    Science.gov (United States)

    ... lead to twitching, cramps, aches and pains, and joint and movement problems. Sometimes it also affects heart function and your ability to breathe. Examples of neuromuscular disorders include Amyotrophic lateral sclerosis Multiple sclerosis Myasthenia ...

  5. Conduct Disorder

    Science.gov (United States)

    ... objections runs away from home often truant from school Children who exhibit these behaviors should receive a comprehensive evaluation by an experience mental health professional. Many children with a conduct disorder may ...

  6. Amnestic Disorders

    NARCIS (Netherlands)

    Kessels, R.P.C.; Savage, G.; Cautin, R.L.; Lilienfeld, S.O.

    2015-01-01

    Amnestic disorders may involve deficits in the encoding or storage of information in memory, or in retrieval of information from memory. Etiologies vary and include traumatic brain injury, neurodegenerative disease, and psychiatric illness. Different forms of amnesia can be distinguished:

  7. Sleep Disorders

    DEFF Research Database (Denmark)

    Rahbek Kornum, Birgitte; Mignot, Emmanuel

    2014-01-01

    mediates circadian regulation of sleep. Misalignment with the rhythm of the sun results in circadian disorders and jet lag. The molecular basis of homeostatic sleep regulation is mostly unknown. A network of mutually inhibitory brain nuclei regulates sleep states and sleep-wake transitions. Abnormalities...... in these networks create sleep disorders, including rapid eye movement sleep behavior disorder, sleep walking, and narcolepsy. Physiological changes associated with sleep can be imbalanced, resulting in excess movements such as periodic leg movements during sleep or abnormal breathing in obstructive sleep apneas....... As every organ in the body is affected by sleep directly or indirectly, sleep and sleep-associated disorders are frequent and only now starting to be understood....

  8. TMJ Disorders

    Science.gov (United States)

    ... Aching pain in and around your ear Difficulty chewing or pain while chewing Aching facial pain Locking of the joint, making ... disorder. When to see a doctor Seek medical attention if you have persistent pain or tenderness in ...

  9. Autoimmune disorders

    Science.gov (United States)

    ... exact cause of autoimmune disorders is unknown. One theory is that some microorganisms (such as bacteria or ... M. is also a founding member of Hi-Ethics and subscribes to the principles of the Health ...

  10. Rastreamento de sinais e sintomas de transtornos do espectro do autismo em irmãos Screening for signs and symptoms of autism spectrum disorders in siblings

    Directory of Open Access Journals (Sweden)

    Tatiana Pontrelli Mecca

    2011-01-01

    Full Text Available Os transtornos globais do desenvolvimento (TGD são caracterizados por anormalidades qualitativas e abrangentes em três domínios do desenvolvimento: interação social recíproca, comunicação e presença de um repertório comportamental de interesses restritos, repetitivo e estereotipado. Estudos genéticos têm identificado a recorrência de TGD numa mesma família. O presente estudo teve por objetivo rastrear a ocorrência de sinais e sintomas de TGD em irmãos de indivíduos com esse diagnóstico. Participaram do estudo 25 sujeitos provenientes de 19 famílias. A coleta de dados foi realizada mediante a utilização da versão brasileira do Autism Screening Questionnaire (ASQ, ou Questionário de Comportamento e Comunicação Social. Foram confirmados dois casos de irmãos com TGD (10,52% dos casos, sendo um irmão gêmeo monozigótico e um irmão de um probando com diagnóstico de síndrome de Asperger. Os dados apontam para taxas mais elevadas do que aquelas descritas na literatura (2-6% e se aproximam dos achados que relatam 10% de recorrência familiar em gêmeos dizigóticos. Esse resultado fornece evidências de possíveis fatores neurogenéticos para explicar a ocorrência de TGD nos familiares dos probandos estudados e salienta a necessidade de efetuar o rastreamento desse transtorno não só na criança avaliada, mas também em seus irmãos.Pervasive developmental disorders (PDD are characterized by comprehensive and qualitative abnormalities affecting three areas of development: reciprocal social interaction, communication, and a repetitive, stereotyped behavioral repertoire, of limited interests. Genetic studies have identified the recurrence of PDD in the same family. The present study aimed to trace the occurrence of signs and symptoms of PDD in the siblings of patients with this diagnosis. The study included 25 subjects from 19 families. Data collection was performed using the Brazilian version of the Autism Screening

  11. Eating disorders

    OpenAIRE

    Kontić Olga; Vasiljević Nadja; Trišović Marija; Jorga Jagoda; Lakić Aneta; Jašović-Gašić Miroslava

    2012-01-01

    Eating disorders are considered chronic diseases of civilization. The most studied and well known are anorexia and bulimia nervosa. Anorexia is considered one of the most common psychiatric problems of girls in puberty and adolescence. Due to high mortality and morbidity as well as the increasing expansion of these diseases, it is clear why the amount of research on these diseases is growing worldwide. Eating disorders lead to numerous medical complications, mostly due to late diagnosis...

  12. Genetic Characterization of Movement Disorders and Dementias

    Science.gov (United States)

    2018-04-27

    Ataxia; Dystonia; Parkinson's Disease; Amyotrophic Lateral Sclerosis; Corticobasal Degeneration; Multiple System Atrophy; Alzheimer's Disease; Lewy Body Dementia; Parkinson Disease-Dementia; Dentatorubral-pallidoluysian Atrophy; Creutzfeldt-Jakob Disease and Fatal Familial Insomnia; Fragile X-associated Tremor/Ataxia Syndrome; Krabbe's Disease; Niemann-Pick Disease, Type C; Neuronal Ceroid Lipofuscinosis

  13. Rumination in bipolar disorder: evidence for an unquiet mind

    OpenAIRE

    Ghaznavi, Sharmin; Deckersbach, Thilo

    2012-01-01

    Abstract Depression in bipolar disorder has long been thought to be a state characterized by mental inactivity. However, recent research demonstrates that patients with bipolar disorder engage in rumination, a form of self-focused repetitive cognitive activity, in depressed as well as in manic states. While rumination has long been associated with depressed states in major depressive disorder, the finding that patients with bipolar disorder ruminate in manic states is unique to bipolar disord...

  14. Oppositional Defiant Disorder (ODD)

    Science.gov (United States)

    ... Antisocial behavior Impulse control problems Substance use disorder Suicide Many children and teens with ODD also have other mental health disorders, such as: Attention-deficit/hyperactivity disorder (ADHD) Conduct disorder Depression Anxiety Learning and communication disorders Treating these other ...

  15. Holographic p-wave superconductor with disorder

    International Nuclear Information System (INIS)

    Areán, D.; Farahi, A.; Zayas, L.A. Pando; Landea, I. Salazar; Scardicchio, A.

    2015-01-01

    We implement the effects of disorder on a holographic p-wave superconductor by introducing a random chemical potential which defines the local energy of the charge carriers. Since there are various possibilities for the orientation of the vector order parameter, we explore the behavior of the condensate in the parallel and perpendicular directions to the introduced disorder. We clarify the nature of various branches representing competing solutions and construct the disordered phase diagram. We find that moderate disorder enhances superconductivity as determined by the value of the condensate. Though we mostly focus on uncorrelated noise, we also consider a disorder characterized by its spectral properties and study in detail its influence on the spectral properties of the condensate and charge density. We find fairly universal responses of the resulting power spectra characterized by linear functions of the disorder power spectrum.

  16. Strongly disordered superconductors

    International Nuclear Information System (INIS)

    Muttalib, K.A.

    1982-01-01

    We examine some universal effects of strong non-magnetic disorder on the electron-phonon and electron-electron interactions in a superconductor. In particular we explicitly take into account the effect of slow diffusion of electrons in a disordered medium by working in an exact impurity eigenstate representation. We find that the normal diffusion of electrons characterized by a constant diffusion coefficient does not lead to any significant correction to the electron-phonon or the effective electron-electron interactions in a superconductor. We then consider sufficiently strong disorder where Anderson localization of electrons becomes important and determine the effect of localization on the electron-electron interactions. We find that due to localization, the diffusion of electrons becomes anomalous in the sense that the diffusion coefficient becomes scale dependent. This results in an increase in the effective electron-electron interaction with increasing disorder. We propose that this provides a natural explanation for the unusual sensitivity of the transition temperature T/sub c/ of the high T/sub c/ superconductors (T/sub c/ > 10 0 K) to damage effects

  17. Tic disorders.

    Science.gov (United States)

    Martino, Davide; Mink, Jonathan W

    2013-10-01

    Primary tic disorders are complex, multifactorial disorders in which tics are accompanied by other sensory features and an array of comorbid behavioral disorders. Secondary tics are proportionally much less frequent, but their etiology is diverse. This review aims to guide clinicians in the recognition of the phenomenology, pathophysiology, and treatment of these disorders. Advances include greater phenomenologic insights, particularly of nonmotor (sensory) features; increased knowledge of disease mechanisms, particularly coming from neuropsychological, functional imaging, pathologic, and animal model studies; growing evidence on the efficacy of alpha-2 agonists and the newer generation of dopamine-modulating agents; and recent strides in the evaluation of cognitive-behavioral therapy and deep brain stimulation surgery. The correct diagnostic approach to tic disorders requires accurate historical gathering, a thorough neurologic examination, and detailed definition of the patient's psychopathologic profile. Treatment should always begin with individualized psychoeducational strategies. Although pharmacologic treatments remain beneficial for most patients, cognitive-behavioral treatments have thus far shown promising efficacy. Deep brain stimulation surgery should still be limited to adult patients refractory to pharmacotherapy and cognitive-behavioral therapy.

  18. Imagery Rescripting in Posttraumatic Stress Disorder

    Science.gov (United States)

    Hackmann, Anne

    2011-01-01

    This article provides an overview of methods of working with imagery to change meanings and ameliorate posttraumatic stress disorder (PTSD). It opens with a description of phenomenology in this disorder, usually characterized by a small number of recurrent images of the trauma, each representing a moment that warned of a threat to the physical or…

  19. Integrative Response Therapy for Binge Eating Disorder

    Science.gov (United States)

    Robinson, Athena

    2013-01-01

    Binge eating disorder (BED), a chronic condition characterized by eating disorder psychopathology and physical and social disability, represents a significant public health problem. Guided self-help (GSH) treatments for BED appear promising and may be more readily disseminable to mental health care providers, accessible to patients, and…

  20. Case Study: Camptocormia, a Rare Conversion Disorder.

    Science.gov (United States)

    Rajmohan, Velayudhan; Thomas, Biju; Sreekumar, Kumaran

    2004-01-01

    Camptocormia is a condition characterized by severe frontal flexion of the spinal cord and knees, with passive drooping of both arms. It occurs as a form of conversion disorder. Some cases are associated with behavioral problems. A case of camptocormia of 2-year duration in a south Indian adolescent girl with oppositional defiant disorder and…

  1. Differentiating hypochondriasis from panic disorder.

    Science.gov (United States)

    Hiller, Wolfgang; Leibbrand, Rolf; Rief, Winfried; Fichter, Manfred M

    2005-01-01

    Hypochondriasis and panic disorder are both characterized by prevalent health anxieties and illness beliefs. Therefore, the question as to whether they represent distinct nosological entities has been raised. This study examines how clinical characteristics can be used to differentiate both disorders, taking the possibility of mixed symptomatologies (comorbidity) into account. We compared 46 patients with hypochondriasis, 45 with panic disorder, and 21 with comorbid hypochondriasis plus panic disorder. While panic patients had more comorbidity with agoraphobia, hypochondriasis was more closely associated with somatization. Patients with panic disorder were less pathological than hypochondriacal patients on all subscales of the Whiteley Index (WI) and the Illness Attitude Scales (IAS) except for illness behavior. These differences were independent of somatization. Patients with hypochondriasis plus panic had higher levels of anxiety, more somatization, more general psychopathology and a trend towards increased health care utilization. Clinicians were able to distinguish between patient groups based upon the tendency of hypochondriacal patients to demand unnecessary medical treatments. These results confirm that hypochondriasis and panic disorder are distinguishable clinical conditions, characterized by generally more psychopathology and distress in hypochondriasis.

  2. [Body dysmorphic disorder].

    Science.gov (United States)

    Grau, Katharina; Fegert, Jörg Michael; Allroggen, Marc

    2015-01-01

    Body dysmorphic disorder (BDD) is a relatively common disorder with a point prevalence of 0.7-2.4 %. BDD is characterized by the patient's excessive concern with an imagined or slight defect in physical appearance. BDD usually begins in adolescence. Comorbidity rates and also suicidality rates are high. The course of BDD tends to be chronic. According to the present state of knowledge, cognitive-behavioral therapy and pharmacotherapy with selective serotonin reuptake inhibitors are valuable options in the therapy of BDD. The case report describes a recent case of BDD with typical clinical and therapy-related characteristics. The aim of this work is to strengthen the awareness of BDD in clinical practice of child and adolescent psychiatry, facilitating an adequate diagnosis and treatment of the affected individuals.

  3. Digested disorder

    Science.gov (United States)

    DeForte, Shelly; Reddy, Krishna D; Uversky, Vladimir N

    2013-01-01

    The current literature on intrinsically disordered proteins is overwhelming. To keep interested readers up to speed with this literature, we continue a “Digested Disorder” project and represent a series of reader’s digest type articles objectively representing the research papers and reviews on intrinsically disordered proteins. The only 2 criteria for inclusion in this digest are the publication date (a paper should be published within the covered time frame) and topic (a paper should be dedicated to any aspect of protein intrinsic disorder). The current digest issue covers papers published during the period of April, May, and June of 2013. The papers are grouped hierarchically by topics they cover, and for each of the included paper a short description is given on its major findings. PMID:28516028

  4. Digested disorder

    Science.gov (United States)

    Reddy, Krishna D; DeForte, Shelly; Uversky, Vladimir N

    2014-01-01

    The current literature on intrinsically disordered proteins grows fast. To keep interested readers up to speed with this literature, we continue a “Digested Disorder” project and represent a new issue of reader’s digest of the research papers and reviews on intrinsically disordered proteins. The only 2 criteria for inclusion in this digest are the publication date (a paper should be published within the covered time frame) and topic (a paper should be dedicated to any aspect of protein intrinsic disorder). The current digest issue covers papers published during the third quarter of 2013; i.e., during the period of June, July, and September of 2013. Similar to previous issues, the papers are grouped hierarchically by topics they cover, and for each of the included paper a short description is given on its major findings. PMID:28232877

  5. The overlap between binge eating disorder and substance use disorders

    DEFF Research Database (Denmark)

    Schreiber, Liana R N; Odlaug, Brian Lawrence; Grant, Jon E

    2013-01-01

    BACKGROUND AND AIMS: Binge eating disorder (BED) is a relatively common condition, especially in young adult females, and is characterized by chronic over-consumption of food resulting in embarrassment, distress, and potential health problems. It is formally included as a disorder in DSM-5...... use disorder, binging, obesity, food addiction, comorbidity, dopamine, opioid, serotonin, glutamate, and pharmacological treatment were the keywords used in searching. RESULTS: BED shares similar phenomenology to SUD, including significant urges to engage in binging episodes, resulting in distress...... and impairment. Similar neurobiological pathways are found in both BED and SUD and medications based on similar neurobiology have been examined for both disorders. A subset of individuals with BED may have a "food addiction", but there is no clinical agreement on the meaning of "food addiction". Exploring...

  6. Recovery from Binge Eating Disorder

    Science.gov (United States)

    Krentz, Adrienne; Chew, Judy; Arthur, Nancy

    2005-01-01

    The purpose of this study was to characterize the psychological processes of recovery from binge eating disorder (BED). A model was developed by asking the research question, "What is the experience of recovery for women with BED?" Unstructured interviews were conducted with six women who met the DSM-IV criteria for BED, and who were recovered…

  7. Skin disorders in Parkinson's disease

    DEFF Research Database (Denmark)

    Ravn, Astrid-Helene; Thyssen, Jacob P; Egeberg, Alexander

    2017-01-01

    Parkinson's disease (PD) is one of the most common neurodegenerative disorders, characterized by a symptom triad comprising resting tremor, rigidity, and akinesia. In addition, non-motor symptoms of PD are well recognized and often precede the overt motor manifestations. Cutaneous manifestations...

  8. Body dysmorphic disorder: history and curiosities.

    Science.gov (United States)

    França, Katlein; Roccia, Maria Grazia; Castillo, David; ALHarbi, Mana; Tchernev, Georgi; Chokoeva, Anastasia; Lotti, Torello; Fioranelli, Massimo

    2017-10-01

    Body dysmorphic disorder is a chronic psychiatric disorder characterized by excessive preoccupation with an absent or minimal physical deformity. It causes severe distress and impairs normal functioning. In the last centuries, this disorder has been mentioned in the medical literature by important mental health practitioners by different names, such as "dysmorphophobia" or "dermatologic hypochondriasis". However, not until the last century was it included among the obsessive-compulsive disorders, although its classification has changed over time.Patients with body dysmorphic disorder constantly seek cosmetic treatments in order to improve their physical appearance, which more often deteriorates their mental condition. The high prevalence of psychiatric disorders in cosmetic medical practice has led in this field of study to the new science "cosmetic psychodermatology". This paper presents a summary of important facts about body dysmorphic disorder and its description throughout the history of medicine.

  9. Hoarding: From a Symptom to a Disorder

    Directory of Open Access Journals (Sweden)

    Suheyla Dogan Bulut

    2015-09-01

    Full Text Available Hoarding is a psychological disorder characterized by excessive collecting, storage and inability to discard large quantities of the objects, usually accompanying a severe level of distress or dysfunctionality. Despite the concept has been known for more than a century, it used to be conceptualized as a component of obsessive compulsive disorder. However, hoarding disorder appears as a distinct psychiatric disorder in the last updated version of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5. Accordingly, in this review we aimed to make a general framework in understanding of hoarding disorder which is an attention-grabbing diagnosis in these days. In this regard, we addressed the etiology, clinical features of, and treatment approaches to hoarding disorder. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2015; 7(3.000: 319-332

  10. [Motility disorders of the esophagus].

    Science.gov (United States)

    Bruder, E; Rougemont, A-L; Furlano, R I; Schneider, J F; Mayr, J; Haecker, F-M; Beier, K; Schneider, J; Weber, P; Berberich, T; Cathomas, G; Meier-Ruge, W A

    2013-03-01

    Motility disorders of the esophagus comprise a heterogeneous spectrum of diseases. Primary malformations of the esophagus are now amenable to improved surgical and gastroenterological therapies; however, they often lead to persistent long-term esophageal dysmotility. Achalasia originates from impaired relaxation of the gastroesophageal sphincter apparatus. Systemic diseases may give rise to secondary disorders of esophageal motility. A number of visceral neuromuscular disorders show an esophageal manifestation but aganglionosis rarely extends into the esophagus. The growing group of myopathies includes metabolic and mitochondrial disorders with increasing levels of genetic characterization and incipient emergence of therapeutic strategies. Esophagitis with an infectious etiology causes severe dysmotility particularly in immunocompromised patients. Immunologically mediated inflammatory processes involving the esophagus are increasingly better understood. Finally, rare tumors and tumor-like lesions may impair esophageal motor function.

  11. Movement disorders

    International Nuclear Information System (INIS)

    Leenders, K.L.

    1986-01-01

    This thesis describes the measurement of brain-tissue functions in patients with movement disorders using positron emission tomography (PET). This scanning technique is a method for direct in vivo quantitation of the regional tissue content of positron emitting radionuclides in brain (or other organs) in an essentially non-invasive way. Ch. 2 outlines some general features of PET and describes the scanner which has been used for the studies in this thesis. Also the tracer methodology, as applied to data investigations of movement disorders, are discussed. Ch. 3 contains the results of the PET investigations which were performed in the study of movement disorders. The results are presented in the form of 12 papers. The main goals of these studies were the understanding of the pathophysiology of Parkinson's disease, Huntington's chorea, Steele-Richardson-Olzewski syndrome and special case reports. Ch. 4 summarizes the results of these publications and Ch. 5 concludes the main part of this thesis with a general discussion of movement disorders in relation to PET investigations. 697 refs.; 60 figs.; 31 tabs

  12. Penis Disorders

    Science.gov (United States)

    Problems with the penis can cause pain and affect a man's sexual function and fertility. Penis disorders include Erectile dysfunction - inability to get or ... not go away Peyronie's disease - bending of the penis during an erection due to a hard lump ...

  13. Bipolar Disorder

    Science.gov (United States)

    ... one or other traumatic event Drug or alcohol abuse Complications Left untreated, bipolar disorder can result in serious problems that affect every area of your life, such as: Problems related to drug and alcohol use Suicide or suicide attempts Legal or financial problems Damaged ...

  14. Hoarding disorder

    Science.gov (United States)

    ... a reminder of happier times or representing beloved people or pets They feel safer when surrounded by the things ... that are part of hoarding disorder. Hoarding animals People who hoard animals may collect dozens or even hundreds of pets. Animals may be confined inside or outside. Because ...

  15. Anorectal Disorders

    Science.gov (United States)

    Rao, Satish S. C.; Bharucha, Adil E.; Chiarioni, Giuseppe; Felt-Bersma, Richelle; Knowles, Charles; Malcolm, Allison; Wald, Arnold

    2016-01-01

    This report defines criteria and reviews the epidemiology, pathophysiology, and management of the following common anorectal disorders: fecal incontinence (FI), functional anorectal pain, and functional defecation disorders. FI is defined as the recurrent uncontrolled passage of fecal material for at least 3 months. The clinical features of FI are useful for guiding diagnostic testing and therapy. Anorectal manometry and imaging are useful for evaluating anal and pelvic floor structure and function. Education, antidiarrheals, and biofeedback therapy are the mainstay of management; surgery may be useful in refractory cases. Functional anorectal pain syndromes are defined by clinical features and categorized into 3 subtypes. In proctalgia fugax, the pain is typically fleeting and lasts for seconds to minutes. In levator ani syndrome and unspecified anorectal pain, the pain lasts more than 30 minutes, but in levator ani syndrome there is puborectalis tenderness. Functional defecation disorders are defined by ≥2 symptoms of chronic constipation or irritable bowel syndrome with constipation, and with ≥2 features of impaired evacuation, that is, abnormal evacuation pattern on manometry, abnormal balloon expulsion test, or impaired rectal evacuation by imaging. It includes 2 subtypes: dyssynergic defecation and inadequate defecatory propulsion. Pelvic floor biofeedback therapy is effective for treating levator ani syndrome and defecatory disorders. PMID:27144630

  16. Depressive Disorders

    Science.gov (United States)

    Brown, Jacqueline A.; Russell, Samantha; Rasor, Kaitlin

    2017-01-01

    Depression is among the most common mental disorders in the United States. Its diagnosis is often related to impairment of functioning across several domains, including how an individual thinks, feels, and participates in daily activities. Although depression has a relatively high prevalence among adults, the rate is alarmingly higher among…

  17. Eating disorders

    Directory of Open Access Journals (Sweden)

    Kontić Olga

    2012-01-01

    Full Text Available Eating disorders are considered chronic diseases of civilization. The most studied and well known are anorexia and bulimia nervosa. Anorexia is considered one of the most common psychiatric problems of girls in puberty and adolescence. Due to high mortality and morbidity as well as the increasing expansion of these diseases, it is clear why the amount of research on these diseases is growing worldwide. Eating disorders lead to numerous medical complications, mostly due to late diagnosis. The main characteristic of these diseases is changed behavior in the nutrition, either as an intentional restriction of food, i.e. extreme dieting, or overeating, i.e. binge eating. Extreme dieting, skipping meals, self-induced vomiting, excessive exercise, and misuse of laxatives and diuretics for the purpose of maintaining or reducing body weight are characteristic forms of compensatory behavior of patients with eating disorder. The most appropriate course of treatment is determined by evaluating the patient’s health condition, associated with behavior and eating habits, the experience of one’s own body, character traits of personality, and consequently the development and functioning of the individual. The final treatment plan is individual. Eating disorders are a growing medical problem even in this part of the world. Prevention should be planned in cooperation with different sectors so as to stop the epidemic of these diseases.

  18. Balance Disorders

    Science.gov (United States)

    ... vertigo. If you have additional problems with motor control, such as weakness, slowness, tremor, or rigidity, you can lose your ability to recover properly from imbalance. This raises the risk of falling and injury. What are some types of balance disorders? There are more than a dozen different ...

  19. Vascular Disorders

    Science.gov (United States)

    ... All Topics A-Z Videos Infographics Symptom Picker Anatomy Bones Joints Muscles Nerves Vessels Tendons About Hand Surgery What is a Hand Surgeon? What is a Hand Therapist? Media Find a Hand Surgeon Home Anatomy Vascular Disorders Email to a friend * required fields ...

  20. Autism and Related Disorders

    Science.gov (United States)

    McPartland, James; Volkmar, Fred R.

    2012-01-01

    The Pervasive Developmental Disorders are a group of neurodevelopmental disorders that include Autistic Disorder, Asperger’s Disorder, Pervasive Developmental Disorder - Not Otherwise Specified (PDD-NOS), Childhood Disintegrative Disorder (CDD), and Rett’s Disorder. All feature childhood onset with a constellation of symptoms spanning social interaction and communication and including atypical behavior patterns. The first three disorders (Autistic Disorder, Asperger’s Disorder, and PDD-NOS) are currently referred to as Autism Spectrum Disorders, reflecting divergent phenotypic and etiologic characteristics compared to Rett’s Disorder and CDD. This chapter reviews relevant research and clinical information relevant to appropriate medical diagnosis and treatment. PMID:22608634

  1. Congenital amusia: a cognitive disorder limited to resolved harmonics and with no peripheral basis

    Science.gov (United States)

    Cousineaua, Marion; Oxenham, Andrew J.; Peretz, Isabelle

    2015-01-01

    Pitch plays a fundamental role in audition, from speech and music perception to auditory scene analysis. Congenital amusia is a neurogenetic disorder that appears to affect primarily pitch and melody perception. Pitch is normally conveyed by the spectro-temporal fine structure of low harmonics, but some pitch information is available in the temporal envelope produced by the interactions of higher harmonics. Using 10 amusic subjects and 10 matched controls, we tested the hypothesis that amusics suffer exclusively from impaired processing of spectro-temporal fine structure. We also tested whether the inability of amusics to process acoustic temporal fine structure extends beyond pitch by measuring sensitivity to interaural time differences, which also rely on temporal fine structure. Further tests were carried out on basic intensity and spectral resolution. As expected, pitch perception based on spectro-temporal fine structure was impaired in amusics; however, no significant deficits were observed in amusics' ability to perceive the pitch conveyed via temporal-envelope cues. Sensitivity to interaural time differences was also not significantly different between the amusic and control groups, ruling out deficits in the peripheral coding of temporal fine structure. Finally, no significant differences in intensity or spectral resolution were found between the amusic and control groups. The results demonstrate a pitch-specific deficit in fine spectro-temporal information processing in amusia that seems unrelated to temporal or spectral coding in the auditory periphery. These results are consistent with the view that there are distinct mechanisms dedicated to processing resolved and unresolved harmonics in the general population, the former being altered in congenital amusia while the latter is spared. PMID:25433224

  2. Congenital amusia: a cognitive disorder limited to resolved harmonics and with no peripheral basis.

    Science.gov (United States)

    Cousineau, Marion; Oxenham, Andrew J; Peretz, Isabelle

    2015-01-01

    Pitch plays a fundamental role in audition, from speech and music perception to auditory scene analysis. Congenital amusia is a neurogenetic disorder that appears to affect primarily pitch and melody perception. Pitch is normally conveyed by the spectro-temporal fine structure of low harmonics, but some pitch information is available in the temporal envelope produced by the interactions of higher harmonics. Using 10 amusic subjects and 10 matched controls, we tested the hypothesis that amusics suffer exclusively from impaired processing of spectro-temporal fine structure. We also tested whether the inability of amusics to process acoustic temporal fine structure extends beyond pitch by measuring sensitivity to interaural time differences, which also rely on temporal fine structure. Further tests were carried out on basic intensity and spectral resolution. As expected, pitch perception based on spectro-temporal fine structure was impaired in amusics; however, no significant deficits were observed in amusics' ability to perceive the pitch conveyed via temporal-envelope cues. Sensitivity to interaural time differences was also not significantly different between the amusic and control groups, ruling out deficits in the peripheral coding of temporal fine structure. Finally, no significant differences in intensity or spectral resolution were found between the amusic and control groups. The results demonstrate a pitch-specific deficit in fine spectro-temporal information processing in amusia that seems unrelated to temporal or spectral coding in the auditory periphery. These results are consistent with the view that there are distinct mechanisms dedicated to processing resolved and unresolved harmonics in the general population, the former being altered in congenital amusia while the latter is spared. Copyright © 2014 Elsevier Ltd. All rights reserved.

  3. Mental Health Disorders. Adolescent Health Highlight. Publication #2013-1

    Science.gov (United States)

    Murphey, David; Barry, Megan; Vaughn, Brigitte

    2013-01-01

    Mental disorders are diagnosable conditions characterized by changes in thinking, mood, or behavior (or some combination of these) that can cause a person to feel stressed out and impair his or her ability to function. These disorders are common in adolescence. This "Adolescent Health Highlight" presents the warning signs of mental disorders;…

  4. Public stigma of prolonged grief disorder : An experimental study

    NARCIS (Netherlands)

    Eisma, Maarten C.

    Prolonged grief disorder (PGD), characterized by severe, persistent and disabling grief, is being considered for inclusion in the International Classification of Diseases’ 11 (ICD-11) and a related disorder, Persistent Complex Bereavement Disorder (PCBD), is included for further investigation in the

  5. Post traumatic stress disorder: undiagnosed cases in a tertiary ...

    African Journals Online (AJOL)

    Objective: Post traumatic stress disorder (PTSD) is a common, debilitating anxiety disorder characterized by emotional and physical symptoms that may occur after exposure to a severely traumatic event. Since it occurs commonly as a comorbid diagnosis with other mood- and anxiety disorders, we postulated that this ...

  6. Neural Mechanisms of Emotion Regulation in Autism Spectrum Disorder

    Science.gov (United States)

    Richey, J. Anthony; Damiano, Cara R.; Sabatino, Antoinette; Rittenberg, Alison; Petty, Chris; Bizzell, Josh; Voyvodic, James; Heller, Aaron S.; Coffman, Marika C.; Smoski, Moria; Davidson, Richard J.; Dichter, Gabriel S.

    2015-01-01

    Autism spectrum disorder (ASD) is characterized by high rates of comorbid internalizing and externalizing disorders. One mechanistic account of these comorbidities is that ASD is characterized by impaired emotion regulation (ER) that results in deficits modulating emotional responses. We assessed neural activation during cognitive reappraisal of…

  7. Bipolar Disorder and Obsessive Compulsive Disorder Comorbidity

    Directory of Open Access Journals (Sweden)

    Necla Keskin

    2014-08-01

    Full Text Available The comorbidity of bipolar disorder and anxiety disorders is a well known concept. Obsessive-compulsive disorder is the most commonly seen comorbid anxiety disorder in bipolar patients. Some genetic variants, neurotransmitters especially serotonergic systems and second-messenger systems are thought to be responsible for its etiology. Bipolar disorder alters the clinical aspects of obsessive compulsive disorder and is associated with poorer outcome. The determination of comorbidity between bipolar disorder and obsessive compulsive disorder is quite important for appropriate clinical management and treatment. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2014; 6(4.000: 429-437

  8. Life events and bipolar disorder : The influence of life events on the onset and course of bipolar disorder

    NARCIS (Netherlands)

    Kemner, Sanne

    2017-01-01

    In the Netherlands, bipolar disorder (also known as manic-depressive illness) is diagnosed in approximately 2% of the population. The disorder is characterized by alternating periods of raised activity and (manic) mood and periods of reduced activity with lowered (depressed) mood. Bipolar disorder

  9. Executive Functioning Differences between Adults with Attention Deficit Hyperactivity Disorder and Autistic Spectrum Disorder in Initiation, Planning and Strategy Formation

    Science.gov (United States)

    Bramham, Jessica; Ambery, Fiona; Young, Susan; Morris, Robin; Russell, Ailsa; Xenitidis, Kiriakos; Asherson, Philip; Murphy, Declan

    2009-01-01

    Executive functioning deficits characterize the neuropsychological profiles of the childhood neurodevelopmental disorders of attention deficit hyperactivity disorder (ADHD) and autistic spectrum disorder (ASD). This study sought to determine whether similar impairments exist in adults with ADHD (N = 53) and ASD (N = 45) in comparison with a…

  10. NEUROPSYCHIATRIC DISORDERS IN CUSHING’S SYNDROME

    Directory of Open Access Journals (Sweden)

    Rosario ePivonello

    2015-04-01

    Full Text Available Endogenous Cushing’s syndrome (CS, a rare endocrine disorder characterized by cortisol hypersecretion, is associated with psychiatric and neurocognitive disorders. Major depression, mania, anxiety and neurocognitive impairment are the most important clinical abnormalities. Moreover, patients most often complain of impairment in quality of life, interference with family life, social and work performance. Surprisingly, after hypercortisolism resolution, despite the improvement of the overall prevalence of psychiatric and neurocognitive disorders, the brain volume loss at least partially persists and it should be noted that some patients may still display depression, anxiety, panic disorders and neurocognitive impairment. This brief review aimed at describing the prevalence of psychiatric and neurocognitive disorders and their characterization both during the active and remission phases of CS. The last section of this review is dedicated to quality of life, impaired during active CS and only partially resolved after resolution of hypercortisolism.

  11. What Are Related Disorders?

    Science.gov (United States)

    ... The Marfan Foundation Marfan & Related Disorders What is Marfan Syndrome? What are Related Disorders? What are the Signs? ... Contact Us Donate Marfan & Related Disorders What is Marfan Syndrome? What are Related Disorders? What are the Signs? ...

  12. Emotional Stimuli and Motor Conversion Disorder

    Science.gov (United States)

    Voon, Valerie; Brezing, Christina; Gallea, Cecile; Ameli, Rezvan; Roelofs, Karin; LaFrance, W. Curt, Jr.; Hallett, Mark

    2010-01-01

    Conversion disorder is characterized by neurological signs and symptoms related to an underlying psychological issue. Amygdala activity to affective stimuli is well characterized in healthy volunteers with greater amygdala activity to both negative and positive stimuli relative to neutral stimuli, and greater activity to negative relative to…

  13. Personality disorders

    DEFF Research Database (Denmark)

    Simonsen, Sebastian; Heinskou, Torben; Sørensen, Per

    2017-01-01

    BACKGROUND: In this naturalistic study, patients with personality disorders (N = 388) treated at Stolpegaard Psychotherapy Center, Mental Health Services, Capital Region of Denmark were allocated to two different kinds of treatment: a standardized treatment package with a preset number of treatment...... characteristics associated with clinicians' allocation of patients to the two different personality disorder services. METHODS: Patient characteristics across eight domains were collected in order to study whether there were systematic differences between patients allocated to the two different treatments....... Patient characteristics included measures of symptom severity, personality pathology, trauma and socio-demographic characteristics. Significance testing and binary regression analysis were applied to identify important predictors. RESULTS: Patient characteristics on fifteen variables differed...

  14. Sleep Patterns in Children with Attention-Deficit/Hyperactivity Disorder, Tic Disorder, and Comorbidity

    Science.gov (United States)

    Kirov, Roumen; Kinkelbur, Joerg; Banaschewski, Tobias; Rothenberger, Aribert

    2007-01-01

    Background: In children, attention-deficit/hyperactivity disorder (ADHD), tic disorder (TD), and their coexistence (ADHD + TD comorbidity) are very common and clinically important. Associated sleep patterns and their clinical role are still insufficiently investigated. This study aimed at characterizing these sleep patterns in children with ADHD,…

  15. Neural mechanisms of social-emotional dysfunction in autism spectrum disorder and conduct disorder

    NARCIS (Netherlands)

    Klapwijk, E.T.

    2018-01-01

    Individuals with autism spectrum disorder (ASD) and individuals with conduct disorder (CD) are characterized by notable impairments in social-emotional functioning. In this thesis social-emotional impairments were investigated using a cognitive neuroscience perspective (i.e., studying cognitive

  16. Weak disorder in Fibonacci sequences

    Energy Technology Data Exchange (ETDEWEB)

    Ben-Naim, E [Theoretical Division and Center for Nonlinear Studies, Los Alamos National Laboratory, Los Alamos, NM 87545 (United States); Krapivsky, P L [Department of Physics and Center for Molecular Cybernetics, Boston University, Boston, MA 02215 (United States)

    2006-05-19

    We study how weak disorder affects the growth of the Fibonacci series. We introduce a family of stochastic sequences that grow by the normal Fibonacci recursion with probability 1 - {epsilon}, but follow a different recursion rule with a small probability {epsilon}. We focus on the weak disorder limit and obtain the Lyapunov exponent that characterizes the typical growth of the sequence elements, using perturbation theory. The limiting distribution for the ratio of consecutive sequence elements is obtained as well. A number of variations to the basic Fibonacci recursion including shift, doubling and copying are considered. (letter to the editor)

  17. Problem Behavior in Children with Autism Spectrum Disorders

    OpenAIRE

    Šteglová, Dominika

    2012-01-01

    This thesis focuses on problem behavior, its manifestations and causes of origin in children with autism spectrum disorders. The thesis is divided into two parts, the theoretical and empirical. The theoretical part focuses on introduction to issues of autism spectrum disorders and problem behavior. Mentioned here is history and etiology of disorders, also the part deals with autistic triad of disability. Among others I try briefly characterize various autism spectrum disorders focusing on inf...

  18. [Autism: An early neurodevelopmental disorder].

    Science.gov (United States)

    Bonnet-Brilhault, F

    2017-04-01

    With approximately 67 million individuals affected worldwide, autism spectrum disorder (ASD) is the fastest growing neurodevelopmental disorder (United Nations, 2011), with a prevalence estimated to be 1/100. In France ASD affects approximately 600,000 individuals (from childhood to adulthood, half of whom are also mentally retarded), who thus have a major handicap in communication and in adapting to daily life, which leads autism to be recognized as a national public health priority. ASD is a neurodevelopmental disorder that affects several domains (i.e., socio-emotional, language, sensori-motor, executive functioning). These disorders are expressed early in life with an age of onset around 18 months. Despite evidence suggesting a strong genetic link with ASD, the genetic determinant remains unclear. The clinical picture is characterized by impairments in social interaction and communication and the presence of restrictive and repetitive behaviors (DSM-5, ICD-10). However, in addition to these two main dimensions there is significant comorbidity between ASD and other neurodevelopmental disorders such as attention deficit hyperactivity disorder or with genetic and medical conditions. One of the diagnostic features of ASD is its early emergence: symptoms must begin in early childhood for a diagnosis to be given. Due to brain plasticity, early interventions are essential to facilitate clinical improvement. Therefore, general practitioners and pediatricians are on the front line to detect early signs of ASD and to guide both medical explorations and early rehabilitation. Copyright © 2017 Elsevier Masson SAS. All rights reserved.

  19. [Neuropsychological assessment in conversion disorder].

    Science.gov (United States)

    Demır, Süleyman; Çelıkel, Feryal Çam; Taycan, Serap Erdoğan; Etıkan, İlker

    2013-01-01

    Conversion disorder is characterized by functional impairment in motor, sensory, or neurovegetative systems that cannot be explained by a general medical condition. Diagnostic systems emphasize the absence of an organic basis for the dysfunction observed in conversion disorder. Nevertheless, there is a growing body of data on the specific functional brain correlates of conversion symptoms, particularly those obtained via neuroimaging and neurophysiological assessment. The present study aimed to determine if there are differences in measures of cognitive functioning between patients with conversion disorder and healthy controls. The hypothesis of the study was that the patients with conversion disorder would have poorer neurocognitive performance than the controls. The patient group included 43 patients diagnosed as conversion disorder and other psychiatric comorbidities according to DSM-IV-TR. Control group 1 included 44 patients diagnosed with similar psychiatric comorbidities, but not conversion diosorder, and control group 2 included 43 healthy individuals. All participants completed a sociodemographic questionnaire and were administered the SCID-I and a neuropsychological test battery of 6 tests, including the Serial Digit Learning Test (SDLT), Auditory Verbal Learning Test (AVLT), Wechsler Memory Scale, Stroop Color Word Interference Test, Benton Judgment of Line Orientation Test (BJLOT), and Cancellation Test. The patient group had significantly poorer performance on the SDLT, AVLT, Stroop Color Word Interference Test, and BJLOT than both control groups. The present findings highlight the differences between the groups in learning and memory, executive and visuospatial functions, and attention, which seemed to be specific to conversion disorder.

  20. Disordered eating practices in gastrointestinal disorders.

    Science.gov (United States)

    Satherley, R; Howard, R; Higgs, S

    2015-01-01

    To systematically review evidence concerning disordered eating practices in dietary-controlled gastrointestinal conditions. Three key questions were examined: a) are disordered eating practices a feature of GI disorders?; b) what abnormal eating practices are present in those with GI disorders?; and c) what factors are associated with the presence of disordered eating in those with GI disorders? By exploring these questions, we aim to develop a conceptual model of disordered eating development in GI disease. Five key databases, Web of Science with Conference Proceedings (1900-2014) and MEDLINE (1950-2014), PubMed, PsycINFO (1967-2014) and Google Scholar, were searched for papers relating to disordered eating practices in those with GI disorders. All papers were quality assessed before being included in the review. Nine papers were included in the review. The majority of papers reported that the prevalence of disordered eating behaviours is greater in populations with GI disorders than in populations of healthy controls. Disordered eating patterns in dietary-controlled GI disorders may be associated with both anxiety and GI symptoms. Evidence concerning the correlates of disordered eating was limited. The presence of disordered eating behaviours is greater in populations with GI disorders than in populations of healthy controls, but the direction of the relationship is not clear. Implications for further research are discussed. Copyright © 2014 Elsevier Ltd. All rights reserved.

  1. [Diagnosis and therapy of anxiety disorders].

    Science.gov (United States)

    Wacker, H R

    1997-07-01

    Anxiety disorders may be encountered by the medical practitioner in the form of phobias, panic disorder or generalized anxiety disorder. A phobia is characterized by a strong, irrational fear of a given object or situation, often resulting in avoidance behavior. Phobic patients usually respond well to cognitive behavioral therapy. Panic disorder, which is distinguished by recurring, unexpected attacks of fear not bound to particular situations, may also be treated with cognitive behavioral therapy and/or with clomipramin, benzodiazepines or selective serotonin reuptake inhibitors. Patients with generalized anxiety disorder, the main symptom of which is a persistent, free-floating fear over a period of at least several months, may be helped through relaxation techniques, counseling and/or medication with low doses of sedating tricyclic compounds or short-term treatment with benzodiazepines. This article will describe anamnestic findings and the results of clinical examinations of patients with anxiety disorders. Factors to be considered in differential diagnosis will be discussed.

  2. Social Anxiety Disorder and Mood Disorders Comorbidity

    Directory of Open Access Journals (Sweden)

    Zerrin Binbay

    2012-03-01

    Full Text Available Social Anxiety Disorder is a common disorder leading functional impairment. The comorbidity between mood disorders with social anxiety disorder is relatively common. This comorbidity impacts the clinical severity, resistance and functionality of patients. The systematic evaluation of the comorbidity in both patient groups should not be ignored and be carefully conducted. In general, social anxiety disorder starts at an earlier age than mood disorders and is reported to be predictor for subsequent major depression. The absence of comorbidity in patients with social anxiety disorder is a predictor of good response to treatment. In bipolar disorder patients with comorbid social anxiety disorder, there is an increased level of general psychopathology. Besides, they have poor outcome and increased risk of suicide. In this article, comorbidity between these two disorders has been evaluated in detail.

  3. Imprinting disorders

    DEFF Research Database (Denmark)

    Eggermann, Thomas; Perez de Nanclares, Guiomar; Maher, Eamonn R

    2015-01-01

    Congenital imprinting disorders (IDs) are characterised by molecular changes affecting imprinted chromosomal regions and genes, i.e. genes that are expressed in a parent-of-origin specific manner. Recent years have seen a great expansion in the range of alterations in regulation, dosage or DNA...... sequence shown to disturb imprinted gene expression, and the correspondingly broad range of resultant clinical syndromes. At the same time, however, it has become clear that this diversity of IDs has common underlying principles, not only in shared molecular mechanisms, but also in interrelated clinical...

  4. Treatment of anxiety disorders

    OpenAIRE

    Bandelow, Borwin; Michaelis, Sophie; Wedekind, Dirk

    2017-01-01

    Anxiety disorders (generalized anxiety disorder, panic disorder/agoraphobia, social anxiety disorder, and others) are the most prevalent psychiatric disorders, and are associated with a high burden of illness. Anxiety disorders are often underrecognized and undertreated in primary care. Treatment is indicated when a patient shows marked distress or suffers from complications resulting from the disorder. The treatment recommendations given in this article are based on guidelines, meta-analyses...

  5. Anxiety disorders: diagnosis and treatment.

    Science.gov (United States)

    Jack, R A; Mathew, R J

    1985-07-01

    Pathologic anxiety, marked by inappropriate apprehension and/or fear, causes patients to seek help. Anxiety is associated with a wide variety of physical illnesses, and these must be initially considered when making a diagnosis. Similarly, anxiety associated with a wide variety of psychiatric syndromes must also be considered. Finally, the possibility of transient situational anxiety is ever present. Once it is determined that a primary anxiety disorder exists, then the presence or absence of phobias, panic attacks, and chronic "free-floating" anxiety will fully characterize the disorder. With an accurate diagnosis in hand, a multifaceted treatment approach can be designed. Effective treatments now exist for phobic and panic disorders, and more effective treatment for chronic generalized anxiety may be forthcoming.

  6. Depression or Endocrine Disorder?: What Mental Health Counselors Need to Know about Hypothyroidism.

    Science.gov (United States)

    Stanley, Paula Helen

    1997-01-01

    Describes hypothyroidism, an endocrine disorder characterized by symptoms that resemble those of depression. Discusses features of the disorder, types and grades of hypothyroidism, causes, valuative techniques for the disorder, and implications of hypothyroidism in counseling and in treating patients suffering from this disorder. (RJM)

  7. Characterization of Disability in Canadians with Mental Disorders Using an Abbreviated Version of a DSM-5 Emerging Measure: The 12-Item WHO Disability Assessment Schedule (WHODAS) 2.0.

    Science.gov (United States)

    Sjonnesen, Kirsten; Bulloch, Andrew G M; Williams, Jeanne; Lavorato, Dina; B Patten, Scott

    2016-04-01

    The World Health Organization Disability Assessment Schedule 2.0 (WHODAS 2.0) is a disability scale included in Section 3 of the fifth edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-5) as a possible replacement for the Global Assessment of Functioning Scale (GAF). To assist Canadian psychiatrists with interpretation of the scale, we have conducted a descriptive analysis using data from the 2012 Canadian Community Health Survey-Mental Health component (CCHS-MH). The 2012 CCHS-MH was a cross-sectional survey of the Canadian community (n = 23,757). The survey included an abbreviated 12-item version of the WHODAS 2.0. Mental disorder diagnoses were assessed for schizophrenia, other psychosis, major depressive episode (MDE), generalized anxiety disorder (GAD), bipolar I disorder, substance abuse/dependence, and alcohol abuse/dependence. Mean scores ranged from 14.2 (95% CI, 14.1 to 14.3) for the overall community population to 23.1 (95% CI, 19.5 to 26.7) for those with schizophrenia, with higher scores indicating greater disability. Furthermore, the difference in scores between those with lifetime and past-month episodes suggests that the scale is sensitive to changes occurring during the course of these disorders; for example, scores varied from 23.6 (95% CI, 22.2 to 25.1) for past-month MDE to 14.4 (95% CI, 14.2 to 14.7) in the lifetime MDE group without a past-year episode. This analysis suggests that the WHODAS 2.0 may be a suitable replacement for the GAF. As a disability measure, even though it is not a mental health-specific instrument, the 12-item WHODAS 2.0 appears to be sensitive to the impact of mental disorders and to changes over the time course of a mental disorder. However, the clinical utility of this measure requires additional assessment. © The Author(s) 2016.

  8. Oxytocin and Psychiatric Disorders

    Directory of Open Access Journals (Sweden)

    Gokce Nur Say

    2016-06-01

    Full Text Available Oxytocin is a neuropeptide that plays critical role in mother-infant bonding, pair bonding and prosocial behaviors. Several neuropsychiatric disorders such as autism, schizophrenia, affective disorders, anxiety disorders, attention deficit/hyperactivity disorder, alcohol/substance addiction, aggression, suicide, eating disorders and personality disorders show abnormalities of oxytocin system. These findings have given rise to the studies searching therapeutic use of oxytocin for psychi-atric disorders. The studies of oxytocin interventions in psychiatric disorders yielded potentially promising findings. This paper reviews the role of oxytocin in emotions, behavior and its effects in psychiatric disorders. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2016; 8(2: 102-113

  9. The incidence of eating disorders in a Danish register study: Associations with suicide risk and mortality

    DEFF Research Database (Denmark)

    Zerwas, Stephanie; Tidselbak Larsen, Janne; Petersen, Liselotte

    2015-01-01

    Our aim was to characterize the incidence rates and cumulative incidence of anorexia nervosa (AN), bulimia nervosa (BN), and eating disorder not otherwise specified (EDNOS), and examine associations among eating disorder diagnoses, suicide attempts, and mortality. Individuals born in Denmark...

  10. Subclinical symptoms of attention-deficit/hyperactivity disorder (ADHD) are associated with specific creative processes

    NARCIS (Netherlands)

    Boot, N.; Nevicka, B.; Baas, M.

    Attention-deficit/hyperactivity disorder (ADHD) is a neurodevelopmental disorder characterized by distractibility, hyperactivity, and impulsive behavior. Although ADHD generally associates with a range of cognitive impairments, evidence suggests that people with ADHD may be more creative than people

  11. Gene-set analysis shows association between FMRP targets and autism spectrum disorder

    NARCIS (Netherlands)

    Jansen, Arija; Dieleman, Gwen C; Smit, August B; Verhage, Matthijs; Verhulst, Frank C; Polderman, Tinca J C; Posthuma, Danielle

    Autism spectrum disorder (ASD) is a heterogeneous group of disorders characterized by problems with social interaction, communication, and repetitive and restricted behavior. Despite its high heritability and the substantial progress made in elucidating genetic associations, the corresponding

  12. Mood disorders in eating disorder patients: Prevalence and chronology of ONSET.

    Science.gov (United States)

    Godart, N; Radon, L; Curt, F; Duclos, J; Perdereau, F; Lang, F; Venisse, J L; Halfon, O; Bizouard, P; Loas, G; Corcos, M; Jeammet, Ph; Flament, M F

    2015-10-01

    In a clinical population, we estimated the frequency of mood disorders among 271 patients suffering from Anorexia Nervosa (AN) and Bulimia Nervosa (BN) in comparison to a control group matched for age and gender. The frequency of mood disorders was measured using the Mini International Neuropsychiatric Interview (MINI), DSM-IV version. Mood disorders were more frequent among eating disorder (ED) patients than among controls, with a global prevalence of the order of 80% for each ED group. The majority of the mood disorders comorbid with ED were depressive disorders (MDD and dysthymia). The relative chronology of onset of these disorders was equivocal, because mood disorders in some cases preceded and in others followed the onset of the eating disorders. Our sample was characterized by patients with severe ED and high comorbidities, and thus do not represent the entire population of AN or BN. This also may have resulted in an overestimation of prevalence. Mood disorders appear significantly more frequently in patients seeking care for ED than in controls. These results have implications for the assessment and treatment of ED patients, and for the aetio-pathogenesis of these disorders. Copyright © 2015 Elsevier B.V. All rights reserved.

  13. Neuromyelitis Optica Spectrum Disorders.

    Science.gov (United States)

    Akaishi, Tetsuya; Nakashima, Ichiro; Sato, Douglas Kazutoshi; Takahashi, Toshiyuki; Fujihara, Kazuo

    2017-05-01

    Neuromyelitis optica (NMO) is clinically characterized by severe optic neuritis and transverse myelitis, but recent studies with anti-aquaporin-4-antibody specific to NMO have revealed that the clinical spectrum is wider than previously thought. International consensus diagnostic criteria propose NMO spectrum disorders (NMOSD) as the term to define the entire spectrum including typical NMO, optic neuritis, acute myelitis, brain syndrome, and their combinations. NMOSD is now divided into anti-aquaporin-4-antibody-seropositive NMOSD and -seronegative NMOSD (or unknown serostatus). MR imaging and optical coherence tomography are indispensable in the diagnosis and evaluation of NMOSD. This article reviews the clinical and MR imaging findings of anti-aquaporin-4-antibody-seropositive and anti-myelin oligodendrocyte glycoprotein-antibody-seropositive NMOSD. Copyright © 2017 Elsevier Inc. All rights reserved.

  14. SOCIOTROPY AND AUTONOMY IN EATING DISORDERS

    OpenAIRE

    Radziwiłłowicz, Wioletta; Czarniak, Katarzyna

    2014-01-01

    Objectives: Studies of development psychopathology and psychia try have shown that personality variables are greatly associated with eating disorders. Sociotropy and autonomy may be features that facilitate the occurrence and persistence of the eating disturbances. Theoretical framework for own research was mainly the A. Beck’s concept of autonomy and sociotropy. The aim of the study was to answer the research question whether a person suffering from an eating disorder is characterized by ...

  15. ATTENTION DEFICIT HYPERACTIVITY DISORDER. A CLINICAL LECTURE

    OpenAIRE

    A. S. Kotov; M. N. Borisova; M. V. Panteleeva; Yu. V. Matyuk; A. V. Shatalin

    2015-01-01

    Attention deficit hyperactivity disorder (ADHD) is a serious problem to pediatric neurologists. The prevalence of ADHD in developed countries ranges from 1 to 20 %. ADHD is characterized by a triad of symptoms: inattention, hyperactivity, and impulsivity (the International Statistical Classification of Diseases, 10th revision, codes it as F90) and it is the most common conduct disorder in children. The etiology of ADHD remains disсutable to the present day; there are a few basic concepts of t...

  16. DISORDERS OF ACID-BASE STATE

    OpenAIRE

    P. F. Litvitskiy

    2011-01-01

    The lecture describes modern data on disorders of acid-base state (ABS): their types, etiology, key stages of pathogenesis, main symptoms, and principles of treatment. The first part of the lecture in present journal characterizes main conception, parameters of ABS in normal state, buffer systems, common mechanisms of BS shifts elimination, etiology and pathogenesis of gas-induced (respiratory) disorders of ABS. The second part of the lecture in following journal will describe not gas-induced...

  17. Posttraumatic Stress Disorder

    Science.gov (United States)

    ... Safe Videos for Educators Search English Español Posttraumatic Stress Disorder (PTSD) KidsHealth / For Parents / Posttraumatic Stress Disorder ( ... My Child? Looking Ahead Print What Is Posttraumatic Stress Disorder (PTSD)? Someone who is the victim of ( ...

  18. Pterins and affective disorders

    NARCIS (Netherlands)

    R. Hoekstra (Rocco)

    2007-01-01

    textabstractThe pathophysiology of affective disorders is largely unknown. In patients with various affective disorders the activity of pterins and related amino acids were investigated before and after clinical treatment. In particular the bipolar affective disorder could be

  19. Paediatric Anxiety Disorders

    Directory of Open Access Journals (Sweden)

    Beena Johnson

    2017-07-01

    Full Text Available Anxiety disorders are highly prevalent among children and are associated with serious morbidity. Lifetime prevalence of paediatric anxiety disorders is about fifteen percent. Social phobia, generalized anxiety disorder and separation anxiety disorder are included in the triad of paediatric anxiety disorders. Specific phobia, obsessive compulsive disorder and post-traumatic stress disorder are also commonly seen in children. Overprotection by parents, parental death or separation, female sex, low educational status, family history of anxiety disorder, financial stress in family and adverse childhood experiences are risk factors for the development of anxiety disorders. If not diagnosed and managed at the earliest, paediatric anxiety disorders can cause life threatening problems in the future. Hence early and scientific management of anxiety disorders is essential. Cognitive behavioural therapy is the effective evidence based treatment for paediatric anxiety disorders.

  20. Social anxiety disorder

    Science.gov (United States)

    Phobia - social; Anxiety disorder - social; Social phobia; SAD - social anxiety disorder ... People with social anxiety disorder fear and avoid situations in which they may be judged by others. It may begin in ...

  1. Carbohydrate Metabolism Disorders

    Science.gov (United States)

    ... metabolic disorder, something goes wrong with this process. Carbohydrate metabolism disorders are a group of metabolic disorders. Normally your enzymes break carbohydrates down into glucose (a type of sugar). If ...

  2. Pituitary Gland Disorders Overview

    Science.gov (United States)

    ... Peer Support Resources Diseases and Conditions Adrenal Disorders Osteoporosis and Bone Health Children and Teen Health Diabetes Heart Health Men's Health Rare Diseases Pituitary Disorders Thyroid Disorders Transgender Health Obesity and Weight Management Women's Health You and Your ...

  3. Chronic motor tic disorder

    Science.gov (United States)

    Chronic vocal tic disorder; Tic - chronic motor tic disorder ... Chronic motor tic disorder is more common than Tourette syndrome . Chronic tics may be forms of Tourette syndrome. Tics usually start ...

  4. Misophonia: A new mental disorder?

    Science.gov (United States)

    Taylor, Steven

    2017-06-01

    Misophonia, a phenomenon first described in the audiology literature, is characterized by intense emotional reactions (e.g., anger, rage, anxiety, disgust) in response to highly specific sounds, particularly sounds of human origin such as oral or nasal noises made by other people (e.g., chewing, sniffing, slurping, lip smacking). Misophonia is not listed in any of the contemporary psychiatric classification systems. Some investigators have argued that misophonia should be regarded as a new mental disorder, falling within the spectrum of obsessive-compulsive related disorders. Other researchers have disputed this claim. The purpose of this article is to critically examine the proposition that misophonia should be classified as a new mental disorder. The clinical and research literature on misophonia was examined and considered in the context of the broader literature on what constitutes a mental disorder. There have been growing concerns that diagnostic systems such as DSM-5 tend to over-pathologize ordinary quirks and eccentricities. Accordingly, solid evidence is required for proposing a new psychiatric disorder. The available evidence suggests that (a) misophonia meets many of the general criteria for a mental disorder and has some evidence of clinical utility as a diagnostic construct, but (b) the nature and boundaries of the syndrome are unclear; for example, in some cases misophonia might be simply one feature of a broader pattern of sensory intolerance, and (c) considerably more research is required, particularly work concerning diagnostic validity, before misophonia, defined as either as a disorder or as a key feature of some broader syndrome of sensory intolerance, should be considered as a diagnostic construct in the psychiatric nomenclature. A research roadmap is proposed for the systematic evaluation as to whether misophonia should be considered for future editions of DSM or ICD. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. Swallowing Disorders in Schizophrenia.

    Science.gov (United States)

    Kulkarni, Deepika P; Kamath, Vandan D; Stewart, Jonathan T

    2017-08-01

    Disorders of swallowing are poorly characterized but quite common in schizophrenia. They are a source of considerable morbidity and mortality in this population, generally as a result of either acute asphyxia from airway obstruction or more insidious aspiration and pneumonia. The death rate from acute asphyxia may be as high as one hundred times that of the general population. Most swallowing disorders in schizophrenia seem to fall into one of two categories, changes in eating and swallowing due to the illness itself and changes related to psychotropic medications. Behavioral changes related to the illness are poorly understood and often involve eating too quickly or taking inappropriately large boluses of food. Iatrogenic problems are mostly related to drug-induced extrapyramidal side effects, including drug-induced parkinsonism, dystonia, and tardive dyskinesia, but may also include xerostomia, sialorrhea, and changes related to sedation. This paper will provide an overview of common swallowing problems encountered in patients with schizophrenia, their pathophysiology, and management. While there is a scarcity of quality evidence in the literature, a thorough history and examination will generally elucidate the predominant problem or problems, often leading to effective management strategies.

  6. Autism Spectrum Disorder: Primary Care Principles.

    Science.gov (United States)

    Sanchack, Kristian E; Thomas, Craig A

    2016-12-15

    Autism spectrum disorder is characterized by difficulty with social communication and restricted, repetitive patterns of behavior, interest, or activities. The Diagnostic and Statistical Manual of Mental Disorders, 5th ed., created an umbrella diagnosis that includes several previously separate conditions: autistic disorder, Asperger syndrome, childhood disintegrative disorder, and pervasive developmental disorder not otherwise specified. There is insufficient evidence to recommend screening for autism spectrum disorder in children 18 to 30 months of age in whom the disorder is not suspected; however, there is a growing body of evidence that early intensive behavioral intervention based on applied behavior analysis improves cognitive ability, language, and adaptive skills. Therefore, early identification of autism spectrum disorder is important, and experts recommend the use of a validated screening tool at 18- and 24-month well-child visits. Medications can be used as adjunctive treatment for maladaptive behaviors and comorbid psychiatric conditions, but there is no single medical therapy that is effective for all symptoms of autism spectrum disorder. Prognosis is heavily affected by the severity of diagnosis and the presence of intellectual disability. Children with optimal outcomes receive earlier, more intensive behavioral interventions and less pharmacologic treatment.

  7. Eating disorder symptoms in affective disorder.

    OpenAIRE

    Wold, P N

    1991-01-01

    Patients with Major Affective Disorder (MAD), Secondary Depression, Panic Disorder, and bulimia with and without MAD, were given the Eating Disorder Inventory, the Beck Depression Inventory, and the General Behavior Inventory at presentation. It was found that patients with MAD have a triad of eating disorder symptoms: a disturbance in interoceptive awareness, the sense of ineffectiveness, and a tendency toward bulimia. The data supported the concept that the sense of ineffectiveness is secon...

  8. ACE: Health - Neurodevelopmental Disorders

    Science.gov (United States)

    Information about children reported to have ever been diagnosed with four different neurodevelopmental disorders: attention-deficit/hyperactivity disorder (ADHD), learning disabilities, autism, and intellectual disability.

  9. Autism Spectrum Disorders (Pervasive Developmental Disorders)

    Science.gov (United States)

    Strock, Margaret

    2007-01-01

    This booklet focuses on classic autism, pervasive developmental disorder not otherwise specified (PDD-NOS), and Asperger syndrome, with brief descriptions of Rett syndrome and childhood disintegrative disorder. The booklet describes possible indicators of autism spectrum disorders (ASD), their diagnosis, available aids, treatment options, adults…

  10. Complex single gene disorders and epilepsy.

    LENUS (Irish Health Repository)

    Merwick, Aine

    2012-09-01

    Epilepsy is a heterogeneous group of disorders, often associated with significant comorbidity, such as intellectual disability and skin disorder. The genetic underpinnings of many epilepsies are still being elucidated, and we expect further advances over the coming 5 years, as genetic technology improves and prices fall for whole exome and whole genome sequencing. At present, there are several well-characterized complex epilepsies associated with single gene disorders; we review some of these here. They include well-recognized syndromes such as tuberous sclerosis complex, epilepsy associated with Rett syndrome, some of the progressive myoclonic epilepsies, and novel disorders such as epilepsy associated with mutations in the PCDH 19 gene. These disorders are important in informing genetic testing to confirm a diagnosis and to permit better understanding of the variability in phenotype-genotype correlation.

  11. Hoarding Disorder Trough Three Case, A New Mental Disorder in DSM-5

    Directory of Open Access Journals (Sweden)

    Süheyla DODAN BULUT

    2014-03-01

    Full Text Available Compulsive hoarding is a problem characterized with excessive collection and accumulation, failure to discard the excess amount of collected items. Although it is considered to be a symptom of obsessive-compulsive disorder in DSMIV- TR (Diagnostic and statistical manual of mental disorders fourth edition text revision, it is thought that compulsive hoarding and OCD may have different biological, cognitive and behavioral mechanisms and compulsive hoarding may be associated with many other psychological illnesses. For these reasons, in DSM-5 (Diagnostic and statistical manual of mental disorders fifth edition hoarding disorder diagnosis is located under the classification of obsessive-compulsive and related disorders. In this case report, three cases classified in different diagnostic categories according to DSM-IV-TR will be mentioned and hoarding disorder will be discussed.

  12. Premenstrual Dysphoric Disorder: Epidemiology and Treatment.

    Science.gov (United States)

    Hantsoo, Liisa; Epperson, C Neill

    2015-11-01

    Recently designated as a disorder in the DSM-5, premenstrual dysphoric disorder (PMDD) presents an array of avenues for further research. PMDD's profile, characterized by cognitive-affective symptoms during the premenstruum, is unique from that of other affective disorders in its symptoms and cyclicity. Neurosteroids may be a key contributor to PMDD's clinical presentation and etiology, and represent a potential avenue for drug development. This review will present recent literature on potential contributors to PMDD's pathophysiology, including neurosteroids and stress, and explore potential treatment targets.

  13. DISORDERS OF ACID-BASE STATE

    Directory of Open Access Journals (Sweden)

    P. F. Litvitskiy

    2011-01-01

    Full Text Available The lecture describes modern data on disorders of acid-base state (ABS: their types, etiology, key stages of pathogenesis, main symptoms, and principles of treatment. The first part of the lecture in present journal characterizes main conception, parameters of ABS in normal state, buffer systems, common mechanisms of BS shifts elimination, etiology and pathogenesis of gas-induced (respiratory disorders of ABS. The second part of the lecture in following journal will describe not gas-induced (metabolic, excretory and exogenous disorders of ABS and principles of their treatment.

  14. Clinical characteristics and treatment outcomes of patients with major depressive disorder and comorbid anxiety disorders - results from a European multicenter study.

    Science.gov (United States)

    Dold, Markus; Bartova, Lucie; Souery, Daniel; Mendlewicz, Julien; Serretti, Alessandro; Porcelli, Stefano; Zohar, Joseph; Montgomery, Stuart; Kasper, Siegfried

    2017-08-01

    This naturalistic European multicenter study aimed to elucidate the association between major depressive disorder (MDD) and comorbid anxiety disorders. Demographic and clinical information of 1346 MDD patients were compared between those with and without concurrent anxiety disorders. The association between explanatory variables and the presence of comorbid anxiety disorders was examined using binary logistic regression analyses. 286 (21.2%) of the participants exhibited comorbid anxiety disorders, 10.8% generalized anxiety disorder (GAD), 8.3% panic disorder, 8.1% agoraphobia, and 3.3% social phobia. MDD patients with comorbid anxiety disorders were characterized by younger age (social phobia), outpatient status (agoraphobia), suicide risk (any anxiety disorder, panic disorder, agoraphobia, social phobia), higher depressive symptom severity (GAD), polypsychopharmacy (panic disorder, agoraphobia), and a higher proportion receiving augmentation treatment with benzodiazepines (any anxiety disorder, GAD, panic disorder, agoraphobia, social phobia) and pregabalin (any anxiety disorder, GAD, panic disorder). The results in terms of treatment response were conflicting (better response for panic disorder and poorer for GAD). The logistic regression analyses revealed younger age (any anxiety disorder, social phobia), outpatient status (agoraphobia), suicide risk (agoraphobia), severe depressive symptoms (any anxiety disorder, GAD, social phobia), poorer treatment response (GAD), and increased administration of benzodiazepines (any anxiety disorder, agoraphobia, social phobia) and pregabalin (any anxiety disorder, GAD, panic disorder) to be associated with comorbid anxiety disorders. Our findings suggest that the various anxiety disorders subtypes display divergent clinical characteristics and are associated with different variables. Especially comorbid GAD appears to be characterized by high symptom severity and poor treatment response. Copyright © 2017 Elsevier Ltd. All

  15. Personality disorder symptomatology and neuropsychological functioning in closed head injury.

    Science.gov (United States)

    Ruocco, Anthony C; Swirsky-Sacchetti, Thomas

    2007-01-01

    Despite an emerging literature characterizing the neuropsychological profiles of borderline, antisocial, and schizotypal personality disorders, relations between personality disorder traits and neurocognitive domains remain unknown. The authors examined associations among Millon Clinical Multiaxial Inventory-III personality disorder scales and eight neuropsychological domains in 161 patients referred for neuropsychological evaluation following closed head injury. Most personality disorder scales were associated with some decrement in cognitive function, particularly speeded processing, executive function, and language, while histrionic and narcissistic scales had positive relations with neuropsychological functioning. Results suggest that many personality disorder traits are related to neurocognitive function, particularly those functions subserved by frontal and temporal regions.

  16. Comorbidity of bipolar disorder and eating disorders.

    Science.gov (United States)

    Álvarez Ruiz, Eva M; Gutiérrez-Rojas, Luis

    2015-01-01

    The comorbidity of bipolar disorder and eating disorders has not been studied in depth. In addition, clinical implications involved in the appearance of both disorders are very important. A systematic literature review of MEDLINE published up to September 2013 was performed, analyzing all the articles that studied the comorbidity of both conditions (bipolar disorder and eating disorders) and others research that studied the efficacy of pharmacological treatment and psychotherapy to improve these illnesses. In this review we found a high comorbidity of bipolar disorder and eating disorders, especially of bulimia nervosa and binge eating disorder. Studies show that lithium and topiramate are 2 of the more effective pharmacological agents in the treatment of both disorders. There are a lot of studies that show evidence of comorbidity of bipolar disorder and eating disorders. However, further research is needed on assessment and treatment when these conditions co-exist, as well as study into the biopsychological aspects to determine the comorbid aetiology. Copyright © 2014 SEP y SEPB. Published by Elsevier España. All rights reserved.

  17. Gastrointestinal Eosinofilic Disorders

    International Nuclear Information System (INIS)

    Rodriguez Maria, Roberto; Bohorquez, Maria Amalia; Gonzalez, Irene; Torregroza, Gustavo

    2007-01-01

    The gastrointestinal eosinofilic disorders are little frequent diseases, of etiopatogenia little clear, that are characterized by the presence of an infiltrated eosinofilo that can affect the different layers of the wall of the alimentary canal in absence of known causes of eosinofilia. The clinical manifestations are variable and the symptoms are conditioned by the degree of eosinofilia of the wall, the number of layers affected and the segment of the gastrointestinal tract implied. The presentations symptoms vary from diarrhea, vomits, abdominal pain and loss of weigh until the acute intestinal obstruction. They are characterized to present peripherical eosinofilia, although it is not a forced criterion. Its definite diagnosis is anatomopatologic. The steroid use is considered as the angular stone of the treatment. We present two cases, with different clinical presentation forms, with initial answer to steroids and later relapse after the suspension of these, remaining without symptoms actually with dependency of low doses of steroids. Next we will do the revision of the available literature emphasizing the pathophysiologic data, the clinical evaluation and the therapeutic aspects

  18. Vaginal disorders.

    Science.gov (United States)

    Soderberg, S F

    1986-05-01

    Chronic vaginitis is the most common vaginal disorder. Dogs with vaginitis show no signs of systemic illness but often lick at the vulva and have purulent or hemorrhagic vaginal discharges. Vaginitis is most commonly secondary to a noninfectious inciting factor such as congenital vaginal anomalies, clitoral hypertrophy, foreign bodies, trauma to the vaginal mucosa, or vaginal tumors. Inspection of the caudal vagina and vestibule both visually and digitally will often reveal the source of vaginal irritation. Vaginal cytology is used to establish the stage of the estrous cycle as well as distinguish uterine from vaginal sources of discharge. Vaginal cultures are used to establish the predominant offending organism associated with vaginal discharges and may be used as a guide for selection of a therapeutic agent. Vaginitis is best managed by removing the inciting cause and treating the area locally with antiseptic douches. Congenital malformations at the vestibulovaginal or vestibulovulvar junction may prevent normal intromission. Affected bitches may be reluctant to breed naturally because of pain. Such defects are detected best by digital examination. Congenital vaginal defects may be corrected by digital or surgical means. Prolapse of tissue through the lips of the vulva may be caused by clitoral hypertrophy, vaginal hyperplasia, or vaginal tumors. Enlargement of clitoral tissue is the result of endogenous or exogenous sources of androgens. Treatment of this condition includes removal of the androgen source and/or surgical removal of clitoral tissue. Vaginal hyperplasia is detected during proestrus or estrus of young bitches. Hyperplastic tissue will regress during diestrus. Tissue that is excessively traumatized and/or prolapse of the entire vaginal circumference may be removed surgically. Ovariohysterectomy may be used to prevent recurrence. Vaginal tumors are detected most often in older intact bitches. Such tumors are generally of smooth muscle or fibrous

  19. Conduct Disorder and Comorbidity.

    Science.gov (United States)

    Stahl, Nicole D.; Clarizio, Harvey F.

    1999-01-01

    Provides critical examination of research published during past ten years addressing Conduct Disorder (CD), Attention Deficit Hyperactivity Disorder, Oppositional Defiant Disorder (ODD), and internalizing disorders. Concludes comorbidity varies with age, gender, informant, diagnostic criteria, and nature of the sample. Implications of comorbidity…

  20. A review of compulsive buying disorder.

    Science.gov (United States)

    Black, Donald W

    2007-02-01

    Compulsive buying disorder (CBD) is characterized by excessive shopping cognitions and buying behavior that leads to distress or impairment. Found worldwide, the disorder has a lifetime prevalence of 5.8% in the US general population. Most subjects studied clinically are women (~80%), though this gender difference may be artifactual. Subjects with CBD report a preoccupation with shopping, prepurchase tension or anxiety, and a sense of relief following the purchase. CBD is associated with significant psychiatric comorbidity, particularly mood and anxiety disorders, substance use disorders, eating disorders, and other disorders of impulse control. The majority of persons with CBD appear to meet criteria for an Axis II disorder, although there is no special "shopping" personality. Compulsive shopping tends to run in families, and these families are filled with mood and substance use disorders. There are no standard treatments. Psychopharmacologic treatment studies are being actively pursued, and group cognitive-behavioral models have been developed and are promising. Debtors Anonymous, simplicity circles, bibliotherapy, financial counseling, and marital therapy may also play a role in the management of CBD.

  1. Adult onset tic disorders

    OpenAIRE

    Chouinard, S.; Ford, B.

    2000-01-01

    BACKGROUND—Tic disorders presenting during adulthood have infrequently been described in the medical literature. Most reports depict adult onset secondary tic disorders caused by trauma, encephalitis, and other acquired conditions. Only rare reports describe idiopathic adult onset tic disorders, and most of these cases represent recurrent childhood tic disorders.
OBJECTIVE—To describe a large series of patients with tic disorders presenting during adulthood, to compare cl...

  2. BIPOLAR DISORDER: A REVIEW

    OpenAIRE

    Pathan Dilnawaz N; Ziyaurrahaman A.R; Bhise K.S.

    2010-01-01

    Bipolar disorder (BD) is a severe psychiatric disorder that results in poor global functioning, reduced quality of life and high relapse rates. Research finds that many adults with bipolar disorder identify the onset of symptoms in childhood and adolescence, indicating the importance of early accurate diagnosis and treatment. Accurate diagnosis of mood disorders is critical for treatment to be effective. Distinguishing between major depression and bipolar disorders, especially the depressed p...

  3. Dansk standardisering af attention deficit/hyperactivity disorder-ratingskalaen

    DEFF Research Database (Denmark)

    Poulsen, Lotte; Jørgensen, Siv Lykke; Dalsgaard, Søren

    2009-01-01

    INTRODUCTION: Attention deficit hyperactivity disorder (ADHD) is characterized by inattention, hyperactivity and impulsivity. The diagnostic classification is based on developmental anamnesis, objective examination, neuropsychological tests, observation of the child, and evaluation of the symptoms...

  4. The dynamic multisite interactions between two intrinsically disordered proteins

    KAUST Repository

    Wu, Shaowen; Wang, Dongdong; Liu, Jin; Feng, Yitao; Weng, Jingwei; Li, Yu; Gao, Xin; Liu, Jianwei; Wang, Wenning

    2017-01-01

    Protein interactions involving intrinsically disordered proteins (IDPs) comprise a variety of binding modes, from the well characterized folding upon binding to dynamic fuzzy complex. To date, most studies concern the binding of an IDP to a

  5. Nutritional supplements in eating disorders.

    Science.gov (United States)

    Díaz-Marsá, Marina; Alberdi-Páramo, Iñigo; Niell-Galmés, Lluis

    2017-09-01

    Eating disorders (EDs) are a series of differentiated nosological entities sharing the common link of a continuous alteration in food intake or in food intake-related behavior. Within this classification, the following disorders are noteworthy: anorexia nerviosa (AN) and bulimia nerviosa (BN). Anorexia nervosa is a chronic disorder characterized mainly by negative or decreased food intake accompanied by a distortion of body image and intense accompanying fear of weight gain. The estimated vital prevalence of this disorder in adolescence is approximately 0.5%-1%.1 The primary feature of BN is the presence of binge eating accompanied by compensatory behavior (in the form of intense exercise and the use of laxatives and diuretics, etc.). The prevalence of BN is estimated to be between 2% and 4% in young women, and it generally starts at somewhat later stages than AN. It is believed that biological, psychological, and environmental factors, as well as genetic vulnerability, influence the pathogenesis of EDs. A variety of therapies exist, both biological and psychological, whose effectiveness is supported by the scientific literature. Nonetheless, we find these therapies only partially effective and new targets as well as new treatments should be sought. Although the etiopathogenesis of EDs is unclear, some of the neurobiological dysfunction found suggests that diet and nutrient supplementation could be relevant in their treatment. We review in this article new treatments focusing on nutritional deficits.

  6. Drug development for neurodevelopmental disorders

    DEFF Research Database (Denmark)

    Berry-Kravis, Elizabeth M; Lindemann, Lothar; Jønch, Aia E

    2018-01-01

    Neurodevelopmental disorders such as fragile X syndrome (FXS) result in lifelong cognitive and behavioural deficits and represent a major public health burden. FXS is the most frequent monogenic form of intellectual disability and autism, and the underlying pathophysiology linked to its causal ge......, FMR1, has been the focus of intense research. Key alterations in synaptic function thought to underlie this neurodevelopmental disorder have been characterized and rescued in animal models of FXS using genetic and pharmacological approaches. These robust preclinical findings have led...... to the implementation of the most comprehensive drug development programme undertaken thus far for a genetically defined neurodevelopmental disorder, including phase IIb trials of metabotropic glutamate receptor 5 (mGluR5) antagonists and a phase III trial of a GABAB receptor agonist. However, none of the trials has...... been able to unambiguously demonstrate efficacy, and they have also highlighted the extent of the knowledge gaps in drug development for FXS and other neurodevelopmental disorders. In this Review, we examine potential issues in the previous studies and future directions for preclinical and clinical...

  7. Scaling theory of quantum resistance distributions in disordered systems

    International Nuclear Information System (INIS)

    Jayannavar, A.M.

    1990-05-01

    We have derived explicitly, the large scale distribution of quantum Ohmic resistance of a disordered one-dimensional conductor. We show that in the thermodynamic limit this distribution is characterized by two independent parameters for strong disorder, leading to a two-parameter scaling theory of localization. Only in the limit of weak disorder we recover single parameter scaling, consistent with existing theoretical treatments. (author). 32 refs, 4 figs

  8. The origins and consequences of attention deficit hyperactivity disorder

    OpenAIRE

    Chang, Zheng

    2013-01-01

    Attention deficit hyperactivity disorder (ADHD) is characterized by developmentally inappropriate levels of inattention, hyperactivity, and impulsivity, and is the most common neurodevelopmental disorder of childhood. This highly prevalent disorder is estimated to affect about 5% of school-age children worldwide, with a substantial degree of persistence over time. Although the specific cause of ADHD is still largely unknown, despite a long history of research, it is believed to involve multip...

  9. Early Maladaptive Schemas in the Patients with Somatoform Disorders

    OpenAIRE

    Ýsmet Kýrpýnar; Erdem Deveci; Demet Zihni Çamur; Alperen Kýlýç

    2014-01-01

    Objective: Somatoform disorders are characterized by physical symptoms that suggest a medical condition but that are not fully explained by a medical condition. A number of studies have suggested the efficacy of cognitive behavioral therapy for somatoform disorders. But, while it is clear that somatoform disorders are closely related to a number of cognitive factors, the precise nature of these relationships have not been elucidated yet. The aim of the present study was to determine the relat...

  10. Apps and eating disorders: A systematic clinical appraisal

    OpenAIRE

    Fairburn, Christopher G.; Rothwell, Emily R.

    2015-01-01

    ABSTRACT Objective Smartphone applications (apps) are proliferating and health?related apps are particularly popular. The aim of this study was to identify, characterize, and evaluate the clinical utility of apps designed either for people with eating disorders or for eating disorder professionals. Method A search of the major app stores identified 805 potentially relevant apps, of which 39 were primarily designed for people with eating disorders and five for professionals. Results The apps f...

  11. Bioinformatics analysis of disordered proteins in prokaryotes

    Directory of Open Access Journals (Sweden)

    Malkov Saša N

    2011-03-01

    Full Text Available Abstract Background A significant number of proteins have been shown to be intrinsically disordered, meaning that they lack a fixed 3 D structure or contain regions that do not posses a well defined 3 D structure. It has also been proven that a protein's disorder content is related to its function. We have performed an exhaustive analysis and comparison of the disorder content of proteins from prokaryotic organisms (i.e., superkingdoms Archaea and Bacteria with respect to functional categories they belong to, i.e., Clusters of Orthologous Groups of proteins (COGs and groups of COGs-Cellular processes (Cp, Information storage and processing (Isp, Metabolism (Me and Poorly characterized (Pc. We also analyzed the disorder content of proteins with respect to various genomic, metabolic and ecological characteristics of the organism they belong to. We used correlations and association rule mining in order to identify the most confident associations between specific modalities of the characteristics considered and disorder content. Results Bacteria are shown to have a somewhat higher level of protein disorder than archaea, except for proteins in the Me functional group. It is demonstrated that the Isp and Cp functional groups in particular (L-repair function and N-cell motility and secretion COGs of proteins in specific possess the highest disorder content, while Me proteins, in general, posses the lowest. Disorder fractions have been confirmed to have the lowest level for the so-called order-promoting amino acids and the highest level for the so-called disorder promoters. For each pair of organism characteristics, specific modalities are identified with the maximum disorder proteins in the corresponding organisms, e.g., high genome size-high GC content organisms, facultative anaerobic-low GC content organisms, aerobic-high genome size organisms, etc. Maximum disorder in archaea is observed for high GC content-low genome size organisms, high GC content

  12. Autism Spectrum Symptoms in a Tourette's Disorder Sample

    NARCIS (Netherlands)

    Darrow, Sabrina M.; Grados, Marco; Sandor, Paul; Hirschtritt, Matthew E.; Illmann, Cornelia; Osiecki, Lisa; Dion, Yves; King, Robert; Pauls, David; Budman, Cathy L.; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J.; McMahon, William M.; Lee, Paul C.; Delucchi, Kevin L.; Scharf, Jeremiah M.; Mathews, Carol A.

    Objective: Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD,

  13. Genetics Home Reference: FOXP2-related speech and language disorder

    Science.gov (United States)

    ... skills such as walking and tying shoelaces, and autism spectrum disorders, which are conditions characterized by impaired communication and social interaction. Related Information What does it mean if a disorder seems to run in my family? What is the prognosis of a genetic condition? ...

  14. [Minimal emotional dysfunction and first impression formation in personality disorders].

    Science.gov (United States)

    Linden, M; Vilain, M

    2011-01-01

    "Minimal cerebral dysfunctions" are isolated impairments of basic mental functions, which are elements of complex functions like speech. The best described are cognitive dysfunctions such as reading and writing problems, dyscalculia, attention deficits, but also motor dysfunctions such as problems with articulation, hyperactivity or impulsivity. Personality disorders can be characterized by isolated emotional dysfunctions in relation to emotional adequacy, intensity and responsivity. For example, paranoid personality disorders can be characterized by continuous and inadequate distrust, as a disorder of emotional adequacy. Schizoid personality disorders can be characterized by low expressive emotionality, as a disorder of effect intensity, or dissocial personality disorders can be characterized by emotional non-responsivity. Minimal emotional dysfunctions cause interactional misunderstandings because of the psychology of "first impression formation". Studies have shown that in 100 ms persons build up complex and lasting emotional judgements about other persons. Therefore, minimal emotional dysfunctions result in interactional problems and adjustment disorders and in corresponding cognitive schemata.From the concept of minimal emotional dysfunctions specific psychotherapeutic interventions in respect to the patient-therapist relationship, the diagnostic process, the clarification of emotions and reality testing, and especially an understanding of personality disorders as impairment and "selection, optimization, and compensation" as a way of coping can be derived.

  15. What Rhinoplasty Surgeons Should Know about Body Dysmorphic Disorder (BDD)

    NARCIS (Netherlands)

    Reichert, M.; Scheithauer, M.; Hoffmann, T. K.; Hellings, P.; Picavet, V.

    2014-01-01

    Body dysmorphic disorder (BDD) is a psychiatric disorder characterized by an excessive concern with a non-existing or slight defect in physical appearance. BDD patients frequently show impaired judgment regarding the psychiatric origin of their concerns and often seek aesthetic treatment to resolve

  16. Autism Spectrum Symptoms in a Tourette's Disorder Sample

    NARCIS (Netherlands)

    Darrow, Sabrina M; Grados, Marco A; Sandor, Paul; Hirschtritt, Matthew E; Illmann, Cornelia; Osiecki, Lisa; Dion, Yves; King, Robert A; Pauls, David L; Budman, Cathy L; Cath, Danielle C.; Greenberg, Erica; Lyon, Gholson J; McMahon, William M; Lee, Paul C; Delucchi, Kevin L; Scharf, Jeremiah M; Mathews, Carol A

    2017-01-01

    Objective Tourette's disorder (TD) and autism spectrum disorder (ASD) share clinical features and possibly an overlapping etiology. The aims of this study were to examine ASD symptom rates in participants with TD, and to characterize the relationships between ASD symptom patterns and TD,

  17. Environmental risk factors for REM sleep behavior disorder

    DEFF Research Database (Denmark)

    Postuma, R B; Montplaisir, J Y; Pelletier, A

    2012-01-01

    Idiopathic REM sleep behavior disorder is a parasomnia characterized by dream enactment and is commonly a prediagnostic sign of parkinsonism and dementia. Since risk factors have not been defined, we initiated a multicenter case-control study to assess environmental and lifestyle risk factors...... for REM sleep behavior disorder....

  18. Neurocognitive psychotherapy for adult attention deficit hyperactive disorder

    OpenAIRE

    Susmita Halder; Akash Kumar Mahato

    2009-01-01

    Previously thought as a childhood disorder, attention-deficit hyperactivity disorder (ADHD) is reported to be spreading at an increasing rate and affecting 4% to 5% of the adult population. It is characterized by persistent problems of inattention, hyperactivity and impulsivity. We present the case of an adult ADHD patient intervened with neurocognitive psychotherapy.

  19. Neurocognitive psychotherapy for adult attention deficit hyperactive disorder

    Directory of Open Access Journals (Sweden)

    Susmita Halder

    2009-01-01

    Full Text Available Previously thought as a childhood disorder, attention-deficit hyperactivity disorder (ADHD is reported to be spreading at an increasing rate and affecting 4% to 5% of the adult population. It is characterized by persistent problems of inattention, hyperactivity and impulsivity. We present the case of an adult ADHD patient intervened with neurocognitive psychotherapy.

  20. Quantifying the use of gestures in Autism Spectrum Disorder

    DEFF Research Database (Denmark)

    Lambrechts, Anna; Yarrow, Kielan; Maras, Katie

    Background: Autism Spectrum Disorder (ASD) is characterized by difficulties in communication and social interaction. In the absence of a biomarker, a diagnosis of Autism Spectrum Disorder (ASD) is reached in settings such as the ADOS (Lord et al., 2000) by observing disturbances of social...

  1. Speech Disorders in Neurofibromatosis Type 1: A Sample Survey

    Science.gov (United States)

    Cosyns, Marjan; Vandeweghe, Lies; Mortier, Geert; Janssens, Sandra; Van Borsel, John

    2010-01-01

    Background: Neurofibromatosis type 1 (NF1) is an autosomal-dominant neurocutaneous disorder with an estimated prevalence of two to three cases per 10 000 population. While the physical characteristics have been well documented, speech disorders have not been fully characterized in NF1 patients. Aims: This study serves as a pilot to identify key…

  2. Anxiety Disorders and the Family: How families affect psychiatric disorders

    OpenAIRE

    Hunsley, John

    1991-01-01

    Family functioning and anxiety disorders, the most prevalent forms of psychiatric disorder, influence one another. The empirical literature on family studies of anxiety disorder (ie, aggregration of disorders within families), on parent-child relationships and anxiety disorders, and on marriage and anxiety disorders is reviewed. Finally, the challenges for patients and their families of post-traumatic stress disorder are discussed.

  3. Comorbidity bipolar disorder and personality disorders.

    Science.gov (United States)

    Latalova, Klara; Prasko, Jan; Kamaradova, Dana; Sedlackova, Jana; Ociskova, Marie

    2013-01-01

    Outcome in bipolar patients can be affected by comorbidity of other psychiatric disorders. Comorbid personality disorders are frequent and may complicate the course of bipolar illness. We have much information about treating patients with uncomplicated bipolar disorder (BD) but much less knowledge about possibilities for patients with the comorbidity of BD and personality disorder. We conducted a series of literature searches using, as key words or as items in indexed fields, bipolar disorder and personality disorder or personality traits. Articles were obtained by searching MEDLINE from 1970 to 2012. In addition, we used other papers cited in articles from these searches, or cited in articles used in our own work. Tests of personality traits indicated that euthymic bipolar patients have higher scores on harm avoidance, reward dependence, and novelty seeking than controls. Elevation of novelty seeking in bipolar patients is associated with substance abuse comorbidity. Comorbidity with personality disorders in BD patients is associated with a more difficult course of illness (such as longer episodes, shorter time euthymic, and earlier age at onset) and an increase in comorbid substance abuse, suicidality and aggression. These problems are particularly pronounced in comorbidity with borderline personality disorder. Comorbidity with antisocial personality disorder elicits a similar spectrum of difficulties; some of the antisocial behavior exhibited by patients with this comorbidity is mediated by increased impulsivity.

  4. Frontal dysfunctions of impulse control – a systematic review in borderline personality disorder and attention deficit hyperactivity disorder

    OpenAIRE

    Alexandra eSebastian; Patrick eJung; Annegret eKrause-Utz; Klaus eLieb; Christian eSchmahl; Oliver eTuescher; Oliver eTuescher

    2014-01-01

    Disorders such as borderline personality disorder (BPD) or attention-deficit/hyperactivity disorder (ADHD) are characterized by impulsive behaviors. Impulsivity as used in clinical terms is very broadly defined and entails different categories including personality traits as well as different cognitive functions such as emotion regulation or interference resolution and impulse control. Impulse control as an executive function, however, is neither cognitively nor neurobehaviorally a unitary fu...

  5. Frontal Dysfunctions of Impulse Control – A Systematic Review in Borderline Personality Disorder and Attention-Deficit/Hyperactivity Disorder

    OpenAIRE

    Sebastian, Alexandra; Jung, Patrick; Krause-Utz, Annegret; Lieb, Klaus; Schmahl, Christian; Tüscher, Oliver

    2014-01-01

    Disorders such as borderline personality disorder (BPD) or attention-deficit/hyperactivity disorder (ADHD) are characterized by impulsive behaviors. Impulsivity as used in clinical terms is very broadly defined and entails different categories including personality traits as well as different cognitive functions such as emotion regulation or interference resolution and impulse control. Impulse control as an executive function, however, is neither cognitively nor neurobehaviorally a unitary fu...

  6. The neurogenetic frontier—lessons from misbehaving zebrafish

    Science.gov (United States)

    Granato, Michael

    2008-01-01

    One of the central questions in neuroscience is how refined patterns of connectivity in the brain generate and monitor behavior. Genetic mutations can influence neural circuits by disrupting differentiation or maintenance of component neuronal cells or by altering functional patterns of nervous system connectivity. Mutagenesis screens therefore have the potential to reveal not only the molecular underpinnings of brain development and function, but to illuminate the cellular basis of behavior. Practical considerations make the zebrafish an organism of choice for undertaking forward genetic analysis of behavior. The powerful array of experimental tools at the disposal of the zebrafish researcher makes it possible to link molecular function to neuronal properties that underlie behavior. This review focuses on specific challenges to isolating and analyzing behavioral mutants in zebrafish. PMID:18836206

  7. The neurogenetic frontier--lessons from misbehaving zebrafish.

    Science.gov (United States)

    Burgess, Harold A; Granato, Michael

    2008-11-01

    One of the central questions in neuroscience is how refined patterns of connectivity in the brain generate and monitor behavior. Genetic mutations can influence neural circuits by disrupting differentiation or maintenance of component neuronal cells or by altering functional patterns of nervous system connectivity. Mutagenesis screens therefore have the potential to reveal not only the molecular underpinnings of brain development and function, but to illuminate the cellular basis of behavior. Practical considerations make the zebrafish an organism of choice for undertaking forward genetic analysis of behavior. The powerful array of experimental tools at the disposal of the zebrafish researcher makes it possible to link molecular function to neuronal properties that underlie behavior. This review focuses on specific challenges to isolating and analyzing behavioral mutants in zebrafish.

  8. The neurogenetic frontier—lessons from misbehaving zebrafish

    OpenAIRE

    Burgess, Harold A.; Granato, Michael

    2008-01-01

    One of the central questions in neuroscience is how refined patterns of connectivity in the brain generate and monitor behavior. Genetic mutations can influence neural circuits by disrupting differentiation or maintenance of component neuronal cells or by altering functional patterns of nervous system connectivity. Mutagenesis screens therefore have the potential to reveal not only the molecular underpinnings of brain development and function, but to illuminate the cellular basis of behavior....

  9. Insights into brain development and disease from neurogenetic ...

    Indian Academy of Sciences (India)

    2014-07-08

    Jul 8, 2014 ... powers of man could have evolved from those of higher animals. From a series of ... neuroanatomical level, the brains and central nervous sys- tems of higher .... Through their proliferative activity, neuroblasts each gen-.

  10. Neurogenetics of female reproductive behaviors in Drosophila melanogaster.

    Science.gov (United States)

    Laturney, Meghan; Billeter, Jean-Christophe

    2014-01-01

    We follow an adult Drosophila melanogaster female through the major reproductive decisions she makes during her lifetime, including habitat selection, precopulatory mate choice, postcopulatory physiological changes, polyandry, and egg-laying site selection. In the process, we review the molecular and neuronal mechanisms allowing females to integrate signals from both environmental and social sources to produce those behavioral outputs. We pay attention to how an understanding of D. melanogaster female reproductive behaviors contributes to a wider understanding of evolutionary processes such as pre- and postcopulatory sexual selection as well as sexual conflict. Within each section, we attempt to connect the theories that pertain to the evolution of female reproductive behaviors with the molecular and neurobiological data that support these theories. We draw attention to the fact that the evolutionary and mechanistic basis of female reproductive behaviors, even in a species as extensively studied as D. melanogaster, remains poorly understood. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Developmental neurogenetics of sexual dimorphism in Aedes aegypti.

    Science.gov (United States)

    Duman-Scheel, Molly; Syed, Zainulabeuddin

    Sexual dimorphism, a poorly understood but crucial aspect of vector mosquito biology, encompasses sex-specific physical, physiological, and behavioral traits related to mosquito reproduction. The study of mosquito sexual dimorphism has largely focused on analysis of the differences between adult female and male mosquitoes, particularly with respect to sex-specific behaviors related to disease transmission. However, sexually dimorphic behaviors are the products of differential gene expression that initiates during development and therefore must also be studied during development. Recent technical advancements are facilitating functional genetic studies in the dengue vector Aedes aegypti, an emerging model for mosquito development. These methodologies, many of which could be extended to other non-model insect species, are facilitating analysis of the development of sexual dimorphism in neural tissues, particularly the olfactory system. These studies are providing insight into the neurodevelopmental genetic basis for sexual dimorphism in vector mosquitoes.

  12. Update on Clinical Features and Brain Abnormalities in Neurogenetics Syndromes

    Science.gov (United States)

    Jackowski, Andrea Parolin; Laureano, Maura Regina; Del'Aquilla, Marco Antonio; de Moura, Luciana Monteiro; Assuncao, Idaiane; Silva, Ivaldo; Schwartzman, Jose Salomao

    2011-01-01

    Neuroimaging methods represent a critical tool in efforts to join the study of the neurobiology of genes with the neurobiology of behaviour, and to understand the neurodevelopmental pathways that give rise to cognitive and behavioural impairments. This article reviews the clinical features and highlights studies with a focus on the relevant…

  13. Clinical neurogenetics: behavioral management of inherited neurodegenerative disease.

    Science.gov (United States)

    Wexler, Eric

    2013-11-01

    Psychiatric symptoms often manifest years before overt neurologic signs in patients with inherited neurodegenerative disease. The most frequently cited example of this phenomenon is the early onset of personality changes in "presymptomatic" Huntington patients. In some cases the changes in mood and cognition are even more debilitating than their neurologic symptoms. The goal of this article is to provide the neurologist with a concise primer that can be applied in a busy clinic or private practice. Copyright © 2013 Elsevier Inc. All rights reserved.

  14. The neurogenetics of group behavior in Drosophila melanogaster.

    Science.gov (United States)

    Ramdya, Pavan; Schneider, Jonathan; Levine, Joel D

    2017-01-01

    Organisms rarely act in isolation. Their decisions and movements are often heavily influenced by direct and indirect interactions with conspecifics. For example, we each represent a single node within a social network of family and friends, and an even larger network of strangers. This group membership can affect our opinions and actions. Similarly, when in a crowd, we often coordinate our movements with others like fish in a school, or birds in a flock. Contributions of the group to individual behaviors are observed across a wide variety of taxa but their biological mechanisms remain largely unknown. With the advent of powerful computational tools as well as the unparalleled genetic accessibility and surprisingly rich social life of Drosophila melanogaster, researchers now have a unique opportunity to investigate molecular and neuronal determinants of group behavior. Conserved mechanisms and/or selective pressures in D. melanogaster can likely inform a much wider phylogenetic scale. Here, we highlight two examples to illustrate how quantitative and genetic tools can be combined to uncover mechanisms of two group behaviors in D. melanogaster: social network formation and collective behavior. Lastly, we discuss future challenges towards a full understanding how coordinated brain activity across many individuals gives rise to the behavioral patterns of animal societies. © 2017. Published by The Company of Biologists Ltd.

  15. A Neurogenetics Approach to Defining Differential Susceptibility to Institutional Care

    Science.gov (United States)

    Brett, Zoe H.; Sheridan, Margaret; Humphreys, Kate; Smyke, Anna; Gleason, Mary Margaret; Fox, Nathan; Zeanah, Charles; Nelson, Charles; Drury, Stacy

    2015-01-01

    An individual's neurodevelopmental and cognitive sequelae to negative early experiences may, in part, be explained by genetic susceptibility. We examined whether extreme differences in the early caregiving environment, defined as exposure to severe psychosocial deprivation associated with institutional care compared to normative rearing,…

  16. Neurogenetics of female reproductive behaviors in Drosophila melanogaster

    NARCIS (Netherlands)

    Laturney, Meghan; Billeter, Jean-Christophe; Friedmann, T; Dunlap, JC; Goodwin, SF

    2014-01-01

    We follow an adult Drosophila melanogaster female through the major reproductive decisions she makes during her lifetime, including habitat selection, precopulatory mate choice, postcopulatory physiological changes, polyandry, and egg-laying site selection. In the process, we review the molecular

  17. Developmental neurogenetics of sexual dimorphism in Aedes aegypti

    Directory of Open Access Journals (Sweden)

    Molly eDuman-Scheel

    2015-06-01

    Full Text Available Sexual dimorphism, a poorly understood but crucial aspect of vector mosquito biology, encompasses sex-specific physical, physiological, and behavioral traits related to mosquito reproduction. The study of mosquito sexual dimorphism has largely focused on analysis of the differences between adult female and male mosquitoes, particularly with respect to sex-specific behaviors related to disease transmission. However, sexually dimorphic behaviors are the products of differential gene expression that initiates during development and therefore must also be studied during development. Recent technical advancements are facilitating functional genetic studies in the dengue vector Aedes aegypti, an emerging model for mosquito development. These methodologies, many of which could be extended to other non-model insect species, are facilitating analysis of the development of sexual dimorphism in neural tissues, particularly the olfactory system. These studies are providing insight into the neurodevelopmental genetic basis for sexual dimorphism in vector mosquitoes.

  18. [Diagnosis and treatment of gender identity disorder].

    Science.gov (United States)

    Yamauchi, Toshio

    2004-02-01

    According to DSM-IV criteria, gender identity disorder(GID) is characterized as follows: 1) Strong, persistent cross-gender identification. 2) Persistent discomfort with one's assigned sex or the Sense of inappropriateness in that gender role. 3) Not due to an intersex condition. In this chapter, symptoms, diagnosis and treatment of GID are briefly described. Possible pathogenesis of GID is also discussed.

  19. Rapid eye movement sleep behavior disorder

    DEFF Research Database (Denmark)

    Zoetmulder, Marielle; Jennum, Poul

    2009-01-01

    Rapid eye movement (REM) sleep behaviour disorder (RBD) is characterized by loss of REM sleep and related electromyographic atonia with marked muscular activity and dream enactment behaviour. RBD is seen in 0.5% of the population. It occurs in an idiopathic form and secondarily to medical...

  20. Substrate reduction therapy of glycosphingolipid storage disorders

    NARCIS (Netherlands)

    Aerts, Johannes M. F. G.; Hollak, Carla E. M.; Boot, Rolf G.; Groener, Johanna E. M.; Maas, Mario

    2006-01-01

    In the last 15 years enormous progress has been made regarding therapy of type I Gaucher disease, a severely disabling disorder characterized by intralysosomal storage of glucosylceramide in tissue macrophages. Effective enzyme replacement therapy of type I Gaucher disease, based on chronic

  1. Informant Disagreement for Separation Anxiety Disorder

    Science.gov (United States)

    Foley, Debra; Rutter, Michael; Pickles, Andrew; Angold, Adrian; Maes, Hermine; Silberg, Judy; Eaves, Lindon

    2004-01-01

    Objective: To characterize informant disagreement for separation anxiety disorder (SAD). Method: The sample comprised 2,779 8- to 17-year-old twins from a community-based registry. Children and their parents completed a personal interview about the child's psychiatric history. Parents completed a personal interview about their own psychiatric…

  2. Olfactory dysfunction in neuromyelitis optica spectrum disorders

    NARCIS (Netherlands)

    Zhang, L.J.; Zhao, N.; Fu, Y.; Zhang, D.Q.; Wang, J.; Qin, W.; Zhang, N.N.N.; Wood, K.; Liu, Y.; Yu, C.S.; Shi, F.D.; Yang, L.

    2015-01-01

    Few data were available for the understanding of olfactory function in neuromyelitis optica spectrum disorders (NMOSDs). The aims of our study were to investigate the incidence of olfactory dysfunction and characterize olfactory structures, using MRI, in patients with NMOSDs. Olfactory function was

  3. White matter abnormalities in skin picking disorder

    DEFF Research Database (Denmark)

    Grant, Jon E; Odlaug, Brian Lawrence; Hampshire, Adam

    2013-01-01

    Skin picking disorder (SPD) is characterized by the repetitive and compulsive picking of skin, resulting in tissue damage. Neurocognitive findings in SPD implicate difficulty with response inhibition (suppression of pre-potent motor responses). This function is dependent on the integrity of the r......Skin picking disorder (SPD) is characterized by the repetitive and compulsive picking of skin, resulting in tissue damage. Neurocognitive findings in SPD implicate difficulty with response inhibition (suppression of pre-potent motor responses). This function is dependent on the integrity...... remarkably similar to those previously reported in trichotillomania. This study adds considerable support to the notion that-in addition to the phenomenological and comorbid overlap between SPD and trichotillomania-these disorders likely share overlapping neurobiology....

  4. The psychosomatic disorders pertaining to dental practice with revised working type classification.

    Science.gov (United States)

    Shamim, Thorakkal

    2014-01-01

    Psychosomatic disorders are defined as disorders characterized by physiological changes that originate partially from emotional factors. This article aims to discuss the psychosomatic disorders of the oral cavity with a revised working type classification. The author has added one more subset to the existing classification, i.e., disorders caused by altered perception of dentofacial form and function, which include body dysmorphic disorder. The author has also inserted delusional halitosis under the miscellaneous disorders classification of psychosomatic disorders and revised the already existing classification proposed for the psychosomatic disorders pertaining to dental practice. After the inclusion of the subset (disorders caused by altered perception of dentofacial form and function), the terminology "psychosomatic disorders of the oral cavity" is modified to "psychosomatic disorders pertaining to dental practice".

  5. "Complex" Posttraumatic Stress Disorder/Disorders of Extreme Stress (CP/DES) in Sexually Abused Children: An Exloratory Study.

    Science.gov (United States)

    Hall, Darlene Kordich

    1999-01-01

    Compares three groups of young sexually abused children on seven "Complex" Posttraumatic Stress Disorder/Disorders of Extreme Stress (CP/DES) indices. As cumulative number of types of trauma increased, the number of CP/DES symptoms rose. Results suggest that CP/DES also characterizes sexually abused children, especially those who have…

  6. Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia

    NARCIS (Netherlands)

    Witt, S.H.; Streit, F.; Jungkunz, M; Frank, J.; Awasthi, S; Reinbold, C S; Treutlein, J.; Degenhardt, F.; Forstner, A. J.; Heilmann-Heimbach, S.; Dietl, L; Schwarze, C E; Schendel, D.J.; Strohmaier, J.; Abdellaoui, A; Adolfsson, R; Air, T M; Akil, H.; Lopezz de Alda, M.; Alliey-Rodriguez, N; Andreassen, O. A.; Babadjanova, G; Bass, N.J.; Bauer, M.; Baune, Bernard T; Bellivier, F.; Bergen, S. E.; Bethell, A.; Biernacka, J.M.; Blackwood, D H R; Boks, Marco P; Boomsma, D I; Børglum, Anders D; Borrmann-Hassenbach, M; Brennan, P.; Budde, M.; Buttenschøn, H N; Byrne, Enda M; Cervantes, P; Clarke, T.K.; Craddock, N.; Cruceanu, C; Curtis, D.; de Geus, E J C; Fischer, S B; Hottenga, J-J; Middeldorp, C M; Milaneschi, Y; Penninx, B W J H; Willemsen, G

    2017-01-01

    Borderline personality disorder (BOR) is determined by environmental and genetic factors, and characterized by affective instability and impulsivity, diagnostic symptoms also observed in manic phases of bipolar disorder (BIP). Up to 20% of BIP patients show comorbidity with BOR. This report

  7. Bipolar disorder in adolescence.

    Science.gov (United States)

    DeFilippis, Melissa; Wagner, Karen Dineen

    2013-08-01

    Bipolar disorder is a serious psychiatric condition that may have onset in childhood. It is important for physicians to recognize the symptoms of bipolar disorder in children and adolescents in order to accurately diagnose this illness early in its course. Evidence regarding the efficacy of various treatments is necessary to guide the management of bipolar disorder in youth. For example, several medications commonly used for adults with bipolar disorder have not shown efficacy for children and adolescents with bipolar disorder. This article reviews the prevalence, diagnosis, course, and treatment of bipolar disorder in children and adolescents and provides physicians with information that will aid in diagnosis and treatment.

  8. Body-focused repetitive behavior disorders in ICD-11

    Directory of Open Access Journals (Sweden)

    Jon E. Grant

    2014-01-01

    Full Text Available This article addresses the question of how body-focused repetitive behavior disorders (e.g., trichotillomania and skin-picking disorder should be characterized in ICD-11. The article reviews the historical nosology of the two disorders and the current approaches in DSM-5 and ICD-10. Although data are limited and mixed regarding the optimal relationship between body-focused repetitive behavior disorders and nosological categories, these conditions should be included within the obsessive-compulsive and related disorders category, as this is how most clinicians see these behaviors, and as this may optimize clinical utility. The descriptions of these disorders should largely mirror those in DSM-5, given the evidence from recent field surveys. The recommendations regarding ICD-11 and body-focused repetitive behavior disorders should promote the global identification and treatment of these conditions in primary care settings.

  9. Body Dysmorphic Disorder in Patients Presenting for Cosmetic Treatment

    Directory of Open Access Journals (Sweden)

    Ebru Altintas

    2015-09-01

    Full Text Available Body dysmorphic disorder is an obsessive-compulsive related psychiatric disorder characterized by excessive preoccupation about an imagined or slight defect in appearance. Preoccupation of the appearance with the skin, hair and nose are most common. Impairment of the quality of life, comorbidity of the psychiatric and personality disorder are related with body dysmorphic disorder. Nowadays, cosmetic procedure has become increasingly popular especially among women. The prevalence of body dysmorphic disorder among patients seeking cosmetic treatment in surgery or dermatology clinics is higher than general population. As postoperatively some patients dissatisfied with the surgery, dermatologists and surgeons should be informed about body dysmorphic disorder. This aim of this review was to assess prevalance, clinical features, motivational factors of patients with body dysmorphic disorder presenting for cosmetic medical treatments. [Archives Medical Review Journal 2015; 24(3.000: 324-338

  10. International Society for Bipolar Disorders Task Force on Suicide

    DEFF Research Database (Denmark)

    Schaffer, Ayal; Isometsä, Erkki T; Tondo, Leonardo

    2015-01-01

    significantly associated with suicide attempts were: female gender, younger age at illness onset, depressive polarity of first illness episode, depressive polarity of current or most recent episode, comorbid anxiety disorder, any comorbid substance use disorder, alcohol use disorder, any illicit substance use......OBJECTIVES: Bipolar disorder is associated with a high risk of suicide attempts and suicide death. The main objective of the present study was to identify and quantify the demographic and clinical correlates of attempted and completed suicide in people with bipolar disorder. METHODS: Within...... the framework of the International Society for Bipolar Disorders Task Force on Suicide, a systematic review of articles published since 1980, characterized by the key terms bipolar disorder and 'suicide attempts' or 'suicide', was conducted, and data extracted for analysis from all eligible articles...

  11. The Natural History of Antisocial Personality Disorder.

    Science.gov (United States)

    Black, Donald W

    2015-07-01

    Antisocial personality disorder (ASPD) is characterized by a pattern of socially irresponsible, exploitative, and guiltless behaviour. ASPD is associated with co-occurring mental health and addictive disorders and medical comorbidity. Rates of natural and unnatural death (suicide, homicide, and accidents) are excessive. ASPD is a predictor of poor treatment response. ASPD begins early in life, usually by age 8 years. Diagnosed as conduct disorder in childhood, the diagnosis converts to ASPD at age 18 if antisocial behaviours have persisted. While chronic and lifelong for most people with ASPD, the disorder tends to improve with advancing age. Earlier onset is associated with a poorer prognosis. Other moderating factors include marriage, employment, early incarceration (or adjudication during childhood), and degree of socialization.

  12. The aging brain and neurodegenerative disorders

    International Nuclear Information System (INIS)

    Braffman, B.H.; Trojanowski, J.Q.; Atlas, S.W.

    1991-01-01

    Both the aging brain and neurodegenerative disorders are characterized by a lack of vital endurance of affected neurons resulting in their premature death. Neuronal shrinkage or atrophy and death are normal and inevitable aspects of normal or successful aging; this is unexpected, excessive, and premature in neurodegenerative disorders. These histologic changes result in the neuroimaging findings of focal and/or diffuse atrophy with consequent enlargement of cerebrospinal fluid (CSF) spaces. The aging brain and neurodegenerative disorders share other magnetic resonance (MR) changes, i.e., markedly hypointense extrapyramidal nuclei and hyperintense white matter foci. The sequelae of senescent vascular changes result in additional characteristic features of the aging brain. This paper presents the MR and neuropathologic manifestations of both the normal aging brain and the brain affected by neurodegenerative disorders

  13. Subacromial shoulder disorders among baggage handlers

    DEFF Research Database (Denmark)

    Thygesen, Lau Caspar; Mikkelsen, Sigurd; Pedersen, Ellen Bøtker

    2016-01-01

    PURPOSE: To assess the influence of cumulative employment as baggage handler on the risk of incident subacromial shoulder disorders. Baggage handling is characterized by repetitive work primarily consisting of heavy lifting in awkward positions and time pressure. METHODS: This cohort study is based...... increased incidence of subacromial shoulder disorders for workers with longer cumulative years of employment. These results support that long-term lifting in awkward positions and time pressure influences the risk of subacromial shoulder disorders....... System. The primary exposure was cumulative years of employment as a baggage handler, and the primary outcome was diagnoses and surgical treatment of subacromial shoulder disorders. RESULTS: The cohort contained 3396 baggage handlers and 63,909 workers in the reference group. Baggage handlers with longer...

  14. Neurodevelopmental outcome in Angelman syndrome: Genotype-phenotype correlations

    DEFF Research Database (Denmark)

    Mertz, Line Granild Bie; Thaulov, Per; Trillingsgaard, Anegen

    2014-01-01

    Angelman syndrome (AS) is a neurogenetic disorder characterized by intellectual disability, developmental delay, lack of speech, and epileptic seizures. Previous studies have indicated that children with AS due to 15q11.2-q13 deletions have a more severe developmental delay and present more often...... with 15q11.2-q13 deletions revealed that over 12 years, the level of autistic features did not change, but both receptive and expressive language skills improved. (C) 2014 Elsevier Ltd. All rights reserved....

  15. Schizoaffective Disorder in the DSM-5.

    Science.gov (United States)

    Malaspina, Dolores; Owen, Michael J; Heckers, Stephan; Tandon, Rajiv; Bustillo, Juan; Schultz, Susan; Barch, Deanna M; Gaebel, Wolfgang; Gur, Raquel E; Tsuang, Ming; Van Os, Jim; Carpenter, William

    2013-10-01

    Characterization of patients with both psychotic and mood symptoms, either concurrently or at different points during their illness, has always posed a nosological challenge and this is reflected in the poor reliability, low diagnostic stability, and questionable validity of DSM-IV Schizoaffective Disorder. The clinical reality of the frequent co-occurrence of psychosis and Mood Episodes has also resulted in over-utilization of a diagnostic category that was originally intended to only rarely be needed. In the Diagnostic and Statistical Manual of Mental Disorders, fifth edition, an effort is made to improve reliability of this condition by providing more specific criteria and the concept of Schizoaffective Disorder shifts from an episode diagnosis in DSM-IV to a life-course of the illness in DSM-5. When psychotic symptoms occur exclusively during a Mood Episode, DSM-5 indicates that the diagnosis is the appropriate Mood Disorder with Psychotic Features, but when such a psychotic condition includes at least a two-week period of psychosis without prominent mood symptoms, the diagnosis may be either Schizoaffective Disorder or Schizophrenia. In the DSM-5, the diagnosis of Schizoaffective Disorder can be made only if full Mood Disorder episodes have been present for the majority of the total active and residual course of illness, from the onset of psychotic symptoms up until the current diagnosis. In earlier DSM versions the boundary between Schizophrenia and Schizoaffective Disorder was only qualitatively defined, leading to poor reliability. This change will provide a clearer separation between Schizophrenia with mood symptoms from Schizoaffective Disorder and will also likely reduce rates of diagnosis of Schizoaffective Disorder while increasing the stability of this diagnosis once made. Copyright © 2013 Elsevier B.V. All rights reserved.

  16. Recent Advances in Imprinting Disorders

    DEFF Research Database (Denmark)

    Soellner, L; Begemann, M; Mackay, D J G

    2017-01-01

    Imprinting disorders (ImpDis) are a group of currently 12 congenital diseases with common underlying (epi)genetic etiologies and overlapping clinical features affecting growth, development and metabolism. In the last years it has emerged that ImpDis are characterized by the same types of mutations...... and epimutations, i.e. uniparental disomies, copy number variations, epimutations, and point mutations. Each ImpDis is associated with a specific imprinted locus, but the same imprinted region can be involved in different ImpDis. Additionally, even the same aberrant methylation patterns are observed in different...

  17. Indicators for suicide substrate inactivation: A kinetic investigation

    Indian Academy of Sciences (India)

    Sharmistha Dhatt

    2017-11-20

    Nov 20, 2017 ... ... cell death that plays a major role in diseases like cancer, HIV, ... to authorized users. neurogenetive disorder occurs through cell suicide pro- gramme ... indicators have a much limited scope of application since they demand ...

  18. Compulsive buying disorder: a review of the evidence.

    Science.gov (United States)

    Black, Donald W

    2007-02-01

    Compulsive buying disorder is characterized by excessive or poorly controlled preoccupations, urges, or behaviors regarding shopping and spending that lead to subjective distress or impaired functioning. Compulsive buying disorder is estimated to have a lifetime prevalence of 5.8% in the United States general adult population. In clinical settings, most individuals with compulsive buying disorder are women (approximately 80%). This gender difference may be artifactual. Compulsive buying disorder is typically chronic or intermittent, with an age of onset in the late teens or early 20s. Comorbid mood and anxiety disorders, substance use disorders, eating disorders, and other disorders of impulse control are common, as are Axis II disorders. The disorder occurs worldwide, mainly in developed countries with market-based economies, and it tends to run in families with mood disorders and substance abuse. There is no standard treatment for compulsive buying disorder, but group cognitive-behavioral models seem promising, and psychopharmacologic treatments are being actively studied. Other treatment options include simplicity circles, 12-step programs, financial counseling, bibliotherapy, marital therapy, and financial counseling. Directions for future research are discussed.

  19. Devastating metabolic brain disorders of newborns and young infants.

    Science.gov (United States)

    Yoon, Hyun Jung; Kim, Ji Hye; Jeon, Tae Yeon; Yoo, So-Young; Eo, Hong

    2014-01-01

    Metabolic disorders of the brain that manifest in the neonatal or early infantile period are usually associated with acute and severe illness and are thus referred to as devastating metabolic disorders. Most of these disorders may be classified as organic acid disorders, amino acid metabolism disorders, primary lactic acidosis, or fatty acid oxidation disorders. Each disorder has distinctive clinical, biochemical, and radiologic features. Early diagnosis is important both for prompt treatment to prevent death or serious sequelae and for genetic counseling. However, diagnosis is often challenging because many findings overlap and may mimic those of more common neonatal conditions, such as hypoxic-ischemic encephalopathy and infection. Ultrasonography (US) may be an initial screening method for the neonatal brain, and magnetic resonance (MR) imaging is the modality of choice for evaluating metabolic brain disorders. Although nonspecific imaging findings are common in early-onset metabolic disorders, characteristic patterns of brain involvement have been described for several disorders. In addition, diffusion-weighted images may be used to characterize edema during an acute episode of encephalopathy, and MR spectroscopy depicts changes in metabolites that may help diagnose metabolic disorders and assess response to treatment. Imaging findings, including those of advanced MR imaging techniques, must be closely reviewed. If one of these rare disorders is suspected, the appropriate biochemical test or analysis of the specific gene should be performed to confirm the diagnosis. ©RSNA, 2014.

  20. Autism spectrum disorder - Asperger syndrome

    Science.gov (United States)

    ... part of the larger developmental disorder category of autism spectrum disorder . ... American Psychiatric Association. Autism spectrum disorder. ... VA: American Psychiatric Publishing: 2013;50-59. Raviola GJ, ...

  1. Microendophenotypes of psychiatric disorders: phenotypes of psychiatric disorders at the level of molecular dynamics, synapses, neurons, and neural circuits.

    Science.gov (United States)

    Kida, S; Kato, T

    2015-01-01

    Psychiatric disorders are caused not only by genetic factors but also by complicated factors such as environmental ones. Moreover, environmental factors are rarely quantitated as biological and biochemical indicators, making it extremely difficult to understand the pathological conditions of psychiatric disorders as well as their underlying pathogenic mechanisms. Additionally, we have actually no other option but to perform biological studies on postmortem human brains that display features of psychiatric disorders, thereby resulting in a lack of experimental materials to characterize the basic biology of these disorders. From these backgrounds, animal, tissue, or cell models that can be used in basic research are indispensable to understand biologically the pathogenic mechanisms of psychiatric disorders. In this review, we discuss the importance of microendophenotypes of psychiatric disorders, i.e., phenotypes at the level of molecular dynamics, neurons, synapses, and neural circuits, as targets of basic research on these disorders.

  2. Common Questions About Oppositional Defiant Disorder.

    Science.gov (United States)

    Riley, Margaret; Ahmed, Sana; Locke, Amy

    2016-04-01

    Oppositional defiant disorder (ODD) is a disruptive behavior disorder characterized by a pattern of angry or irritable mood, argumentative or defiant behavior, or vindictiveness lasting for at least six months. Children and adolescents with ODD may have trouble controlling their temper and are often disobedient and defiant toward others. There are no tools specifically designed for diagnosing ODD, but multiple questionnaires can aid in diagnosis while assessing for other psychiatric conditions. ODD is often comorbid with attention-deficit/hyperactivity disorder, conduct disorder, and mood disorders, including anxiety and depression. Behavioral therapy for the child and family members improves symptoms of ODD. Medications are not recommended as first-line treatment for ODD; however, treatment of comorbid mental health conditions with medications often improves ODD symptoms. Adults and adolescents with a history of ODD have a greater than 90% chance of being diagnosed with another mental illness in their lifetime. They are at high risk of developing social and emotional problems as adults, including suicide and substance use disorders. Early intervention seeks to prevent the development of conduct disorder, substance abuse, and delinquency that can cause lifelong social, occupational, and academic impairments.

  3. Tic Disorder and ADHD

    OpenAIRE

    J Gordon Millichap

    2001-01-01

    The behavioral and neuropsychological characteristics of tic disorder, with or without attention-deficit hyperactivity disorder (ADHD), were examined in 78 children followed at Seoul National University College of Medicine, Korea.

  4. Stereotypic movement disorder

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001548.htm Stereotypic movement disorder To use the sharing features on this page, please enable JavaScript. Stereotypic movement disorder is a condition in which a person makes ...

  5. Co-Occurring Disorders

    Science.gov (United States)

    ... the mental health field. Alcohol and Drug Abuse, Addiction and Co-occurring Disorders: Co-occurring Disorders and ... 500 Montgomery Street, Suite 820 Alexandria, VA 22314 Phone (703) 684.7722 Toll Free (800) 969.6642 ...

  6. Sleep and Eating Disorders.

    Science.gov (United States)

    Allison, Kelly C; Spaeth, Andrea; Hopkins, Christina M

    2016-10-01

    Insomnia is related to an increased risk of eating disorders, while eating disorders are related to more disrupted sleep. Insomnia is also linked to poorer treatment outcomes for eating disorders. However, over the last decade, studies examining sleep and eating disorders have relied on surveys, with no objective measures of sleep for anorexia nervosa or bulimia nervosa, and only actigraphy data for binge eating disorder. Sleep disturbance is better defined for night eating syndrome, where sleep efficiency is reduced and melatonin release is delayed. Studies that include objectively measured sleep and metabolic parameters combined with psychiatric comorbidity data would help identify under what circumstances eating disorders and sleep disturbance produce an additive effect for symptom severity and for whom poor sleep would increase risk for an eating disorder. Cognitive behavior therapy for insomnia may be a helpful addition to treatment of those with both eating disorder and insomnia.

  7. Genetic Brain Disorders

    Science.gov (United States)

    A genetic brain disorder is caused by a variation or a mutation in a gene. A variation is a different form ... mutation is a change in a gene. Genetic brain disorders affect the development and function of the ...

  8. Speech and Communication Disorders

    Science.gov (United States)

    ... to being completely unable to speak or understand speech. Causes include Hearing disorders and deafness Voice problems, ... or those caused by cleft lip or palate Speech problems like stuttering Developmental disabilities Learning disorders Autism ...

  9. Eye Movement Disorders

    Science.gov (United States)

    ... work properly. There are many kinds of eye movement disorders. Two common ones are Strabismus - a disorder ... in "crossed eyes" or "walleye." Nystagmus - fast, uncontrollable movements of the eyes, sometimes called "dancing eyes" Some ...

  10. Overview of Movement Disorders

    Science.gov (United States)

    ... of Delirium Additional Content Medical News Overview of Movement Disorders By Hector A. Gonzalez-Usigli, MD, Professor ... Neurology, HE UMAE Centro Médico Nacional de Occidente; Movement Disorders Clinic, Neurology at IMSS Alberto Espay, MD, ...

  11. Autism Spectrum Disorder

    Science.gov (United States)

    ... Caregiver Education » Fact Sheets Autism Spectrum Disorder Fact Sheet What is autism spectrum disorder? What are some ... of mutations in individual genes but rather spontaneous coding mutations across many genes. De novo mutations may ...

  12. What Are Reading Disorders?

    Science.gov (United States)

    ... and language-based learning disabilities are commonly called dyslexia . These disorders are present from a young age ... information about these problems. Types of Reading Disorders Dyslexia is a brain-based type of learning disability ...

  13. Males and Eating Disorders

    Science.gov (United States)

    ... Bar Home Current Issue Past Issues Males and Eating Disorders Past Issues / Spring 2008 Table of Contents For ... this page please turn Javascript on. Photo: PhotoDisc Eating disorders primarily affect girls and women, but boys and ...

  14. Neuroimaging of neurotic disorders

    International Nuclear Information System (INIS)

    Okubo, Yoshiro; Yahata, Noriaki

    2006-01-01

    Neuroimaging has been involved in recent biological approaches with evidence for neurotic disorders in place of diagnostic criteria on Freud theory hitherto. This review describes the present states of brain imaging in those disorders. Emotion has such three bases for environmental stimuli as recognition/evaluation of causable factors, manifestation, and its control, each of which occurs in various different regions connected by neuro-net work in the brain. The disorders are regarded as abnormality of the circuit that can be imaged. Documented and discussed are the actual regions imaged by MRI and PET in panic disorder, social phobia, phobias to specified things, posttraumatic stress disorder and obsessive-compulsive disorder. The approach is thought important for elucidating not only the pathogenesis of the disorders but also the human emotional functions and mechanism of the mind, which may lead to a better treatment of the disorders in future. (T.I)

  15. Diagnosing Tic Disorders

    Science.gov (United States)

    ... Submit" /> Information For… Media Policy Makers Diagnosing Tic Disorders Language: English (US) Español (Spanish) Recommend on ... or postviral encephalitis). Persistent (Chronic) Motor or Vocal Tic Disorder To be diagnosed with a persistent tic ...

  16. Amino Acid Metabolism Disorders

    Science.gov (United States)

    ... this process. One group of these disorders is amino acid metabolism disorders. They include phenylketonuria (PKU) and maple syrup urine disease. Amino acids are "building blocks" that join together to form ...

  17. Alcohol use disorder

    Science.gov (United States)

    ... have problems with alcohol if you: Are a young adult under peer pressure Have depression, bipolar disorder , anxiety disorders , or schizophrenia Can easily obtain alcohol Have low self-esteem Have problems with relationships Live a stressful lifestyle ...

  18. Language disorder - children

    Science.gov (United States)

    ... disorders are rarely caused by a lack of intelligence. Language disorders are different than delayed language. With ... 2018, A.D.A.M., Inc. Duplication for commercial use must be authorized in writing by ADAM ...

  19. Bipolar disorder: an overview

    African Journals Online (AJOL)

    manic-depressive disorder, is a chronic disorder characterised by abnormal mood ... of onset, family history, atypical features and mixed symptoms. Screening tools .... has been associated with mood irritability, anxiety, mania and psychosis.

  20. Betaxolol in anxiety disorders.

    Science.gov (United States)

    Swartz, C M

    1998-03-01

    Betaxolol, a long-acting beta-adrenergic blocker that enters the central nervous system, was examined for therapeutic effects on the persistent anxiety of anxiety disorders. Prior studies of beta-blockers examined only agents that were short-acting or did not enter the brain. Betaxolol was administered to 31 patients in open trials. Of 13 outpatients, 11 had generalized anxiety disorder (GAD) and 2 had adjustment disorder with anxiety. Five with GAD had concurrent panic disorder. Of 18 inpatients, 16 had GAD and 2 had adjustment disorder with anxiety. Betaxolol doses were increased until the patient responded or declined further dosage. Severity was rated on a 4-point global scale. Before betaxolol, all were moderately or severely ill. In all patients with panic disorder panic attacks stopped within 2 days (pAnxiety decreased to no more than marginally ill in 85% of outpatients (panxiety and obsessive-compulsive personality disorder. Preliminary observations in posttraumatic stress disorder are similar.

  1. Heart Diseases and Disorders

    Science.gov (United States)

    ... Resources Heart Diseases & Disorders Back to Patient Resources Heart Diseases & Disorders Millions of people experience irregular or abnormal ... harmless and happen in healthy people free of heart disease. However, some abnormal heart rhythms can be serious ...

  2. Body Dysmorphic Disorder

    Science.gov (United States)

    ... compulsive disorder. Environment. Your environment, life experiences and culture may contribute to body dysmorphic disorder, especially if they involve negative social evaluations about your body or self-image, or even childhood neglect or abuse. Risk factors ...

  3. Reproductive Disorders in Snakes.

    Science.gov (United States)

    Di Girolamo, Nicola; Selleri, Paolo

    2017-05-01

    Reproduction of snakes is one of the challenging aspects of herpetology medicine. Due to the complexity of reproduction, several disorders may present before, during, or after this process. This article describes the physical examination, and radiographic, ultrasonographic, and endoscopic findings associated with reproductive disorders in snakes. Surgical techniques used to resolve reproductive disorders in snakes are described. Finally, common reproductive disorders in snakes are individually discussed. Copyright © 2017 Elsevier Inc. All rights reserved.

  4. Sleep and anxiety disorders

    OpenAIRE

    Staner, Luc

    2003-01-01

    Sleep disturbances-particularly insomnia - are highly prevalent in anxiety disorders and complaints such as insomnia or nightmares have even been incorporated in some anxiety disorder definitions, such as generalized anxiety disorder and posttraumatic stress disorder. In the first part of this review, the relationship between sleep and anxiety is discussed in terms of adaptive response to stress. Recent studies suggested that the corticotropin-releasing hormone system and the locus ceruleus-a...

  5. Generalised anxiety disorder

    OpenAIRE

    Gale, Christopher K; Millichamp, Jane

    2011-01-01

    Generalised anxiety disorder is characterised by persistent, excessive and difficult-to-control worry, which may be accompanied by several psychic and somatic symptoms, including suicidality. Generalized anxiety disorder is the most common psychiatric disorder in the primary care, although it is often underrecognised and undertreated. Generalized anxiety disorder is typically a chronic condition with low short- and medium-term remission rates. Clinical presentations often include depression, ...

  6. Cytokines in bipolar disorder

    DEFF Research Database (Denmark)

    Munkholm, Klaus; Vinberg, Maj; Vedel Kessing, Lars

    2012-01-01

    BACKGROUND: Current research and hypothesis regarding the pathophysiology of bipolar disorder suggests the involvement of immune system dysfunction that is possibly related to disease activity. Our objective was to systematically review evidence of cytokine alterations in bipolar disorder according...... to affective state. METHODS: We conducted a systemtic review of studies measuring endogenous cytokine concentrations in patients with bipolar disorder and a meta-analysis, reporting results according to the PRISMA statement. RESULTS: Thirteen studies were included, comprising 556 bipolar disorder patients...

  7. Common anorectal disorders.

    Science.gov (United States)

    Foxx-Orenstein, Amy E; Umar, Sarah B; Crowell, Michael D

    2014-05-01

    Anorectal disorders result in many visits to healthcare specialists. These disorders include benign conditions such as hemorrhoids to more serious conditions such as malignancy; thus, it is important for the clinician to be familiar with these disorders as well as know how to conduct an appropriate history and physical examination. This article reviews the most common anorectal disorders, including hemorrhoids, anal fissures, fecal incontinence, proctalgia fugax, excessive perineal descent, and pruritus ani, and provides guidelines on comprehensive evaluation and management.

  8. Sexual Desire Disorders

    OpenAIRE

    Montgomery, Keith A.

    2008-01-01

    Hypoactive sexual desire disorder (HSDD) and sexual aversion disorder (SAD) are an under-diagnosed group of disorders that affect men and women. Despite their prevalence, these two disorders are often not addressed by healthcare providers and patients due their private and awkward nature. As physicians, we need to move beyond our own unease in order to adequately address our patients’ sexual problems and implement appropriate treatment. Using the Sexual Response Cycle as the model of the phys...

  9. Functional esophageal disorders

    OpenAIRE

    Clouse, R; Richter, J; Heading, R; Janssens, J; Wilson, J

    1999-01-01

    The functional esophageal disorders include globus, rumination syndrome, and symptoms that typify esophageal diseases (chest pain, heartburn, and dysphagia). Factors responsible for symptom production are poorly understood. The criteria for diagnosis rest not only on compatible symptoms but also on exclusion of structural and metabolic disorders that might mimic the functional disorders. Additionally, a functional diagnosis is precluded by the presence of a pathology-based motor disorder or p...

  10. Brief Report: Childhood Disintegrative Disorder as a Likely Manifestation of Vitamin B12 Deficiency

    Science.gov (United States)

    Malhotra, Savita; Subodh, B. N.; Parakh, Preeti; Lahariya, Sanjay

    2013-01-01

    Childhood disintegrative disorder is a rare disorder, characterized by regression of acquired skills after a period of normal development. The case of childhood disintegrative disorder presented here was found to have vitamin B12 deficiency and hyperhomocysteinemia on extensive evaluation to find a probable cause for regression. This case…

  11. Evidence for a Multi-Dimensional Latent Structural Model of Externalizing Disorders

    Science.gov (United States)

    Witkiewitz, Katie; King, Kevin; McMahon, Robert J.; Wu, Johnny; Luk, Jeremy; Bierman, Karen L.; Coie, John D.; Dodge, Kenneth A.; Greenberg, Mark T.; Lochman, John E.; Pinderhughes, Ellen E.

    2013-01-01

    Strong associations between conduct disorder (CD), antisocial personality disorder (ASPD) and substance use disorders (SUD) seem to reflect a general vulnerability to externalizing behaviors. Recent studies have characterized this vulnerability on a continuous scale, rather than as distinct categories, suggesting that the revision of the…

  12. Ketamine as a Rapid Treatment for Post-Traumatic Stress Disorder

    Science.gov (United States)

    2011-10-01

    Post - traumatic stress disorder ( PTSD ) is a debilitating anxiety disorder characterized by intrusive re-experiences of the traumatic events...08-1-0602 TITLE: Ketamine as a Rapid Treatment for Post - Traumatic Stress Disorder PRINCIPAL INVESTIGATOR: Dennis Charney...dissociative effects of ketamine but not have any sustained anxiolytic and antidepressant effects. Forty individuals diagnosed with post - traumatic

  13. The norepinephrine transporter gene is a candidate gene for panic disorder

    DEFF Research Database (Denmark)

    Buttenschøn, Henriette Nørmølle; Kristensen, A S; Buch, H N

    2011-01-01

    Panic disorder (PD) is an anxiety disorder characterized by recurrent panic attacks with a lifetime prevalence of 4.7%. Genetic factors are known to contribute to the development of the disorder. Several lines of evidence point towards a major role of the norepinephrine system in the pathogenesis...

  14. Electronic monitoring in bipolar disorder.

    Science.gov (United States)

    Faurholt-Jepsen, Maria

    2018-03-01

    Major reasons for the insufficient effects of current treatment options in bipolar disorder include delayed intervention for prodromal depressive and manic symptoms and decreased adherence to psychopharmacological treatment. The reliance on subjective information and clinical evaluations when diagnosing and assessing the severity of depressive and manic symptoms calls for less biased and more objective markers. By using electronic devices, fine-grained data on complex psychopathological aspects of bipolar disorder can be evaluated unobtrusively over the long term. Moreover, electronic data could possibly represent candidate markers of diagnosis and illness activity in bipolar disorder and allow for early and individualized intervention for prodromal symptoms outside clinical settings. 
The present dissertation concerns the use of electronic monitoring as a marker and treatment intervention in bipolar disorder and investigated the scientific literature and body of evidence within the area, which includes ten original study reports and two systematic reviews, one of which included a meta-analysis, conducted by the author of the dissertation. 
Taken together, the literature presented in this dissertation illustrates that 1) smartphone-based electronic self-monitoring of mood seems to reflect clinically assessed depressive and manic symptoms and enables the long-term characterization of mood

instability in bipolar disorder; 2) preliminary results suggest that smartphone-based automatically generated data (e.g. the number of text messages sent/day; the number of incoming and outgoing calls/day; the number of changes in cell tower IDs/day; and voice features) seem to reflect clinically assessed depressive and manic symptoms in bipolar disorder; 3) smartphone-based electronic self-monitoring had no effects on the severity of depressive and manic symptoms in bipolar disorder, according to a randomized controlled trial; and 4) electronic monitoring of psychomotor

  15. Seizure Disorders in Pregnancy

    Science.gov (United States)

    ... If I have a seizure disorder, can it cause problems during pregnancy? • What risks are associated with having a seizure ... If I have a seizure disorder, can it cause problems during pregnancy? Seizure disorders can affect pregnancy in several ways: • ...

  16. Mood Disorders - Multiple Languages

    Science.gov (United States)

    ... Expand Section Mood Disorders: MedlinePlus Health Topic - English Trastornos del estado de ánimo: Tema de salud de MedlinePlus - español (Spanish) National Library of Medicine Bipolar Disorder (An Introduction) - English PDF Bipolar Disorder (An ...

  17. Separation anxiety disorder

    NARCIS (Netherlands)

    Nauta, M.H.; Emmelkamp, P.M.G.; Sturmey, P.; Hersen, M.

    2012-01-01

    Separation anxiety disorder (SAD) is the only anxiety disorder that is specific to childhood; however, SAD has hardly ever been addressed as a separate disorder in clinical trials investigating treatment outcome. So far, only parent training has been developed specifically for SAD. This particular

  18. Diagnosis of Mood Disorders.

    Science.gov (United States)

    Seligman, Linda; Moore, Bonita Marcus

    1995-01-01

    Provides an overview of mood disorders according to Diagnostic and Statistical Manual (fourth edition) criteria and other relevant information. Differential diagnosis is facilitated through discussion of differences and similarities among mental disorders, age and gender-related patterns of mood disorders, and useful diagnostic tools. (Author)

  19. Dissociative Identity Disorder

    Science.gov (United States)

    Schmidt, Tom

    2007-01-01

    Few psychological disorders in the Diagnostic Statistical Manual have generated as much controversy as Dissociative Identity Disorder (DID). For the past 35 years diagnoses of DID, previously referred to as Multiple Personality Disorder (MPD), have increased exponentially, causing various psychological researchers and clinicians to question the…

  20. Lipid Metabolism Disorders

    Science.gov (United States)

    ... using blood tests. If there is a family history of one of these disorders, parents can get genetic testing to see whether they carry the gene. Other genetic tests can tell whether the fetus has the disorder or carries the gene for the disorder. Enzyme replacement therapies can help with a few of ...