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Sample records for neurogenetic disorder caused

  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. [Difficulties of genetic counselling in rare, mainly neurogenetic disorders].

    Science.gov (United States)

    Horváth, Emese; Nagy, Nikoletta; Széll, Márta

    2014-08-03

    In recent decades methods used for the investigation of the genetic background of rare diseases showed a great improvement. The aim of the authors was to demonstrate difficulties of genetic counselling and investigations in case of five rare, mainly neurogenetic diseases. During pre-test genetic counselling, the disease suspected from the clinical symptoms and the available genetic tests were considered. During post-test genetic counselling, the results of the genetic tests were discussed. In three of the five cases genetic tests identified the disease-causing genetic abnormalities, while in two cases the causative abnormalities were not identified. Despite a great improvement of the available genetic methods, the causative genetic abnormalities cannot be identified in some cases. The genetic counsellor has a key role in the assessment and interpretation of the results and in helping the family planning.

  3. 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.

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

    OpenAIRE

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

    2014-01-01

    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 par...

  5. 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.

  6. Plasticity and mTOR: towards restoration of impaired synaptic plasticity in mTOR-related neurogenetic disorders.

    Science.gov (United States)

    Gipson, Tanjala T; Johnston, Michael V

    2012-01-01

    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. Pubmed and Clinicaltrials.gov were searched using specific search strategies. 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.

  7. 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.

  8. 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.

  9. 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.

  10. Neurogenetic interactions and aberrant behavioral co-morbidity of attention deficit hyperactivity disorder (ADHD: dispelling myths

    Directory of Open Access Journals (Sweden)

    Mengucci Julie F

    2005-12-01

    Full Text Available Abstract Background Attention Deficit Hyperactivity Disorder, commonly referred to as ADHD, is a common, complex, predominately genetic but highly treatable disorder, which in its more severe form has such a profound effect on brain function that every aspect of the life of an affected individual may be permanently compromised. Despite the broad base of scientific investigation over the past 50 years supporting this statement, there are still many misconceptions about ADHD. These include believing the disorder does not exist, that all children have symptoms of ADHD, that if it does exist it is grossly over-diagnosed and over-treated, and that the treatment is dangerous and leads to a propensity to drug addiction. Since most misconceptions contain elements of truth, where does the reality lie? Results We have reviewed the literature to evaluate some of the claims and counter-claims. The evidence suggests that ADHD is primarily a polygenic disorder involving at least 50 genes, including those encoding enzymes of neurotransmitter metabolism, neurotransmitter transporters and receptors. Because of its polygenic nature, ADHD is often accompanied by other behavioral abnormalities. It is present in adults as well as children, but in itself it does not necessarily impair function in adult life; associated disorders, however, may do so. A range of treatment options is reviewed and the mechanisms responsible for the efficacy of standard drug treatments are considered. Conclusion The genes so far implicated in ADHD account for only part of the total picture. Identification of the remaining genes and characterization of their interactions is likely to establish ADHD firmly as a biological disorder and to lead to better methods of diagnosis and treatment.

  11. Cell type-specific expression analysis to identify putative cellular mechanisms for neurogenetic disorders.

    Science.gov (United States)

    Xu, Xiaoxiao; Wells, Alan B; O'Brien, David R; Nehorai, Arye; Dougherty, Joseph D

    2014-01-22

    Recent advances have substantially increased the number of genes that are statistically associated with complex genetic disorders of the CNS such as autism and schizophrenia. It is now clear that there will likely be hundreds of distinct loci contributing to these disorders, underscoring a remarkable genetic heterogeneity. It is unclear whether this genetic heterogeneity indicates an equal heterogeneity of cellular mechanisms for these diseases. The commonality of symptoms across patients suggests there could be a functional convergence downstream of these loci upon a limited number of cell types or circuits that mediate the affected behaviors. One possible mechanism for this convergence would be the selective expression of at least a subset of these genes in the cell types that comprise these circuits. Using profiling data from mice and humans, we have developed and validated an approach, cell type-specific expression analysis, for identifying candidate cell populations likely to be disrupted across sets of patients with distinct genetic lesions. Using human genetics data and postmortem gene expression data, our approach can correctly identify the cell types for disorders of known cellular etiology, including narcolepsy and retinopathies. Applying this approach to autism, a disease where the cellular mechanism is unclear, indicates there may be multiple cellular routes to this disorder. Our approach may be useful for identifying common cellular mechanisms arising from distinct genetic lesions.

  12. Computational neurogenetic modeling

    CERN Document Server

    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

  13. The p.Ala510Val mutation in the SPG7 (paraplegin) gene is the most common mutation causing adult onset neurogenetic disease in patients of British ancestry.

    Science.gov (United States)

    Roxburgh, Richard H; Marquis-Nicholson, Renate; Ashton, Fern; George, Alice M; Lea, Rod A; Eccles, David; Mossman, Stuart; Bird, Thomas; van Gassen, Koen L; Kamsteeg, Erik-Jan; Love, Donald R

    2013-05-01

    The c.1529C >T change in the SPG7 gene, encoding the mutant p.Ala510Val paraplegin protein, was first described as a polymorphism in 1998. This was based on its frequency of 3 % and 4 % in two separate surveys of controls in the United Kingdom (UK) population. Subsequently, it has been found to co-segregate with disease in a number of different populations. Yeast expression studies support its having a deleterious effect. In this paper a consanguineous sibship is described in which four members who are homozygous for the p.Ala510Val variant present with a spectrum of disease. This spectrum encompasses moderately severe hereditary spastic paraparesis (HSP) with more minor ataxia in two siblings, moderately severe ataxia without spasticity in the third, and a very mild gait ataxia in the fourth. Two of the siblings also manifest vestibular failure. The remaining eight unaffected siblings are either heterozygous for the p.Ala510Val variant, or do not carry it at all. Homozygosity mapping using a high-density SNP array across the whole genome found just 11 genes (on two regions of chromosome 3) outside the SPG7 region on chromosome 16, which were homozygously shared by the affected siblings, but not shared by the unaffected siblings; none of them are likely to be causative. The weight of evidence is strongly in favour of the p.Ala510Val variant being a disease-causing mutation. We present additional data from the Auckland City Hospital neurogenetics clinic to show that the p.Ala510Val mutation is prevalent amongst HSP patients of UK extraction belying any suggestion that European p.Ala510Val haplotypes harbour a disease-causing mutation which the UK p.Ala510Val haplotypes do not. Taken together with previous findings of a carrier frequency of 3-4 % in the UK population (giving a homozygosity rate of 20-40/100,000), the data imply that the p.Ala510Val is the most common mutation causing neurogenetic disease in adults of UK ancestry, albeit the penetrance may be low or

  14. 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.

  15. Accelerating Novel Candidate Gene Discovery in Neurogenetic Disorders via Whole-Exome Sequencing of Prescreened Multiplex Consanguineous Families

    Directory of Open Access Journals (Sweden)

    Anas M. Alazami

    2015-01-01

    Full Text Available Our knowledge of disease genes in neurological disorders is incomplete. With the aim of closing this gap, we performed whole-exome sequencing on 143 multiplex consanguineous families in whom known disease genes had been excluded by autozygosity mapping and candidate gene analysis. This prescreening step led to the identification of 69 recessive genes not previously associated with disease, of which 33 are here described (SPDL1, TUBA3E, INO80, NID1, TSEN15, DMBX1, CLHC1, C12orf4, WDR93, ST7, MATN4, SEC24D, PCDHB4, PTPN23, TAF6, TBCK, FAM177A1, KIAA1109, MTSS1L, XIRP1, KCTD3, CHAF1B, ARV1, ISCA2, PTRH2, GEMIN4, MYOCD, PDPR, DPH1, NUP107, TMEM92, EPB41L4A, and FAM120AOS. We also encountered instances in which the phenotype departed significantly from the established clinical presentation of a known disease gene. Overall, a likely causal mutation was identified in >73% of our cases. This study contributes to the global effort toward a full compendium of disease genes affecting brain function.

  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. [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.

  18. 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.

  19. Genetic Causes of Cerebrovascular Disorders in Childhood

    NARCIS (Netherlands)

    M.E.C. Meuwissen (Marije)

    2014-01-01

    markdownabstract__Abstract__ Cerebrovascular disorders in childhood comprise ischemic stroke and hemorrhagic stroke. This thesis comprises a escription of genetic causes of childhood cerebrovascular disorders. Two examples of genetic causes of ischemic stroke, comprising a case of ACTA2 mutation

  20. GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder

    NARCIS (Netherlands)

    Deckert, J.; Weber, H.; Villmann, C.; Lonsdorf, T.B.; Richter, J.; Andreatta, M.; Arias-Vasquez, A.; Hommers, L.; Kent, L.; Schartner, C.; Cichon, S.; Wolf, C.; Schaefer, N.; Collenberg, C.R. von; Wachter, B. de; Blum, R.; Schumann, D.; Scharfenort, R.; Schumacher, J.; Forstner, A.J.; Baumann, C.; Schiele, M.A.; Notzon, S.; Zwanzger, P.; Janzing, J.G.; Galesloot, T.E.; Kiemeney, L.A.L.M.; Gajewska, A.; Glotzbach-Schoon, E.; Muhlberger, A.; Alpers, G.; Fydrich, T.; Fehm, L.; Gerlach, A.L.; Kircher, T.; Lang, T.; Strohle, A.; Arolt, V.; Wittchen, H.U.; Kalisch, R.; Buchel, C.; Hamm, A.; Nothen, M.M.; Romanos, M.; Domschke, K.; Pauli, P.; Reif, A.

    2017-01-01

    The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition

  1. GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder.

    Science.gov (United States)

    Deckert, J; Weber, H; Villmann, C; Lonsdorf, T B; Richter, J; Andreatta, M; Arias-Vasquez, A; Hommers, L; Kent, L; Schartner, C; Cichon, S; Wolf, C; Schaefer, N; von Collenberg, C R; Wachter, B; Blum, R; Schümann, D; Scharfenort, R; Schumacher, J; Forstner, A J; Baumann, C; Schiele, M A; Notzon, S; Zwanzger, P; Janzing, J G E; Galesloot, T; Kiemeney, L A; Gajewska, A; Glotzbach-Schoon, E; Mühlberger, A; Alpers, G; Fydrich, T; Fehm, L; Gerlach, A L; Kircher, T; Lang, T; Ströhle, A; Arolt, V; Wittchen, H-U; Kalisch, R; Büchel, C; Hamm, A; Nöthen, M M; Romanos, M; Domschke, K; Pauli, P; Reif, A

    2017-10-01

    The molecular genetics of panic disorder (PD) with and without agoraphobia (AG) are still largely unknown and progress is hampered by small sample sizes. We therefore performed a genome-wide association study with a dimensional, PD/AG-related anxiety phenotype based on the Agoraphobia Cognition Questionnaire (ACQ) in a sample of 1370 healthy German volunteers of the CRC TRR58 MEGA study wave 1. A genome-wide significant association was found between ACQ and single non-coding nucleotide variants of the GLRB gene (rs78726293, P=3.3 × 10(-8); rs191260602, P=3.9 × 10(-8)). We followed up on this finding in a larger dimensional ACQ sample (N=2547) and in independent samples with a dichotomous AG phenotype based on the Symptoms Checklist (SCL-90; N=3845) and a case-control sample with the categorical phenotype PD/AG (Ncombined =1012) obtaining highly significant P-values also for GLRB single-nucleotide variants rs17035816 (P=3.8 × 10(-4)) and rs7688285 (P=7.6 × 10(-5)). GLRB gene expression was found to be modulated by rs7688285 in brain tissue, as well as cell culture. Analyses of intermediate PD/AG phenotypes demonstrated increased startle reflex and increased fear network, as well as general sensory activation by GLRB risk gene variants rs78726293, rs191260602, rs17035816 and rs7688285. Partial Glrb knockout mice demonstrated an agoraphobic phenotype. In conjunction with the clinical observation that rare coding GLRB gene mutations are associated with the neurological disorder hyperekplexia characterized by a generalized startle reaction and agoraphobic behavior, our data provide evidence that non-coding, although functional GLRB gene polymorphisms may predispose to PD by increasing startle response and agoraphobic cognitions.

  2. A hybrid neurogenetic approach for stock forecasting.

    Science.gov (United States)

    Kwon, Yung-Keun; Moon, Byung-Ro

    2007-05-01

    In this paper, we propose a hybrid neurogenetic system for stock trading. A recurrent neural network (NN) having one hidden layer is used for the prediction model. The input features are generated from a number of technical indicators being used by financial experts. The genetic algorithm (GA) optimizes the NN's weights under a 2-D encoding and crossover. We devised a context-based ensemble method of NNs which dynamically changes on the basis of the test day's context. To reduce the time in processing mass data, we parallelized the GA on a Linux cluster system using message passing interface. We tested the proposed method with 36 companies in NYSE and NASDAQ for 13 years from 1992 to 2004. The neurogenetic hybrid showed notable improvement on the average over the buy-and-hold strategy and the context-based ensemble further improved the results. We also observed that some companies were more predictable than others, which implies that the proposed neurogenetic hybrid can be used for financial portfolio construction.

  3. Eyelid Dysfunction in Neurodegenerative, Neurogenetic, and Neurometabolic Disease

    Directory of Open Access Journals (Sweden)

    Ali G. Hamedani

    2017-07-01

    Full Text Available Eye movement abnormalities are among the earliest clinical manifestations of inherited and acquired neurodegenerative diseases and play an integral role in their diagnosis. Eyelid movement is neuroanatomically linked to eye movement, and thus eyelid dysfunction can also be a distinguishing feature of neurodegenerative disease and complements eye movement abnormalities in helping us to understand their pathophysiology. In this review, we summarize the various eyelid abnormalities that can occur in neurodegenerative, neurogenetic, and neurometabolic diseases. We discuss eyelid disorders, such as ptosis, eyelid retraction, abnormal spontaneous and reflexive blinking, blepharospasm, and eyelid apraxia in the context of the neuroanatomic pathways that are affected. We also review the literature regarding the prevalence of eyelid abnormalities in different neurologic diseases as well as treatment strategies (Table 1.

  4. 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

  5. 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.

  6. [Voice disorders caused by neurological diseases].

    Science.gov (United States)

    Gamboa, J; Jiménez-Jiménez, F J; Mate, M A; Cobeta, I

    To review voice disorders in neurological diseases, with special emphasis to acoustic analysis. In the first part of this article we describe data regarding neural control of voice, physiology of phonation, and examination of the patient with voice disturbances, including the use of voice laboratory, acoustic analysis fundamentals, phonetometric measures and aerodynamic measures. In the second part, we review the voice disturbances associated to neurological diseases, emphasizing into movement disorders (specially Parkinson s disease, essential tremor, and spasmodic dysphonia). A number of neurological diseases causing alterations of corticospinal pathway, cerebellum, basal ganglia and upper and/or lower motoneurons can induce voice disturbances. Voice examination using ear, nose & throat examination, endoscopy and videorecording of laryngeal movements, acoustic analysis, elecroglottography, laryngeal electromyography, and aerodynamic measures, could be useful in the clinical examination of some neurological diseases.

  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. Factitious disorder: a rare cause of haematemesis.

    Science.gov (United States)

    McFarlane, Michael; Eaden, Jayne; Burch, Nicola; Disney, Ben

    2017-10-01

    Acute upper gastrointestinal (GI) bleeding is a common condition in the UK with 50-70,000 admissions per year. In 20% of cases no cause can be found on endoscopy. Here, we present the case of a young female patient who was admitted on three occasions with large volume haematemesis and bleeding from other sites. She was extensively investigated and underwent multiple endoscopic procedures. She was eventually diagnosed with factitious disorder after concerns were raised about the inconsistent nature of her presentations. She was found to be venesecting herself from her intravenous cannula, and ingesting the blood to simulate upper GI bleeding. This is a rare cause of 'haematemesis' but perhaps not as rare as is thought.

  9. Insights into brain development and disease from neurogenetic

    Indian Academy of Sciences (India)

    Studies carried out in this powerful neurogenetic model system during the last decade now provide insight into the molecular mechanisms that operate in neural stem cells during normal brain development and during abnormal brain tumorigenesis. These studies also provide strong support for the notion that conserved ...

  10. Insights into brain development and disease from neurogenetic ...

    Indian Academy of Sciences (India)

    2014-07-08

    Jul 8, 2014 ... Insights into brain development and disease from neurogenetic analyses in Drosophila melanogaster. HEINRICH REICHERT. Biozentrum, University of Basel, Basel, Switzerland. (Email, heinrich.reichert@unibas.ch). Groundbreaking work by Obaid Siddiqi has contributed to the powerful genetic toolkit that ...

  11. Causes of Childhood Disorders: New Findings

    Science.gov (United States)

    Whittaker, James K.

    1976-01-01

    The influence of parents on the origin and perpetuation of the developmental disorders of childhood has once again become a matter of controversy with important implications for social work education and practice. Reviewed here is recent research on two disorders--infantile autism and learning disabilities. (Author)

  12. Causes of Speech Disorders in Primary School Students of Zahedan

    Directory of Open Access Journals (Sweden)

    Saeed Fakhrerahimi

    2013-02-01

    Full Text Available Background: Since making communication with others is the most important function of speech, undoubtedly, any type of disorder in speech will affect the human communicability with others. The objective of the study was to investigate reasons behind the [high] prevalence rate of stammer, producing disorders and aglossia.Materials and Methods: This descriptive-analytical study was conducted on 118 male and female students, who were studying in a primary school in Zahedan; they had referred to the Speech Therapy Centers of Zahedan University of Medical Sciences in a period of seven months. The speech therapist examinations, diagnosis tools common in speech therapy, Spielberg Children Trait and also patients' cases were used to find the reasons behind the [high] prevalence rate of speech disorders. Results: Psychological causes had the highest rate of correlation with the speech disorders among the other factors affecting the speech disorders. After psychological causes, family history and age of the subjects are the other factors which may bring about the speech disorders (P<0.05. Bilingualism and birth order has a negative relationship with the speech disorders. Likewise, another result of this study shows that only psychological causes, social causes, hereditary causes and age of subjects can predict the speech disorders (P<0.05.Conclusion: The present study shows that the speech disorders have a strong and close relationship with the psychological causes at the first step and also history of family and age of individuals at the next steps.

  13. Perceptions of the causes of eating disorders: a comparison of individuals with and without eating disorders

    OpenAIRE

    Blodgett Salafia, Elizabeth H.; Jones, Maegan E.; Haugen, Emily C.; Schaefer, Mallary K.

    2015-01-01

    Background In this study, we examined perceptions regarding the causes of eating disorders, both among those with eating disorders as well as those without. By understanding the differences in perceived causes between the two groups, better educational programs for lay people and those suffering from eating disorders can be developed. Method This study used open-ended questions to assess the beliefs of 57 individuals with self-reported eating disorders and 220 without. Participants responded ...

  14. Perceptions of the causes of eating disorders: a comparison of individuals with and without eating disorders.

    Science.gov (United States)

    Blodgett Salafia, Elizabeth H; Jones, Maegan E; Haugen, Emily C; Schaefer, Mallary K

    2015-01-01

    In this study, we examined perceptions regarding the causes of eating disorders, both among those with eating disorders as well as those without. By understanding the differences in perceived causes between the two groups, better educational programs for lay people and those suffering from eating disorders can be developed. This study used open-ended questions to assess the beliefs of 57 individuals with self-reported eating disorders and 220 without. Participants responded to the questions, "What do you think was (were) the cause(s) of your eating disorder?" and "What do you think is (are) the cause(s) of eating disorders?". A list of possible codes for the causes of eating disorders was created based on a thorough review of the literature. A manually-generated set of eight codes was then created from individuals' actual responses. Frequencies and chi square analyses demonstrated differences in rates of endorsement between those with eating disorders and those without. Participants with eating disorders most frequently endorsed psychological/emotional and social problems, with genetics/biology and media/culture ideals least endorsed. Participants without eating disorders most frequently endorsed psychological/emotional problems and media/culture ideals, with traumatic life events and sports/health least endorsed. There was a difference between groups in the endorsement of the media as a cause of eating disorders, suggesting that those without eating disorders may overly attribute the media as the main cause while those with eating disorders may not be fully aware of the media's impact. Additionally, while both groups highly endorsed psychological/emotional problems, there was a noticeable stigma about eating disorders among those without eating disorders. There were noteworthy differences between samples; such differences suggest that there is a need for more education on the topic of eating disorders. Furthermore, despite empirical support for the effects of

  15. Lay theories of bipolar disorder: the causes, manifestations and cures for perceived bipolar disorder.

    Science.gov (United States)

    Furnham, Adrian; Anthony, Elizabeth

    2010-05-01

    This study aimed to investigate lay theories of the cause and treatment of bipolar disorder, and the recognition of its symptoms. This questionnaire-based study included vignette descriptions of mental disorders and 70 items relating to bipolar disorder. It was completed by 173 participants. Bipolar disorder was recognized less than depression but at the same rate as schizophrenia. Contrary to previous research, analysis showed that lay beliefs of the causes of bipolar disorder generally concur with scientific academic theories. Drug treatment was favoured as a cure rather than psychotherapy. Theories of cause and treatment were logically correlated. Overall, the results suggest that lay people have reasonably informed beliefs about the causes and treatments of bipolar disorder, however recognition of the symptoms is poor.

  16. Level of neurotic disorders among drivers causing traffic accidents

    OpenAIRE

    Đurić Predrag; Filipović Danka

    2007-01-01

    Different aspects of driver personality may affect traffic safety. Extended driver reaction time causes deceleration of the reflexes, which is a major cause of traffic accidents. Cornell index was used in 30 drivers responsible for traffic accidents, with the aim to measure their level of neurotic disorder and compare them with results of controls (drivers not responsible for traffic accidents). Reaction time was measured and compared among subjects with normal results of Cornell test and tho...

  17. Surgical improvement of speech disorder caused by amyotrophic lateral sclerosis.

    Science.gov (United States)

    Saigusa, Hideto; Yamaguchi, Satoshi; Nakamura, Tsuyoshi; Komachi, Taro; Kadosono, Osamu; Ito, Hiroyuki; Saigusa, Makoto; Niimi, Seiji

    2012-12-01

    Amyotrophic lateral sclerosis (ALS) is a progressive debilitating neurological disease. ALS disturbs the quality of life by affecting speech, swallowing and free mobility of the arms without affecting intellectual function. It is therefore of significance to improve intelligibility and quality of speech sounds, especially for ALS patients with slowly progressive courses. Currently, however, there is no effective or established approach to improve speech disorder caused by ALS. We investigated a surgical procedure to improve speech disorder for some patients with neuromuscular diseases with velopharyngeal closure incompetence. In this study, we performed the surgical procedure for two patients suffering from severe speech disorder caused by slowly progressing ALS. The patients suffered from speech disorder with hypernasality and imprecise and weak articulation during a 6-year course (patient 1) and a 3-year course (patient 2) of slowly progressing ALS. We narrowed bilateral lateral palatopharyngeal wall at velopharyngeal port, and performed this surgery under general anesthesia without muscle relaxant for the two patients. Postoperatively, intelligibility and quality of their speech sounds were greatly improved within one month without any speech therapy. The patients were also able to generate longer speech phrases after the surgery. Importantly, there was no serious complication during or after the surgery. In summary, we performed bilateral narrowing of lateral palatopharyngeal wall as a speech surgery for two patients suffering from severe speech disorder associated with ALS. With this technique, improved intelligibility and quality of speech can be maintained for longer duration for the patients with slowly progressing ALS.

  18. Genetic Addiction Risk Score (GARS): molecular neurogenetic evidence for predisposition to Reward Deficiency Syndrome (RDS).

    Science.gov (United States)

    Blum, Kenneth; Oscar-Berman, Marlene; Demetrovics, Zsolt; Barh, Debmalya; Gold, Mark S

    2014-12-01

    We have published extensively on the neurogenetics of brain reward systems with reference to the genes related to dopaminergic function in particular. In 1996, we coined "Reward Deficiency Syndrome" (RDS), to portray behaviors found to have gene-based association with hypodopaminergic function. RDS as a useful concept has been embraced in many subsequent studies, to increase our understanding of Substance Use Disorder (SUD), addictions, and other obsessive, compulsive, and impulsive behaviors. Interestingly, albeit others, in one published study, we were able to describe lifetime RDS behaviors in a recovering addict (17 years sober) blindly by assessing resultant Genetic Addiction Risk Score (GARS™) data only. We hypothesize that genetic testing at an early age may be an effective preventive strategy to reduce or eliminate pathological substance and behavioral seeking activity. Here, we consider a select number of genes, their polymorphisms, and associated risks for RDS whereby, utilizing GWAS, there is evidence for convergence to reward candidate genes. The evidence presented serves as a plausible brain-print providing relevant genetic information that will reinforce targeted therapies, to improve recovery and prevent relapse on an individualized basis. The primary driver of RDS is a hypodopaminergic trait (genes) as well as epigenetic states (methylation and deacetylation on chromatin structure). We now have entered a new era in addiction medicine that embraces the neuroscience of addiction and RDS as a pathological condition in brain reward circuitry that calls for appropriate evidence-based therapy and early genetic diagnosis and that requires further intensive investigation.

  19. High GC content causes orphan proteins to be intrinsically disordered.

    Directory of Open Access Journals (Sweden)

    Walter Basile

    2017-03-01

    Full Text Available De novo creation of protein coding genes involves the formation of short ORFs from noncoding regions; some of these ORFs might then become fixed in the population. These orphan proteins need to, at the bare minimum, not cause serious harm to the organism, meaning that they should for instance not aggregate. Therefore, although the creation of short ORFs could be truly random, the fixation should be subjected to some selective pressure. The selective forces acting on orphan proteins have been elusive, and contradictory results have been reported. In Drosophila young proteins are more disordered than ancient ones, while the opposite trend is present in yeast. To the best of our knowledge no valid explanation for this difference has been proposed. To solve this riddle we studied structural properties and age of proteins in 187 eukaryotic organisms. We find that, with the exception of length, there are only small differences in the properties between proteins of different ages. However, when we take the GC content into account we noted that it could explain the opposite trends observed for orphans in yeast (low GC and Drosophila (high GC. GC content is correlated with codons coding for disorder promoting amino acids. This leads us to propose that intrinsic disorder is not a strong determining factor for fixation of orphan proteins. Instead these proteins largely resemble random proteins given a particular GC level. During evolution the properties of a protein change faster than the GC level causing the relationship between disorder and GC to gradually weaken.

  20. Ultrasonographic Findings of Extratesticular Diseases Causing Acute Scrotal Disorders

    Energy Technology Data Exchange (ETDEWEB)

    Chung, Jae Joon; Lee, Tack; Chang, So Yong; Kim, Myeong Jin; Yoo, Hyung Sik; Lee, Jong Tae [Yonsei University College of Medicine, Seoul (Korea, Republic of)

    1996-12-15

    To evaluate the kinds of extratesticular diseases causing acute scrotal disorders by emergent sonography of the scrotum. Scrotal sonography in sixty-five patients, with age ranging from 5months to 82 years (mean : 27.3 years), with acute scrotal pain and swelling, was prospectively carried out by either a 10 or 7.5 MHz transducer. We evaluated the size and echogenicity of the epididymis, the presence of extratesticular solid mass or cyst, testicular involvement by extratesticular diseases, calcification, hydrocele and scrotal wall thickening. The most common cause of acute scrotal disorders was acute epididymitis (n= 50), followed by acute epididymo-orchitis (n = 4), mumps epididymo-orchitis (n = 2), enlarged epididymis secondary to testicular torsion (n = 2), infected hydrocele (n = 2), epididymal cyst (n = 2), rupture of varicocele (n = 1), angioneurotic edema (n = 1), and sperm granuloma (n = 1). Hydrocele was seen in 20 cases, and epididymal calcification was noted in 6 cases. Emergent scrotal sonography was useful for correct diagnosis and proper treatment in patients with acute scrotal disorders, especially in the differentiation of the acute epididymitis from other intrascrotal diseases

  1. 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.

  2. Sleep Disorders as a Cause of Motor Vehicle Collisions

    Science.gov (United States)

    de Mello, Marco Túlio; Narciso, Fernanda Veruska; Tufik, Sergio; Paiva, Teresa; Spence, David Warren; BaHammam, Ahmed S.; Verster, Joris C.; Pandi-Perumal, Seithikurippu R.

    2013-01-01

    Studies have shown that a large proportion of traffic accidents around the world are related to inadequate or disordered sleep. Recent surveys have linked driver fatigue to 16% to 20% of serious highway accidents in the UK, Australia, and Brazil. Fatigue as a result of sleep disorders (especially obstructive sleep apnea), excessive workload and lack of physical and mental rest, have been shown to be major contributing factors in motor vehicle accidents. A number of behavioral, physiological, and psychometric tests are being used increasingly to evaluate the impact of fatigue on driver performance. These include the oculography, polysomnography, actigraphy, the maintenance of wakefulness test, and others. Various strategies have been proposed for preventing or reducing the impact of fatigue on motor vehicle accidents. These have included: Educational programs emphasizing the importance of restorative sleep and the need for drivers to recognize the presence of fatigue symptoms, and to determine when to stop to sleep; The use of exercise to increase alertness and to promote restorative sleep; The use of substances or drugs to promote sleep or alertness (i.e. caffeine, modafinil, melatonin and others), as well as specific sleep disorders treatment; The use of CPAP therapy for reducing excessive sleepiness among drivers who have been diagnosed with obstructive sleep apnea. The evidence cited in this review justifies the call for all efforts to be undertaken that may increase awareness of inadequate sleep as a cause of traffic accidents. It is strongly recommended that, for the purpose of promoting highway safety and saving lives, all disorders that cause excessive sleepiness should be investigated and monitored. PMID:23626880

  3. Sleep disorders as a cause of motor vehicle collisions

    Directory of Open Access Journals (Sweden)

    Marco Túlio de Mello

    2013-01-01

    Full Text Available Studies have shown that a large proportion of traffic accidents around the world are related to inadequate or disordered sleep. Recent surveys have linked driver fatigue to 16% to 20% of serious highway accidents in the UK, Australia, and Brazil. Fatigue as a result of sleep disorders (especially obstructive sleep apnea, excessive workload and lack of physical and mental rest, have been shown to be major contributing factors in motor vehicle accidents. A number of behavioral, physiological, and psychometric tests are being used increasingly to evaluate the impact of fatigue on driver performance. These include the oculography, polysomnography, actigraphy, the maintenance of wakefulness test, and others. Various strategies have been proposed for preventing or reducing the impact of fatigue on motor vehicle accidents. These have included: Educational programs emphasizing the importance of restorative sleep and the need for drivers to recognize the presence of fatigue symptoms, and to determine when to stop to sleep; The use of exercise to increase alertness and to promote restorative sleep; The use of substances or drugs to promote sleep or alertness (i.e. caffeine, modafinil, melatonin and others, as well as specific sleep disorders treatment; The use of CPAP therapy for reducing excessive sleepiness among drivers who have been diagnosed with obstructive sleep apnea. The evidence cited in this review justifies the call for all efforts to be undertaken that may increase awareness of inadequate sleep as a cause of traffic accidents. It is strongly recommended that, for the purpose of promoting highway safety and saving lives, all disorders that cause excessive sleepiness should be investigated and monitored.

  4. 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), major inhibitory and excitatory 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

  5. Sleep disorders in Parkinson's disease: many causes, few therapeutic options.

    Science.gov (United States)

    Diederich, Nico J; McIntyre, Deborah J

    2012-03-15

    Sleep symptoms in Parkinson's disease (PD) are frequent and have multifactorial and multilayered causes. Primary involvement of sleep/wake regulating centers in the brainstem, sleep problems caused by the nocturnal manifestation of motor and dysautonomic signs and medication-induced sleep problems are often impossible to disentangle in the individual patient. Two syndromes, hypersomnia and REM sleep behavior disorder (RBD), are increasingly recognized as harbingers of the core PD motor syndrome. RBD, associated with a panoply of other nonmotor symptoms, may predispose to a specific PD phenotype. Long-acting dopaminergic stimulation, when abating nocturnal akinesia, also improves subjective sleep quantity. While this strategy is backed up by several randomized controlled trials (RCT), other treatment recommendations are mostly based on case series or expert opinion. Thus we identified only two other RCT, one treating insomnia with eszopiclone, the other nocturnal behavioral abnormalities in demented PD patients with memantine. While the causal complexity of sleep problems in PD certainly hampers the design of therapeutic studies, multiple general treatment strategies against sleep disorders can however be applied efficiently in PD patients as well. Copyright © 2011 Elsevier B.V. All rights reserved.

  6. Mitochondrial disorder caused Charles Darwin's cyclic vomiting syndrome

    Directory of Open Access Journals (Sweden)

    Finsterer J

    2014-01-01

    Full Text Available Josef Finsterer,1 John Hayman21Krankenanstalt Rudolfstiftng, Vienna, Austria; 2Department of Pathology, University of Melbourne, Victoria, AustraliaBackground: Charles Darwin (CD, “father of modern biology,” suffered from multisystem illness from early adulthood. The most disabling manifestation was cyclic vomiting syndrome (CVS. This study aims at finding the possible cause of CVS in CD.Methods: A literature search using the PubMed database was carried out, and CD's complaints, as reported in his personal writings and those of his relatives, friends, colleagues, biographers, were compared with various manifestations of mitochondrial disorders (MIDs, known to cause CVS, described in the literature.Results: Organ tissues involved in CD's disease were brain, nerves, muscles, vestibular apparatus, heart, gut, and skin. Cerebral manifestations included episodic headache, visual disturbance, episodic memory loss, periodic paralysis, hysterical crying, panic attacks, and episodes of depression. Manifestations of polyneuropathy included numbness, paresthesias, increased sweating, temperature sensitivity, and arterial hypotension. Muscular manifestations included periods of exhaustion, easy fatigability, myalgia, and muscle twitching. Cardiac manifestations included episodes of palpitations and chest pain. Gastrointestinal manifestations were CVS, dental problems, abnormal seasickness, eructation, belching, and flatulence. Dermatological manifestations included painful lips, dermatitis, eczema, and facial edema. Treatments with beneficial effects to his complaints were rest, relaxation, heat, and hydrotherapy.Conclusion: CVS in CD was most likely due to a multisystem, nonsyndromic MID. This diagnosis is based upon the multisystem nature of his disease, the fact that CVS is most frequently the manifestation of a MID, the family history, the variable phenotypic expression between affected family members, the fact that symptoms were triggered by stress

  7. Temporomandibular Joint Disorders as a Cause of Aural Fullness.

    Science.gov (United States)

    Peng, Yongxin

    2017-09-01

    Temporomandibular joint disorders (TMD) are often associated with aural manifestations. However, it is not clear whether aural fullness could be induced by TMD. The purpose was to investigate the TMD and effectiveness of TMD treatments in patients with mainly or exclusively aural fullness complaint. One hundred and twelve patients, who had aural fullness as the main or sole complaint, presented to the Otolaryngology Department, PLA Army General Hospital, Beijing, China, between January 2010 and January 2015. Patients' medical history indicated that they had previously been diagnosed and treated for otitis media or sensorineural hearing loss but without positive results. Patients were subjected to pure tone audiometry and acoustic immittance screening using GSI-61 clinical audiometer and GSI TympStar middle ear analyzer respectively. Patients were examined by questionnaire, X-ray and/or computed tomography scan of temporomandibular joint. TMD was categorized according to the Research Diagnostic Criteria for Temporomandibular Disorders (RDC/TMD). Patients were then treated for TMD. All the patients showed normal eardrum and type A tympanogram. The patients of 60.7% (68/112) were classified as group I TMD disorders (muscle disorders), 34.8% (39/112) were group II (disc displacements), and 4.5% (5/112) were group III (arthralgia, osteoarthritis, and osteoarthrosis). Aural fullness was completely resolved or significantly improved in 67 and 34 patients respectively following treatments aimed at improving TMD, with a combined effectiveness of 90.2% (101/112). TMD treatments are especially effective (94.1%) in group I TMD. TMD as a potential cause of aural fullness should be considered in otolaryngology practice.

  8. 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.

  9. 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…

  10. Causes and consequences of voice disorders among teachers

    NARCIS (Netherlands)

    L.C. Cantor Cutiva (Lady Catherine)

    2015-01-01

    markdownabstractAbstract Voice disorders are a major problem among teachers. However, the reported prevalence of these disorders have a wide range, and the natural variation of voice disorders among teachers is unknown due to the lack of longitudinal studies. Moreover, there is not a consensus

  11. Association between alcohol and substance use disorders and all-cause and cause-specific mortality in schizophrenia, bipolar disorder, and unipolar depression

    DEFF Research Database (Denmark)

    Hjorthøj, Carsten; Østergaard, Marie Louise Drivsholm; Benros, Michael Eriksen

    2015-01-01

    BACKGROUND: People with severe mental illness have both increased mortality and are more likely to have a substance use disorder. We assessed the association between mortality and lifetime substance use disorder in patients with schizophrenia, bipolar disorder, or unipolar depression. METHODS......: In this prospective, register-based cohort study, we obtained data for all people with schizophrenia, bipolar disorder, or unipolar depression born in Denmark in 1955 or later from linked nationwide registers. We obtained information about treatment for substance use disorders (categorised into treatment for alcohol......, cannabis, or hard drug misuse), date of death, primary cause of death, and education level. We calculated hazard ratios (HRs) for all-cause mortality and subhazard ratios (SHRs) for cause-specific mortality associated with substance use disorder of alcohol, cannabis, or hard drugs. We calculated...

  12. Myeloproliferative disorders: complications, survival and causes of death.

    Science.gov (United States)

    Brodmann, S; Passweg, J R; Gratwohl, A; Tichelli, A; Skoda, R C

    2000-06-01

    This retrospective single-center study compared thromboembolic and hemorrhagic complications, survival and causes of death in a cohort of 102 consecutive patients with myeloproliferative disorders (MPD). We included 17 patients with essential thrombocythemia (ET), 59 with polycythemia vera (PV), and 26 with osteomyelofibrosis (OMF). The median follow-up was 3.7 years. Estimated 8-year probability of complications for the entire cohort was 80 +/- 11% (95% confidence interval), without significant differences among MPD subgroups. The rate of thromboembolic complications, expressed as the number of events per 100 patient years, was 16.7 for patients with PV, 13.8 for OMF, and 7.5 for ET. Fifty-four percent of thromboembolic events in PV involved cerebral or limb arteries. The rate of bleeding complications was highest in patients with OMF (31.8 per 100 patient years), followed by ET and PV (11.8). Ninety percent of bleeding episodes affected the skin. mucosal membranes, and the gastrointestinal tract. Eight-year survival was highest in ET with 91 +/- 17%, followed by PV (66 +/- 18%) and OMF (40 +/- 31%) (P< 0.01). Twenty-four patients died during the observation period, and fatal thrombosis (in five patients) represented the leading cause of death. Only two patients with MPD died from fatal hemorrhage and one from acute leukemia. We conclude that survival is highest in ET and lowest in OMF. Both thromboembolic and hemorrhagic complications are frequent. However, thrombosis appears to be more often fatal than bleeding complications. Prophylaxis of thromboembolic events remains a key issue in the management of MPD.

  13. Biological determinism and neuroscience in the case of attention deficit disorder with hyperactivity

    National Research Council Canada - National Science Library

    Fabiola Stolf Brzozowski; Sandra Caponi

    2012-01-01

    ... disorder with hyperactivity (ADHD). The reductionism to which we refer, also called biological or neurogenetic determinism, the question of neuroscience, is the epistemological, ie one that tries to explain a complex problem for only...

  14. Causes of Speech Disorders in Primary School Students of Zahedan

    OpenAIRE

    Saeed Fakhrerahimi; Ali Dehghan; Nour-Mohammad Bakhshani

    2013-01-01

    Background: Since making communication with others is the most important function of speech, undoubtedly, any type of disorder in speech will affect the human communicability with others. The objective of the study was to investigate reasons behind the [high] prevalence rate of stammer, producing disorders and aglossia.Materials and Methods: This descriptive-analytical study was conducted on 118 male and female students, who were studying in a primary school in Zahedan; they had referred to t...

  15. [An inherited hemostatic disorder as the cause of menorrhagia

    NARCIS (Netherlands)

    Leebeek, F.W.; Lotgering, F.K.

    2002-01-01

    Two women aged 39 and 30 years were investigated for possible coagulation disorders because of menorrhagia, anaemia and postoperative haemorrhages. These investigations revealed that they had type 1 Von Willebrand's disease. During the treatment with desmopressin, factor VIII and Von Willebrand

  16. Temporomandibular Joint Disorders as a Cause of Aural Fullness

    OpenAIRE

    Peng, Yongxin

    2017-01-01

    Objectives Temporomandibular joint disorders (TMD) are often associated with aural manifestations. However, it is not clear whether aural fullness could be induced by TMD. The purpose was to investigate the TMD and effectiveness of TMD treatments in patients with mainly or exclusively aural fullness complaint. Methods One hundred and twelve patients, who had aural fullness as the main or sole complaint, presented to the Otolaryngology Department, PLA Army General Hospital, Beijing, China, bet...

  17. Sleep disorders in children beginning school: their causes and effects.

    Science.gov (United States)

    Lehmkuhl, Gerd; Fricke-Oerkermann, Leonie; Wiater, Alfred; Mitschke, Alexander

    2008-11-01

    Sleep disorders are a common problem among children beginning school and may be associated both with impaired school performance and with behavioral difficulties. Because these disorders manifest themselves highly variably among children of any given age, and even in an individual affected child, they need an appropriate diagnostic evaluation so that the many environmental and background factors that may be relevant to the further course of the problem can be assessed. Extensive data were obtained on approximately 1400 children who were tested before beginning school in 2005 by means of a special sleep questionnaire and another screening instrument that is used to assess behavioral strengths and difficulties (the SDQ, Strengths and Difficulties Questionnaire). Five percent of the children were found to have difficulty falling asleep, difficulty staying asleep, or nocturnal awakening. Less frequent problems included parasomnias such as pavor nocturnus (0.5%), sleepwalking (0.1%), and frequent nightmares (1.7%). Sleep disorders increase the risk of daytime fatigue and of psychological problems in general, including both hyperactivity and excessive emotional stress. These results imply that sleep problems and emotional disturbances are intimately connected and underscore the importance of diagnosing sleep problems in young children.

  18. Respiratory manifestations of panic disorder: causes, consequences and therapeutic implications.

    Science.gov (United States)

    Sardinha, Aline; Freire, Rafael Christophe da Rocha; Zin, Walter Araújo; Nardi, Antonio Egidio

    2009-07-01

    Multiple respiratory abnormalities can be found in anxiety disorders, especially in panic disorder (PD). Individuals with PD experience unexpected panic attacks, characterized by anxiety and fear, resulting in a number of autonomic and respiratory symptoms. Respiratory stimulation is a common event during panic attacks. The respiratory abnormality most often reported in PD patients is increased CO2 sensitivity, which has given rise to the hypothesis of fundamental abnormalities in the physiological mechanisms that control breathing in PD. There is evidence that PD patients with dominant respiratory symptoms are more sensitive to respiratory tests than are those who do not manifest such symptoms, and that the former group constitutes a distinct subtype. Patients with PD tend to hyperventilate and to panic in response to respiratory stimulants such as CO2, triggering the activation of a hypersensitive fear network. Although respiratory physiology seems to remain normal in these subjects, recent evidence supports the idea that they present subclinical abnormalities in respiration and in other functions related to body homeostasis. The fear network, composed of the hippocampus, the medial prefrontal cortex, the amygdala and its brain stem projections, might be oversensitive in PD patients. This theory might explain why medication and cognitive-behavioral therapy are both clearly effective. Our aim was to review the relationship between respiration and PD, addressing the respiratory subtype of PD and the hyperventilation syndrome, with a focus on respiratory challenge tests, as well as on the current mechanistic concepts and the pharmacological implications of this relationship.

  19. Blau syndrome and related genetic disorders causing childhood arthritis.

    Science.gov (United States)

    Becker, Mara L; Rose, Carlos D

    2005-12-01

    Blau Syndrome (BS) is an inheritable disorder characterized by granulomatous polyarthritis, panuveitis, and exanthema. It was described by Edward Blau in 1985, the same year in which Douglas Jabs reported a very similar family. Clinically indistinguishable from early onset sarcoidosis (EOS), both are now known to share a mutated form of caspase recruitment domain-15 (CARD 15), a protein involved in activation of nuclear factor kappa B which is in turn an up-regulator of pro-inflammatory cytokine transcription. An association between BS and EOS was suspected for years given the striking similarities of the core triad (arthritis-uveitis-dermatitis) and a common emerging pattern of systemic involvement. Hence, the familial form (BS) and the sporadic form (EOS) are almost certainly the same illness/defect, inherited in the first and acquired in the second as a result in most cases of a de novo mutation. Another form of granulomatous arthritis with uveitis, Crohn's disease, has also been associated with mutations in CARD 15 (albeit at a different domain) and despite similar phenotypes there are obvious differences including gut inflammation and pyoderma gangrenosum in Crohn's disease. This paper will review the clinical characteristics of these three disorders and their association with mutations in the CARD 15 gene.

  20. [Most common skin disorders caused by excessive exposure to sunlight].

    Science.gov (United States)

    Zitás, Éva; Mészáros, Judit

    2016-01-17

    The healing properties of sunlight has been known for millennia, however the gradual deterioration of the ozone layer and the increased use of sun tanning beds in recent decades are causing an increase in skin damaging ultraviolet exposure. In this article the most common photodermatoses and the principles of their treatments are reviewed.

  1. [New causes of microcytic anaemia: hereditary disorders of iron homeostasis].

    Science.gov (United States)

    van Rooijen, Karlijn L; Raymakers, Reinier A P; Cuijpers, Marloes L H; Brons, Paul P T; Janssen, Mirian C H; Swinkels, Dorine W

    2010-01-01

    Recently various new gene defects have been identified which explain some previously unknown causes of inherited microcytic anaemias. These defects are located in genes that encode for the cellular iron importing protein Divalent Metal Transporter 1 (DMT1), the iron exporting protein ferroportin, the mitochondrial enzyme glutaredoxin-5 and the hepatocyte membrane protein matriptase-2.

  2. Association between low height and eating disorders: cause or effect?

    Science.gov (United States)

    Favaro, Angela; Tenconi, Elena; Degortes, Daniela; Soave, Manuela; Zanetti, Tatiana; Nardi, Maria T; Caregaro, Lorenza; Santonastaso, Paolo

    2007-09-01

    Few studies have explored the relationship between stature and eating disorders (ED). We aimed to investigate the connection between height and risk for ED in a cohort of female subjects. The sample was composed of 1,031 subjects with ED and 832 controls. All participants belonged to the same birth cohort and were living in the same geographical area. ED subjects were, on average, shorter than control subjects, independently from the age of onset. In early-onset anorexia nervosa only, age of onset and lowest body mass index were significant predictors of height. In the whole sample, a lower height was associated with an increased risk of having an ED, even after controlling for possible confounding variables. The association between EDs and low stature is statistically significant. Further studies are necessary to understand which genetic and/or environmental factors might explain this association. (c) 2007 by Wiley Periodicals, Inc.

  3. Does Internalizing Society and Media Messages Cause Body Dissatisfaction, in Turn Causing Disordered Eating?

    Science.gov (United States)

    Dye, Heather

    2016-01-01

    The purpose of this study was to examine the predictive influence that internalization of society and media messages has on body dissatisfaction, as well as the prediction influence that body dissatisfaction has on disordered eating behaviors, such as preoccupation with weight, dieting, and eating restraint. A total of 324 participants completed the demographic questionnaire, the Multidimensional Body Self Relations Questionnaire (Cash, 2001 ), the Sociocultural Attitudes Towards Appearance Questionnaire (Heinberg, Thompson, & Stormer, 1995 ) for women, and the Sociocultural Attitudes Towards Appearance Questionnaire-Revised-Male-Version (Cusumano & Thompson, 1997 ) for men, and the locus of control (Rotter, 1966 ). The results of this study found that high internalization leads to body dissatisfaction, in turn, leading to disordered eating behaviors, such as preoccupation with weight, dieting, and eating restraint. This study proposes the implementation of media literacy and education programs that teach college women and men, girls and boys, to think more critically about the media.

  4. Neuro-genetic optimization of temperature control for a continuous flow polymerase chain reaction microdevice.

    Science.gov (United States)

    Lee, Hing Wah; Arunasalam, Parthiban; Laratta, William P; Seetharamu, Kankanhalli N; Azid, Ishak A

    2007-08-01

    In this study, a hybridized neuro-genetic optimization methodology realized by embedding finite element analysis (FEA) trained artificial neural networks (ANN) into genetic algorithms (GA), is used to optimize temperature control in a ceramic based continuous flow polymerase chain reaction (CPCR) device. The CPCR device requires three thermally isolated reaction zones of 94 degrees C, 65 degrees C, and 72 degrees C for the denaturing, annealing, and extension processes, respectively, to complete a cycle of polymerase chain reaction. The most important aspect of temperature control in the CPCR is to maintain temperature distribution at each reaction zone with a precision of +/-1 degree C or better, irrespective of changing ambient conditions. Results obtained from the FEA simulation shows good comparison with published experimental work for the temperature control in each reaction zone of the microfluidic channels. The simulation data are then used to train the ANN to predict the temperature distribution of the microfluidic channel for various heater input power and fluid flow rate. Once trained, the ANN analysis is able to predict the temperature distribution in the microchannel in less than 20 min, whereas the FEA simulation takes approximately 7 h to do so. The final optimization of temperature control in the CPCR device is achieved by embedding the trained ANN results as a fitness function into GA. Finally, the GA optimized results are used to build a new FEA model for numerical simulation analysis. The simulation results for the neuro-genetic optimized CPCR model and the initial CPCR model are then compared. The neuro-genetic optimized model shows a significant improvement from the initial model, establishing the optimization method's superiority.

  5. Epigenetic mechanisms underlying the pathogenesis of neurogenetic diseases.

    Science.gov (United States)

    Qureshi, Irfan A; Mehler, Mark F

    2014-10-01

    There have been considerable advances in uncovering the complex genetic mechanisms that underlie nervous system disease pathogenesis, particularly with the advent of exome and whole genome sequencing techniques. The emerging field of epigenetics is also providing further insights into these mechanisms. Here, we discuss our understanding of the interplay that exists between genetic and epigenetic mechanisms in these disorders, highlighting the nascent field of epigenetic epidemiology-which focuses on analyzing relationships between the epigenome and environmental exposures, development and aging, other health-related phenotypes, and disease states-and next-generation research tools (i.e., those leveraging synthetic and chemical biology and optogenetics) for examining precisely how epigenetic modifications at specific genomic sites affect disease processes.

  6. A Review on Stuttering and Social Anxiety Disorder in Children: Possible Causes and Therapies/Treatments

    OpenAIRE

    Nadia Nathania

    2016-01-01

    In the past two decades, stuttering and its relation to social anxiety disorder have been researched using different approaches in study fields such as neurolinguistics and neuropsychology. This paper presents a review of research publications about social anxiety disorder in children who stutter. It takes into account studies of stuttering, social anxiety disorders, the possible causes as well as atti-tudes and beliefs towards stuttering. Also, therapies or treatments that have been conducte...

  7. Myelodysplastic Syndromes (MDS) and autoimmune disorders (AD): cause or consequence?

    Science.gov (United States)

    Braun, Thorsten; Fenaux, Pierre

    2013-12-01

    Myelodysplastic Syndromes (MDS) and Chronic Myelomonocytic Leukemia (CMML) are frequently associated with clinical manifestations of autoimmune disorders (AD) and inflammatory response of the immune system. AD accompanying MDS and CMML include vasculitis, seronegative polyarthritis and neutrophilic dermatosis. Rare AD including relapsing polychondritis is strongly associated with MDS as in a high proportion of those patients MDS is diagnosed during disease course. Antinuclear antibodies (ANA) are frequently found among MDS patients without clinical manifestation of AD. In a subset of patients, MDS and resulting cytopenias appear to be the consequence of auto reactive immunologic activity and may respond to immunosuppressive treatment (IST). Increased release of inflammatory cytokines like tumor necrosis factor-(TNF)-α and interferon (IF)-γ triggers apoptosis of myeloid precursor cells leading to cytopenias. Impaired function of immune cells including cytotoxic, regulatory (Treg), helper (Th17) T cells and NK cells also appears to predict response to IST, outcome and occurrence of AD. Copyright © 2013 Elsevier Ltd. All rights reserved.

  8. Complex seizure disorder caused by Brunol4 deficiency in mice.

    Directory of Open Access Journals (Sweden)

    Yan Yang

    2007-07-01

    Full Text Available Idiopathic epilepsy is a common human disorder with a strong genetic component, usually exhibiting complex inheritance. We describe a new mouse mutation in C57BL/6J mice, called frequent-flyer (Ff, in which disruption of the gene encoding RNA-binding protein Bruno-like 4 (Brunol4 leads to limbic and severe tonic-clonic seizures in heterozygous mutants beginning in their third month. Younger heterozygous adults have a reduced seizure threshold. Although homozygotes do not survive well on the C57BL/6J background, on mixed backgrounds homozygotes and some heterozygotes also display spike-wave discharges, the electroencephalographic manifestation of absence epilepsy. Brunol4 is widely expressed in the brain with enrichment in the hippocampus. Gene expression profiling and subsequent analysis revealed the down-regulation of at least four RNA molecules encoding proteins known to be involved in neuroexcitability, particularly in mutant hippocampus. Genetic and phenotypic assessment suggests that Brunol4 deficiency in mice results in a complex seizure phenotype, likely due to the coordinate dysregulation of several molecules, providing a unique new animal model of epilepsy that mimics the complex genetic architecture of common disease.

  9. Fishing for causes and cures of motor neuron disorders

    Directory of Open Access Journals (Sweden)

    Shunmoogum A. Patten

    2014-07-01

    Full Text Available Motor neuron disorders (MNDs are a clinically heterogeneous group of neurological diseases characterized by progressive degeneration of motor neurons, and share some common pathological pathways. Despite remarkable advances in our understanding of these diseases, no curative treatment for MNDs exists. To better understand the pathogenesis of MNDs and to help develop new treatments, the establishment of animal models that can be studied efficiently and thoroughly is paramount. The zebrafish (Danio rerio is increasingly becoming a valuable model for studying human diseases and in screening for potential therapeutics. In this Review, we highlight recent progress in using zebrafish to study the pathology of the most common MNDs: spinal muscular atrophy (SMA, amyotrophic lateral sclerosis (ALS and hereditary spastic paraplegia (HSP. These studies indicate the power of zebrafish as a model to study the consequences of disease-related genes, because zebrafish homologues of human genes have conserved functions with respect to the aetiology of MNDs. Zebrafish also complement other animal models for the study of pathological mechanisms of MNDs and are particularly advantageous for the screening of compounds with therapeutic potential. We present an overview of their potential usefulness in MND drug discovery, which is just beginning and holds much promise for future therapeutic development.

  10. Pisotriquetral joint disorders: an under-recognized cause of ulnar side wrist pain

    Energy Technology Data Exchange (ETDEWEB)

    Moraux, A. [Hopital Roger Salengro, Service d' Imagerie Musculo-Squelettique, Centre de Consultation de l' Appareil Locomoteur, CHRU Lille (France); Imagerie Medicale Jacquemars Gielee, Lille (France); Lefebvre, G.; Pansini, V.; Aucourt, J.; Vandenbussche, L.; Cotten, A. [Hopital Roger Salengro, Service d' Imagerie Musculo-Squelettique, Centre de Consultation de l' Appareil Locomoteur, CHRU Lille (France); Demondion, X. [Hopital Roger Salengro, Service d' Imagerie Musculo-Squelettique, Centre de Consultation de l' Appareil Locomoteur, CHRU Lille (France); Pole Recherche Faculte de Medecine de Lille, Laboratoire d' Anatomie, Lille (France)

    2014-06-15

    Pisotriquetral joint disorders are often under-recognized in routine clinical practice. They nevertheless represent a significant cause of ulnar side wrist pain. The aim of this article is to present the main disorders of this joint and discuss the different imaging modalities that can be useful for its assessment. (orig.)

  11. Advances in genetic diagnosis of neurological disorders.

    Science.gov (United States)

    Toft, M

    2014-01-01

    Neurogenetics has developed enormously in recent years, and the genetic basis of human disorders is being unravelled rapidly. Many neurological disorders are Mendelian disorders, caused by mutations in genes involved in normal function of the brain, spinal cord, peripheral nerves or muscles. Due to high costs and time-consuming procedures, genetic tests have normally been performed late in the diagnostic process, when clinical examination and other tests have indicated a specific gene as the likely disease cause. Many neurological phenotypes are genetically very heterogeneous, and testing of all possible disease genes has been impossible. As a result, many patients with genetic neurological disorders have remained without a specific diagnosis, even when the disease is caused by mutations in known disease genes. Recent technological advances, in particular next-generation DNA sequencing techniques, have resulted in rapid identification of genes involved in Mendelian disorders and provided new possibilities for diagnostic genetic testing. The development of methods for coupling targeted capture and massively parallel DNA sequencing has made it possible to examine a large number of genes in a single reaction. Diagnostic genetic testing can today be performed by the use of gene panels and exome sequencing. This allows a more precise diagnosis of many neurological disorders, and genetic testing should now be considered earlier in the diagnostic procedure. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  12. [ANXIETY AND DEPRESSIVE DISORDERS IN FUNCTIONAL DYSPEPSIA: CAUSE OR CONSEQUENCE?].

    Science.gov (United States)

    Kugler, T E

    2015-01-01

    The aim of this study was to evaluate the frequency and importance of anxiety and depression in patients with functional dyspepsia (FD), the relationship between these psychological characteristics, symptom severity and the quality of life. We performed a cross-sectional study. 125 patients with FD according to the Rome criteria ill, as well as a control group of 30 healthy volunteers were investigated. All study participants filled out a scale to identify HADS anxiety-depressive disorder, an overall assessment of the quality of life, using a questionnaire SF-8 (standard 4-week form). FD patients were asked to rate the severity of epigastric pain (burning) or abdominal discomfort (early satiation or postprandial fullness) with LPDS scale (Leuven postprandial distress scale). All statistical analyzes were performed in the Medstat program. The results obtained with p Anxiety and depression were observed in 50.4% and 42.4% of FD patients, respectively, and in 13.3% and 6.66% of healthy subjects, respectively (p anxiety and depression in lBS patients were 7.93 ± 3.75 and 6.94 ± 3.78, respectively. Both anxiety and depression were associated with self-reported symptom severity (LPDS) (p anxiety and depression. Self-reported symptom severity, anxiety and depression were clearly and independently associated with the overall health-related quality of life (HRQOL). Biopsychosocial model of FD explained the difficulties of the pathogenesis of this disease. Anxiety and de- pression were frequently observed in FD patients and were related to the severity of their symptoms and the impairment of the patient's HRQOL. Our data suggest that assessing anxiety and depression is important when evaluating FD patients.

  13. Neurogenetics of acute and chronic opiate/opioid abstinence: treating symptoms and the cause.

    Science.gov (United States)

    Blum, Kenneth; Gold, Mark S; Jacobs, William; McCall, William Vaughn; Febo, Marcelo; Baron, David; Dushaj, Kristina; Demetrovics, Zsolt; Badgaiyan, Rajendra D

    2017-03-01

    This review begins with a comprehensive history of opioid dependence and treatment in the United States. The focus is an evidence-based treatment model for opioid/opiate dependent individuals. The role of reward genetic polymorphisms and the epigenetic modifications that lead to vulnerability to use and misuse of opiates/opioid to treat pain are reviewed. The neurochemical mechanisms of acute opiate withdrawal and opiate/opioid reward mechanisms are explored with a goal of identifying specific treatment targets. Alterations in functional brain connectivity based on neurobiological mechanisms in heroin dependence and abstinence are also reviewed. A new clinical model an alternative to merely blocking acute withdrawal symptoms as identified in the DSM -5 is proposed. Genetic diagnosis at the onset of detoxification, to determine risk stratification, and identify polymorphic gene targets for pharmaceutical and nutraceutical interventions, followed by the simultaneous initiation of Medication Assisted Therapy (MAT), to enable psychological extinction, and steady pro-dopaminergic therapy with the goal of developing "dopamine homeostasis" is recommended. The objective of these interventions is to prevent future relapse by treating all "Reward Deficiency Syndrome" (RDS) behaviors and eventually make an addiction-free life possible.

  14. An object-oriented Bayesian network modeling the causes of leg disorders in finisher herds

    DEFF Research Database (Denmark)

    Jensen, Tina Birk; Kristensen, Anders Ringgaard; Toft, Niels

    2009-01-01

    The implementation of an effective control strategy against disease in a finisher herd requires knowledge regarding the disease level in the herd. A Bayesian network was constructed that can estimate risk indexes for three cause-categories of leg disorders in a finisher herd. The cause-categories......The implementation of an effective control strategy against disease in a finisher herd requires knowledge regarding the disease level in the herd. A Bayesian network was constructed that can estimate risk indexes for three cause-categories of leg disorders in a finisher herd. The cause...... of performing systematic collection of additional information (i.e. clinical, pathological and bacteriological examination) when identifying causes of leg disorders at herd level....

  15. Red cell glycolytic enzyme disorders caused by mutations: an update.

    Science.gov (United States)

    Climent, Fernando; Roset, Feliu; Repiso, Ada; Pérez de la Ossa, Pablo

    2009-06-01

    Glycolysis is one of the principle pathways of ATP generation in cells and is present in all cell tissues; in erythrocytes, glycolysis is the only pathway for ATP synthesis since mature red cells lack the internal structures necessary to produce the energy vital for life. Red cell deficiencies have been detected in all erythrocyte glycolytic pathways, although their frequencies differ owing to diverse causes, such as the affected enzyme and severity of clinical manifestations. The number of enzyme deficiencies known is endless. The most frequent glycolysis abnormality is pyruvate kinase deficiency, since around 500 cases are known, the first of which was reported in 1961. However, only approximately 200 cases were due to mutations. In contrast, only one case of phosphoglycerate mutase BB type mutation, described in 2003, has been detected. Most mutations are located in the coding sequences of genes, while others, missense, deletions, insertions, splice defects, premature stop codons and promoter mutations, are also frequent. Understanding of the crystal structure of enzymes permits molecular modelling studies which, in turn, reveal how mutations can affect enzyme structure and function.

  16. Damage Identification of Urban Overpass Based on Hybrid Neurogenetic Algorithm Using Static and Dynamic Properties

    Directory of Open Access Journals (Sweden)

    Hanbing Liu

    2015-01-01

    Full Text Available Urban overpass is an important component of transportation system. Health condition of overpass is essential to guarantee the safe operation of urban traffic. Therefore, damage identification of urban overpass possesses important practical significance. In this paper, finite element model of left auxiliary bridge of Qianjin Overpass is constructed and vulnerable sections of structure are chosen as objects for damage recognition. Considering the asymmetry of Qianjin bridge, change rate of modal frequency and strain ratio are selected as input parameters for hybrid neurogenetic algorithm, respectively. Identification effects of damage location and severity are investigated and discussed. The results reveal that the proposed method can successfully identify locations and severities with single and multiple damage locations; its interpolation ability is better than extrapolation ability. Comparative analysis with BP neural network is conducted and reveals that the damage identification accuracy of hybrid neurogenetic algorithm is superior to BP. The effectiveness between dynamic and static properties as input variable is also analyzed. It indicates that the identification effect of strain ratios is more satisfactory than frequency ratio.

  17. 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.

  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. Role of psychological trauma in the cause and treatment of anxiety and depressive disorders.

    Science.gov (United States)

    Laugharne, Jonathan; Lillee, Alyssa; Janca, Aleksandar

    2010-01-01

    The role of traumatic events in the development of post-traumatic stress disorder is well established but their importance in the other anxiety disorders and in depression is less clear. We have reviewed recent publications in the medical literature which add to current knowledge regarding the possible causative role of trauma and the efficacy of trauma-focused treatments in these disorders. A number of recent studies add further support to the notion that traumatic events increase vulnerability to a range of psychiatric disorders. Furthermore, pretrauma risk factors are shared across different anxiety and depressive disorders. Patients with partial rather than full post-traumatic stress disorder often have their post-traumatic symptoms subsumed within another anxiety or depressive diagnosis. There is very little data relating to trauma-focused treatment of disorders other than post-traumatic stress disorder. There is increasing evidence that clinicians should be cognizant of the possible role of traumatic experience in the cause of patients with diagnoses other than post-traumatic stress disorder. There is, however, a paucity of data for the efficacy of trauma-focused psychological interventions for disorders other than post-traumatic stress disorder and further research is therefore needed.

  20. Causes of decreased life expectancy over the life span in bipolar disorder

    DEFF Research Database (Denmark)

    Kessing, Lars Vedel; Vradi, Eleni; McIntyre, Roger S

    2015-01-01

    BACKGROUND: Accelerated aging has been proposed as a mechanism explaining the increased prevalence of comorbid general medical illnesses in bipolar disorder. AIMS: To test the hypothesis that lost life years due to natural causes starts in early and mid-adulthood, supporting the hypothesis...... of accelerated aging. METHODS: Using individual data from nationwide registers of patient with a diagnosis of bipolar disorder we calculated remaining life expectancies before age 90 years for values of age 15, 25, 35…75 years among all individuals alive in year 2000. Further, we estimated the reduction in life......, remaining life expectancy before age 90 years was decreased 12.7 and 8.9 life years, respectively, for men and women with bipolar disorder. For 15-year old boys with bipolar disorder, natural causes accounted for 58% of all lost life years and for 15-year old girls, natural causes accounted for 67...

  1. Persistent Genital Arousal Disorder Caused by Spinal Meningeal Cysts in the Sacrum: Successful Neurosurgical Treatment.

    Science.gov (United States)

    Feigenbaum, Frank; Boone, Kaitlynn

    2015-10-01

    To evaluate whether treatment of spinal meningeal cysts that compress sacral spinal nerve roots is associated with relief of persistent genital arousal disorder. In this case series we encountered a group of patients with persistent genital arousal disorder among a larger cohort undergoing a prospective outcomes study on the surgical treatment of symptomatic spinal meningeal cysts. Epidemiologic data were collected and the type, number, and location of the meningeal cysts in each patient were determined on magnetic resonance imaging. Postoperatively patients were asked to self-report whether their persistent genital arousal disorder was eliminated, significantly better, the same, or worse. In a cohort of 1,045 patients with symptomatic spinal meningeal cysts, we identified 11 with persistent genital arousal disorder; all were female and all had meningeal cysts in the sacral spinal canal causing sacral nerve root compression. In addition to persistent genital arousal disorder, all patients had other symptoms typical of sacral nerve root compression such as perineal, bladder, and bowel symptoms. Although multiple types of meningeal cysts were encountered, Tarlov cysts were the most common (8/11). Postoperatively, seven (64%) patients reported elimination of their persistent genital arousal disorder, three (27%) noted significant improvement, one (9%) said they were unchanged, and none experienced worsening with an average follow-up of 23 months ranging from 2 months to 6 years. Although Tarlov cysts were more numerous, the presence of persistent genital arousal disorder and the surgical outcomes appeared unrelated to the type of spinal meningeal cyst treated. Our case series suggests that sacral nerve root compression caused by spinal meningeal cysts can cause persistent genital arousal disorder. The presence of nerve root compression appears to be more important than the particular type of meningeal cyst involved. Microsurgical cyst treatment cured or significantly

  2. Late-onset Zellweger spectrum disorder caused by PEX6 mutations mimicking X-linked adrenoleukodystrophy.

    Science.gov (United States)

    Tran, Christel; Hewson, Stacy; Steinberg, Steven J; Mercimek-Mahmutoglu, Saadet

    2014-08-01

    Zellweger spectrum disorder is an autosomal recessively inherited multisystem disorder caused by one of the 13 different PEX gene defects resulting in defective peroxisomal assembly and multiple peroxisomal enzyme deficiencies. We report a new patient with late-onset Zellweger spectrum disorder mimicking X-linked adrenoleukodystrophy. This 8.5-year-old boy with normal development until 6.5 years of age presented with bilateral sensorineural hearing loss during a school hearing test. He then developed acute-onset diplopia, clumsiness, and cognitive dysfunction at age 7 years. Magnetic resonance imaging of the brain revealed symmetric leukodystrophy, although without gadolinium enhancement. Elevated plasma very long chain fatty acid levels were suggestive of X-linked adrenoleukodystrophy, but his ABCD1 gene had normal coding sequence and dosage. Additional studies of cultured skin fibroblasts were consistent with Zellweger spectrum disorder. Molecular testing identified disease-causing compound heterozygous mutations in the PEX6 gene supporting the Zellweger spectrum disorder diagnosis in this patient. We describe a new patient with late-onset Zellweger spectrum disorder caused by PEX6 mutations who presented with an acute neurodegenerative disease course mimicking X-linked adrenoleukodystrophy. This finding provides an additional reason that molecular confirmation is important for the genetic counseling and management of patients with a clinical and biochemical diagnosis of X-linked adrenoleukodystrophy. Copyright © 2014 Elsevier Inc. All rights reserved.

  3. A Review on Stuttering and Social Anxiety Disorder in Children: Possible Causes and Therapies/Treatments

    Directory of Open Access Journals (Sweden)

    Nadia Nathania

    2016-12-01

    Full Text Available In the past two decades, stuttering and its relation to social anxiety disorder have been researched using different approaches in study fields such as neurolinguistics and neuropsychology. This paper presents a review of research publications about social anxiety disorder in children who stutter. It takes into account studies of stuttering, social anxiety disorders, the possible causes as well as atti-tudes and beliefs towards stuttering. Also, therapies or treatments that have been conducted on both English-speaking children who stutter in the Western context and Mandarin-speaking children stut-terers in Asia, Taiwan in particular; will be looked at

  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. 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

    2015-12-01

    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. Parents (n = 381) and teachers (n = 204) of school-aged children with one of the four syndromes in the UK and Ireland were surveyed in a range of areas concerning the child's educational provision. Areas surveyed included school placement, views on the needs of children with the syndromes, desired changes to current provision and perceived teacher knowledge. School placement in mainstream settings decreased with age in all of the syndromes. Males with the syndromes were more likely to be in specialised educational settings with the exception of WS. Teachers reported limited input on initial or subsequent training for all of the syndromes. The majority of teachers did not view the needs of children with syndromes as different from other children with intellectual disability (ID) although there were significant differences between the syndromes. Changes deemed necessary to provision by parents and teachers differed between the syndromes indicating the existence of perceptions of syndrome specific needs. The lowest perceived level of teacher knowledge was in the VCFS group. The majority of teachers of children with neurogenetic syndromes report limited knowledge of the syndromes, but also a lack of belief that the children's needs are different from the majority of children with ID. Differences between the syndromes in some areas of provision suggest that a child's syndrome does impact on educational provision in some areas. © 2015 MENCAP and International Association of the Scientific Study of Intellectual and Developmental Disabilities and John Wiley & Sons Ltd.

  6. A brainstem inflammatory lesion causing REM sleep behavior disorder and sleepwalking (parasomnia overlap disorder).

    Science.gov (United States)

    Limousin, Nadège; Dehais, Caroline; Gout, Olivier; Héran, Françoise; Oudiette, Delphine; Arnulf, Isabelle

    2009-10-01

    A 40-year-old woman with no prior parasomnia developed an acute inflammatory rhombencephalitis with multiple cranial nerve palsies and cerebellar ataxia, followed by myelitis 6 months later, and by an intracranial thrombophlebitis 1 month after. Between and after these episodes, she had a persistent, mild right internuclear ophtalmoplegia, a mild cerebellar ataxia, and a severe REM sleep behavior disorder (RBD) lasting for 2 years. She talked, sang and moved nightly while asleep, and injured her son (cosleeping with her) while asleep. In addition, she walked asleep nightly. During video-polysomnography, there were two arousals during slow wave sleep without abnormal behavior, while 44% of REM sleep was without chin muscle atonia with bilateral arm and leg movements. There were small hypointensities in the right pontine tegmentum and in the right dorsal medulla on T1-weighted magnetic resonance imaging, suggesting post-inflammatory lesions that persisted between acute episodes. The RBD and sleepwalking did not improve with clonazepam, but improved with melatonin 9 mg/d. The unilateral small lesion of the pontine tegmentum could be responsible for the parasomnia overlap disorder as in other rare lesional cases.

  7. Cause-specific life-years lost in people with mental disorders

    DEFF Research Database (Denmark)

    Erlangsen, Annette; Andersen, Per Kragh; Toender, Anita

    2017-01-01

    -specific differences between those with and without mental disorders in terms of excess life-years lost were for respiratory diseases (men: 0·9; women: 1·4) and alcohol misuse (men: 2·8; women: 1·2). Between 1995 and 2014, we noted an increase in excess life-years lost for neoplasms (men: 0·7; women: 0·4), heart...... mortality due to medical diseases and disorders among people with mental disorders emphasises the need for future interventions to address these aspects as well as the continued high shares of excess mortality due to alcohol misuse, suicide, and accidents. FUNDING: The Lundbeck Foundation Initiative......BACKGROUND: People with mental disorders have higher mortality rates than the general population and more detailed estimates of mortality differences are needed to address this public health issue. We aimed to assess whether differences in cause-specific mortality between people with and without...

  8. Mental disorder is a cause of crime: the cornerstone of forensic psychiatry.

    Science.gov (United States)

    Anckarsäter, Henrik; Radovic, Susanna; Svennerlind, Christer; Höglund, Pontus; Radovic, Filip

    2009-01-01

    The assumption that mental disorder is a cause of crime is the foundation of forensic psychiatry, but conceptual, epistemological, and empirical analyses show that neither mental nor crime, or the causation implied, are clear-cut concepts. "Mental" denotes heterogeneous aspects of a person such as inner experiences, cognitive abilities, and behaviour patterns described in a non-physical vocabulary. In psychology and psychiatry, mental describes law-bound, caused aspects of human functioning that are predictable and generalizable. Problems defined as mental disorders are end-points of dimensional inter-individual differences rather than natural categories. Deficits in cognitive faculties, such as attention, verbal understanding, impulse control, and reality assessment, may be susceptibility factors that relate to behaviours (such as crimes) by increasing the probability (risk) for a negative behaviour or constitute causes in the sense of INUS conditions (Insufficient but Non-redundant parts of Unnecessary but Sufficient conditions). Attributing causes to complex behaviours such as crimes is not an unbiased process, and mental disorders will attract disproportionate attention when it comes to explanations of behaviours that we wish to distance ourselves from. Only by rigorous interpretation of what psychiatry actually can inform us about, using empirical analyses of quantified aggressive antisocial behaviours and their possible explanatory factors, can we gain a clearer notion of the relationship between mental disorder and crime.

  9. Mortality and Causes of Death in Autism Spectrum Disorders: An Update

    Science.gov (United States)

    Mouridsen, Svend Erik; Bronnum-Hansen, Henrik; Rich, Bente; Isager, Torben

    2008-01-01

    This study compared mortality among Danish citizens with autism spectrum disorders (ASDs) with that of the general population. A clinical cohort of 341 Danish individuals with variants of ASD, previously followed over the period 1960-93, now on average 43 years of age, were updated with respect to mortality and causes of death. Standardized…

  10. Hypothesis: grandiosity and guilt cause paranoia; paranoid schizophrenia is a psychotic mood disorder; a review.

    Science.gov (United States)

    Lake, Charles Raymond

    2008-11-01

    Delusional paranoia has been associated with severe mental illness for over a century. Kraepelin introduced a disorder called "paranoid depression," but "paranoid" became linked to schizophrenia, not to mood disorders. Paranoid remains the most common subtype of schizophrenia, but some of these cases, as Kraepelin initially implied, may be unrecognized psychotic mood disorders, so the relationship of paranoid schizophrenia to psychotic bipolar disorder warrants reevaluation. To address whether paranoia associates more with schizophrenia or mood disorders, a selected literature is reviewed and 11 cases are summarized. Comparative clinical and recent molecular genetic data find phenotypic and genotypic commonalities between patients diagnosed with schizophrenia and psychotic bipolar disorder lending support to the idea that paranoid schizophrenia could be the same disorder as psychotic bipolar disorder. A selected clinical literature finds no symptom, course, or characteristic traditionally considered diagnostic of schizophrenia that cannot be accounted for by psychotic bipolar disorder patients. For example, it is hypothesized here that 2 common mood-based symptoms, grandiosity and guilt, may underlie functional paranoia. Mania explains paranoia when there are grandiose delusions that one's possessions are so valuable that others will kill for them. Similarly, depression explains paranoia when delusional guilt convinces patients that they deserve punishment. In both cases, fear becomes the overwhelming emotion but patient and physician focus on the paranoia rather than on underlying mood symptoms can cause misdiagnoses. This study uses a clinical, case-based, hypothesis generation approach that warrants follow-up with a larger representative sample of psychotic patients followed prospectively to determine the degree to which the clinical course observed herein is typical of all such patients. Differential diagnoses, nomenclature, and treatment implications are

  11. Parental perspectives on the causes of an autism spectrum disorder in their children.

    Science.gov (United States)

    Mercer, L; Creighton, S; Holden, J J A; Lewis, M E S

    2006-02-01

    Autism Spectrum Disorders (ASDs) are complex neurodevelopmental disorders with many biological causes, including genetic, syndromic and environmental. Such etiologic heterogeneity impacts considerably upon parents' needs for understanding their child's diagnosis. A descriptive survey was designed to investigate parental views on the cause(s) of ASD in their child. Among the 41 parents who replied to the questionnaire, genetic influences (90.2%), perinatal factors (68.3%), diet (51.2%), prenatal factors (43.9%) and vaccines (40.0%) were considered to be the most significant contributory factors. Parents reported inaccurately high recurrence risks, misperceptions of the contribution of various putative factors, feelings of guilt and blame regarding their child's diagnosis, as well as a lack of advocacy for genetic counseling by non-geneticist professionals. This study offers clinicians and researchers further insight into what parents believe contributed to their child's diagnosis of ASD and will help facilitate genetic counseling for these families.

  12. Mood, anxiety, and alcohol use disorders and later cause-specific sick leave in young adult employees.

    Science.gov (United States)

    Torvik, Fartein Ask; Reichborn-Kjennerud, Ted; Gjerde, Line C; Knudsen, Gun Peggy; Ystrom, Eivind; Tambs, Kristian; Røysamb, Espen; Østby, Kristian; Ørstavik, Ragnhild

    2016-08-03

    Mental disorders strongly influence work capability in young adults, but it is not clear which disorders that are most strongly associated with sick leave, and which diagnoses that are stated on the sick leave certificates. Better knowledge of the impairments associated with different mental disorders is needed for optimal planning of interventions and prioritization of health services. In the current study, we investigate the prospective associations between eight mood, anxiety, and alcohol use disorders, and later sick leave granted for mental, somatic, or any disorder. Lifetime mental disorders were assessed by structured diagnostic interviews in 2,178 young adults followed for eight years with registry data on sick leave. Relative risk ratios were estimated for the associations between each mental disorder and the different forms of sick leave. All included diagnoses were associated with later sick leave. In adjusted analyses, major depressive disorder and generalized anxiety disorder were the strongest predictors of sick leave granted for mental disorders, whereas social anxiety disorder and specific phobia were the strongest predictors of sick leave granted for somatic disorders. Specific phobia and major depressive disorder had the highest attributable fractions for all-cause sick leave. Mood and anxiety disorders constituted independent risk factors for all cause sick leave, whereas alcohol use disorders seemed to be of less importance in young adulthood. Disorders characterised by distress were most strongly associated with sick leave granted for mental disorders, whereas disorders characterised by fear primarily predicted sick leave granted for somatic conditions. A large part of all sick leave is related to specific phobia, due to the high prevalence of this disorder. The impairment associated with this common disorder may be under-acknowledged, and it could decrease work capacity among individuals with somatic disorders. This disorder has good treatment

  13. Mood, anxiety, and alcohol use disorders and later cause-specific sick leave in young adult employees

    Directory of Open Access Journals (Sweden)

    Fartein Ask Torvik

    2016-08-01

    Full Text Available Abstract Background Mental disorders strongly influence work capability in young adults, but it is not clear which disorders that are most strongly associated with sick leave, and which diagnoses that are stated on the sick leave certificates. Better knowledge of the impairments associated with different mental disorders is needed for optimal planning of interventions and prioritization of health services. In the current study, we investigate the prospective associations between eight mood, anxiety, and alcohol use disorders, and later sick leave granted for mental, somatic, or any disorder. Methods Lifetime mental disorders were assessed by structured diagnostic interviews in 2,178 young adults followed for eight years with registry data on sick leave. Relative risk ratios were estimated for the associations between each mental disorder and the different forms of sick leave. Results All included diagnoses were associated with later sick leave. In adjusted analyses, major depressive disorder and generalized anxiety disorder were the strongest predictors of sick leave granted for mental disorders, whereas social anxiety disorder and specific phobia were the strongest predictors of sick leave granted for somatic disorders. Specific phobia and major depressive disorder had the highest attributable fractions for all-cause sick leave. Conclusions Mood and anxiety disorders constituted independent risk factors for all cause sick leave, whereas alcohol use disorders seemed to be of less importance in young adulthood. Disorders characterised by distress were most strongly associated with sick leave granted for mental disorders, whereas disorders characterised by fear primarily predicted sick leave granted for somatic conditions. A large part of all sick leave is related to specific phobia, due to the high prevalence of this disorder. The impairment associated with this common disorder may be under-acknowledged, and it could decrease work capacity among

  14. Diagnostics of the genetic causes of autism spectrum disorders – a clinical geneticist’s view

    OpenAIRE

    Szczałuba, Krzysztof

    2014-01-01

    Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different c...

  15. Rare acquired hemostatic disorders as a cause of prolonged bleeding – presentation of two case reports

    Directory of Open Access Journals (Sweden)

    Polona Novak

    2011-10-01

    Full Text Available BACKGROUNDPatient’s anamnesis is of primary importance in determining hemostatic disorders. Based on anamnestic data, a clinician may decide for further laboratory tests. We must consider an acquired bleeding disorder in a patient with unusual, unexpected and prolonged bleeding episodes. In this article we will describe two rare acquired hemostatic disordes.TWO CASE REPORTSOur first patient had prolonged bleeding after a pacemaker implantation. We diagnosed him with acquired von Willebrand syndrome. Further on, the patient required a planned surgical procedure. In our second case we describe a patient with unusual and excessive skin bruising and prolonged bleeding after teeth extractions. He was diagnosed with acquired hemophilia.CONCLUSIONIn the assessment of a patient with a potential acquired bleeding disorder we must first rule out the most common causes, such as iatrogenic ones. But, because of high morbidity and mortality rates, we must also be aware of some rare acquired bleeding disorders. In case of uncertainty, we should consult with a hematologist.

  16. 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.

  17. 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.

  18. [Diagnostics of the genetic causes of autism spectrum disorders - a clinical geneticist's view].

    Science.gov (United States)

    Szczaluba, Krzysztof

    2014-01-01

    Explanation of the genetic basis of autism spectrum disorders has, for many decades, been a part of interest of researchers and clinicians. In recent years, thanks to modern molecular and cytogenetic techniques, a significant progress has been achieved in the diagnosis of genetic causes of autism. This applies particularly, but not exclusively, to those cases of autism that are accompanied by other clinical signs (i. e. complex phenotypes). The important clinical markers belong to different categories, and include congenital defects/anomalies, dysmorphism and macro-/microcephaly, to name the few. Thus, the choice of the diagnostic strategy depends on the clinical and pedigree information and, under Polish circumstances, the availability of specific diagnostic techniques and the amount of reimbursement under the National Health Service. Overall, the identification of the genetic causes of autism spectrum disorders is possible in about 10-30% of patients. In this paper the practical aspects of the use of different diagnostic techniques are briefly described. Some clinical examples and current recommendations for the diagnosis of patients with autism spectrum disorders are also presented. The point of view of a specialist in clinical genetics, increasingly involved, as part of the multidisciplinary care team, in the diagnostics of an autistic child has been demonstrated.

  19. Public beliefs about causes and risk factors for mental disorders: a comparison of Japan and Australia

    Directory of Open Access Journals (Sweden)

    Nakane Hideyuki

    2005-09-01

    Full Text Available Abstract Background Surveys of the public in a range of Western countries have shown a predominant belief in social stressors as causes of mental disorders. However, there has been little direct cross-cultural comparison. Here we report a comparison of public beliefs about the causes of mental disorders in Japan and Australia. Methods Surveys of the public were carried out in each country using as similar a methodology as feasible. In both countries, household interviews were carried out concerning beliefs about causes and risk factors in relation to one of four case vignettes, describing either depression, depression with suicidal thoughts, early schizophrenia or chronic schizophrenia. In Japan, the survey involved 2000 adults aged between 20 and 69 from 25 regional sites spread across the country. In Australia, the survey involved a national sample of 3998 adults aged 18 years or over. Results In both countries, both social and personal vulnerability causes were commonly endorsed across all vignettes. The major differences in causal beliefs were that Australians were more likely to believe in infection, allergy and genetics, while Japanese were more likely to endorse "nervous person" and "weakness of character". For risk factors, Australians tended to believe that women, the young and the poor were more at risk of depression, but these were not seen as higher risk groups by Japanese. Conclusion In both Japan and Australia, the public has a predominant belief in social causes and risk factors, with personal vulnerability factors also seen as important. However, there are also some major differences between the countries. The belief in weakness of character as a cause, which was stronger in Japan, is of particular concern because it may reduce the likelihood of seeking professional help and support from others.

  20. Fatty acid oxidation disorders as primary cause of sudden and unexpected death in infants and young children

    DEFF Research Database (Denmark)

    Banner, Jytte; Kølvraa, S; Gregersen, N

    1997-01-01

    Disorders of fatty acid metabolism are known to be responsible for cases of sudden and unexpected death in infancy. At least 14 disorders are known at present. 120 cases of sudden infant death syndrome (SIDS) had been examined for a prevalent mutation (G985) causing medium chain acyl CoA dehydrog......Disorders of fatty acid metabolism are known to be responsible for cases of sudden and unexpected death in infancy. At least 14 disorders are known at present. 120 cases of sudden infant death syndrome (SIDS) had been examined for a prevalent mutation (G985) causing medium chain acyl Co...

  1. Gastrointestinal disorders caused by medication and electrolyte solution osmolality during enteral nutrition.

    Science.gov (United States)

    Niemiec, P W; Vanderveen, T W; Morrison, J I; Hohenwarter, M W

    1983-01-01

    Enteral feeding tubes represent convenient avenues for medication administration and electrolyte replacement. The frequent association of medication therapy with gastrointestinal disorders during enteral nutrition prompted this evaluation of medication and electrolyte solution osmolality. It is concluded that the hypertonicity of electrolyte replacement solutions and various medications may cause gastrointestinal intolerance in patients. Electrolyte supplementation by parenteral means or by appropriate dilution and mixture with an enteral formula is preferable to bolus administration of undiluted solutions via the feeding tube. Routine admixture of medications such as antibiotic suspensions to enteral formulas cannot be recommended at this time pending specific study of drug compatibility and availability from enteral tube feeding systems.

  2. Defects in enzyme regulation versus defects in enzyme synthesis as cause of metabolic disorders.

    Science.gov (United States)

    Belfiore, F

    1980-01-01

    Based on the consideration that normal metabolic processes depend upon the activity of key enzymes (and membrane carriers) as modulated by regulatory factors (hormones, diet, endogenous compounds, age, physical activity, environmental agents), metabolic disorders might be classified into two groups: (I) defects in enzyme synthesis, leading to enzyme deficiency (classical inborn errors of metabolism) or to qualitative (structural) enzyme alterations (entailing unresponsiveness to regulation), in the presence of normal regulatory factors; (II) defects in enzyme regulation, which include metabolic syndromes such as diabetes mellitus, obesity and hyperlipoproteinemias (other than type I), and are due to changes in enzyme activities caused by alterations in regulatory factor(s) (secondary to various causes), in the presence of normally responsive enzymes.

  3. Folate receptor alpha defect causes cerebral folate transport deficiency: a treatable neurodegenerative disorder associated with disturbed myelin metabolism.

    NARCIS (Netherlands)

    Steinfeld, R.; Grapp, M.; Kraetzner, R.; Dreha-Kulaczewski, S.; Helms, G.; Dechent, P.; Wevers, R.A.; Grosso, S.; Gartner, J.

    2009-01-01

    Sufficient folate supplementation is essential for a multitude of biological processes and diverse organ systems. At least five distinct inherited disorders of folate transport and metabolism are presently known, all of which cause systemic folate deficiency. We identified an inherited

  4. Brain basis of childhood speech and language disorders: are we closer to clinically meaningful MRI markers?

    Science.gov (United States)

    Morgan, Angela; Bonthrone, Alexandra; Liégeois, Frédérique J

    2016-12-01

    Developmental speech and language disorders are common, seen in one in 20 preschool children, in the absence of frank neurological deficits or intellectual impairment. They are a key reason parents seek help from paediatricians. Complex neurogenetic and environmental contributions underpin the disorders, yet few specific causes are known. With the advent of quantitative brain imaging, a growing number of studies have investigated neural contributions. Here, we discuss current MRI approaches and recent findings (January 2014-June 2016) in the field. Five relevant studies were identified (n = 3 - speech disorder and n = 2 - language disorder). Significant variability in MRI approaches and heterogeneity of participant phenotypes was seen. Children with speech disorder had structural and functional anomalies in the left supramarginal gyrus and functional anomalies in the posterior cerebellum bilaterally - regions critical for sensory-motor integration or feedback. Children with language disorder showed increased mean and radial diffusivity of the left arcuate fasciculus, although a widespread cortical and subcortical network of regions was implicated. Limited evidence exists for specific regional brain anomalies in this population. MRI prognostic markers of speech and language ability are not currently available at an individual level. Further work is required to disentangle neurobiological contributions to speech and language disorders for affected children.

  5. Joint disorder; a contributory cause to reproductive failure in beef bulls?

    Directory of Open Access Journals (Sweden)

    Ekman Stina

    2007-11-01

    Full Text Available Abstract The lame sire, unsound for breeding, can cause substantial economic loss due to reduced pregnancies in the beef-producing herd. To test the hypothesis that joint disorder is a possible cause of infertility in beef sires, right and left hind limb bones from 34 beef sires were examined postmortem to identify lesions in the femorotibial, femoropatellar (stifle, tarsocrural, talocalcaneus, and proximal intertarsal (tarsal joints. The bulls were slaughtered during or after the breeding season due to poor fertility results. Aliquots of the cauda epididymal contents taken postmortem from 26 bulls were used for sperm morphology evaluation. As a control, hind limbs (but no semen samples from 11 beef bulls with good fertility results were included. Almost all infertile bulls (30/34 had lesions in at least one joint. Twenty-eight bulls (28/30, 93% had lesions in the stifle joint, and 24 (24/28, 86% of these were bilateral. Fourteen bulls (14/30, 47% had lesions in the tarsal joint, and 10 (10/14, 71% of these were bilateral. Four bulls (4/34, 12% had no lesions, three bulls (3/34, 9% had mild osteoarthritis (OA, 5 (5/34, 15% moderate OA, 17 (17/34, 50% severe OA and 5 (5/34, 15% deformed OA. Almost all OA lesions (97% were characterized as lesions secondary to osteochondrosis dissecans. All the bulls with satisfactory sperm morphology (n = 12/34 had joint lesions, with mostly severe or deformed bilateral lesions (83%. Consequently, the most likely cause of infertility in these 12 bulls was joint disease. Almost all control bulls (10/11 had OA lesions, but most of them were graded as mild (55% or moderate (36%. None of the control bulls had severe lesions or deformed OA. We suggest that joint lesions should be taken into consideration as a contributory cause of reproductive failure in beef sires without symptoms of lameness.

  6. A RETROSPECTIVE OBSERVATIONAL STUDY OF PREVALENCE AND OCULAR MANIFESTATIONS IN VARIOUS OCULAR CAUSES FOR HEADACHE DISORDERS

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    Srinivasan Shanmugam

    2016-10-01

    Full Text Available BACKGROUND Headache or cephalgia is one of the commonest symptoms causing pain in head above eyes or the ears, behind the head in the occipital region or in the back of the upper neck causing pain as well as disability to an individual. WHO reports around 47% of adults worldwide will have experienced headache in the last year. Headache maybe primary or secondary. Tension headache is more common type of primary headache. Almost, 90% of adults have tension headache and it is more common in females than males. Migraine headache is third most prevalent disorder worldwide and ranked as seventh highest cause of disability. Migraine headaches are the second most common type of primary headaches, whereas cluster headache, a relatively uncommon type of primary headache affecting less than 1 in every 1000 adults. 1 Many people suffer from mixed headache disorder in which tension headache or secondary headache may trigger migraine. Headache on 15 or more days in every month affects 1.7-4% of the world adult population. Hospital-based studies of migraine shows India is home over 16% of world inhabitants suffering from migraine. MATERIALS AND METHODS In our study, total screening of 1200 cases was done with headache symptomatology reported to Eye OPD directly as well as referred from ENT, Medical, NeuroMedical, Surgical, Neurosurgical, Psychiatry, Orthopaedics and Trauma Ward. A detailed clinical examination and ophthalmological examination was done in 1200 cases. RESULTS Sexual prevalence in our study indicated female with increased prevalence of 46.67% compared to male of 36%. Among 30 cases of migrainous headache with or without aura, the sexual prevalence in our study has female-to-male ratio as 2:1 (female - 20 cases and male - 10 cases. No cluster headache disorder was reported in our study. Among the tension headache presented with ocular manifestations like association of the refractive error, redness, burning sensation, the female prevalence among

  7. Association between alcohol and substance use disorders and all-cause and cause-specific mortality in schizophrenia, bipolar disorder, and unipolar depression: a nationwide, prospective, register-based study.

    Science.gov (United States)

    Hjorthøj, Carsten; Østergaard, Marie Louise Drivsholm; Benros, Michael Eriksen; Toftdahl, Nanna Gilliam; Erlangsen, Annette; Andersen, Jon Trærup; Nordentoft, Merete

    2015-09-01

    People with severe mental illness have both increased mortality and are more likely to have a substance use disorder. We assessed the association between mortality and lifetime substance use disorder in patients with schizophrenia, bipolar disorder, or unipolar depression. In this prospective, register-based cohort study, we obtained data for all people with schizophrenia, bipolar disorder, or unipolar depression born in Denmark in 1955 or later from linked nationwide registers. We obtained information about treatment for substance use disorders (categorised into treatment for alcohol, cannabis, or hard drug misuse), date of death, primary cause of death, and education level. We calculated hazard ratios (HRs) for all-cause mortality and subhazard ratios (SHRs) for cause-specific mortality associated with substance use disorder of alcohol, cannabis, or hard drugs. We calculated standardised mortality ratios (SMRs) to compare the mortality in the study populations to that of the background population. Our population included 41 470 people with schizophrenia, 11 739 people with bipolar disorder, and 88 270 people with depression. In schizophrenia, the SMR in those with lifetime substance use disorder was 8·46 (95% CI 8·14-8·79), compared with 3·63 (3·42-3·83) in those without. The respective SMRs in bipolar disorder were 6·47 (5·87-7·06) and 2·93 (2·56-3·29), and in depression were 6·08 (5·82-6·34) and 1·93 (1·82-2·05). In schizophrenia, all substance use disorders were significantly associated with increased risk of all-cause mortality, both individually (alcohol, HR 1·52 [95% CI 1·40-1·65], pdisorder or depression, only substance use disorders of alcohol (bipolar disorder, HR 1·52 [95% CI 1·27-1·81], pdisorder, 1·89 [1·34-2·66], p=0·0003; depression, 2·27 [1·98-2·60], pdisorders than in those without, particularly in people who misuse alcohol and hard drugs. Mortality-reducing interventions should focus on patients with a dual

  8. Mood and anxiety disorders in patients with chronic low back and neck pain caused by disc herniation.

    Science.gov (United States)

    Kayhan, Fatih; Albayrak Gezer, İlknur; Kayhan, Ayşegül; Kitiş, Serkan; Gölen, Mustafa

    2016-01-01

    We investigated the prevalence of mood and anxiety disorders in patients with chronic low back and neck pain caused by disc herniation and the relationships between pain and mood, and anxiety disorders. In total, 149 patients with disc herniation and 60 healthy subjects were included. Disc herniation was diagnosed based on a physical examination and magnetic resonance imaging. Mood and anxiety disorders were diagnosed using the Structured Clinical Interview of the Diagnostic and Statistical Manual of Mental Disorders, Fourth Edition/Clinical Version. The mean age of the study subjects (n = 209) was 45.96 ± 11.45 years. Seventy (46.6%) patients with disc herniation met the criteria for at least one mood or anxiety disorder. The prevalence rates of mood and anxiety disorders were 16.6% and 35.8%, respectively. The most common specific diagnoses were major depression (n = 25, 16.9%) and generalised anxiety disorder (n = 19, 12.8%). Mood and anxiety disorders were more commonly seen in patients with lumbar or cervical disc herniation than in those without herniation. No relationship was detected between pain severity and mood or anxiety disorders. However, mood and anxiety disorders were associated with neurological deficits.

  9. 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.

  10. 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

  11. Management of temporomandibular joint disorders caused by complication of teeth extraction

    Directory of Open Access Journals (Sweden)

    Endang Syamsuddin

    2016-06-01

    Full Text Available Complicated tooth extractions may lead to various post-extraction complications, including Temporomandibular Joint Disorders (TMD. Despite of the rare incidence, a delayed treatment of the TMD will cause more problems in the future as well as increased morbidity rate. The purpose of the current study was to elaborate the symptoms as well as the management of TMD as a post tooth extraction complication. The types of TMD as a post tooth extraction complication includes dislocated condyle, osteoarthritis, fracture condyle and disc displacement. These type of complications may resulted from an extensive opening of the mouth as well as an over pressure on the mandible during tooth extraction. In relation to this, some of the TMD symptoms that might cause a certain level of interference for patients may include pain, limited mouth opening and joint sounds, with pain and limited mouth opening as the initial symptoms. The first measure of the pain management would be warm light compress around the TMJ followed by a soft diet for food intake. A definitive treatment should then be based on the diagnosis of the TMD. It is concluded that TMD may occur as a complication of a tooth extraction that initiated by pain and limited mouth opening. Immediate treatment would be pain relieve and load reduction of the Temporomandibular Joint by employing soft diet and mandibular movement restriction.

  12. Low doses of ivermectin cause sensory and locomotor disorders in dung beetles

    Science.gov (United States)

    Verdú, José R.; Cortez, Vieyle; Ortiz, Antonio J.; González-Rodríguez, Estela; Martinez-Pinna, Juan; Lumaret, Jean-Pierre; Lobo, Jorge M.; Numa, Catherine; Sánchez-Piñero, Francisco

    2015-09-01

    Ivermectin is a veterinary pharmaceutical generally used to control the ecto- and endoparasites of livestock, but its use has resulted in adverse effects on coprophilous insects, causing population decline and biodiversity loss. There is currently no information regarding the direct effects of ivermectin on dung beetle physiology and behaviour. Here, based on electroantennography and spontaneous muscle force tests, we show sub-lethal disorders caused by ivermectin in sensory and locomotor systems of Scarabaeus cicatricosus, a key dung beetle species in Mediterranean ecosystems. Our findings show that ivermectin decreases the olfactory and locomotor capacity of dung beetles, preventing them from performing basic biological activities. These effects are observed at concentrations lower than those usually measured in the dung of treated livestock. Taking into account that ivermectin acts on both glutamate-gated and GABA-gated chloride ion channels of nerve and muscle cells, we predict that ivermectin’s effects at the physiological level could influence many members of the dung pat community. The results indicate that the decline of dung beetle populations could be related to the harmful effects of chemical contamination in the dung.

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

    Science.gov (United States)

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

    2015-01-01

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

  14. Partial deletion of DMRT1 causes 46,XY ovotesticular disorder of sexual development.

    Science.gov (United States)

    Ledig, Susanne; Hiort, Olaf; Wünsch, Lutz; Wieacker, Peter

    2012-07-01

    Ovotesticular disorder of sexual development (DSD) is an unusual form of DSD, characterized by the coexistence of testicular and ovarian tissue in the same individual. In a subset of patients, ovotesticular DSD is caused by 46,XX/46,XY chimerism or mosaicism. To date, only a few monogenetic causes are known to be associated with XX and XY ovotesticular DSD. Clinical, hormonal, and histopathological data, and results of high-resolution array-comparative genomic hybridization (CGH) were obtained from a female patient with 46,XY ovotesticular DSD with testicular tissue on one side and an ovary harboring germ cells on the other. Results obtained by array-CGH were confirmed by RT-quantitative PCR. We detected a deletion of ∼35 kb affecting exons 3 and 4 of the DMRT1 gene in a female patient with 46,XY ovotesticular DSD. To the best of our knowledge, this is the smallest deletion affecting DMRT1 presented to this point in time. We suggest that haploinsufficiency of DMRT1 is sufficient for both XY gonadal dysgenesis and XY ovotesticular DSD. Furthermore, array-CGH is a very useful tool in the molecular diagnosis of DSD.

  15. Structural Basis for a Human Glycosylation Disorder Caused by Mutation of the COG4 Gene

    Energy Technology Data Exchange (ETDEWEB)

    Richardson, B.; Smith, R; Ungar, D; Nakamura, A; Jeffrey, P; Lupashin, V; Hughson, F

    2009-01-01

    The proper glycosylation of proteins trafficking through the Golgi apparatus depends upon the conserved oligomeric Golgi (COG) complex. Defects in COG can cause fatal congenital disorders of glycosylation (CDGs) in humans. The recent discovery of a form of CDG, caused in part by a COG4 missense mutation changing Arg 729 to Trp, prompted us to determine the 1.9 A crystal structure of a Cog4 C-terminal fragment. Arg 729 is found to occupy a key position at the center of a salt bridge network, thereby stabilizing Cog4's small C-terminal domain. Studies in HeLa cells reveal that this C-terminal domain, while not needed for the incorporation of Cog4 into COG complexes, is essential for the proper glycosylation of cell surface proteins. We also find that Cog4 bears a strong structural resemblance to exocyst and Dsl1p complex subunits. These complexes and others have been proposed to function by mediating the initial tethering between transport vesicles and their membrane targets; the emerging structural similarities provide strong evidence of a common evolutionary origin and may reflect shared mechanisms of action.

  16. Generalized anxiety disorder, major depressive disorder, and their comorbidity as predictors of all-cause and cardiovascular mortality: the Vietnam experience study.

    Science.gov (United States)

    Phillips, Anna C; Batty, G David; Gale, Catharine R; Deary, Ian J; Osborn, David; MacIntyre, Kate; Carroll, Douglas

    2009-05-01

    To examine whether the 1-year prevalence of major depressive disorder (MDD), generalized anxiety disorder (GAD), and their comorbidity were associated with subsequent all-cause and cardiovascular disease (CVD) mortality during 15 years in Vietnam veterans. Participants (N = 4256) were from the Vietnam Experience Study. Service, sociodemographic, and health data were collected from service files, telephone interviews, and a medical examination. One-year prevalence of MDD and GAD was determined through a diagnostic interview schedule based on the Diagnostic and Statistical Manual of Mental Disorders (version IV) criteria. Mortality over the subsequent 15 years was gathered from US army records. MDD and GAD were positively and significantly associated with all-cause and CVD mortality. The relationships between MDD and GAD and CVD mortality were no longer significant after adjustment for sociodemograhics, health status at entry, health behaviors, and other risk markers. Income was the covariate with the strongest impact on this association. In analyses comparing comorbidity and GAD and MDD alone, with neither diagnosis, comorbidity proved to be the strongest predictor of both all-cause and CVD mortality. GAD and MDD predict all-cause mortality in a veteran population after adjusting for a range of covariates. However, those with both GAD and MDD were at greatest risk of subsequent death, and it would seem that these disorders may interact synergistically to affect mortality. Future research on mental disorders and health outcomes, as well as future clinical interventions, should pay more attention to comorbidity.

  17. Poor self-recognition of disordered eating among girls with bulimic-type eating disorders: cause for concern?

    Science.gov (United States)

    Gratwick-Sarll, Kassandra; Bentley, Caroline; Harrison, Carmel; Mond, Jonathan

    2016-08-01

    Bulimic-type eating disorders are common among young women and associated with high levels of distress and disability and low uptake of mental health care. We examined self-recognition of disordered eating and factors associated with this among female adolescents with bulimic-type eating disorders (n = 139) recruited from a large, population-based sample. A vignette of a fictional character with bulimia nervosa was presented, followed by a series of questions addressing the nature and treatment of the problem described. One of these questions required participants to indicate whether they currently had a problem such as the one described. Self-report measures of eating disorder symptoms, general psychological distress and quality of life were also completed. More than half of participants (58%) did not believe that they currently had a problem with their eating. In multivariable analysis, impairment in emotional well-being and self-induced vomiting were the only variables independently associated with self-recognition. Participants who recognized a problem with their eating were more likely to have sought treatment for an eating problem than those who did not. Recognition of disordered eating among adolescents with bulimic-type eating disorders may be poor and this may be a factor in low uptake of mental health care. Health promotion efforts may need to address the misconception that only bulimic-type disorders involving self-induced vomiting are pathological. © 2014 Wiley Publishing Asia Pty Ltd.

  18. Pathogen-specific risk of chronic gastrointestinal disorders following bacterial causes of foodborne illness.

    Science.gov (United States)

    Porter, Chad K; Choi, Daniel; Cash, Brooks; Pimentel, Mark; Murray, Joseph; May, Larissa; Riddle, Mark S

    2013-03-08

    The US CDC estimates over 2 million foodborne illnesses are annually caused by 4 major enteropathogens: non-typhoid Salmonella spp., Campylobacter spp., Shigella spp. and Yersinia enterocoltica. While data suggest a number of costly and morbid chronic sequelae associated with these infections, pathogen-specific risk estimates are lacking. We utilized a US Department of Defense medical encounter database to evaluate the risk of several gastrointestinal disorders following select foodborne infections. We identified subjects with acute gastroenteritis between 1998 to 2009 attributed to Salmonella (nontyphoidal) spp., Shigella spp., Campylobacter spp. or Yersinia enterocolitica and matched each with up to 4 unexposed subjects. Medical history was analyzed for the duration of military service time (or a minimum of 1 year) to assess for incident chronic gastrointestinal disorders. Relative risks were calculated using modified Poisson regression while controlling for the effect of covariates. A total of 1,753 pathogen-specific gastroenteritis cases (Campylobacter: 738, Salmonella: 624, Shigella: 376, Yersinia: 17) were identified and followed for a median of 3.8 years. The incidence (per 100,000 person-years) of PI sequelae among exposed was as follows: irritable bowel syndrome (IBS), 3.0; dyspepsia, 1.8; constipation, 3.9; gastroesophageal reflux disease (GERD), 9.7. In multivariate analyses, we found pathogen-specific increased risk of IBS, dyspepsia, constipation and GERD. These data confirm previous studies demonstrating risk of chronic gastrointestinal sequelae following bacterial enteric infections and highlight additional preventable burden of disease which may inform better food security policies and practices, and prompt further research into pathogenic mechanisms.

  19. Aluminum chloride caused liver dysfunction and mitochondrial energy metabolism disorder in rat.

    Science.gov (United States)

    Xu, Feibo; Liu, Yanfen; Zhao, Hansong; Yu, Kaiyuan; Song, Miao; Zhu, Yanzhu; Li, Yanfei

    2017-09-01

    Aluminum (Al) is known to exert hepatotoxicity. However, the mechanisms mostly are unclear. Liver is a metabolism organ that maintains the energy level and structural stability of body, mitochondria are the main sites of energy metabolism, thus, we hypothesized that mitochondrial energy metabolism disorder contributes to liver dysfunction in aluminum chloride (AlCl 3 ) treatment rat. To verify the hypothesis, forty male Wistar rats were randomly allocated and orally exposed to 0, 64mg/kg, 128mg/kg and 256mg/kg body weight AlCl 3 in drinking water for 120days, respectively. We found that AlCl 3 exposure reduced the electron transport chain complexes I-V activities and adenosine triphosphate (ATP) level, as well as disturbed mitochondrial DNA transcript, presenting as the inhibited mRNA expressions of NADH dehydrogenase 1, NADH dehydrogenase 2, cytochrome b, cytochrome c oxidase subunit 1, cytochrome c oxidase subunit 3 and ATP synthase 6, indicating that AlCl 3 exposure disturbs the mitochondrial energy metabolism, and it caused an increase in liver enzymes (Aspartate aminotransferase and Alanine aminotransferase) and histopathological lesions. Additionally, we found that reactive oxygen species accumulation and decreased superoxide dismutase activity in mitochondria, and increased 8-Hydroxydeoxyguanosine levels in mitochondrial DNA, demonstrating AlCl 3 exposure promotes mitochondrial oxidative stress, which may be a contributing factor to mitochondrial energy metabolism disorder and liver dysfunction. The study displayed that mitochondria are the potential target of liver damage induced by AlCl 3 , providing considerable direction for the prevention and clinical intervention of liver diseases. Copyright © 2017. Published by Elsevier Inc.

  20. [Analysis of the causes and determinants of reaction to severe stress and adjustment disorder patients on mental health clinics].

    Science.gov (United States)

    Golinowska, Danuta; Florkowski, Antoni; Juszczak, Dariusz

    2010-05-01

    In everyday life there are many obstacles that prevent the creation of many important needs. They require a skillful adaptation and may be the cause of stress. Stress of considerable intensity can receive the joy of life and even lead to a temporary mental disorder. To present the main causes and frequency of disturbance determined according to the ICD-10 as a reaction to severe stress and adaptive disorders among patients in psychiatric and psychological counseling and to establish whether the causes of the disorder are dependent on factors such as age, sex or level of education. Analysis was done on a separate group of 754 persons from among patients seeking psychiatric counseling--Psychological Outpatient Mental Health in the 10th Military Clinical Hospital in Bydgoszcz, in 2005. This group were qualified person, who according to the criteria of ICD-10 were found to respond to severe stress and abnormal adaptation. In addition, during the interview determines whether they are long-term somatic illness. They have not been included in the study group. Also excluded persons who were found difficulties in operation prior to the stressful situation and those that have already been treated with psychiatric or psychological benefit from therapy. The collected data were statistically analyzed. The analysis identifies three main causes of adjustment disorder. The first group of reasons is related to difficulties in the workplace, which represents 59% of all patients with the disorder described. In this group identifies three major stressful situations: bullying, job loss, unemployment. Another reason relates to family problems. They are the reason for the emergence of abnormalities in 23% of patients analyzed group. Among these difficulties was divided into four main types of situation causing disorder presented. There are family conflicts, death of spouse, parent death, divorce. The last group of factors are stressful events or incidents which contributed to the

  1. How olfaction disorders can cause depression? The role of habenular degeneration.

    Science.gov (United States)

    Oral, E; Aydin, M D; Aydin, N; Ozcan, H; Hacimuftuoglu, A; Sipal, S; Demirci, E

    2013-06-14

    detected a relationship between a decreased healthy neuronal density of the habenula and depressive symptomatology in rats with OBX. We suggest that olfaction disorders might cause neuropsychiatric disorders by affecting neuronal degeneration in habenular nuclei. Copyright © 2013 IBRO. Published by Elsevier Ltd. All rights reserved.

  2. A SLC39A8 variant causes manganese deficiency, and glycosylation and mitochondrial disorders.

    Science.gov (United States)

    Riley, Lisa G; Cowley, Mark J; Gayevskiy, Velimir; Roscioli, Tony; Thorburn, David R; Prelog, Kristina; Bahlo, Melanie; Sue, Carolyn M; Balasubramaniam, Shanti; Christodoulou, John

    2017-03-01

    SLC39A8 variants have recently been reported to cause a type II congenital disorder of glycosylation (CDG) in patients with intellectual disability and cerebellar atrophy. Here we report a novel SLC39A8 variant in siblings with features of Leigh-like mitochondrial disease. Two sisters born to consanguineous Lebanese parents had profound developmental delay, dystonia, seizures and failure to thrive. Brain MRI of both siblings identified bilateral basal ganglia hyperintensities on T2-weighted imaging and cerebral atrophy. CSF lactate was elevated in patient 1 and normal in patient 2. Respiratory chain enzymology was only performed on patient 1 and revealed complex IV and II + III activity was low in liver, with elevated complex I activity. Complex IV activity was borderline low in patient 1 muscle and pyruvate dehydrogenase activity was reduced. Whole genome sequencing identified a homozygous Chr4(GRCh37):g.103236869C>G; c.338G>C; p.(Cys113Ser) variant in SLC39A8, located in one of eight regions identified by homozygosity mapping. SLC39A8 encodes a manganese and zinc transporter which localises to the cell and mitochondrial membranes. Patient 2 blood and urine manganese levels were undetectably low. Transferrin electrophoresis of patient 2 serum revealed a type II CDG defect. Oral supplementation with galactose and uridine led to improvement of the transferrin isoform pattern within 14 days of treatment initiation. Oral manganese has only recently been added to the treatment. These results suggest SLC39A8 deficiency can cause both a type II CDG and Leigh-like syndrome, possibly via reduced activity of the manganese-dependent enzymes β-galactosyltransferase and mitochondrial manganese superoxide dismutase.

  3. Disorders in melanopsin effect of pupil constriction as a risk factor causing eye diseases

    Directory of Open Access Journals (Sweden)

    V.A. Kaptsov

    2017-03-01

    Full Text Available Risks of eye damage and eyesight deterioration to a great extent depend on how efficient a biomechanical eye system is under energy-saving lighting conditions. The system's efficiency is determined by its adequacy in managing pupils and ciliary muscle. We analyzed mathematical models describing changes in pupil's diameter which were determined by light-technical parameters of illumination environment (luminance level and brightness. We highlighted the importance of ganglionic cells and the role they play in managing pupil's diameter (miosis when they are exposed to blue light within 480 nm spectrum. Basing on the assessment of a pupil's constriction under exposure to various light stimuli (blue, red, and green ones we worked out a melanopsin effect concept of a pupil's retention at miosis and showed that it could be a diagnostic sign of some diseases (age-related direct retinopathy, pancreatic diabetes under exposure to a blue light impulse with a certain wave length. Under exposure to blue light within 480 nm spectrum ganglionic cells form a managing signal for a sphincter muscle of a pupil and ciliary muscle which provides accommodation (as per Helmholtz and regulates aqueous humor flow in ciliary channel. All modern energy-saving light sources have a low energy level at wave length equal to 480 nm due to gap in their spectrum in comparison with sunlight spectrum with the same light temperature and luminance level. Inadequate management of pupil's diameter under artificial lighting conditions leads to melanopsin effect disorders and causes disharmony in managing aqueous humor outflow. All the above-stated factors under long-term visual load cause eye diseases risks in modern illumination environment. We detected that contemporary mathematic models describing pupil's diameter fluctuations needed to be refined allowing for new knowledge on functional peculiarities of retina cells and energy-saving light sources spectrum.

  4. GRIN1 mutations cause encephalopathy with infantile-onset epilepsy, and hyperkinetic and stereotyped movement disorders.

    Science.gov (United States)

    Ohba, Chihiro; Shiina, Masaaki; Tohyama, Jun; Haginoya, Kazuhiro; Lerman-Sagie, Tally; Okamoto, Nobuhiko; Blumkin, Lubov; Lev, Dorit; Mukaida, Souichi; Nozaki, Fumihito; Uematsu, Mitsugu; Onuma, Akira; Kodera, Hirofumi; Nakashima, Mitsuko; Tsurusaki, Yoshinori; Miyake, Noriko; Tanaka, Fumiaki; Kato, Mitsuhiro; Ogata, Kazuhiro; Saitsu, Hirotomo; Matsumoto, Naomichi

    2015-06-01

    Recently, de novo mutations in GRIN1 have been identified in patients with nonsyndromic intellectual disability and epileptic encephalopathy. Whole exome sequencing (WES) analysis of patients with genetically unsolved epileptic encephalopathies identified four patients with GRIN1 mutations, allowing us to investigate the phenotypic spectrum of GRIN1 mutations. Eighty-eight patients with unclassified early onset epileptic encephalopathies (EOEEs) with an age of onset stereotypic hand movements were observed in two and three patients, respectively. All the four patients exhibited only nonspecific focal and diffuse epileptiform abnormality, and never showed suppression-burst or hypsarrhythmia during infancy. A de novo mosaic mutation (c.1923G>A) with a mutant allele frequency of 16% (in DNA of blood leukocytes) was detected in one patient. Three mutations were located in the transmembrane domain (3/4, 75%), and one in the extracellular loop near transmembrane helix 1. All the mutations were predicted to impair the function of the NMDA receptor. Clinical features of de novo GRIN1 mutations include infantile involuntary movements, seizures, and hand stereotypies, suggesting that GRIN1 mutations cause encephalopathy resulting in seizures and movement disorders. Wiley Periodicals, Inc. © 2015 International League Against Epilepsy.

  5. Late Onset Cobalamin Disorder and Hemolytic Uremic Syndrome: A Rare Cause of Nephrotic Syndrome

    Directory of Open Access Journals (Sweden)

    Gianluigi Ardissino

    2017-01-01

    Full Text Available Hemolytic uremic syndrome (HUS is an unrare and severe thrombotic microangiopathy (TMA caused by several pathogenetic mechanisms among which Shiga toxin-producing Escherichia coli infections and complement dysregulation are the most common. However, very rarely and particularly in neonates and infants, disorders of cobalamin metabolism (CblC can present with or be complicated by TMA. Herein we describe a case of atypical HUS (aHUS related to CblC disease which first presented in a previously healthy boy at age of 13.6 years. The clinical picture was initially dominated by nephrotic range proteinuria and severe hypertension followed by renal failure. The specific treatment with high dose of hydroxycobalamin rapidly obtained the remission of TMA and the complete recovery of renal function. We conclude that plasma homocysteine and methionine determinations together with urine organic acid analysis should be included in the diagnostic work-up of any patient with TMA and/or nephrotic syndrome regardless of age.

  6. Mutations of CDKL5 Cause a Severe Neurodevelopmental Disorder with Infantile Spasms and Mental Retardation

    Science.gov (United States)

    Weaving, Linda S.; Christodoulou, John; Williamson, Sarah L.; Friend, Kathie L.; McKenzie, Olivia L. D.; Archer, Hayley; Evans, Julie; Clarke, Angus; Pelka, Gregory J.; Tam, Patrick P. L.; Watson, Catherine; Lahooti, Hooshang; Ellaway, Carolyn J.; Bennetts, Bruce; Leonard, Helen; Gécz, Jozef

    2004-01-01

    Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large degree of phenotypic variation has been observed in patients with RTT, both those with and without MECP2 mutations. We describe a family consisting of a proband with a phenotype that showed considerable overlap with that of RTT, her identical twin sister with autistic disorder and mild-to-moderate intellectual disability, and a brother with profound intellectual disability and seizures. No pathogenic MECP2 mutations were found in this family, and the Xq28 region that contains the MECP2 gene was not shared by the affected siblings. Three other candidate regions were identified by microsatellite mapping, including 10.3 Mb at Xp22.31-pter between Xpter and DXS1135, 19.7 Mb at Xp22.12-p22.11 between DXS1135 and DXS1214, and 16.4 Mb at Xq21.33 between DXS1196 and DXS1191. The ARX and CDKL5 genes, both of which are located within the Xp22 region, were sequenced in the affected family members, and a deletion of nucleotide 183 of the coding sequence (c.183delT) was identified in CDKL5 in the affected family members. In a screen of 44 RTT cases, a single splice-site mutation, IVS13-1G→A, was identified in a girl with a severe phenotype overlapping RTT. In the mouse brain, Cdkl5 expression overlaps—but is not identical to—that of Mecp2, and its expression is unaffected by the loss of Mecp2. These findings confirm CDKL5 as another locus associated with epilepsy and X-linked mental retardation. These results also suggest that mutations in CDKL5 can lead to a clinical phenotype that overlaps RTT. However, it remains to be determined whether CDKL5 mutations are more prevalent in specific clinical subgroups of RTT or in other clinical presentations. PMID:15492925

  7. Non-opioid nociceptive activity of human dynorphin mutants that cause neurodegenerative disorder spinocerebellar ataxia type 23

    NARCIS (Netherlands)

    Watanabe, Hiroyuki; Mizoguchi, Hirokazu; Verbeek, Dineke S.; Kuzmin, Alexander; Nyberg, Fred; Krishtal, Oleg; Sakurada, Shinobu; Bakalkin, Georgy

    We previously identified four missense mutations in the prodynorphin gene that cause human neurodegenerative disorder spinocerebellar ataxia type 23 (SCA23). Three mutations substitute Leu(5), Arg(6), and Arg(9) to Ser (L5S), Trp (R6W) and Cys (R9C) in dynorphin A(1-17) (Dyn A), a peptide with both

  8. Adult hemophagocytic lymphohistiocytosis causing multi organ dysfunction in a patient with multiple autoimmune disorders: when the immune system runs amok.

    Science.gov (United States)

    Fleischmann, Robert; Böhmerle, Wolfgang; von Laffert, Maximilian; Jöhrens, Korinna; Mengel, Annerose; Hotter, Benjamin; Lindenberg, Robert; Scheibe, Franziska; Köhnlein, Martin; von Bahr Greenwood, Tatiana; Henter, Jan Inge; Meisel, Andreas

    2016-02-01

    We report a case of several autoimmune disorders eventually presenting as severe multi organ dysfunction syndrome caused by adult hemophagocytic lymphohistiocytosis (HLH). Clinical and laboratory tests might lead to fatal misinterpretation without awareness of its diagnostic evaluation, as HLH shares common features with sepsis and immune-mediated systemic inflammatory response syndromes.

  9. Deciphering the cause of evolutionary variance within intrinsically disordered regions in human proteins.

    Science.gov (United States)

    Banerjee, Sanghita; Chakraborty, Sandip; De, Rajat K

    2017-02-01

    Why the intrinsically disordered regions evolve within human proteome has became an interesting question for a decade. Till date, it remains an unsolved yet an intriguing issue to investigate why some of the disordered regions evolve rapidly while the rest are highly conserved across mammalian species. Identifying the key biological factors, responsible for the variation in the conservation rate of different disordered regions within the human proteome, may revisit the above issue. We emphasized that among the other biological features (multifunctionality, gene essentiality, protein connectivity, number of unique domains, gene expression level and expression breadth) considered in our study, the number of unique protein domains acts as a strong determinant that negatively influences the conservation of disordered regions. In this context, we justified that proteins having a fewer types of domains preferably need to conserve their disordered regions to enhance their structural flexibility which in turn will facilitate their molecular interactions. In contrast, the selection pressure acting on the stretches of disordered regions is not so strong in the case of multi-domains proteins. Therefore, we reasoned that the presence of conserved disordered stretches may compensate the functions of multiple domains within a single domain protein. Interestingly, we noticed that the influence of the unique domain number and expression level acts differently on the evolution of disordered regions from that of well-structured ones.

  10. Congenital versus Regressive Onset of Autism Spectrum Disorders: Parents' Beliefs about Causes

    Science.gov (United States)

    Goin-Kochel, Robin P.; Myers, Barbara J.

    2005-01-01

    Recent studies have validated the phenomenon of autistic regression, but little is known about how regressive and congenital onsets of the disorder influence parents' thinking about autism and its etiology. Parents (N = 327) of children with autism spectrum disorders completed an online questionnaire about their children's development.…

  11. Premature closure of the upper esophageal sphincter as a cause of severe deglutition disorder in infancy

    DEFF Research Database (Denmark)

    Nielsen, Rasmus; Husby, Steffen; Kruse-Andersen, Søren

    2005-01-01

    Deglutition disorders in infancy are often associated with birth asphyxia or structural abnormalities in the hypopharynx, the trachea, or the esophagus. Manometry can be crucial for clarifying the dynamics of the swallowing disorder in the infant with deglutition problems and without signs...

  12. Annual Research Review: Attachment Disorders in Early Childhood--Clinical Presentation, Causes, Correlates, and Treatment

    Science.gov (United States)

    Zeanah, Charles H.; Gleason, Mary Margaret

    2015-01-01

    Background: Though noted in the clinical literature for more than 50 years, attachment disorders have been studied systematically only recently. In part because of the ubiquity of attachments in humans, determining when aberrant behavior is best explained as an attachment disorder as opposed to insecure attachment has led to some confusion. In…

  13. Research Review: What we have learned about the causes of eating disorders - a synthesis of sociocultural, psychological, and biological research.

    Science.gov (United States)

    Culbert, Kristen M; Racine, Sarah E; Klump, Kelly L

    2015-11-01

    Eating disorders are severe psychiatric disorders with a complex etiology involving transactions among sociocultural, psychological, and biological influences. Most research and reviews, however, focus on only one level of analysis. To address this gap, we provide a qualitative review and summary using an integrative biopsychosocial approach. We selected variables for which there were available data using integrative methodologies (e.g., twin studies, gene-environment interactions) and/or data at the biological and behavioral level (e.g., neuroimaging). Factors that met these inclusion criteria were idealization of thinness, negative emotionality, perfectionism, negative urgency, inhibitory control, cognitive inflexibility, serotonin, dopamine, ovarian hormones. Literature searches were conducted using PubMed. Variables were classified as risk factors or correlates of eating disorder diagnoses and disordered eating symptoms using Kraemer et al.'s (1997) criteria. Sociocultural idealization of thinness variables (media exposure, pressures for thinness, thin-ideal internalization, thinness expectancies) and personality traits (negative emotionality, perfectionism, negative urgency) attained 'risk status' for eating disorders and/or disordered eating symptoms. Other factors were identified as correlates of eating pathology or were not classified given limited data. Effect sizes for risk factors and correlates were generally small-to-moderate in magnitude. Multiple biopsychosocial influences are implicated in eating disorders and/or disordered eating symptoms and several can now be considered established risk factors. Data suggest that psychological and environmental factors interact with and influence the expression of genetic risk to cause eating pathology. Additional studies that examine risk variables across multiple levels of analysis and that consider specific transactional processes amongst variables are needed to further elucidate the intersection of

  14. Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

    NARCIS (Netherlands)

    Kohl, S.; Zobor, D.; Chiang, W.C.; Weisschuh, N.; Staller, J.; Menendez, I.G.; Chang, S.; Beck, S.C.; Garrido, M. Garcia; Sothilingam, V.; Seeliger, M.W.; Stanzial, F.; Benedicenti, F.; Inzana, F.; Heon, E; Vincent, A.; Beis, J.; Strom, T.M.; Rudolph, G.; Roosing, S.; Hollander, A.I. den; Cremers, F.P.M.; Lopez, I.; Ren, H.; Moore, A.T.; Webster, A.R.; Michaelides, M.; Koenekoop, R.K.; Zrenner, E.; Kaufman, R.J.; Tsang, S.H.; Wissinger, B.; Lin, J.H.

    2015-01-01

    Achromatopsia (ACHM) is an autosomal recessive disorder characterized by color blindness, photophobia, nystagmus and severely reduced visual acuity. Using homozygosity mapping and whole-exome and candidate gene sequencing, we identified ten families carrying six homozygous and two

  15. CLPB mutations cause 3-methylglutaconic aciduria, progressive brain atrophy, intellectual disability, congenital neutropenia, cataracts, movement disorder

    NARCIS (Netherlands)

    Wortmann, S.B.; Zietkiewicz, S.; Kousi, M.; Szklarczyk, R.J.; Haack, T.B.; Gersting, S.W.; Muntau, A.C.; Rakovic, A.; Renkema, G.H.; Rodenburg, R.J.; Strom, T.M.; Meitinger, T.; Rubio-Gozalbo, M.E.; Chrusciel, E.; Distelmaier, F.; Golzio, C.; Jansen, J.H.; Karnebeek, C. van; Lillquist, Y.; Lucke, T.; Ounap, K.; Zordania, R.; Yaplito-Lee, J.; Bokhoven, H. van; Spelbrink, J.N.; Vaz, F.M.; Pras-Raves, M.; Ploski, R.; Pronicka, E.; Klein, C.; Willemsen, M.A.A.P.; Brouwer, A.P.M. de; Prokisch, H.; Katsanis, N.; Wevers, R.A.

    2015-01-01

    We studied a group of individuals with elevated urinary excretion of 3-methylglutaconic acid, neutropenia that can develop into leukemia, a neurological phenotype ranging from nonprogressive intellectual disability to a prenatal encephalopathy with progressive brain atrophy, movement disorder,

  16. Does Orthognathic Surgery Cause or Cure Temporomandibular Disorders? A Systematic Review and Meta-Analysis.

    Science.gov (United States)

    Al-Moraissi, Essam Ahmed; Wolford, Larry M; Perez, Daniel; Laskin, Daniel M; Ellis, Edward

    2017-09-01

    There is still controversy about whether orthognathic surgery negatively or positively affects temporomandibular disorders (TMDs). The purpose of this study was to determine whether orthognathic surgery has a beneficial or deleterious effect on pre-existing TMDs. A systematic review and meta-analysis were conducted based on Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines. We searched 3 major databases to locate all pertinent articles published from 1980 to March 2016. All subjects in the various studies were stratified a priori into 9 categories based on subdiagnoses of TMDs. The predictor variables were those patients with pre-existing TMDs who underwent orthognathic surgery in various subgroups. The outcome variables were maximal mouth opening and signs and symptoms of a TMD before and after orthognathic surgery based on the type of osteotomy. The meta-analysis was performed using Comprehensive Meta-Analysis software (Biostat, Englewood, NJ). A total of 5,029 patients enrolled in 29 studies were included in this meta-analysis. There was a significant reduction in TMDs in patients with a retrognathic mandible after bilateral sagittal split osteotomy (BSSO) (P = .014), but no significant difference after bimaxillary surgery (BSSO and Le Fort I osteotomy) (P = .336). There was a significant difference in patients with prognathism after isolated BSSO or intraoral vertical ramus osteotomy and after combined BSSO and Le Fort I osteotomy (P = .001), but no significant difference after BSSO (P = .424) or bimaxillary surgery (intraoral vertical ramus osteotomy and Le Fort I osteotomy) (P = .728). Orthognathic surgery caused a decrease in TMD symptoms for many patients who had symptoms before surgery, but it created symptoms in a smaller group of patients who were asymptomatic before surgery. The presence of presurgical TMD symptoms or the type of jaw deformity did not identify which patients' TMDs would improve, remain the

  17. [Clinical, vegetative and cognitive disorders in hypertensive postmenopausal women in relation to menopause causes].

    Science.gov (United States)

    Kolbasnikov, S V; Bakhareva, O N

    2006-01-01

    To specify clinical, vegetative and cognitive disorders in hypertensive women depending on the type of menopause. A total of 195 hypertensive women were divided into three groups: group 1 (n = 50, age 45.6 +/- 4.5 years) consisted of premenopausal women, group 2 (n = 100, age 57.4 +/- 4.7 years) - of women with natural menopause, group 3 (n = 45, age 55.1 +/- 5.9 years)--with early and/or surgical menopause. Severity of the menopausal syndrome, anxiety, depression, alexitimia, mental performance, vegetative regulation of heart rhythm were examined. The premenopausal women were characterized by cardial and cerebral disorders, unaffected psychovegetative function and initial symptoms of lowering mental performance. Hypertensive women with natural menopause showed combination of cardial and cerebral symptoms with moderate anxio-depressive disorders, alexitimia, subnormal parasympathetic activity of the autonomic nervous system in high centralization of heart rhythm regulation and attention disturbances. Patients with surgical and/or early menopause had marked cardial and cerebral symptoms, moderate anxiodepressive disorders, alexitimia, inhibition of mental performance, vegetative dysfunction, overcentralization of heart rhythm control. With development of postmenopausal metabolic symptom complex, severity of hypertension grows with emergence of anxiodepressive disorders which combine with vegetative regulation disorders and attenuation of mental performance.

  18. 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 ...

  19. [Are the hormonal status or psychosocial conditions the major cause of female depressive disorders after menopause?].

    Science.gov (United States)

    Walaszek, Paweł; Mazur, Paweł; Płachta, Zenon; Adamiak, Aneta; Azizi, Ilir; Rechberger, Tomasz

    2005-10-01

    The study was aimed to assess if the prevalence of female depressive disorders after menopause depends on their hormonal status (E2, FSH, testosterone, DHEAS) or psychosocial conditions, Moreover, the influence of HRT on female mood disorders was estimated. One hundred women (44=65 ys old) were included into the study. Ali patients were complaining of hot flushes for at least 6 months. Among these women 31% had depressive disorders at baseline. The hormonal status, psychosocial conditions and mood disorders (Beck's and Haniilton's scales) were assessed at the baseline and after 12 months in 50 women on HRT and in 20 control patients. After 1 year the depressive mood disappeared in 59% and worsened in 5,9% of women taking HRT, whereas in the control group 35% of patient experienced depression. Among women on HRT the significant increase of serum DHEAS was observed in patients with improvement of mood as well as in depressed ones. Serum testosterone, 17P-estradiol and FSH levels did not differ between both groups. The higher scores of Beck's and Hamilton's scales were not associated with hormonal status but correlated with worsening of psychosocial conditions. The female depressive disorders after menopause are associated with their psychosocial conditions but not with their hormonal status.

  20. Brain studies may alter long-held concepts about likely causes of some voice disorders

    Energy Technology Data Exchange (ETDEWEB)

    1989-02-17

    Two voice disorders long considered to be psychological problems, stuttering and spasmodic dysphonia, have been shown in many persons to have a neurophysiological basis. Investigators at the 155th national meeting of the American Association for the Advancement of Science, in San Francisco, described their findings, which are based on new analytic techniques. The research is being done at the Dallas Center for Vocal Motor Control, Callier Center for Communication Disorders, University of Texas at Dallas Health Science Center. The technology employed to learn what's wrong with the brains, rather than the psyches, of persons with certain speech disorders includes magnetic resonance imaging (MRI), brain electrical activity mapping (BEAM), and single photon emission computerized tomography (SPECT). The results of applying these techniques are combined with quantitative behavioral measures of vocal and nonvocal motor control, language performance, and cognition to arrive at a better understanding of the problem.

  1. Tomophobia, the phobic fear caused by an invasive medical procedure - an emerging anxiety disorder: a case report

    Directory of Open Access Journals (Sweden)

    Schmid Markus

    2009-11-01

    Full Text Available Abstract Introduction Tomophobia refers to fear or anxiety caused by forthcoming surgical procedures and/or medical interventions. Case presentation We present the case of a 69-year-old Caucasian man who refused urgently indicated medical intervention because of severe tomophobia. Conclusion Due to the rising number of surgical interventions in modern medicine, as well as the high number of unrecognised cases of tomophobia, this common but underdiagnosed anxiety disorder should be highlighted.

  2. Causes and Management of Treatment-Resistant Panic Disorder and Agoraphobia: A Survey of Expert Therapists

    Science.gov (United States)

    Sanderson, William C.; Bruce, Timothy J.

    2007-01-01

    Cognitive behavior therapy (CBT) is recognized as an effective psychological treatment for panic disorder (PD). Despite its efficacy, some clients do not respond optimally to this treatment. Unfortunately, literatures on the prediction, prevention, and management of suboptimal response are not well developed. Considering this lack of empirical…

  3. CCDC115 Deficiency Causes a Disorder of Golgi Homeostasis with Abnormal Protein Glycosylation

    NARCIS (Netherlands)

    Jansen, J.C.; Cirak, S.; Scherpenzeel, M. van; Timal, S.; Reunert, J.; Rust, S.; Perez, B.; Vicogne, D.; Krawitz, P.; Wada, Y.; Ashikov, A.M.; Perez-Cerda, C.; Medrano, C.; Arnoldy, A.; Hoischen, A.; Huijben, K.; Steenbergen, G.; Quelhas, D.; Diogo, L.; Rymen, D.; Jaeken, J.; Guffon, N.; Cheillan, D.; Heuvel, B. van den; Maeda, Y.; Kaiser, O.; Schara, U.; Gerner, P.; Boogert, M.A. van den; Holleboom, A.G.; Nassogne, M.C.; Sokal, E.; Salomon, J.; Bogaart, G. van den; Drenth, J.P.; Huynen, M.A.; Veltman, J.A.; Wevers, R.A.; Morava, E.; Matthijs, G.; Foulquier, F.; Marquardt, T.; Lefeber, D.J.

    2016-01-01

    Disorders of Golgi homeostasis form an emerging group of genetic defects. The highly heterogeneous clinical spectrum is not explained by our current understanding of the underlying cell-biological processes in the Golgi. Therefore, uncovering genetic defects and annotating gene function are

  4. Glucocorticoid receptors in the locus coeruleus mediate sleep disorders caused by repeated corticosterone treatment.

    Science.gov (United States)

    Wang, Zi-Jun; Zhang, Xue-Qiong; Cui, Xiang-Yu; Cui, Su-Ying; Yu, Bin; Sheng, Zhao-Fu; Li, Sheng-Jie; Cao, Qing; Huang, Yuan-Li; Xu, Ya-Ping; Zhang, Yong-He

    2015-03-24

    Stress induced constant increase of cortisol level may lead to sleep disorder, but the mechanism remains unclear. Here we described a novel model to investigate stress mimicked sleep disorders induced by repetitive administration of corticosterone (CORT). After 7 days treatment of CORT, rats showed significant sleep disturbance, meanwhile, the glucocorticoid receptor (GR) level was notably lowered in locus coeruleus (LC). We further discovered the activation of noradrenergic neuron in LC, the suppression of GABAergic neuron in ventrolateral preoptic area (VLPO), the remarkable elevation of norepinephrine in LC, VLPO and hypothalamus, as well as increase of tyrosine hydroxylase in LC and decrease of glutamic acid decarboxylase in VLPO after CORT treatment. Microinjection of GR antagonist RU486 into LC reversed the CORT-induced sleep changes. These results suggest that GR in LC may play a key role in stress-related sleep disorders and support the hypothesis that repeated CORT treatment may decrease GR levels and induce the activation of noradrenergic neurons in LC, consequently inhibit GABAergic neurons in VLPO and result in sleep disorders. Our findings provide novel insights into the effect of stress-inducing agent CORT on sleep and GRs' role in sleep regulation.

  5. Common Neurogenetic Diagnosis and Meso-Limbic Manipulation of Hypodopaminergic Function in Reward Deficiency Syndrome (RDS): Changing the Recovery Landscape

    Science.gov (United States)

    Blum, Kenneth; Febo, Marcelo; Badgaiyan, Rajendra D.; Demetrovics, Zsolt; Simpatico, Thomas; Fahlke, Claudia; Li, Mona; Dushaj, Kristina; Gold, Mark S.

    2017-01-01

    Abstract: Background: In 1990, Blum and associates provided the first confirmed genetic link between the DRD2 polymorphisms and alcoholism. This finding was based on an earlier conceptual framework, which served as a blueprint for their seminal genetic association discovery they termed “Brain Reward Cascade.” These findings were followed by a new way of understanding all addictive behaviors (substance and non-substance) termed “Reward Deficiency Syndrome” (RDS). RDS incorporates a complex multifaceted array of inheritable behaviors that are polygenic. Objective: In this review article, we attempt to clarify these terms and provide a working model to accurately diagnose and treat these unwanted behaviors. Method: We are hereby proposing the development of a translational model we term “Reward Deficiency Solution System™” that incorporates neurogenetic testing and meso-limbic manipulation of a “hypodopaminergic” trait/state, which provides dopamine agonistic therapy (DAT) as well as reduced “dopamine resistance,” while embracing “dopamine homeostasis.” Result: The result is better recovery and relapse prevention, despite DNA antecedents, which could impact the recovery process and relapse. Understanding the commonality of mental illness will transform erroneous labeling based on symptomatology, into a genetic and anatomical etiology. WC: 184. PMID:27174576

  6. PRRT2: a major cause of infantile epilepsy and other paroxysmal disorders of childhood.

    Science.gov (United States)

    Nobile, Carlo; Striano, Pasquale

    2014-01-01

    In the past 2 years, mutations in the PRRT2 gene have been identified in patients and families with a variety of early-onset paroxysmal disorders, including various paroxysmal dyskinesias, benign familial infantile seizures, hemiplegic migraine, and episodic ataxia. In this chapter, we describe the wide clinical spectrum associated with PRRT2 mutations and present the current hypotheses on the underlying pathophysiology. Through its interaction with the presynaptic plasma membrane protein SNAP25, the PRRT2 protein may play a role in synaptic regulation in the cortex and basal ganglia. PRRT2 mutations likely have a loss-of-function effect and result in synaptic deregulation and neuronal hyperexcitability. The molecular bases underlying phenotypic variability are still unclear. Elucidating the molecular pathways linking the genetic defect to its clinical expression will improve treatment of these disorders. © 2014 Elsevier B.V. All rights reserved.

  7. Does Cannabis Cause, Exacerbate or Ameliorate Psychiatric Disorders? An Oversimplified Debate Discussed

    Science.gov (United States)

    Haney, Margaret; Evins, A Eden

    2016-01-01

    There have been extensive policy shifts in the legality of recreational and therapeutic use of cannabis in the United States, as well as a steady increase in the number of people using the drug on a regular basis. Given these rapid societal changes, defining what is known scientifically about the consequences of cannabis use on mental health takes on added public health significance. The purpose of this circumspectives piece is to discuss evidence of cannabis' effects on two psychiatric conditions: post-traumatic stress disorder and psychotic disorders. Dr Haney and Dr Evins will discuss two viewpoints regarding the benefit and harm of cannabis use for these conditions, while outlining what remains unproven and requires further testing to move the field forward. PMID:26286840

  8. Does Cannabis Cause, Exacerbate or Ameliorate Psychiatric Disorders? An Oversimplified Debate Discussed.

    Science.gov (United States)

    Haney, Margaret; Evins, A Eden

    2016-01-01

    There have been extensive policy shifts in the legality of recreational and therapeutic use of cannabis in the United States, as well as a steady increase in the number of people using the drug on a regular basis. Given these rapid societal changes, defining what is known scientifically about the consequences of cannabis use on mental health takes on added public health significance. The purpose of this circumspectives piece is to discuss evidence of cannabis' effects on two psychiatric conditions: post-traumatic stress disorder and psychotic disorders. Dr Haney and Dr Evins will discuss two viewpoints regarding the benefit and harm of cannabis use for these conditions, while outlining what remains unproven and requires further testing to move the field forward.

  9. Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses

    OpenAIRE

    Won, Hyejung; Mah, Won; Kim, Eunjoon

    2013-01-01

    Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive interests/behaviors. Advances in human genomics have identified a large number of genetic variations associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the patho...

  10. Epigenetics and memory: causes, consequences and treatments for post-traumatic stress disorder and addiction.

    Science.gov (United States)

    Pizzimenti, C L; Lattal, K M

    2015-01-01

    Understanding the interaction between fear and reward at the circuit and molecular levels has implications for basic scientific approaches to memory and for understanding the etiology of psychiatric disorders. Both stress and exposure to drugs of abuse induce epigenetic changes that result in persistent behavioral changes, some of which may contribute to the formation of a drug addiction or a stress-related psychiatric disorder. Converging evidence suggests that similar behavioral, neurobiological and molecular mechanisms control the extinction of learned fear and drug-seeking responses. This may, in part, account for the fact that individuals with post-traumatic stress disorder have a significantly elevated risk of developing a substance use disorder and have high rates of relapse to drugs of abuse, even after long periods of abstinence. At the behavioral level, a major challenge in treatments is that extinguished behavior is often not persistent, returning with changes in context, the passage of time or exposure to mild stressors. A common goal of treatments is therefore to weaken the ability of stressors to induce relapse. With the discovery of epigenetic mechanisms that create persistent molecular signals, recent work on extinction has focused on how modulating these epigenetic targets can create lasting extinction of fear or drug-seeking behavior. Here, we review recent evidence pointing to common behavioral, systems and epigenetic mechanisms in the regulation of fear and drug seeking. We suggest that targeting these mechanisms in combination with behavioral therapy may promote treatment and weaken stress-induced relapse. © 2015 John Wiley & Sons Ltd and International Behavioural and Neural Genetics Society.

  11. Prevalence of Various Reproductive Disorders and Economic Losses Caused by Genital Prolapse in Buffaloes

    Directory of Open Access Journals (Sweden)

    Rasheed A. Rabbani, I. Ahmad*, L. A. Lodhi, N. Ahmad and G. Muhammad1

    2010-01-01

    Full Text Available The present study was conducted to investigate the prevalence of various reproductive disorders and to estimate the economic losses due to genital prolapse in buffaloes in Sir Shamir area of District Faisalabad, Pakistan. The survey was conducted in 8 villages during the 12 months period from June 2005 to May 2006 and the data from 400 farmers (50 farmers from each village were collected. The total buffalo population of this area was 7,785, out of which 2,135 (27.42% animals were included in the study. The overall prevalence of reproductive disorders in buffaloes was recorded as 46.18%. Among all the reproductive disorders, repeat breeding showed the highest prevalence (15.69%, followed by anestrous (9.74%, genital prolapse (7.73%, abortion (5.99%, retained placenta (2.58%, uterine torsion (2.39% and dystocia (2.06%. The total economic losses due to genital prolapse in buffaloes in eight villages during the period of study were estimated to be Rs. 4,59,500/- Among these, the highest losses were due to mortality of dam (39.17%, followed by milk losses (25.14%, service charges (21.33% and medicine cost (14.36%. Thus, repeat breeding, anoestrus and genital prolapse seem to be the major reproductive problems in buffaloes in the study area.

  12. Alpha-CaMKII deficiency causes immature dentate gyrus, a novel candidate endophenotype of psychiatric disorders

    Directory of Open Access Journals (Sweden)

    Yamasaki Nobuyuki

    2008-09-01

    Full Text Available Abstract Elucidating the neural and genetic factors underlying psychiatric illness is hampered by current methods of clinical diagnosis. The identification and investigation of clinical endophenotypes may be one solution, but represents a considerable challenge in human subjects. Here we report that mice heterozygous for a null mutation of the alpha-isoform of calcium/calmodulin-dependent protein kinase II (alpha-CaMKII+/- have profoundly dysregulated behaviours and impaired neuronal development in the dentate gyrus (DG. The behavioral abnormalities include a severe working memory deficit and an exaggerated infradian rhythm, which are similar to symptoms seen in schizophrenia, bipolar mood disorder and other psychiatric disorders. Transcriptome analysis of the hippocampus of these mutants revealed that the expression levels of more than 2000 genes were significantly changed. Strikingly, among the 20 most downregulated genes, 5 had highly selective expression in the DG. Whereas BrdU incorporated cells in the mutant mouse DG was increased by more than 50 percent, the number of mature neurons in the DG was dramatically decreased. Morphological and physiological features of the DG neurons in the mutants were strikingly similar to those of immature DG neurons in normal rodents. Moreover, c-Fos expression in the DG after electric footshock was almost completely and selectively abolished in the mutants. Statistical clustering of human post-mortem brains using 10 genes differentially-expressed in the mutant mice were used to classify individuals into two clusters, one of which contained 16 of 18 schizophrenic patients. Nearly half of the differentially-expressed probes in the schizophrenia-enriched cluster encoded genes that are involved in neurogenesis or in neuronal migration/maturation, including calbindin, a marker for mature DG neurons. Based on these results, we propose that an "immature DG" in adulthood might induce alterations in behavior and

  13. Absence of relation between sick leave caused by musculoskeletal disorders and exposure to magnetic fields in an aluminum plant

    Energy Technology Data Exchange (ETDEWEB)

    Moen, B.E. [Univ. of Bergen (Norway). Div. of Occupational Medicine; Drabloes, P.A.; Pedersen, S.; Sjoeen, M. [Norsk Hydro Karmoey Fabrikker, Haavik (Norway); Thommesen, G. [Norwegian Radiation Protection Authority, Oesteraes (Norway)

    1996-04-01

    This is a study of the relationship between occupational exposure to magnetic fields in pot rooms and occurrence of sick leave caused by musculoskeletal disorders. The average exposure to static magnetic fields was 8 mT in the pot rooms. Ripple fields were recorded as well. A cohort of 342 exposed workers and 222 unexposed workers from the same electrolysis plant was retrospectively followed for 5 years. The reference group has a type of work similar to the exposed group except for the expose to magnetic fields. The occurrence of sick leave and the diagnoses causing the sick leave were obtained from the Occupational Health Care Unit: these data were stored in their computer files. The data were complete. No relationship between the occurrence of sick leave caused by musculoskeletal disorders and exposure to magnetic fields was found. This was the case for both the annual number of periods of sick leave and the total number of days with sick leave. The results must be interpreted with caution due to limitations in the design and available data. Also, static magnetic fields constituted the major exposure, and the results may be different when related to work in other types of magnetic-field exposure.

  14. [Depressive disorders in dementia and mild cognitive impairments: is comorbidity a cause or a risk factor?].

    Science.gov (United States)

    Preuss, U W; Siafarikas, N; Petrucci, M; Wong, W M

    2009-07-01

    Both depression and dementia occur by themselves or together in elderly subjects aged 65 and above. The aim of this review is to discuss several hypotheses which try to explain the frequent co-occurrence exceeding chance alone, based on a systematic literature search. A series of studies revealed potential biological similarities between both disorders which, however, were not found in all investigations. Lifetime history of depression can be considered as a distant risk factor for dementias. Depression occurs most frequently within one year before and after the onset of dementia, in which the association between both disorders is probably strongest. In a subgroup of subjects with more "cognitive reserve", depression was found to be a consequence of patient's realisation of beginning cognitive deficits. Several studies indicate that depression in Alzheimer and other dementia forms can be considered as a separate disease entity, as the clinical syndrome differs from depression in earlier periods of life. Studies on the therapy of depression in dementia have aroused increasing interest in recent years. Herewith, certain guidelines in the treatment of older patients with antidepressants must be followed.

  15. [Does mobbing cause posttraumatic stress disorder? Impact of coping and personality].

    Science.gov (United States)

    Kreiner, Barbara; Sulyok, Christoph; Rothenhäusler, Hans-Bernd

    2008-01-01

    Previous research has documented that a variety of anxiety, depressive, and psychosomatic symptoms are present in a substantial portion of mobbing victims. This study aimed to explore the frequency of posttraumatic stress disorder (PTSD) among mobbing victims, and to investigate how PTSD was linked to pertinent psychometric scales. We recruited 20 mobbing victims and conducted the Structural Clinical Interview (SCID) to assess PTSD according to DSM-IV criteria. The trauma criterion was homogeneously defined as mobbing. 55% of our entire sample had a current PTSD, and 70% suffered from severe posttraumatic stress symptoms according to the Impact of Event Scale. Using multivariate analysis of variance (MANOVA), we found that mobbing victims with a current PTSD tended to demonstrate higher levels of stress and depressive symptoms, and less quality of life (SF 36 Short-Form Health Survey), especially in terms of bodily pain, compared with those without a PTSD diagnosis. No significant differences in personality factors (Freiburg Personality Inventory) between mobbing-victims with and without PTSD were evident by multivariate analysis. Univariate statistics, however, revealed that mobbing-related PTSD showed a trend towards higher scores in social orientation and somatic complaints. There was no general evidence that mobbing victims with a PTSD used more often negative and positive coping strategies (SVF - Stress Coping Questionnaire). However, they showed a tendency to employ control strategies, avoidance, social withdrawal, and cognitive preoccupation. Posttraumatic stress disorder subsequent to mobbing can occur frequently. PTSD therefore should be specifically considered in routine care.

  16. Relative variations of gut microbiota in disordered cholesterol metabolism caused by high-cholesterol diet and host genetics.

    Science.gov (United States)

    Bo, Tao; Shao, Shanshan; Wu, Dongming; Niu, Shaona; Zhao, Jiajun; Gao, Ling

    2017-08-01

    Recent studies performed provide mechanistic insight into effects of the microbiota on cholesterol metabolism, but less focus was given to how cholesterol impacts the gut microbiota. In this study, ApoE(-/-) Sprague Dawley (SD) rats and their wild-type counterparts (n = 12) were, respectively, allocated for two dietary condition groups (normal chow and high-cholesterol diet). Total 16S rDNA of fecal samples were extracted and sequenced by high-throughput sequencing to determine differences in microbiome composition. Data were collected and performed diversity analysis and phylogenetic analysis. The influence of cholesterol on gut microbiota was discussed by using cholesterol dietary treatment as exogenous cholesterol disorder factor and genetic modification as endogenous metabolic disorder factor. Relative microbial variations were compared to illustrate the causality and correlation of cholesterol and gut microbiota. It turned out comparing to genetically modified rats, exogenous cholesterol intake may play more effective role in changing gut microbiota profile, although the serum cholesterol level of genetically modified rats was even higher. Relative abundance of some representative species showed that the discrepancies due to dietary variation were more obvious, whereas some low abundance species changed because of genetic disorders. Our results partially demonstrated that gut microbiota are relatively more sensitive to dietary variation. Nevertheless, considering the important effect of bacteria in cholesterol metabolism, the influence to gut flora by "genetically caused cholesterol disorder" cannot be overlooked. Manipulation of gut microbiota might be an effective target for preventing cholesterol-related metabolic disorders. © 2017 The Authors. MicrobiologyOpen published by John Wiley & Sons Ltd.

  17. Mortality from Musculoskeletal Disorders Including Rheumatoid Arthritis in Southern Sweden: A Multiple-cause-of-death Analysis, 1998-2014.

    Science.gov (United States)

    Kiadaliri, Aliasghar A; Turkiewicz, Aleksandra; Englund, Martin

    2017-05-01

    To assess mortality related to musculoskeletal (MSK) disorders and rheumatoid arthritis (RA), specifically, among adults (aged ≥ 20 yrs) in southern Sweden using the multiple-cause-of-death approach. All death certificates (DC; n = 201,488) from 1998 to 2014 for adults in the region of Skåne were analyzed when mortality from MSK disorders and RA was listed as the underlying and nonunderlying cause of death (UCD/NUCD). Trends in age-standardized mortality rates (ASMR) were evaluated using joinpoint regression, and associated causes were identified by age- and sex-adjusted observed/expected ratios. MSK (RA) was mentioned on 2.8% (0.8%) of all DC and selected as UCD in 0.6% (0.2%), with higher values among women. Proportion of MSK disorder deaths from all deaths increased from 2.7% in 1998 to 3.1% in 2014, and declined from 0.9% to 0.5% for RA. The mean age at death was higher in DC with mention of MSK/RA than in DC without. The mean ASMR for MSK (RA) was 15.5 (4.3) per 100,000 person-years and declined by 1.1% (3.8%) per year during 1998-2014. When MSK/RA were UCD, pneumonia and heart failure were the main NUCD. When MSK/RA were NUCD, the leading UCD were ischemic heart disease and neoplasms. The greatest observed/expected ratios were seen for infectious diseases (including sepsis) and blood diseases. We observed significant reduction in MSK and RA mortality rates and increase in the mean age at death. Further analyses are required to investigate determinants of these improvements in MSK/RA survival and their potential effect on the Swedish healthcare systems.

  18. Evaluation of workforce perceptions as a means to identify and mitigate the causes of musculoskeletal disorders.

    Science.gov (United States)

    2010-01-01

    An analysis of workers compensation data showed that five job classifications accounted for over 93% of all cases. This analysis also showed that 48% of the cases resulted in sprains and strains, and 70% of those cases were caused by over-exertion...

  19. NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina

    NARCIS (Netherlands)

    Segarra, Nuria Garcia; Ballhausen, Diana; Crawford, Heather; Perreau, Matthieu; Campos-Xavier, Belinda; van Spaendonck-Zwarts, Karin; Vermeer, Cees; Russo, Michel; Zambelli, Pierre-Yves; Stevenson, Brian; Royer-Bertrand, Beryl; Rivolta, Carlo; Candotti, Fabio; Unger, Sheila; Munier, Francis L.; Superti-Furga, Andrea; Bonafé, Luisa

    2015-01-01

    We report two unrelated patients with a multisystem disease involving liver, eye, immune system, connective tissue, and bone, caused by biallelic mutations in the neuroblastoma amplified sequence (NBAS) gene. Both presented as infants with recurrent episodes triggered by fever with vomiting,

  20. Schizoaffective disorder

    Science.gov (United States)

    Mood disorder - schizoaffective disorder; Psychosis - schizoaffective disorder ... The exact cause of schizoaffective disorder is unknown. Changes in genes and chemicals in the brain (neurotransmitters) may play a role. Schizoaffective disorder is thought to ...

  1. Genetic deficiency of the mitochondrial protein PGAM5 causes a Parkinson's-like movement disorder.

    Science.gov (United States)

    Lu, Wei; Karuppagounder, Senthilkumar S; Springer, Danielle A; Allen, Michele D; Zheng, Lixin; Chao, Brittany; Zhang, Yan; Dawson, Valina L; Dawson, Ted M; Lenardo, Michael

    2014-09-15

    Mitophagy is a specialized form of autophagy that selectively disposes of dysfunctional mitochondria. Delineating the molecular regulation of mitophagy is of great importance because defects in this process lead to a variety of mitochondrial diseases. Here we report that mice deficient for the mitochondrial protein, phosphoglycerate mutase family member 5 (PGAM5), displayed a Parkinson's-like movement phenotype. We determined biochemically that PGAM5 is required for the stabilization of the mitophagy-inducing protein PINK1 on damaged mitochondria. Loss of PGAM5 disables PINK1-mediated mitophagy in vitro and leads to dopaminergic neurodegeneration and mild dopamine loss in vivo. Our data indicate that PGAM5 is a regulator of mitophagy essential for mitochondrial turnover and serves a cytoprotective function in dopaminergic neurons in vivo. Moreover, PGAM5 may provide a molecular link to study mitochondrial homeostasis and the pathogenesis of a movement disorder similar to Parkinson's disease.

  2. Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses

    Directory of Open Access Journals (Sweden)

    Hyejung eWon

    2013-08-01

    Full Text Available Autism spectrum disorder (ASD is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive inter-ests/behaviors. Advances in human genomics have identified a large number of genetic varia-tions associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the pathogenesis of ASD, many of which involve synaptic dysfunctions, and have investigated novel, mechanism-based therapeutic strategies. This review will try to integrate these three key aspects of ASD research: human genetics, animal models, and potential treatments. Continued efforts in this direction should ultimately reveal core mechanisms that account for a larger fraction of ASD cases and identify neural mechanisms associated with specific ASD symptoms, providing important clues to efficient ASD treatment.

  3. Autism spectrum disorder causes, mechanisms, and treatments: focus on neuronal synapses.

    Science.gov (United States)

    Won, Hyejung; Mah, Won; Kim, Eunjoon

    2013-01-01

    Autism spectrum disorder (ASD) is a group of developmental disabilities characterized by impairments in social interaction and communication and restricted and repetitive interests/behaviors. Advances in human genomics have identified a large number of genetic variations associated with ASD. These associations are being rapidly verified by a growing number of studies using a variety of approaches, including mouse genetics. These studies have also identified key mechanisms underlying the pathogenesis of ASD, many of which involve synaptic dysfunctions, and have investigated novel, mechanism-based therapeutic strategies. This review will try to integrate these three key aspects of ASD research: human genetics, animal models, and potential treatments. Continued efforts in this direction should ultimately reveal core mechanisms that account for a larger fraction of ASD cases and identify neural mechanisms associated with specific ASD symptoms, providing important clues to efficient ASD treatment.

  4. The two fold role of oxytocin in social developmental disorders: A cause and a remedy?

    Science.gov (United States)

    Lefevre, Arthur; Sirigu, Angela

    2016-04-01

    Oxytocin is widely used by obstetricians to induce or facilitate labor. The long lasting consequences of oxytocin administration remain however unknown. Here, we discuss recent evidence suggesting a link between oxytocin labor induction and developmental social impairments such as autism spectrum disorders (ASD). Because these associations are methodologically questionable, we provide a review of animal studies investigating the long term effects of neonatal injection of oxytocin to shed light on the biological mechanisms that mediate the contribution of early oxytocin supplementation on the development of social impairments. In contrast to this potential negative impact on development, oxytocin has been shown to ameliorate social skills of ASD patients. However, results of chronic oxytocin administration from animal experiments are contradictory. We also review recent studies looking at chronic oxytocin effects in animal and in humans. Obstetric and psychiatric uses of exogenous oxytocin both impact on oxytocinergic neurotransmission but the effects may be sharply dissimilar. Copyright © 2016. Published by Elsevier Ltd.

  5. Severe methylenetetrahydrofolate reductase deficiency: clinical clues to a potentially treatable cause of adult-onset hereditary spastic paraplegia.

    Science.gov (United States)

    Lossos, Alexander; Teltsh, Omri; Milman, Tsipi; Meiner, Vardiella; Rozen, Rima; Leclerc, Daniel; Schwahn, Bernd C; Karp, Natalya; Rosenblatt, David S; Watkins, David; Shaag, Avraham; Korman, Stanley H; Heyman, Samuel N; Gal, Aya; Newman, J P; Steiner-Birmanns, Bettina; Abramsky, Oded; Kohn, Yoav

    2014-07-01

    Hereditary spastic paraplegia is a highly heterogeneous group of neurogenetic disorders with pure and complicated clinical phenotypes. No treatment is available for these disorders. We identified 2 unrelated families, each with 2 siblings with severe methylenetetrahydrofolate reductase (MTHFR) deficiency manifesting a complicated form of adult-onset hereditary spastic paraparesis partially responsive to betaine therapy. Both pairs of siblings presented with a similar combination of progressive spastic paraparesis and polyneuropathy, variably associated with behavioral changes, cognitive impairment, psychosis, seizures, and leukoencephalopathy, beginning between the ages of 29 and 50 years. By the time of diagnosis a decade later, 3 patients were ambulatory and 1 was bedridden. Investigations have revealed severe hyperhomocysteinemia and hypomethioninemia, reduced fibroblast MTHFR enzymatic activity (18%-52% of control participants), and 3 novel pathogenic MTHFR mutations, 2 as compound heterozygotes in one family and 1 as a homozygous mutation in the other family. Treatment with betaine produced a rapid decline of homocysteine by 50% to 70% in all 4 patients and, over 9 to 15 years, improved the conditions of the 3 ambulatory patients. Although severe MTHFR deficiency is a rare cause of complicated spastic paraparesis in adults, it should be considered in select patients because of the potential therapeutic benefit of betaine supplementation.

  6. 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.

  7. [Metastases in the temporomandibular joint: a review from 1954 to 2013. Rare causes for temporomandibular disorders].

    Science.gov (United States)

    Pretzl, Christine; Lübbers, Heinz-Theo; Grätz, Klaus W; Kruse, Astrid L

    2014-01-01

    Metastatic lesions make up approximately 1% of all oral cancers.A comparatively rare location is the temporomandibular joint.Leading symptoms can be misdirecting, especially in the beginning,because they are frequently similar or even identical to those occurring in temporomandibular disorders. Therefore it can be quite difficult to confirm the diagnosis of a TMJ metastasis.delayed initiation of therapy and thus a poor prognosis are often the results. A review of the literature from 1954 to 2013 was realized and the published cases between 1954 and January 2013 were evaluated.The results were analyzed according to gender distribution, age,first symptoms, location of the primary tumor, as well as to the occurrence of malignancies in the patients' medical history. The research identified sixty-six patients. Tumors of the lung and breast were the main starting points of the metastatic spread. The histopathological workup showed above all the diagnosis of an adenocarcinoma. In all of the cases, unspecific symptoms led to the diagnosis of a metastatic disease. In the case of nonspecific TMJ affection, diagnostics should consider less-frequent diagnoses, such as the presence of metastasis.A clinical differentiation by additional symptoms like swelling, unexplained weight loss and night sweats, as well as a tumor disease in the past or failure of conservative treatment can provide additional indications. If there is reasonable suspicion,extended medical imaging and diagnostic measures must be performed to allow early treatment initiation and a better prognosis.

  8. Effects of acupuncture on the symptoms of anxiety and depression caused by premenstrual dysphoric disorder.

    Science.gov (United States)

    Carvalho, Fabiana; Weires, Kelly; Ebling, Márcia; Padilha, Maristela de Souza Rabbo; Ferrão, Ygor Arzeno; Vercelino, Rafael

    2013-12-01

    The objective of this investigation was to evaluate the effects of acupuncture and sham acupuncture on the symptoms of anxiety and depression brought on by premenstrual dysphoric disorder (PMDD). In a single-blind randomised clinical trial, 30 volunteers with PMDD were assigned alternately to group 1 (acupuncture) or group 2 (sham acupuncture), and completed an evaluation of symptoms of anxiety and depression using the Hamilton Anxiety (HAM-A) and Hamilton Depression (HAM-D) Rating Scales. The procedure was performed twice a week for two menstrual cycles, for a total of 16 attendances for each participant. Before the intervention the mean HAM-A and HAM-D scores did not differ between groups. Following the intervention symptoms of anxiety and depression were reduced in both groups; however, the improvement was significant in group 1 compared to group 2, as shown by a mean reduction in HAM-A scores of 58.9% in group 1 and 21.2% in group 2 (pacupuncture could be another treatment option for PMDD patients.

  9. Mortality and causes of death in autism spectrum disorders - An update

    DEFF Research Database (Denmark)

    Mouridsen, S.E.; Hansen, H.B.; Rich, B.

    2008-01-01

    was particularly high in females. The excess mortality risk has remained unchanged since our first study in 1993. Eight of the 26 deaths were associated with epilepsy and four died from epilepsy. Future staff education should focus on better managing of the complex relationships between ASD and physical illness...... to mortality and causes of death. Standardized mortality ratios (SMRs) were calculated for various times after diagnosis. In all, 26 persons with ASD had died, whereas the expected number of deaths was 13.5. Thus the mortality risk among those with ASD was nearly twice that of the general population. The SMR...... to prevent avoidable deaths Udgivelsesdato: 2008/7...

  10. Mortality and causes of death in autism spectrum disorders: An update

    DEFF Research Database (Denmark)

    Mouridsen, Svend Erik; Brønnum-Hansen, Henrik; Rich, Bente

    2008-01-01

    was particularly high in females. The excess mortality risk has remained unchanged since our first study in 1993. Eight of the 26 deaths were associated with epilepsy and four died from epilepsy. Future staff education should focus on better managing of the complex relationships between ASD and physical illness...... to mortality and causes of death. Standardized mortality ratios (SMRs) were calculated for various times after diagnosis. In all, 26 persons with ASD had died, whereas the expected number of deaths was 13.5. Thus the mortality risk among those with ASD was nearly twice that of the general population. The SMR...... to prevent avoidable deaths....

  11. Perseveration causes automatization of checking behavior in obsessive-compulsive disorder.

    Science.gov (United States)

    Dek, Eliane C P; van den Hout, Marcel A; Engelhard, Iris M; Giele, Catharina L; Cath, Danielle C

    2015-08-01

    Repeated checking leads to reductions in meta-memory (i.e., memory confidence, vividness and detail), and automatization of checking behavior (Dek, van den Hout, Giele, & Engelhard, 2014, 2015). Dek et al. (2014) suggested that this is caused by increased familiarity with the checked stimuli. They predicted that defamiliarization of checking by modifying the perceptual characteristics of stimuli would cause de-automatization and attenuate the negative meta-memory effects of re-checking. However, their results were inconclusive. The present study investigated whether repeated checking leads to automatization of checking behavior, and if defamiliarization indeed leads to de-automatization and attenuation of meta-memory effects in patients with OCD and healthy controls. Participants performed a checking task, in which they activated, deactivated and checked threat-irrelevant stimuli. During a pre- and post-test checking trial, check duration was recorded and a reaction time task was simultaneously administered as dual-task to assess automatization. After the pre- and post-test checking trial, meta-memory was rated. Results showed that relevant checking led to automatization of checking behavior on the RT measure, and negative meta-memory effects for patients and controls. Defamiliarization led to de-automatization measured with the RT task, but did not attenuate the negative meta-memory effects of repeated checking. Clinical implications are discussed. Copyright © 2015 Elsevier Ltd. All rights reserved.

  12. Kleine-Levin Syndrome in an 8-Year-Old Girl with Autistic Disorder: Does Autism Account a Primary or Secondary Cause?

    Science.gov (United States)

    Hakim Shoushtari, Mitra; Ghalebandi, Mirfarhad; Tavasoli, Azita; Pourshams, Maryam

    2015-01-01

    Objective Kleine-Levin syndrome (KLS) is a rare disorder with an unknown etiology. Autism spectrum disorder is characterized by various degrees of impairment in social communication, repetitive behavior and restricted interests. Only four patients of KLS with autistic spectrum disorder (ASD) have been reported so far. This report presents an 8-year-old girl with history of autistic disorder and epilepsy that superimposed KLS. Because of the rarity of KLS and related studies did not address whether autism accounts for a primary or secondary cause, the area required attention further studies.

  13. mTOR Inhibition Subdues Milk Disorder Caused by Maternal VLDLR Loss

    Directory of Open Access Journals (Sweden)

    HoangDinh Huynh

    2017-06-01

    Full Text Available It is unknown whether and how very-low density lipoprotein receptors (VLDLRs impact skeletal homeostasis. Here, we report that maternal and offspring VLDLRs play opposite roles in osteoclastogenesis and bone resorption. VLDLR deletion in the offspring augments osteoclast differentiation by enhancing RANKL signaling, leading to osteoporosis. In contrast, VLDLR deletion in the mother alters milk metabolism, which inhibits osteoclast differentiation and causes osteopetrosis in the offspring. The maternal effects are dominant. VLDLR-null lactating mammary gland exhibits higher mTORC1 signaling and cholesterol biosynthesis. Pharmacological probing reveals that rapamycin, but not statin, treatment of the VLDLR-null mother can prevent both the low bone resorption and our previously described inflammatory fur loss in their offspring. Genetic rescue reveals that maternal mTORC1 attenuation in adipocytes, but not in myeloid cells, prevents offspring osteopetrosis and fur loss. Our studies uncover functions of VLDLR and mTORC1 in lactation and osteoclastogenesis, illuminating key mechanisms and therapeutic insights for bone and metabolic diseases.

  14. Clinical Studies on Treatment of Earthquake-Caused Posttraumatic Stress Disorder Using Electroacupuncture

    Directory of Open Access Journals (Sweden)

    Yu Wang

    2012-01-01

    Full Text Available The objective of this study was to assess the efficacy and safety of electroacupuncture in 138 patients with earthquake-caused PTSD using Randomized Controlled Trials (RCTs. 138 cases enrolled were randomly assigned to an electro-acupuncture group and a paroxetine group. The electro-acupuncture group was treated by scalp electro-acupuncture on Baihui (GV 20, Sishencong (EX-HN 1, Shenting (GV 24, and Fengchi (GB 20, and the paroxetine group was treated with simple oral administration of paroxetine. The efficacy and safety of the electro-acupuncture on treatment of 69 PTSD patients were evaluated using Clinician-Administered PTSD Scale (CAPS, Hamilton Depression Scale (HAMD, Hamilton Anxiety Scale (HAMA, and Treatment Emergent Symptom Scale (TESS according to clinical data. The total scores of CAPS, HAMD, and HAMA in the two groups after treatment showed significant efficacy compared to those before treatment. The comparison of reduction in the scores of CAPS, HAMD, and HAMA between the two groups suggested that the efficacy in the treated group was better than that in the paroxetine group. The present study suggested that the electro-acupuncture and paroxetine groups have significant changes in test PTSD, but the electro-acupuncture 2 group was more significant.

  15. Excess Mortality, Causes of Death and Life Expectancy in 270,770 Patients with Recent Onset of Mental Disorders in Denmark, Finland and Sweden

    Science.gov (United States)

    Nordentoft, Merete; Wahlbeck, Kristian; Hällgren, Jonas; Westman, Jeanette; Ösby, Urban; Alinaghizadeh, Hassan; Gissler, Mika; Laursen, Thomas Munk

    2013-01-01

    Background Excess mortality among patients with severe mental disorders has not previously been investigated in detail in large complete national populations. Objective To investigate the excess mortality in different diagnostic categories due to suicide and other external causes of death, and due to specific causes in connection with diseases and medical conditions. Methods In longitudinal national psychiatric case registers from Denmark, Finland, and Sweden, a cohort of 270,770 recent-onset patients, who at least once during the period 2000 to 2006 were admitted due to a psychiatric disorder, were followed until death or the end of 2006. They were followed for 912,279 person years, and 28,088 deaths were analyzed. Life expectancy and standardized cause-specific mortality rates were estimated in each diagnostic group in all three countries. Results The life expectancy was generally approximately 15 years shorter for women and 20 years shorter for men, compared to the general population. Mortality due to diseases and medical conditions was increased two- to three-fold, while excess mortality from external causes ranged from three- to 77-fold. Mortality due to diseases and medical conditions was generally lowest in patients with affective disorders and highest in patients with substance abuse and personality disorders, while mortality due to suicide was highest in patients with affective disorders and personality disorders, and mortality due to other external causes was highest in patients with substance abuse. Conclusions These alarming figures call for action in order to prevent the high mortality. PMID:23372832

  16. Evaluation of risk factors causing work - related musculoskeletal disorders (WMSDS in kerman bakery workers by OCRAIndex method

    Directory of Open Access Journals (Sweden)

    H.R. Ghashghav

    2009-10-01

    Full Text Available Background and aimsthe musculoskeletal disorders over a large percent of occupational  diseases ; therefore, in order to protect workers from such disorders, there is a need to evaluate workers positions at work in different jobs. There are several methods to evaluate risk factors causing work - related musculoskeletal disorders. this study perform on bakers population of four different types of bakeries(Tafton davar,Tafton sonnati,sangak and baget and we evaluated WMSDs causal risk factors by OCRA Index technique.MethodsIn this research four data gathering methods including observational ,interview,questioner and check list were utilized. Totally 423 samples by proportional cluster samplingmethod collected and we used spss15 soft ware for statistical analysisResultsThe results of this investigation demonstrated that maximum mean value of OCRA index in left and right hands were related to shatery task in sangak bakery (OCRAI index=14.99.finally,56.5,67.4,77.3 and 75 percent of all tasks at Tafton davar,Tafton sonnati,sangak and baget bakeries respectively were in the red area also our results showed that only ,left and right hands OCRA index means of nandari , forushandegi and nandara/forushandegi tasks were equivalent.Conclusionwith regarding to this point that major of tasks in the bakery job locate in the red zone therefore attention to this problem is necessary and use of ergonomics controls to eliminate or reduce exposure of workers to the ergonomics stressors associated with the development ofWMSDs is recommended

  17. Persistent reflux symptoms cause anxiety, depression, and mental health and sleep disorders in gastroesophageal reflux disease patients.

    Science.gov (United States)

    Kimura, Yoshihide; Kamiya, Takeshi; Senoo, Kyouji; Tsuchida, Kenji; Hirano, Atsuyuki; Kojima, Hisayo; Yamashita, Hiroaki; Yamakawa, Yoshihiro; Nishigaki, Nobuhiro; Ozeki, Tomonori; Endo, Masatsugu; Nakanishi, Kazuhisa; Sando, Motoki; Inagaki, Yusuke; Shikano, Michiko; Mizoshita, Tsutomu; Kubota, Eiji; Tanida, Satoshi; Kataoka, Hiromi; Katsumi, Kohei; Joh, Takashi

    2016-07-01

    Some patients with gastroesophageal reflux disease experience persistent reflux symptoms despite proton pump inhibitor therapy. These symptoms reduce their health-related quality of life. Our aims were to evaluate the relationship between proton pump inhibitor efficacy and health-related quality of life and to evaluate predictive factors affecting treatment response in Japanese patients. Using the gastroesophageal reflux disease questionnaire, 145 gastroesophageal reflux disease patients undergoing proton pump inhibitor therapy were evaluated and classified as responders or partial-responders. Their health-related quality of life was then evaluated using the 8-item Short Form Health Survey, the Pittsburgh Sleep Quality Index, and the Hospital Anxiety and Depression Scale questionnaires. Sixty-nine patients (47.6%) were partial responders. These patients had significantly lower scores than responders in 5/8 subscales and in the mental health component summary of the 8-item Short Form Health Survey. Partial responders had significantly higher Pittsburgh Sleep Quality Index and Hospital Anxiety and Depression Scale scores, including anxiety and depression scores, than those of responders. Non-erosive reflux disease and double proton pump inhibitor doses were predictive factors of partial responders. Persistent reflux symptoms, despite proton pump inhibitor therapy, caused mental health disorders, sleep disorders, and psychological distress in Japanese gastroesophageal reflux disease patients.

  18. Correlation of the anxiety caused by postoperative chemotherapy with endocrine disorder and immune response in patients with colorectal cancer

    Institute of Scientific and Technical Information of China (English)

    Xin Zhang

    2017-01-01

    Objective:To study the correlation of the anxiety caused by postoperative chemotherapy with endocrine disorder and immune response in patients with colorectal cancer.Methods:A total of 110 patients who received radical operation for colorectal cancer and postoperative chemotherapy in the hospital between August 2014 and December 2016 were divided into the non-anxiety group (SAS<50 points) (n=29), mild-to-moderate anxiety group (50≤SAS≤69) (n=63) and severe anxiety group (SAS 70 points) (n=18) according to self-rating anxiety scale (SAS) score after one course of chemotherapy. The differences in the levels of RAAS indexes, monoamine neurotransmitters, Th1/Th2 cytokines and Th17/Treg cytokines were compared among three groups of patients before and after chemotherapy.Results: Before chemotherapy, the differences in serum levels of RAAS indexes, monoamine neurotransmitters, Th1/Th2 cytokines and Th17/Treg cytokines were not statistically significant among the three groups of patients. After one course of chemotherapy, serum RAAS indexes REN, AngⅡ and ALD levels of mild-to-moderate anxiety group and severe anxiety group were higher than those of non-anxiety group; monoamine neurotransmitters NE and DA levels were higher than those of no anxiety group; serum IL-2 level was higher than that of non-anxiety group while IL-4 level was lower than that of non-anxiety group; serum IL-17 level was higher than of non-anxiety group while IL-10 was lower than that of non-anxiety group; the changes in serum levels of the above indexes of severe anxiety group were greater than those of mild-to-moderate anxiety group.Conclusion: The anxiety caused by postoperative chemotherapy in patients with colorectal cancer can directly lead to the endocrine disorder and the decrease of cellular immune function, and the negative changes increase with the aggravation of anxiety.

  19. Parent Beliefs about the Causes of Learning and Developmental Problems among Children with Autism Spectrum Disorder: Results from a National Survey

    Science.gov (United States)

    Zuckerman, Katharine E.; Lindly, Olivia J.; Sinche, Brianna

    2016-01-01

    This study aimed to assess variation in parent beliefs about causes of learning and developmental problems in U.S. children with autism spectrum disorder, using data from a nationally representative survey. Results showed that beliefs about a genetic/hereditary cause of learning/developmental problems were most common, but nearly as many parents…

  20. Molecular basis of genetic neuropsychiatric disorders.

    Science.gov (United States)

    Venkitaramani, Deepa V; Lombroso, Paul J

    2007-07-01

    The past decade has seen tremendous advances in our understanding of the molecular and genetic basis of many neuropsychiatric disorders. Although the genetic aberrations that lead to these syndromes have been identified in many cases, not much is known about specific gene products and their function. This article reviews the molecular basis of well-known neurogenetic disorders. The syndromes discussed here follow a Mendelian pattern of inheritance and are predominantly single-gene disorders; however, most childhood and adolescent psychiatric disorders are polygenic in nature. This genetic complexity and heterogeneity has made it difficult to identify the genes involved in their etiology. Identification of genetic and environmental risk factors involved in the etiology of complex disorders, such as autism, will help in the discovery of medications that can ameliorate the symptoms.

  1. Parent Beliefs about the Causes of Learning and Developmental Problems among Children with Autism Spectrum Disorder: Results from a National Survey

    OpenAIRE

    Zuckerman, Katharine E.; Lindly, Olivia J.; Sinche, Brianna

    2016-01-01

    This study aimed to assess variation in parent beliefs about causes of learning and developmental problems in U.S. children with autism spectrum disorder, using data from a nationally-representative survey. Results showed that beliefs about a genetic/hereditary cause of learning/developmental problems were most common, but nearly as many parents believed in exposure causes. 40% of parents had no definite causal beliefs. On multivariate analysis, parents who were non-white, p...

  2. Canine disorder mirrors human disease: exonic deletion in HES7 causes autosomal recessive spondylocostal dysostosis in miniature Schnauzer dogs.

    Directory of Open Access Journals (Sweden)

    Cali E Willet

    Full Text Available Spondylocostal dysostosis is a congenital disorder of the axial skeleton documented in human families from diverse racial backgrounds. The condition is characterised by truncal shortening, extensive hemivertebrae and rib anomalies including malalignment, fusion and reduction in number. Mutations in the Notch signalling pathway genes DLL3, MESP2, LFNG, HES7 and TBX6 have been associated with this defect. In this study, spondylocostal dysostosis in an outbred family of miniature schnauzer dogs is described. Computed tomography demonstrated that the condition mirrors the skeletal defects observed in human cases, but unlike most human cases, the affected dogs were stillborn or died shortly after birth. Through gene mapping and whole genome sequencing, we identified a single-base deletion in the coding region of HES7. The frameshift mutation causes loss of functional domains essential for the oscillatory transcriptional autorepression of HES7 during somitogenesis. A restriction fragment length polymorphism test was applied within the immediate family and supported a highly penetrant autosomal recessive mode of inheritance. The mutation was not observed in wider testing of 117 randomly sampled adult miniature schnauzer and six adult standard schnauzer dogs; providing a significance of association of Praw = 4.759e-36 (genome-wide significant. Despite this apparently low frequency in the Australian population, the allele may be globally distributed based on its presence in two unrelated sires from geographically distant locations. While isolated hemivertebrae have been observed in a small number of other dog breeds, this is the first clinical and genetic diagnosis of spontaneously occurring spondylocostal dysostosis in a non-human mammal and offers an excellent model in which to study this devastating human disorder. The genetic test can be utilized by dog breeders to select away from the disease and avoid unnecessary neonatal losses.

  3. Neurogenetics of birdsong

    DEFF Research Database (Denmark)

    Scharff, Constance; Adam, Iris

    2013-01-01

    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......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...

  4. The Relationship between the Expression of Ethylene-Related Genes and Papaya Fruit Ripening Disorder Caused by Chilling Injury

    Science.gov (United States)

    Zou, Yuan; Zhang, Lin; Rao, Shen; Zhu, Xiaoyang; Ye, Lanlan; Chen, Weixin; Li, Xueping

    2014-01-01

    Papaya (Carica papaya L.) is sensitive to low temperature and easy to be subjected to chilling injury, which causes fruit ripening disorder. This study aimed to investigate the relationship between the expression of genes related to ethylene and fruit ripening disorder caused by chilling injury. Papaya fruits were firstly stored at 7°C and 12°C for 25 and 30 days, respectively, then treated with exogenous ethylene and followed by ripening at 25°C for 5 days. Chilling injury symptoms such as pulp water soaking were observed in fruit stored at 7°C on 20 days, whereas the coloration and softening were completely blocked after 25 days, Large differences in the changes in the expression levels of twenty two genes involved in ethylene were seen during 7°C-storage with chilling injury. Those genes with altered expression could be divided into three groups: the group of genes that were up-regulated, including ACS1/2/3, EIN2, EIN3s/EIL1, CTR1/2/3, and ERF1/3/4; the group of genes that were down-regulated, including ACO3, ETR1, CTR4, EBF2, and ERF2; and the group of genes that were un-regulated, including ACO1/2, ERS, and EBF1. The results also showed that pulp firmness had a significantly positive correlation with the expression of ACS2, ACO1, CTR1/4, EIN3a/b, and EBF1/2 in fruit without chilling injury. This positive correlation was changed to negative one in fruit after storage at 7°C for 25 days with chilling injury. The coloring index displayed significantly negative correlations with the expression levels of ACS2, ACO1/2, CTR4, EIN3a/b, ERF3 in fruit without chilling injury, but these correlations were changed into the positive ones in fruit after storage at 7°C for 25 days with chilling injury. All together, these results indicate that these genes may play important roles in the abnormal softening and coloration with chilling injury in papaya. PMID:25542021

  5. The relationship between the expression of ethylene-related genes and papaya fruit ripening disorder caused by chilling injury.

    Science.gov (United States)

    Zou, Yuan; Zhang, Lin; Rao, Shen; Zhu, Xiaoyang; Ye, Lanlan; Chen, Weixin; Li, Xueping

    2014-01-01

    Papaya (Carica papaya L.) is sensitive to low temperature and easy to be subjected to chilling injury, which causes fruit ripening disorder. This study aimed to investigate the relationship between the expression of genes related to ethylene and fruit ripening disorder caused by chilling injury. Papaya fruits were firstly stored at 7°C and 12°C for 25 and 30 days, respectively, then treated with exogenous ethylene and followed by ripening at 25°C for 5 days. Chilling injury symptoms such as pulp water soaking were observed in fruit stored at 7°C on 20 days, whereas the coloration and softening were completely blocked after 25 days, Large differences in the changes in the expression levels of twenty two genes involved in ethylene were seen during 7°C-storage with chilling injury. Those genes with altered expression could be divided into three groups: the group of genes that were up-regulated, including ACS1/2/3, EIN2, EIN3s/EIL1, CTR1/2/3, and ERF1/3/4; the group of genes that were down-regulated, including ACO3, ETR1, CTR4, EBF2, and ERF2; and the group of genes that were un-regulated, including ACO1/2, ERS, and EBF1. The results also showed that pulp firmness had a significantly positive correlation with the expression of ACS2, ACO1, CTR1/4, EIN3a/b, and EBF1/2 in fruit without chilling injury. This positive correlation was changed to negative one in fruit after storage at 7°C for 25 days with chilling injury. The coloring index displayed significantly negative correlations with the expression levels of ACS2, ACO1/2, CTR4, EIN3a/b, ERF3 in fruit without chilling injury, but these correlations were changed into the positive ones in fruit after storage at 7°C for 25 days with chilling injury. All together, these results indicate that these genes may play important roles in the abnormal softening and coloration with chilling injury in papaya.

  6. Effects of stevia on synaptic plasticity and NADPH oxidase level of CNS in conditions of metabolic disorders caused by fructose.

    Science.gov (United States)

    Chavushyan, V A; Simonyan, K V; Simonyan, R M; Isoyan, A S; Simonyan, G M; Babakhanyan, M A; Hovhannisyian, L E; Nahapetyan, Kh H; Avetisyan, L G; Simonyan, M A

    2017-12-19

    Excess dietary fructose intake associated with metabolic syndrome and insulin resistance and increased risk of developing type 2 diabetes. Previous animal studies have reported that diabetic animals have significantly impaired behavioural and cognitive functions, pathological synaptic function and impaired expression of glutamate receptors. Correction of the antioxidant status of laboratory rodents largely prevents the development of fructose-induced plurimetabolic changes in the nervous system. We suggest a novel concept of efficiency of Stevia leaves for treatment of central diabetic neuropathy. By in vivo extracellular studies induced spike activity of hippocampal neurons during high frequency stimulation of entorhinal cortex, as well as neurons of basolateral amygdala to high-frequency stimulation of the hippocampus effects of Stevia rebaudiana Bertoni plant evaluated in synaptic activity in the brain of fructose-enriched diet rats. In the conditions of metabolic disorders caused by fructose, antioxidant activity of Stevia rebaudiana was assessed by measuring the NOX activity of the hippocampus, amygdala and spinal cord. In this study, the characteristic features of the metabolic effects of dietary fructose on synaptic plasticity in hippocampal neurons and basolateral amygdala and the state of the NADPH oxidase (NOX) oxidative system of these brain formations are revealed, as well as the prospects for development of multitarget and polyfunctional phytopreparations (with adaptogenic, antioxidant, antidiabetic, nootropic activity) from native raw material of Stevia rebaudiana. Stevia modulates degree of expressiveness of potentiation/depression (approaches but fails to achieve the norm) by shifting the percentage balance in favor of depressor type of responses during high-frequency stimulation, indicating its adaptogenic role in plasticity of neural networks. Under the action of fructose an increase (3-5 times) in specific quantity of total fraction of NOX

  7. Environmental risk factors for autism: do they help cause de novo genetic mutations that contribute to the disorder?

    Science.gov (United States)

    Kinney, Dennis K; Barch, Daniel H; Chayka, Bogdan; Napoleon, Siena; Munir, Kerim M

    2010-01-01

    Recent research has discovered that a number of genetic risk factors for autism are de novo mutations. Advanced parental age at the time of conception is associated with increased risk for both autism and de novo mutations. We investigated the hypothesis that other environmental factors associated with increased risk for autism might also be mutagenic and contribute to autism by causing de novo mutations. A survey of the research literature identified 9 environmental factors for which increased pre-conceptual exposure appears to be associated with increased risk for autism. Five of these factors--mercury, cadmium, nickel, trichloroethylene, and vinyl chloride--are established mutagens. Another four--including residence in regions that are urbanized, located at higher latitudes, or experience high levels of precipitation--are associated with decreased sun exposure and increased risk for vitamin D deficiency. Vitamin D plays important roles in repairing DNA damage and protecting against oxidative stress--a key cause of DNA damage. Factors associated with vitamin D deficiency will thus contribute to higher mutation rates and impaired repair of DNA. We note how de novo mutations may also help explain why the concordance rate for autism is so markedly higher in monozygotic than dizygotic twins. De novo mutations may also explain in part why the prevalence of autism is so remarkably high, given the evidence for a strong role of genetic factors and the low fertility of individuals with autism--and resultant selection pressure against autism susceptibility genes. These several lines of evidence provide support for the hypothesis, and warrant new research approaches--which we suggest--to address limitations in existing studies. The hypothesis has implications for understanding possible etiologic roles of de novo mutations in autism, and it suggests possible approaches to primary prevention of the disorder, such as addressing widespread vitamin D deficiency and exposure to

  8. Musculoskeletal disorders as underlying cause of death in 58 countries, 1986-2011: trend analysis of WHO mortality database.

    Science.gov (United States)

    Kiadaliri, Aliasghar A; Woolf, Anthony D; Englund, Martin

    2017-02-02

    Due to low mortality rate of musculoskeletal disorders (MSK) less attention has been paid to MSK as underlying cause of death in the general population. The aim was to examine trend in MSK as underlying cause of death in 58 countries across globe during 1986-2011. Data on mortality were collected from the WHO mortality database and population data were obtained from the United Nations. Annual sex-specific age-standardized mortality rates (ASMR) were calculated by means of direct standardization using the WHO world standard population. We applied joinpoint regression analysis for trend analysis. Between-country disparities were examined using between-country variance and Gini coefficient. The changes in number of MSK deaths between 1986 and 2011 were decomposed using two counterfactual scenarios. The number of MSK deaths increased by 67% between 1986 and 2011 mainly due to population aging. The mean ASMR changed from 17.2 and 26.6 per million in 1986 to 18.1 and 25.1 in 2011 among men and women, respectively (median: 7.3% increase in men and 9.0% reduction in women). Declines in ASMR of 25% or more were observed for men (women) in 13 (19) countries, while corresponding increases were seen for men (women) in 25 (14) countries. In both sexes, ASMR declined during 1986-1997, then increased during 1997-2001 and again declined over 2001-2011. Despite decline over time, there were substantial between-country disparities in MSK mortality and its temporal trend. We found substantial variations in MSK mortality and its trends between countries, regions and also between sex and age groups. Promoted awareness and better management of MSK might partly explain reduction in MSK mortality, but variations across countries warrant further investigations.

  9. Common increase of GATA-3 level in PC-12 cells by three teratogens causing autism spectrum disorders.

    Science.gov (United States)

    Rout, Ujjwal K; Clausen, Pete

    2009-06-01

    Autism spectrum disorder (ASD) is a disease of neuro-developmental origin of uncertain etiology. The current understanding is that both genetic and environmental factors contribute to the development of ASD. Exposure to valproate, thalidomide and alcohol during gestation are amongst the environmental triggers that are associated with the development of ASD. These teratogens may disturb the ontogeny of the brain by altering the expression pattern of genes that regulate the normal development of the brain. In this study, a neuron-like PC-12 cell model was used to examine the effects of these compounds on the binding potential of 50 different transcription factors to understand the molecular mechanism/s that may be involved in the teratogenesis caused by these agents. Cells in culture were treated with low or high concentrations of teratogens within a range that are reported in the blood of individuals. A pronounced increase in GATA transcription factor binding was observed for all three teratogens. Furthermore, Western blot analysis showed that GATA-3 level in the nuclear fractions was enhanced by each of the three teratogens. Results suggest that altered gene expression pattern due to heightened GATA-3 activities in the fetral brains following exposure to these teratogens may contribute to the development of ASD.

  10. 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.

  11. Chronic somatic comorbidity and excess mortality due to natural causes in persons with schizophrenia or bipolar affective disorder.

    Directory of Open Access Journals (Sweden)

    Thomas Munk Laursen

    Full Text Available BACKGROUND: Suicide and death by accidents in persons with schizophrenia and bipolar disorder are common, but excess mortality from natural death accounts for even more years of life lost. The impact of somatic comorbidity, however, often is not duly considered in analyses and explanations of excess mortality in patients with psychotic disorders. OBJECTIVE/METHODS: This study investigates and evaluates the impact of 19 severe chronic diseases on excess mortality due to diseases and medical conditions (natural death in individuals with psychotic disorders compared with the general population using a population-based cohort study in Denmark. Incidence/mortality rate ratios of admission/mortality were calculated using survival analysis. RESULTS: Cohort members with psychotic disorders had higher incidence rates of hospital contacts for almost all of the 19 disorders than the general population. The mortality rate ratio (MRR of natural death was 7.10 (95% CI 6.45, 7.81 for schizophrenic men, decreasing to 4.64 (95% CI 4.21, 5.10 after adjustment for the somatic disorders. The same pattern existed in women and in both genders with bipolar disorder. Highest MRRs were observed for psychotic patients without hospital admissions with the investigated somatic disorders. CONCLUSION: Chronic somatic diseases accounted for half of the excess mortality in patients with schizophrenia or bipolar disorder. Chronic disorders investigated in this paper seem to be under-treated or under-detected among such patients.

  12. Early Mortality and Primary Causes of Death in Mothers of Children with Intellectual Disability or Autism Spectrum Disorder: A Retrospective Cohort Study

    OpenAIRE

    Jenny Fairthorne; Geoff Hammond; Jenny Bourke; Peter Jacoby; Helen Leonard

    2014-01-01

    INTRODUCTION: Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers. Yet no research has explored whether this poorer health is reflected in mortality rates or whether certain causes of death are more likely. We aimed to calculate the hazard ratios for death and for the primary causes of death in mothers of children with intellectual disability or ASD compared to other mothers. METHODS: The study population comprised all mothe...

  13. Risk markers of all-cause and diagnosis-specific disability pension--a prospective cohort study of individuals sickness absent due to stress-related mental disorders

    DEFF Research Database (Denmark)

    Ishtiak-Ahmed, Kazi; Perski, Aleksander; Mittendorfer-Rutz, Ellenor

    2014-01-01

    BACKGROUND: Stress-related mental disorders rank among the leading causes of sickness absence in several European countries. The aim of this study was to investigate predictors of all-cause and diagnosis-specific disability pension in sickness absentees with stress-related mental disorders. METHODS......: A cohort of 36304 non-retired individuals aged 16-64 years at 31.12.2004 with at-least one sickness absence spell due to stress-related mental disorders (SRMD) initiated in 2005 in Sweden was followed-up with regard to disability pension (2006-2010) by linkage of registers. Uni- and multivariate Hazard...... ratios (HR) with 95% Confidence Intervals, CI, were estimated using Cox regression for several risk markers. RESULTS: During the follow-up period, 2735 individuals (7.5%) were granted a disability pension, predominantly due to mental diagnoses (n = 2004, 73.3%). In the multivariate analyses, female sex...

  14. The Sleep Disorder Canine Narcolepsy Is Caused by a Mutation in the Hypocretin ( Orexin) Receptor 2 Gene

    National Research Council Canada - National Science Library

    Lin, Ling; Lin, Xiaoyan; Faraco, Juliette; Li, Robin; Kadotani, Hiroshi; Rogers, William; Qiu, Xiaohong; de Jong, Pieter J; Nishino, Seiji; Mignot, Emmanuel

    1999-01-01

    Narcolepsy is a disabling sleep disorder affecting humans and animals. It is characterized by daytime sleepiness, cataplexy, and striking transitions from wakefulness into rapid eye movement (REM) sleep...

  15. Discovering the genetic cause of Mendelian disorders in the age of genomics : the evolving capability of next-generation DNA sequencing

    NARCIS (Netherlands)

    Monroe, G.R.|info:eu-repo/dai/nl/413967476

    2017-01-01

    The research presented in this thesis identifies the genetic cause of a diverse range of Mendelian disorders using next generation sequencing. This work reflects the extremely rapid development of NGS, beginning with target gene panel sequencing in a research setting (Chapters 2 and 3) and only 4

  16. Using the WHOQOL-DIS to measure quality of life in persons with physical disabilities caused by neurodegenerative disorders.

    Science.gov (United States)

    Lucas-Carrasco, Ramona; Pascual-Sedano, Berta; Galán, Ingrid; Kulisevsky, Jaime; Sastre-Garriga, Jaume; Gómez-Benito, Juana

    2011-01-01

    Neurodegenerative disorders (ND) have a major impact on quality of life (QoL) and place a substantial burden on patients, their families and carers; they are the second leading cause of disability. The objective of this study was to examine QoL in persons with ND. A battery of subjective assessments was used, including the World Health Organization Quality of Life Questionnaire (WHOQOL-BREF) and the World Health Organization Quality of Life - Disability (WHOQOL-DIS). Psychometric properties of the WHOQOL-BREF and WHOQOL-DIS were investigated using classical psychometric methods. Participants (n = 149) were recruited and interviewed at two specialized centers to obtain information on health and disability perceptions, depressive symptoms (Hospital Anxiety and Depression Scale - Depression, HADS-D), Fatigue Assessment Scale (FAS), Satisfaction with Life (SWL), generic QoL (WHOQOL-BREF, WHOQOL-DIS), specific QoL (Multiple Sclerosis Impact Scale, MSIS-29; Parkinson's Disease Questionnaire, PDQ-39) and sociodemographics. Internal consistency was acceptable, except for the WHOQOL-BREF social (0.67). Associations, using Pearson's and Spearman's rho correlations, were confirmed between WHOQOL-BREF and WHOQOL-DIS with MSIS-29, PDQ-39, HADS-D, FAS and SWL. Regarding 'known group' differences, Student's t tests showed that WHOQOL-BREF and WHOQOL-DIS scores significantly discriminated between depressed and nondepressed and those perceiving a more severe impact of the disability on their lives. This study is the first to report on use of the WHOQOL-BREF and WHOQOL-DIS in Spanish persons with ND; they are promising useful tools in assessing persons with ND through the continuum of care, as they include important dimensions commonly omitted from other QoL measures. Copyright © 2010 S. Karger AG, Basel.

  17. Transcriptome analysis reveals the molecular mechanism of hepatic fat metabolism disorder caused by Muscovy duck reovirus infection.

    Science.gov (United States)

    Wang, Quanxi; Liu, Mengxi; Xu, Lihui; Wu, Yijian; Huang, Yifan

    2017-10-10

    The aim of this work was to clarify the molecular mechanism underlying the fatty degeneration of livers infected with Muscovy duck reovirus (MDRV), which produces obvious white necrotic foci in the liver. Transcriptome data for MDRV-infected Muscovy duck livers and control livers were sequenced, assembled, and annotated with Illumina(®) HiSeq 2000. The differentially expressed genes were screened and their functions were analysed. We also determined and confirmed the molecular mechanism of the hepatic fat metabolism disorder caused by MDRV infection. The expression of 4190 genes was higher in the infected livers than in the control livers, and the expression of 1113 genes was reduced. A Gene Ontology analysis showed that these genes were involved in 48 biological functions, and were significantly enriched in 237 Kyoto Encyclopedia of Genes and Genomes (KEGG) pathways. The free fatty acid content was significantly higher in the livers of infected Muscovy ducks than in the control livers (P enoyl-CoA delta isomerase 2; EHHADH: enoyl-CoA hydratase/3-hydroxyacyl-CoA dehydrogenase; FDR: false discovery rate; GCDH: Pseudopodoces humilis glutaryl-CoA dehydrogenase; GO: Gene Ontology; HADHA: hydroxyacyl-CoA dehydrogenase/3-ketoacyl-CoA thiolase/enoyl-CoA hydratase (trifunctional protein), alpha subunit; I-FABP: intestinal fatty acid binding protein; KEGG: Kyoto Encyclopedia of Genes and Genomes; L-FABP: liver fatty acid binding protein; MDRV: Muscovy duck reovirus; MOI: multiplicity of infection; NPC1L1: Niemann-Pick C1-like 1; qPCR: real-time quantitative polymerase chain reaction; RNA: ribonucleic acid; RNase: ribonuclease; RNA-seq: RNA sequencing technology; RPKM: reads per kilobase per million mapped reads; SR-B1: scavenger receptor class b type 1.

  18. [Effect of post-traumatic disorders of the victims and causes of traffic accidents in the early stages of treatment].

    Science.gov (United States)

    Scigała, Dawid Konrad; Ziołek, Jakub; Kwiatkowski, Krzysztof

    2013-12-01

    Poland is a country in which every year there is a lot of motor vehicle accidents, number of victims is one of the highest in European union. Helping patients after motor vehicle accidents should base on cooperation of doctors and psychologists because holistic approach to patient enables rapid and effective rehabilitation. To show connection between physical damage cause in motor vehicle accident with mental trauma, which increase on process of full recovery. There were 31 victims who were involved in motor vehicle accidents not more than one month ago. In the second group there were people who was never involved in motor vehicle accident. The procedure consisted on filling demographic questionnaire, state traite anxety inventory and aqute stress disorder questionnare. In the second part of the research was to accomplish the emotional Stroop task, which based on selecting the name of the color of a word, which was on the screen. There were two types of the words: negative related to motor vehicle accident and neutral. Participants from the research group had higher level of anxiety than participants from control group and they had significantly longer reaction time in particular on words associated to accident, which could be the signal of problems with cognitive processes because of the anxiety. Furthermore participants with head injuries and upper limbs (whitout dominant limb) have had longer reaction times in Stroop test than participants with leg injuries, it indicating on higher level of anxiety and feeling of insecurity. It should be noted that looking on a character an range of a injuries, role that participant attend in accident (victims have more emotional disturbance), because it could determinate rate of recovery and the way communication with the patient.

  19. Faecal retention: a common cause in functional bowel disorders, appendicitis and haemorrhoids--with medical and surgical therapy.

    Science.gov (United States)

    Raahave, Dennis

    2015-03-01

    frequent easy defecations, repetitiveness, and incompleteness with solid or liquid faeces. The majority of patients with a heavy faecal load but normal CTT had repetitive daily defecation, mostly with ease and with altering faecal consistence. Flue-like episodes co-existed in symptom factors with abdominal pain and meteorism, and these symptoms together with a palpable right iliac fossa mass and tenderness, and in other factors with seldom and difficult defecation, and with epigastric discomfort and halitosis. Patients with seldom and difficult defecation of solid faeces experienced abdominal pain significantly more often and presented a palpable mass in the right iliac fossa with tenderness and meteorism. The CTT was significantly prolonged and faecal load significantly increased. In patients with a normal CTT and increased faecal load, only patients with abdominal pain had a significant correlation between faecal loading and bloating. CTT and faecal load were shown for the first time to increase significantly with the number of colonic redundancies (colon length), which also resulted in significantly increased bloating and pain. Intervention with a bowel stimulation regimen combining a fibre-rich diet, fluid, physical activity, and a prokinetic drug was essential to proving that abdominal symptoms and defecation disorders are caused by faecal retention, with or without a prolonged CTT. The CTT was significantly reduced, as was faecal load. Bloating and pain were reduced significantly. The defecation became easy with solid faeces, towards one per day and with significant reductions in incompleteness and repetitiveness. Proctalgia and flue-like episodes were significantly reduced. The intervention significantly reduced the presence of a tender palpable mass in the right fossa and rectal constipation. In patients with a normal CTT but increased faecal load, the intervention did not significantly change the CTT or load, but bloating and pain were significantly reduced, just

  20. All-cause mortality among people with serious mental illness (SMI, substance use disorders, and depressive disorders in southeast London: a cohort study

    Directory of Open Access Journals (Sweden)

    Lee William

    2010-09-01

    Full Text Available Abstract Background Higher mortality has been found for people with serious mental illness (SMI, including schizophrenia, schizoaffective disorders, and bipolar affective disorder at all age groups. Our aim was to characterize vulnerable groups for excess mortality among people with SMI, substance use disorders, depressive episode, and recurrent depressive disorder. Methods A case register was developed at the South London and Maudsley National Health Services Foundation Trust (NHS SLAM, accessing full electronic clinical records on over 150,000 mental health service users as a well-defined cohort since 2006. The Case Register Interactive Search (CRIS system enabled searching and retrieval of anonymised information since 2008. Deaths were identified by regular national tracing returns after 2006. Standardized mortality ratios (SMRs were calculated for the period 2007 to 2009 using SLAM records for this period and the expected number of deaths from age-specific mortality statistics for the England and Wales population in 2008. Data were stratified by gender, ethnicity, and specific mental disorders. Results A total of 31,719 cases, aged 15 years old or more, active between 2007-2009 and with mental disorders of interest prior to 2009 were detected in the SLAM case register. SMRs were 2.15 (95% CI: 1.95-2.36 for all SMI with genders combined, 1.89 (1.64-2.17 for women and 2.47 (2.17-2.80 for men. In addition, highest mortality risk was found for substance use disorders (SMR = 4.17; 95% CI: 3.75-4.64. Age- and gender-standardised mortality ratios by ethnic group revealed huge fluctuations, and SMRs for all disorders diminished in strength with age. The main limitation was the setting of secondary mental health care provider in SLAM. Conclusions Substantially higher mortality persists in people with serious mental illness, substance use disorders and depressive disorders. Furthermore, mortality risk differs substantially with age, diagnosis, gender

  1. Molecular evolution of the human SRPX2 gene that causes brain disorders of the Rolandic and Sylvian speech areas

    Directory of Open Access Journals (Sweden)

    Levasseur Anthony

    2007-10-01

    Full Text Available Abstract Background The X-linked SRPX2 gene encodes a Sushi Repeat-containing Protein of unknown function and is mutated in two disorders of the Rolandic/Sylvian speech areas. Since it is linked to defects in the functioning and the development of brain areas for speech production, SRPX2 may thus have participated in the adaptive organization of such brain regions. To address this issue, we have examined the recent molecular evolution of the SRPX2 gene. Results The complete coding region was sequenced in 24 human X chromosomes from worldwide populations and in six representative nonhuman primate species. One single, fixed amino acid change (R75K has been specifically incorporated in human SRPX2 since the human-chimpanzee split. The R75K substitution occurred in the first sushi domain of SRPX2, only three amino acid residues away from a previously reported disease-causing mutation (Y72S. Three-dimensional structural modeling of the first sushi domain revealed that Y72 and K75 are both situated in the hypervariable loop that is usually implicated in protein-protein interactions. The side-chain of residue 75 is exposed, and is located within an unusual and SRPX-specific protruding extension to the hypervariable loop. The analysis of non-synonymous/synonymous substitution rate (Ka/Ks ratio in primates was performed in order to test for positive selection during recent evolution. Using the branch models, the Ka/Ks ratio for the human branch was significantly different (p = 0.027 from that of the other branches. In contrast, the branch-site tests did not reach significance. Genetic analysis was also performed by sequencing 9,908 kilobases (kb of intronic SRPX2 sequences. Despite low nucleotide diversity, neither the HKA (Hudson-Kreitman-Aguadé test nor the Tajima's D test reached significance. Conclusion The R75K human-specific variation occurred in an important functional loop of the first sushi domain of SRPX2, indicating that this evolutionary

  2. Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family.

    Science.gov (United States)

    Noreau, Anne; La Piana, Roberta; Marcoux, Camille; Dion, Patrick A; Brais, Bernard; Bernard, Geneviève; Rouleau, Guy A

    2015-10-01

    Two French-Canadian sibs with cerebellar ataxia and dysarthria were seen in our neurogenetics clinic. The older brother had global developmental delay and spastic paraplegia. Brain MRIs from these two affected individuals showed moderate to severe cerebellar atrophy. To identify the genetic basis for their disease, we conducted a whole exome sequencing (WES) investigation using genomic DNA prepared from the affected sibs and their healthy father. We identified two mutations in the SIL1 gene, which is reported to cause Marinesco-Sjögren syndrome. This study emphasizes how the diagnosis of patients with ataxic gait and cerebellar atrophy may benefit from WES to identify the genetic cause of their condition.

  3. THE CHARACHTERISTIC OF STRESS-FACTORS THAT CAUSE THE EMERGING OF THE POST TRAUMATIC STRESS DISORDERS IN SERVICEMEN THE COMBATANTS

    OpenAIRE

    Bryndikov, Yuriy

    2017-01-01

    It is analyzed in the article the general approaches to the problem of post-traumatic stress disorders in servicemen the combatants. There are stress and post-traumatic stress disorders among the destructive psychological states of servicemen who have been in the ATO zone. While researching it is analyzed the scientists’ approaches to the essence of the concept of “stress” that is a general protective reaction of the organism to the negative environmental influences. It is characterized th...

  4. Differential criteria for binge eating disorder and food addiction in the context of causes and treatment of obesity.

    Science.gov (United States)

    Bąk-Sosnowska, Monika

    2017-04-30

    To establish the differential criteria for Binge Eating Disorder (BED) and Food Addiction (FA). We performed a detailed analysis of comparative diagnostic criteria for BED and Substance use disorder contained in the Diagnostic and Statistical Manual of Mental Disorders DSM-V. We applied the diagnostic criteria for both disorders to scientific publications on the issue of excessive eating in obese people, during the years 2005-2016, available on PubMed. We isolated specific similarities and differences between Binge Eating Disorder and Food Addiction. We formulated differential criteria for BED and FA. In BED as well as FA the following characteristics are apparent: preoccupation with food, excessive eating, loss of control over the amount of food and manner of eating, inability to change behavior, continuing behavior despite negative consequences, increased impulsiveness and emotional imbalance. Differences between BED and FA relate to the function of food, reaction to omitted food, psychological mechanisms of coping with excessive eating and body image, the issue of tolerance, withdrawal syndrome and the correlation between excessive eating and other areas of life. The criteria of differentiation between BED and FA concern the following: function of food, eating circumstances, reaction to the unavailability of food, awareness of the problem. Appropriate diagnosis of these disorders and their differentiation increases the chances of adequate treatment of obese patients.

  5. Genetic Disorders

    Science.gov (United States)

    ... This can cause a medical condition called a genetic disorder. You can inherit a gene mutation from ... during your lifetime. There are three types of genetic disorders: Single-gene disorders, where a mutation affects ...

  6. Development of acute pancreatitis caused by sodium valproate in a patient with bipolar disorder on hemodialysis for chronic renal failure: a case report.

    Science.gov (United States)

    Okayasu, Hiroaki; Shinozaki, Takahiro; Osone, Akira; Ozeki, Yuji; Shimoda, Kazutaka

    2014-03-29

    Cases of acute pancreatitis caused by sodium valproate (VPA) have been reported by many authors thus far. However, most of these were cases with epilepsy. Chronic renal failure is also regarded as a risk factor for acute pancreatitis. Here, we report a case of acute pancreatitis development due to VPA in a patient with bipolar disorder on hemodialysis for chronic renal failure. The patient was a 52-year-old Japanese male who was diagnosed as bipolar disorder on hemodialysis for renal failure. He was treated with VPA and manic symptoms gradually stabilized. However, the patient complained of severe abdominal pain. Blood amylase was found to be markedly high, and computed tomography revealed pancreatomegaly and an increased amount of peripancreatic fat. Hence, we diagnosed the case as acute pancreatitis caused by VPA. We discontinued oral medication, and he was started on a pancreatic enzyme inhibitor, antibiotics, and transfusion, and he showed improvement. It has been reported that acute pancreatitis induced by VPA is caused by intermediate metabolites of VPA. We consider that patients with renal failure are prone to pancreatitis caused by VPA because of the accumulation of these intermediate metabolites. We need close monitoring for serious adverse effects such as pancreatitis when we prescribe VPA to patients with bipolar disorder on hemodialysis for chronic renal failure, although VPA is safer than other mood stabilizers.

  7. Prevalence of epilepsy and seizure disorders as causes of apparent life- threatening event (ALTE) in children admitted to a tertiary hospital

    OpenAIRE

    Anjos, Alessandra Marques dos; Nunes, Magda Lahorgue

    2009-01-01

    OBJECTIVE: To determine the prevalence and describe clinical characteristics of seizure disorders and epilepsy as causes of apparent life- threatening event (ALTE) in children admitted at the emergency and followed in a tertiary hospital. METHOD: Cross-sectional study with prospective data collection using specific guidelines to determine the etiology of ALTE. RESULTS: During the study, 30 (4.2%) children admitted to the hospital had a diagnosis of ALTE. There was a predominance of males (73%...

  8. Treating the Cause of Illness Rather than the Symptoms: Parental Causal Beliefs and Treatment Choices in Autism Spectrum Disorder

    Science.gov (United States)

    Dardennes, Roland M.; Al Anbar, Nebal N.; Prado-Netto, Arthur; Kaye, Kelley; Contejean, Yves; Al Anbar, Nesreen N.

    2011-01-01

    Objectives: To explore the relationship between causal beliefs on autism (CBA) and treatment choices. Design and methods: A cross-sectional design was employed. Parents of a child with autism spectrum disorder (ASD) were asked to complete the Lay-Beliefs about Autism Questionnaire (LBA-Q) and answer questions about treatments used. Only items…

  9. Optimal screw orientation for the fixation of cervical degenerative disc disease using nonlinear C3-T2 multi-level spinal models and neuro-genetic algorithms.

    Science.gov (United States)

    Chang, Ting-Kuo; Hsu, Ching-Chi; Chen, Kuan-Ting

    2015-01-01

    Anterior cervical discectomy and fusion is a common surgical procedure performed to remove a degenerative or herniated disc in cervical spine. Unfortunately, clinical complications of anterior cervical plate (ACP) systems still occur, such as weak fixation stability and implant loosening. Previous researchers have attempted to ameliorate these complications by varying screw orientations, but the screw orientations are mainly determined according to the investigator's experiences. Thus, the aim of this study was to discover the optimal screw orientations of ACP systems to achieve acceptable fixation stability using finite element simulations and engineering algorithms. Three-dimensional finite element models of C3-T2 multi-level segments with an ACP system were first developed to analyze the fixation stability using ANSYS Workbench 14.5. Then, artificial neural networks were applied to create one objective function, and the optimal screw orientations of an ACP system were discovered by genetic algorithms. Finally, the numerical models and the optimization study were validated using biomechanical tests. The results showed that the optimal design of the ACP system had highest fixation stability compared with other ACP designs. The neuro-genetic algorithm has effectively reduced the time and effort required for discovering for the optimal screw orientations of an ACP system. The optimum screw orientation of the ACP system could be successfully discovered, and it revealed excellent fixation stability for the treatment of cervical degenerative disc disease. This study could directly provide the biomechanical rationale and surgical suggestion to orthopedic surgeons.

  10. Circulating Brain Microvascular Endothelial Cells (cBMECs) as Potential Biomarkers of the Blood–Brain Barrier Disorders Caused by Microbial and Non-Microbial Factors

    Science.gov (United States)

    Wu, Chun-Hua; Cao, Hong; Zhang, Aimin; Jong, Ambrose

    2013-01-01

    Despite aggressive research, central nervous system (CNS) disorders, including blood-brain barrier (BBB) injury caused by microbial infection, stroke, abused drugs [e.g., methamphetamine (METH) and nicotine], and other pathogenic insults, remain the world's leading cause of disabilities. In our previous work, we found that dysfunction of brain microvascular endothelial cells (BMECs), which are a major component of the BBB, could be caused by nicotine, meningitic pathogens and microbial factors, including HIV-1 virulence factors gp41 and gp120. One of the most challenging issues in this area is that there are no available cell-based biomarkers in peripheral blood for BBB disorders caused by microbial and non-microbial insults. To identify such cellular biomarkers for BBB injuries, our studies have shown that mice treated with nicotine, METH and gp120 resulted in increased blood levels of CD146+(endothelial marker)/S100B+ (brain marker) circulating BMECs (cBMECs) and CD133+[progenitor cell (PC) marker]/CD146+ endothelial PCs (EPCs), along with enhanced Evans blue and albumin extravasation into the brain. Nicotine and gp120 were able to significantly increase the serum levels of ubiquitin C-terminal hydrolase 1 (UCHL1) (a new BBB marker) as well as S100B in mice, which are correlated with the changes in cBMECs and EPCs. Nicotine- and meningitic E. coli K1-induced enhancement of cBMEC levels, leukocyte migration across the BBB and albumin extravasation into the brain were significantly reduced in alpha7 nAChR knockout mice, suggesting that this inflammatory regulator plays an important role in CNS inflammation and BBB disorders caused by microbial and non-microbial factors. These results demonstrated that cBMECs as well as EPCs may be used as potential cell-based biomarkers for indexing of BBB injury. PMID:23637989

  11. Circulating brain microvascular endothelial cells (cBMECs) as potential biomarkers of the blood-brain barrier disorders caused by microbial and non-microbial factors.

    Science.gov (United States)

    Huang, Sheng-He; Wang, Lin; Chi, Feng; Wu, Chun-Hua; Cao, Hong; Zhang, Aimin; Jong, Ambrose

    2013-01-01

    Despite aggressive research, central nervous system (CNS) disorders, including blood-brain barrier (BBB) injury caused by microbial infection, stroke, abused drugs [e.g., methamphetamine (METH) and nicotine], and other pathogenic insults, remain the world's leading cause of disabilities. In our previous work, we found that dysfunction of brain microvascular endothelial cells (BMECs), which are a major component of the BBB, could be caused by nicotine, meningitic pathogens and microbial factors, including HIV-1 virulence factors gp41 and gp120. One of the most challenging issues in this area is that there are no available cell-based biomarkers in peripheral blood for BBB disorders caused by microbial and non-microbial insults. To identify such cellular biomarkers for BBB injuries, our studies have shown that mice treated with nicotine, METH and gp120 resulted in increased blood levels of CD146+(endothelial marker)/S100B+ (brain marker) circulating BMECs (cBMECs) and CD133+[progenitor cell (PC) marker]/CD146+ endothelial PCs (EPCs), along with enhanced Evans blue and albumin extravasation into the brain. Nicotine and gp120 were able to significantly increase the serum levels of ubiquitin C-terminal hydrolase 1 (UCHL1) (a new BBB marker) as well as S100B in mice, which are correlated with the changes in cBMECs and EPCs. Nicotine- and meningitic E. coli K1-induced enhancement of cBMEC levels, leukocyte migration across the BBB and albumin extravasation into the brain were significantly reduced in alpha7 nAChR knockout mice, suggesting that this inflammatory regulator plays an important role in CNS inflammation and BBB disorders caused by microbial and non-microbial factors. These results demonstrated that cBMECs as well as EPCs may be used as potential cell-based biomarkers for indexing of BBB injury.

  12. Circulating brain microvascular endothelial cells (cBMECs as potential biomarkers of the blood-brain barrier disorders caused by microbial and non-microbial factors.

    Directory of Open Access Journals (Sweden)

    Sheng-He Huang

    Full Text Available Despite aggressive research, central nervous system (CNS disorders, including blood-brain barrier (BBB injury caused by microbial infection, stroke, abused drugs [e.g., methamphetamine (METH and nicotine], and other pathogenic insults, remain the world's leading cause of disabilities. In our previous work, we found that dysfunction of brain microvascular endothelial cells (BMECs, which are a major component of the BBB, could be caused by nicotine, meningitic pathogens and microbial factors, including HIV-1 virulence factors gp41 and gp120. One of the most challenging issues in this area is that there are no available cell-based biomarkers in peripheral blood for BBB disorders caused by microbial and non-microbial insults. To identify such cellular biomarkers for BBB injuries, our studies have shown that mice treated with nicotine, METH and gp120 resulted in increased blood levels of CD146+(endothelial marker/S100B+ (brain marker circulating BMECs (cBMECs and CD133+[progenitor cell (PC marker]/CD146+ endothelial PCs (EPCs, along with enhanced Evans blue and albumin extravasation into the brain. Nicotine and gp120 were able to significantly increase the serum levels of ubiquitin C-terminal hydrolase 1 (UCHL1 (a new BBB marker as well as S100B in mice, which are correlated with the changes in cBMECs and EPCs. Nicotine- and meningitic E. coli K1-induced enhancement of cBMEC levels, leukocyte migration across the BBB and albumin extravasation into the brain were significantly reduced in alpha7 nAChR knockout mice, suggesting that this inflammatory regulator plays an important role in CNS inflammation and BBB disorders caused by microbial and non-microbial factors. These results demonstrated that cBMECs as well as EPCs may be used as potential cell-based biomarkers for indexing of BBB injury.

  13. Risk markers of all-cause and diagnosis-specific disability pension--a prospective cohort study of individuals sickness absent due to stress-related mental disorders.

    Science.gov (United States)

    Ishtiak-Ahmed, Kazi; Perski, Aleksander; Mittendorfer-Rutz, Ellenor

    2014-08-07

    Stress-related mental disorders rank among the leading causes of sickness absence in several European countries. The aim of this study was to investigate predictors of all-cause and diagnosis-specific disability pension in sickness absentees with stress-related mental disorders. A cohort of 36304 non-retired individuals aged 16-64 years at 31.12.2004 with at-least one sickness absence spell due to stress-related mental disorders (SRMD) initiated in 2005 in Sweden was followed-up with regard to disability pension (2006-2010) by linkage of registers. Uni- and multivariate Hazard ratios (HR) with 95% Confidence Intervals, CI, were estimated using Cox regression for several risk markers. During the follow-up period, 2735 individuals (7.5%) were granted a disability pension, predominantly due to mental diagnoses (n = 2004, 73.3%). In the multivariate analyses, female sex, age exceeding 35 years, low educational level, being born in a country outside EU25 and Northern Europe, residing outside big cities, living alone, having had a long duration of the first spell due to SRMD (>90 days); mental disorders necessitating frequent specialised health care as well as comorbid somatic disorders were found to be predictive of granting disability pension. Some different patterns emerged for risk factors related to diagnosis-specific disability pension and for younger and older individuals. Several predictors could be identified as risk markers for disability pension. The variation in the effect of risk markers with regard to age and diagnosis of disability pension speaks in favour of the importance of a person-centered approach in treatment and rehabilitation.

  14. Increased Coupling in the Saliency Network is the main cause/effect of Attention Deficit Hyperactivity Disorder

    CERN Document Server

    Ji, Xiaoxi; Zhang, Jie; Ge, Tian; Sun, Li; Wang, Yufeng; Feng, Jianfeng

    2011-01-01

    To uncover the underlying mechanisms of mental disorders such as attention deficit hyperactivity disorder (ADHD) for improving both early diagnosis and therapy, it is increasingly recognized that we need a better understanding of how the brain's functional connections are altered. A new brain wide association study (BWAS) has been developed and used to investigate functional connectivity changes in the brains of patients suffering from ADHD using resting state fMRI data. To reliably find out the most significantly altered functional connectivity links and associate them with ADHD, a meta-analysis on a cohort of ever reported largest population comprising 249 patients and 253 healthy controls is carried out. The greatest change in ADHD patients was the increased coupling of the saliency network involving the anterior cingulate gyrus and anterior insula. A voxel-based morphometry analysis was also carried out but this revealed no evidence in the ADHD patients for altered grey matter volumes in the regions showi...

  15. Oppositional defiant disorder

    Science.gov (United States)

    ... pattern of disobedient, hostile, and defiant behavior toward authority figures. Causes This disorder is more common in ... disorder (ADHD) Bipolar disorder Depression Learning disorders Substance abuse disorders Treatment The best treatment for the child ...

  16. A Novel Missense Mutation in SRD5A3 Causes Congenital Disorder of Glycosylation Type I (Cerebello-Ocular Syndrome

    Directory of Open Access Journals (Sweden)

    Yasser Al-Sarraj BSC

    2014-09-01

    Full Text Available A consanguineous Qatari family having an autosomal recessive disorder characterized by severe mental retardation, cerebellar vermis hypoplasia, retinal degeneration, optic nerve atrophy, ataxic gait, and seizures was studied for identification of the offending gene and mutation. Homozygosity mapping identified an 11.4 Mb critical interval at 4q12 to q13.2 that would contain the gene responsible for the disorder. Ten positional candidate genes were screened for pathogenic mutations, but none were identified. Next-generation exome sequencing in one affected individual identified a novel SRD5A3 missense mutation c.T744G/p.F248L, which was subsequently confirmed by Sanger sequencing, suggesting a congenital disorder of glycosylation type IQ defect. Isoelectric focusing of serum transferrin showed a type I pattern indicative of an N-glycan assembly defect. This is a novel pathogenic mutation and the first SRD5A3 missense mutation as all others are protein-truncating mutations.

  17. Developmental disorders of the brain can be caused by PCBs; low doses of hydroxy-PCBs disrupt thyroid hormone-dependent dendrite formation from Purkinje neurons in culture

    Energy Technology Data Exchange (ETDEWEB)

    Kuroda, Y.; Kimura-Kuroda, J. [Tokyo Metropol. Inst. for Neuroscience, Tokyo (Japan); Nagata, I. [CREST/ JST, Tokyo (Japan)

    2004-09-15

    Exposure to some environmental chemicals during the perinatal period causes developmental disorders of the brain. Cognitive impairment and hyperactivity in infants were reported in Taiwan, known as Yu-cheng incidents caused by the accidental contamination of polychlorinated biphenyls (PCBs). Together with recent experimental data, Kuroda proposes a hypothesis that spatio-temporal disruptions of developing neuronal circuits by PCB exposure can cause the comobidity of learning disorders (LD), attention deficit hyperactivity disorder (ADHD) and autsm with the co-exposure to other environmental chemicals. PCBs and hydroxylated PCBs (OH-PCBs) have similar chemical structures to thyroid hormones (TH), thyroxine (T4) and triiodothyronine (T3). TH deficiency in the perinatal period causes cretinism children with severe cognitive and mental retardation. In primate model, Rice demonstrates that postnatal exposure to PCBs can dramatically influence later behavioral function. Epidemiological studies also indicate the possible developmental neurotoxicity of PCBs accumulated in human bodies. However, the precise underlying mechanisms and which types of PCB or OH-PCB with such effects have yet to be elucidated. It is important to establish a simple, reproducible, and sensitive in vitro assay for determining the effects of PCBs and OH-PCBs on the development of the central nervous system. Recently Iwasaki et al. established a reporter assay system and disclosed that low doses of PCBs potentially interfere TH-dependent gene expressions. This is the first demonstration that PCBs and OH-PCBs directly affect TH-receptor (TR)-mediated gene expressions crucial to the brain development, through unique mechanism. We also have demonstrated TH-dependent development of Purkinje neurons in vitro using a serum-free chemically defined medium. The degree of dendritic development of Purkinje cells is TH dose-dependent and exhibits high sensitivity in the pM order. Therefore, in the present study

  18. Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

    Science.gov (United States)

    Pagnamenta, Alistair T; Murakami, Yoshiko; Taylor, John M; Anzilotti, Consuelo; Howard, Malcolm F; Miller, Venessa; Johnson, Diana S; Tadros, Shereen; Mansour, Sahar; Temple, I Karen; Firth, Rachel; Rosser, Elisabeth; Harrison, Rachel E; Kerr, Bronwen; Popitsch, Niko; Kinoshita, Taroh; Taylor, Jenny C; Kini, Usha

    2017-06-01

    Over 150 different proteins attach to the plasma membrane using glycosylphosphatidylinositol (GPI) anchors. Mutations in 18 genes that encode components of GPI-anchor biogenesis result in a phenotypic spectrum that includes learning disability, epilepsy, microcephaly, congenital malformations and mild dysmorphic features. To determine the incidence of GPI-anchor defects, we analysed the exome data from 4293 parent-child trios recruited to the Deciphering Developmental Disorders (DDD) study. All probands recruited had a neurodevelopmental disorder. We searched for variants in 31 genes linked to GPI-anchor biogenesis and detected rare biallelic variants in PGAP3, PIGN, PIGT (n=2), PIGO and PIGL, providing a likely diagnosis for six families. In five families, the variants were in a compound heterozygous configuration while in a consanguineous Afghani kindred, a homozygous c.709G>C; p.(E237Q) variant in PIGT was identified within 10-12 Mb of autozygosity. Validation and segregation analysis was performed using Sanger sequencing. Across the six families, five siblings were available for testing and in all cases variants co-segregated consistent with them being causative. In four families, abnormal alkaline phosphatase results were observed in the direction expected. FACS analysis of knockout HEK293 cells that had been transfected with wild-type or mutant cDNA constructs demonstrated that the variants in PIGN, PIGT and PIGO all led to reduced activity. Splicing assays, performed using leucocyte RNA, showed that a c.336-2A>G variant in PIGL resulted in exon skipping and p.D113fs*2. Our results strengthen recently reported disease associations, suggest that defective GPI-anchor biogenesis may explain ~0.15% of individuals with developmental disorders and highlight the benefits of data sharing.

  19. Molecular basis of multiple sulfatase deficiency, mucolipidosis II/III and Niemann-Pick C1 disease - Lysosomal storage disorders caused by defects of non-lysosomal proteins.

    Science.gov (United States)

    Dierks, Thomas; Schlotawa, Lars; Frese, Marc-André; Radhakrishnan, Karthikeyan; von Figura, Kurt; Schmidt, Bernhard

    2009-04-01

    Multiple sulfatase deficiency (MSD), mucolipidosis (ML) II/III and Niemann-Pick type C1 (NPC1) disease are rare but fatal lysosomal storage disorders caused by the genetic defect of non-lysosomal proteins. The NPC1 protein mainly localizes to late endosomes and is essential for cholesterol redistribution from endocytosed LDL to cellular membranes. NPC1 deficiency leads to lysosomal accumulation of a broad range of lipids. The precise functional mechanism of this membrane protein, however, remains puzzling. ML II, also termed I cell disease, and the less severe ML III result from deficiencies of the Golgi enzyme N-acetylglucosamine 1-phosphotransferase leading to a global defect of lysosome biogenesis. In patient cells, newly synthesized lysosomal proteins are not equipped with the critical lysosomal trafficking marker mannose 6-phosphate, thus escaping from lysosomal sorting at the trans Golgi network. MSD affects the entire sulfatase family, at least seven members of which are lysosomal enzymes that are specifically involved in the degradation of sulfated glycosaminoglycans, sulfolipids or other sulfated molecules. The combined deficiencies of all sulfatases result from a defective post-translational modification by the ER-localized formylglycine-generating enzyme (FGE), which oxidizes a specific cysteine residue to formylglycine, the catalytic residue enabling a unique mechanism of sulfate ester hydrolysis. This review gives an update on the molecular bases of these enigmatic diseases, which have been challenging researchers since many decades and so far led to a number of surprising findings that give deeper insight into both the cell biology and the pathobiochemistry underlying these complex disorders. In case of MSD, considerable progress has been made in recent years towards an understanding of disease-causing FGE mutations. First approaches to link molecular parameters with clinical manifestation have been described and even therapeutical options have been

  20. A case report of primary ciliary dyskinesia, laterality defects and developmental delay caused by the co-existence of a single gene and chromosome disorder.

    LENUS (Irish Health Repository)

    Casey, Jillian P

    2015-01-01

    Primary ciliary dyskinesia (PCD) is a rare autosomal recessive disorder characterised by abnormal ciliary motion and impaired mucociliary clearance, leading to recurrent respiratory infections, sinusitis, otitis media and male infertility. Some patients also have laterality defects. We recently reported the identification of three disease-causing PCD genes in the Irish Traveller population; RSPH4A, DYX1C1 and CCNO. We have since assessed an additional Irish Traveller family with a complex phenotype involving PCD who did not have any of the previously identified PCD mutations.

  1. How to consistently link extraversion and intelligence to the catechol-O-methyltransferase (COMT) gene: on defining and measuring psychological phenotypes in neurogenetic research.

    Science.gov (United States)

    Wacker, Jan; Mueller, Erik M; Hennig, Jürgen; Stemmler, Gerhard

    2012-02-01

    The evidence for associations between genetic polymorphisms and complex behavioral/psychological phenotypes (traits) has thus far been weak and inconsistent. Using the well-studied Val158Met polymorphism of the catechol-O-methyltransferase (COMT) gene as an example, we demonstrate that using theoretical models to guide phenotype definition and measuring the phenotypes of interest with a high degree of specificity reveals strong gene-behavior associations that are consistent with prior work and that would have otherwise gone unnoticed. Only after statistically controlling for irrelevant portions of phenotype variance did we observe strong (Cohen's d = 0.33-0.70) and significant associations between COMT Val158Met and both cognitive and affective traits in a healthy male sample (N = 201) in Study 1: Carriers of the Met allele scored higher in fluid intelligence (reasoning) but lower in both crystallized intelligence (general knowledge) and the agency facet of extraversion. In Study 2, we conceptually replicated the association of COMT Val158Met with the agency facet of extraversion after partialing irrelevant phenotype variance in a female sample (N = 565). Finally, through reanalysis of a large published data set we showed that Met allele carriers also scored higher in indicators of fluid intelligence after partialing verbal fluency. Because the Met allele codes for a less efficient variant of the enzyme COMT, resulting in higher levels of extrasynaptic prefrontal dopamine, these observations provide further support for a role for dopamine in both intelligence and extraversion. More importantly, the present findings have important implications for the definition of psychological phenotypes in neurogenetic research.

  2. Sensory overresponsivity and anxiety in typically developing children and children with autism and attention deficit hyperactivity disorder: cause or coexistence?

    Science.gov (United States)

    Lane, Shelly J; Reynolds, Stacey; Dumenci, Levent

    2012-01-01

    OBJECTIVE. To explore the relationship between sensory overresponsivity (SOR) and anxiety in children with autism, attention deficit hyperactivity disorder, and typical development. METHOD. Path analysis was used to examine the primary SOR model (Green & Ben-Sasson, 2010) using both physiological and behavioral data. RESULTS. The magnitude of physiological responses to sensory challenge was a mediator variable between predictors (baseline arousal and attention) and outcomes (anxiety and physiological recovery). Behavioral SOR was correlated with anxiety but not with physiological variables. CONCLUSION. The intensity or magnitude of sensory responsivity mediates the relationship between baseline arousal and attention and outcome anxiety and physiologic recovery from sensory challenge. Behavioral tools used to measure SOR do not reflect physiological responsiveness; this mismatch warrants further investigation. SOR can prevent children from participating in the occupations of childhood; the greater the understanding of SOR, the more successful occupational therapy practitioners will be in developing effective interventions. Copyright © 2012 by the American Occupational Therapy Association, Inc.

  3. The importance of intrinsically disordered segments of cardiac troponin in modulating function by phosphorylation and disease-causing mutations

    Directory of Open Access Journals (Sweden)

    Maria Papadaki

    2016-11-01

    Full Text Available Troponin plays a central role in regulation of muscle contraction. It is the Ca2+ switch of striated muscles including the heart and in the cardiac muscle is physiologically modulated by PKA-dependent phosphorylation at Ser22 and 23. Many cardiomyopathy-related mutations affect Ca2+ regulation and/or disrupt the relationship between Ca2+ binding and phosphorylation. Unlike the mechanism of heart activation, the modulation of Ca2+-sensitivity by phosphorylation of the cardiac specific N-terminal segment of TnI (1-30 is structurally subtle and has proven hard to investigate. The crystal structure of cardiac troponin describes only the relatively stable core of the molecule and the crucial mobile parts of the molecule are missing including TnI C terminal region, TnI (1-30, TnI (134-149 (‘inhibitory’ peptide and the C-terminal 28 amino acids of TnT that are intrinsically disordered.Recent studies over the years have been performed to answer this matter by building structural models of cardiac troponin in phosphorylated and dephosphorylated states based on peptide NMR studies. Now these have been updated by more recent concepts derived from molecular dynamic simulations treating troponin as a dynamic structure. The emerging model confirms the stable core structure of troponin and the mobile structure of the intrinsically disordered segments. We will discuss how we can describe these segments in terms of dynamic transitions between a small number of states with the probability distributions being altered by phosphorylation and by HCM or DCM-related mutations that can explain how Ca2+-sensitivity is modulated by phosphorylation and the effects of mutations.

  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-/- × Tfr2mut 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 (P0.05). 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. Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features.

    Science.gov (United States)

    Zhang, Jing; Gambin, Tomasz; Yuan, Bo; Szafranski, Przemyslaw; Rosenfeld, Jill A; Balwi, Mohammed Al; Alswaid, Abdulrahman; Al-Gazali, Lihadh; Shamsi, Aisha M Al; Komara, Makanko; Ali, Bassam R; Roeder, Elizabeth; McAuley, Laura; Roy, Daniel S; Manchester, David K; Magoulas, Pilar; King, Lauren E; Hannig, Vickie; Bonneau, Dominique; Denommé-Pichon, Anne-Sophie; Charif, Majida; Besnard, Thomas; Bézieau, Stéphane; Cogné, Benjamin; Andrieux, Joris; Zhu, Wenmiao; He, Weimin; Vetrini, Francesco; Ward, Patricia A; Cheung, Sau Wai; Bi, Weimin; Eng, Christine M; Lupski, James R; Yang, Yaping; Patel, Ankita; Lalani, Seema R; Xia, Fan; Stankiewicz, Paweł

    2017-04-01

    Impairment of ubiquitin-proteasome system activity involving ubiquitin ligase genes UBE3A, UBE3B, and HUWE1 and deubiquitinating enzyme genes USP7 and USP9X has been reported in patients with neurodevelopmental delays. To date, only a handful of single-nucleotide variants (SNVs) and copy-number variants (CNVs) involving TRIP12, encoding a member of the HECT domain E3 ubiquitin ligases family on chromosome 2q36.3 have been reported. Using chromosomal microarray analysis and whole-exome sequencing (WES), we have identified, respectively, five deletion CNVs and four inactivating SNVs (two frameshifts, one missense, and one splicing) in TRIP12. Seven of these variants were found to be de novo; parental studies could not be completed in two families. Quantitative PCR analyses of the splicing mutation showed a dramatically decreased level of TRIP12 mRNA in the proband compared to the family controls, indicating a loss-of-function mechanism. The shared clinical features include intellectual disability with or without autistic spectrum disorders, speech delay, and facial dysmorphism. Our findings demonstrate that E3 ubiquitin ligase TRIP12 plays an important role in nervous system development and function. The nine presented pathogenic variants further document that TRIP12 haploinsufficiency causes a childhood-onset neurodevelopmental disorder. Finally, our data enable expansion of the phenotypic spectrum of ubiquitin-proteasome dependent disorders.

  6. Psychiatry's next top model: cause for a re-think on drug models of psychosis and other psychiatric disorders.

    Science.gov (United States)

    Carhart-Harris, R L; Brugger, S; Nutt, D J; Stone, J M

    2013-09-01

    Despite the widespread application of drug modelling in psychiatric research, the relative value of different models has never been formally compared in the same analysis. Here we compared the effects of five drugs (cannabis, psilocybin, amphetamine, ketamine and alcohol) in relation to psychiatric symptoms in a two-part subjective analysis. In the first part, mental health professionals associated statements referring to specific experiences, for example 'I don't bother to get out of bed', to one or more psychiatric symptom clusters, for example depression and negative psychotic symptoms. This measured the specificity of an experience for a particular disorder. In the second part, individuals with personal experience with each of the above-listed drugs were asked how reliably each drug produced the experiences listed in part 1, both acutely and sub-acutely. Part 1 failed to find any experiences that were specific for negative or cognitive psychotic symptoms over depression. The best model of positive symptoms was psilocybin and the best models overall were the acute alcohol and amphetamine models of mania. These results challenge current assumptions about drug models and motivate further research on this understudied area.

  7. Parents' and professionals' perceptions on causes and treatment options for Autism Spectrum Disorders (ASD) in a multicultural context on the Kenyan Coast.

    Science.gov (United States)

    Gona, Joseph K; Newton, Charles R; Rimba, Kenneth; Mapenzi, Rachel; Kihara, Michael; Van de Vijver, Fons J R; Abubakar, Amina

    2015-01-01

    To explore parents' and professionals' perceived causes and treatment of Autism Spectrum Disorders (ASD) on the Kenyan Coast. In-depth interviews and focus group discussions using guiding questions were utilized in data collection. One hundred and three participants, who included parents of children with ASD, special needs teachers, clinicians, and social workers from diverse cultural background, participated in this study. The interviews and focus groups were recorded, transcribed verbatim and then translated to English. Themes were generated using content analysis. Preternatural causes were mentioned and included evil spirits, witchcraft, and curses. Biomedical causes comprised infections, drug abuse, birth complications, malnutrition, and genetic related problems. Treatment varied from traditional and spiritual healing to modern treatment in health facilities, and included consultations with traditional healers, offering prayers to God, and visits to hospitals. The results suggest that regardless of cultural backgrounds, people on the Kenyan Coast have similar views on perceived causes and treatment of ASD. These findings provide valuable conceptual understanding for professionals when planning and implementing community based rehabilitation interventions targeting children with ASD within a local context.

  8. Parents' and professionals' perceptions on causes and treatment options for Autism Spectrum Disorders (ASD in a multicultural context on the Kenyan Coast.

    Directory of Open Access Journals (Sweden)

    Joseph K Gona

    Full Text Available To explore parents' and professionals' perceived causes and treatment of Autism Spectrum Disorders (ASD on the Kenyan Coast.In-depth interviews and focus group discussions using guiding questions were utilized in data collection. One hundred and three participants, who included parents of children with ASD, special needs teachers, clinicians, and social workers from diverse cultural background, participated in this study. The interviews and focus groups were recorded, transcribed verbatim and then translated to English. Themes were generated using content analysis.Preternatural causes were mentioned and included evil spirits, witchcraft, and curses. Biomedical causes comprised infections, drug abuse, birth complications, malnutrition, and genetic related problems. Treatment varied from traditional and spiritual healing to modern treatment in health facilities, and included consultations with traditional healers, offering prayers to God, and visits to hospitals.The results suggest that regardless of cultural backgrounds, people on the Kenyan Coast have similar views on perceived causes and treatment of ASD. These findings provide valuable conceptual understanding for professionals when planning and implementing community based rehabilitation interventions targeting children with ASD within a local context.

  9. The R403Q myosin mutation implicated in familial hypertrophic cardiomyopathy causes disorder at the actomyosin interface.

    Directory of Open Access Journals (Sweden)

    Niels Volkmann

    2007-11-01

    Full Text Available Mutations in virtually all of the proteins comprising the cardiac muscle sarcomere have been implicated in causing Familial Hypertrophic Cardiomyopathy (FHC. Mutations in the beta-myosin heavy chain (MHC remain among the most common causes of FHC, with the widely studied R403Q mutation resulting in an especially severe clinical prognosis. In vitro functional studies of cardiac myosin containing the R403Q mutation have revealed significant changes in enzymatic and mechanical properties compared to wild-type myosin. It has been proposed that these molecular changes must trigger events that ultimately lead to the clinical phenotype.Here we examine the structural consequences of the R403Q mutation in a recombinant smooth muscle myosin subfragment (S1, whose kinetic features have much in common with slow beta-MHC. We obtained three-dimensional reconstructions of wild-type and R403Q smooth muscle S1 bound to actin filaments in the presence (ADP and absence (apo of nucleotide by electron cryomicroscopy and image analysis. We observed that the mutant S1 was attached to actin at highly variable angles compared to wild-type reconstructions, suggesting a severe disruption of the actin-myosin interaction at the interface.These results provide structural evidence that disarray at the molecular level may be linked to the histopathological myocyte disarray characteristic of the diseased state.

  10. Early mortality and primary causes of death in mothers of children with intellectual disability or autism spectrum disorder: a retrospective cohort study.

    Directory of Open Access Journals (Sweden)

    Jenny Fairthorne

    Full Text Available INTRODUCTION: Mothers of children with intellectual disability or autism spectrum disorder (ASD have poorer health than other mothers. Yet no research has explored whether this poorer health is reflected in mortality rates or whether certain causes of death are more likely. We aimed to calculate the hazard ratios for death and for the primary causes of death in mothers of children with intellectual disability or ASD compared to other mothers. METHODS: The study population comprised all mothers of live-born children in Western Australia from 1983-2005. We accessed state-wide databases which enabled us to link socio-demographic details, birth dates, diagnoses of intellectual disability or ASD in the children and dates and causes of death for all mothers who had died prior to 2011. Using Cox Regression with death by any cause and death by each of the three primary causes as the event of interest, we calculated hazard ratios for death for mothers of children intellectual disability or ASD compared to other mothers. RESULTS AND DISCUSSION: During the study period, mothers of children with intellectual disability or ASD had more than twice the risk of death. Mothers of children with intellectual disability were 40% more likely to die of cancer; 150% more likely to die of cardiovascular disease and nearly 200% more likely to die from misadventure than other mothers. Due to small numbers, only hazard ratios for cancer were calculated for mothers of children with ASD. These mothers were about 50% more likely to die from cancer than other mothers. Possible causes and implications of our results are discussed. CONCLUSION: Similar studies, pooling data from registries elsewhere, would improve our understanding of factors increasing the mortality of mothers of children with intellectual disability or ASD. This would allow the implementation of informed services and interventions to improve these mothers' longevity.

  11. Early Mortality and Primary Causes of Death in Mothers of Children with Intellectual Disability or Autism Spectrum Disorder: A Retrospective Cohort Study

    Science.gov (United States)

    Fairthorne, Jenny; Hammond, Geoff; Bourke, Jenny; Jacoby, Peter; Leonard, Helen

    2014-01-01

    Introduction Mothers of children with intellectual disability or autism spectrum disorder (ASD) have poorer health than other mothers. Yet no research has explored whether this poorer health is reflected in mortality rates or whether certain causes of death are more likely. We aimed to calculate the hazard ratios for death and for the primary causes of death in mothers of children with intellectual disability or ASD compared to other mothers. Methods The study population comprised all mothers of live-born children in Western Australia from 1983–2005. We accessed state-wide databases which enabled us to link socio-demographic details, birth dates, diagnoses of intellectual disability or ASD in the children and dates and causes of death for all mothers who had died prior to 2011. Using Cox Regression with death by any cause and death by each of the three primary causes as the event of interest, we calculated hazard ratios for death for mothers of children intellectual disability or ASD compared to other mothers. Results and Discussion During the study period, mothers of children with intellectual disability or ASD had more than twice the risk of death. Mothers of children with intellectual disability were 40% more likely to die of cancer; 150% more likely to die of cardiovascular disease and nearly 200% more likely to die from misadventure than other mothers. Due to small numbers, only hazard ratios for cancer were calculated for mothers of children with ASD. These mothers were about 50% more likely to die from cancer than other mothers. Possible causes and implications of our results are discussed. Conclusion Similar studies, pooling data from registries elsewhere, would improve our understanding of factors increasing the mortality of mothers of children with intellectual disability or ASD. This would allow the implementation of informed services and interventions to improve these mothers' longevity. PMID:25535971

  12. A treatable cause of myelopathy and vision loss mimicking neuromyelitis optica spectrum disorder: late-onset biotinidase deficiency.

    Science.gov (United States)

    Yilmaz, Sanem; Serin, Mine; Canda, Ebru; Eraslan, Cenk; Tekin, Hande; Ucar, Sema Kalkan; Gokben, Sarenur; Tekgul, Hasan; Serdaroglu, Gul

    2017-06-01

    Biotinidase deficiency is characterized by severe neurological manifestations as hypotonia, lethargy, ataxia, hearing loss, seizures and developmental retardation in its classical form. Late-onset biotinidase deficiency presents distinctly from the classical form such as limb weakness and vision problems. A 14-year-old boy presented with progressive vision loss and upper limb weakness. The patient was initiated steroid therapy with a preliminary diagnosis of neuromyelitis optica spectrum disorder due to the craniospinal imaging findings demonstrating optic nerve, brainstem and longitudinally extensive spinal cord involvement. Although the patient exhibited partial clinical improvement after pulse steroid therapy, craniocervical imaging performed one month after the initiation of steroid therapy did not show any regression. The CSF IgG index was <0.8 (normal: <0.8), oligoclonal band and aquaporin-4 antibodies were negative. Metabolic investigations revealed a low biotinidase enzyme activity 8% (0.58 nmoL/min/mL; normal range: 4.4 to 12). Genetic testing showed c.98-104delinsTCC and p.V457 M mutations in biotinidase (BTD) gene. At the third month of biotin replacement therapy, control craniospinal MRI demonstrated a complete regression of the lesions. The muscle strength of the case returned to normal. His visual acuity was 7/10 in the left eye and 9/10 in the right. The late-onset form of the biotinidase deficiency should be kept in mind in all patients with myelopathy with or without vision loss, particularly in those with inadequate response to steroid therapy. The family screening is important to identify asymptomatic individuals and timely treatment.

  13. Auditory verbal hallucinations in schizophrenia and post-traumatic stress disorder: common phenomenology, common cause, common interventions?

    Science.gov (United States)

    McCarthy-Jones, Simon; Longden, Eleanor

    2015-01-01

    Auditory verbal hallucinations (AVH: ‘hearing voices’) are found in both schizophrenia and post-traumatic stress disorder (PTSD). In this paper we first demonstrate that AVH in these two diagnoses share a qualitatively similar phenomenology. We then show that the presence of AVH in schizophrenia is often associated with earlier exposure to traumatic/emotionally overwhelming events, as it is by definition in PTSD. We next argue that the content of AVH relates to earlier traumatic events in a similar way in both PTSD and schizophrenia, most commonly having direct or indirect thematic links to emotionally overwhelming events, rather than being direct re-experiencing. We then propose, following cognitive models of PTSD, that the reconstructive nature of memory may be able to account for the nature of these associations between trauma and AVH content, as may threat-hypervigilance and the individual’s personal goals. We conclude that a notable subset of people diagnosed with schizophrenia with AVH are having phenomenologically and aetiologically identical experiences to PTSD patients who hear voices. As such we propose that the iron curtain between AVH in PTSD (often termed ‘dissociative AVH’) and AVH in schizophrenia (so-called ‘psychotic AVH’) needs to be torn down, as these are often the same experience. One implication of this is that these trauma-related AVH require a common trans-diagnostic treatment strategy. Whilst antipsychotics are already increasingly being used to treat AVH in PTSD, we argue for the centrality of trauma-based interventions for trauma-based AVH in both PTSD and in people diagnosed with schizophrenia. PMID:26283997

  14. Tailbone Disorders

    Science.gov (United States)

    ... the bottom of your backbone, or spine. Tailbone disorders include tailbone injuries, pain, infections, cysts and tumors. ... cause of such injuries. Symptoms of various tailbone disorders include pain in the tailbone area, pain upon ...

  15. Blood Disorders

    Science.gov (United States)

    ... blood cells, white blood cells and platelets. Blood disorders affect one or more parts of the blood ... They can be acute or chronic. Many blood disorders are inherited. Other causes include other diseases, side ...

  16. Panic Disorder

    Science.gov (United States)

    Panic disorder is a type of anxiety disorder. It causes panic attacks, which are sudden feelings of terror when ... or a cold chill Tingly or numb hands Panic attacks can happen anytime, anywhere, and without warning. ...

  17. 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. ...

  18. Exploring culture-specific differences in beliefs about causes, kinship and the heritability of major depressive disorder: the views of Anglo-Celtic and Chinese-Australians.

    Science.gov (United States)

    Xu, Mimi; Zou, Lilian; Wilde, Alex; Meiser, Bettina; Barlow-Stewart, Kristine; Chan, Bibiana; Mitchell, Philip B; Sousa, Mariana S; Schofield, Peter R

    2013-10-01

    The aim of this study was to explore cultural differences in causal attributions and beliefs about heritability of major depressive disorder (MDD). Face-to-face interviews with Anglo-Celtic- and Chinese-Australians community members with a family history of MDD were conducted and subjected to a rigorous qualitative analysis, using the computer software NVivo. Sixteen Anglo-Celtic-Australians and 16 Chinese-Australians were interviewed. Both groups believed that a combination of genetic and environmental factors contributed to MDD, that stress was an important cause of MDD, and that coping factors were significant moderators of the impact of stress on MDD. Both cultural groups believed that the causes of MDD affecting multiple family members included a shared family environment and a "contagion effect", in addition to genetics. Unique to the Chinese-Australian group was the beliefs that parental pressures to exceed academically contributed to MDD; this cultural group also reported beliefs that depression was due to God's will or alternatively fate, which in turn was related to attributions to feng shui and auspicious dates. This study documented key culture-specific differences in beliefs about causes and inheritance of MDD; such differences have major implications for clinician-patient communication about genetic risk associated with having a family history of MDD.

  19. 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

  20. Infantile mitochondrial disorder associated with subclinical hypothyroidism is caused by a rare mitochondrial DNA 8691A>G mutation: a case report.

    Science.gov (United States)

    Hao, Xiaosheng; Liu, Songyan; Wu, Xuemei; Hao, Yunpeng; Chen, Yinbo

    2015-07-08

    Mitochondrial diseases, ~15% of cases, are because of mitochondrial DNA mutations. This study reported a case of an 11-month-old male infant with mitochondrial disease characteristics and subclinical hypothyroidism (a high thyrotropin level). Laboratory tests were all normal and the enzymatic activities of mitochondrial respiratory chain enzyme complexes I-IV were normal. However, thyroid tests showed abnormal results, and complex V showed a deficiency activity of 52.8% of the low limit of healthy individuals (normal activity is >60.7%). The patient experienced convulsions, and the 24-h ambulatory electroencephalography results showed abnormalities, but the electromyography results were normal. Axial brain MRI showed abnormal dysplasia over the white matter myelination in the bilateral horn of the lateral ventricle. Furthermore, DNA sequencing data showed a novel mutation at 8691A>G of the mitochondrial ATPase 6 gene. This case adds to the growing literature of mitochondrial disorders caused by mitochondrial ATPase 6 mutations.

  1. Who gets afraid in the MRI-scanner? Neurogenetics of state-anxiety changes during an fMRI experiment.

    Science.gov (United States)

    Mutschler, Isabella; Wieckhorst, Birgit; Meyer, Andrea H; Schweizer, Tina; Klarhöfer, Markus; Wilhelm, Frank H; Seifritz, Erich; Ball, Tonio

    2014-11-07

    Experiments using functional magnetic resonance imaging (fMRI) play a fundamental role in affective neuroscience. When placed in an MR scanner, some volunteers feel safe and relaxed in this situation, while others experience uneasiness and fear. Little is known about the basis and consequences of such inter-individually different responses to the general experimental fMRI setting. In this study emotional stimuli were presented during fMRI and subjects' state-anxiety was assessed at the onset and end of the experiment while they were within the scanner. We show that Val/Val but neither Met/Met nor Val/Met carriers of the catechol-O-methyltransferase (COMT) Val(158)Met polymorphism-a prime candidate for anxiety vulnerability-became significantly more anxious during the fMRI experiment (N=97 females: 24 Val/Val, 51 Val/Met, and 22 Met/Met). Met carriers demonstrated brain responses with increased stability over time in the right parietal cortex and significantly better cognitive performances likely mediated by lower levels of anxiety. Val/Val, Val/Met and Met/Met did not significantly differ in state-anxiety at the beginning of the experiment. The exposure of a control group (N=56 females) to the same experiment outside the scanner did not cause a significant increase in state-anxiety, suggesting that the increase we observe in the fMRI experiment may be specific to the fMRI setting. Our findings reveal that genetics may play an important role in shaping inter-individual different emotional, cognitive and neuronal responses during fMRI experiments. Copyright © 2014 Elsevier Ireland Ltd. All rights reserved.

  2. Metabolic syndrome, major depression, generalized anxiety disorder, and ten-year all-cause and cardiovascular mortality in middle aged and elderly patients.

    Science.gov (United States)

    Butnoriene, Jurate; Bunevicius, Adomas; Saudargiene, Ausra; Nemeroff, Charles B; Norkus, Antanas; Ciceniene, Vile; Bunevicius, Robertas

    2015-01-01

    Studies investigating specifically whether metabolic syndrome (MetS) and common psychiatric disorders are independently associated with mortality are lacking. In a middle-aged general population, we investigated the association of the MetS, current major depressive episode (MDE), lifetime MDE, and generalized anxiety disorder (GAD) with ten-year all-cause and cardiovascular disease mortality. From February 2003 until January 2004, 1115 individuals aged 45 years and older were randomly selected from a primary care practice and prospectively evaluated for: (1) MetS (The World Health Organization [WHO], National Cholesterol Education Program/Adult Treatment Panel III and International Diabetes Federation [IDF] definitions); (2) current MDE and GAD, and lifetime MDE (Mini International Neuropsychiatric Interview); and (3) conventional cardiovascular risk factors. Follow-up continued through January, 2013. During the 9.32 ± 0.47 years of follow-up, there were 248 deaths, of which 148 deaths were attributed to cardiovascular causes. In women, WHO-MetS and IDF-MetS were associated with greater all-cause (HR-values range from 1.77 to 1.91; p-values ≤ 0.012) and cardiovascular (HR-values range from 1.83 to 2.77; p-values ≤ 0.013) mortality independent of cardiovascular risk factors and MDE/GAD. Current GAD predicted greater cardiovascular mortality (HR-values range from 1.86 to 1.99; p-values ≤ 0.025) independently from MetS and cardiovascular risk factors. In men, the MetS and MDE/GAD were not associated with mortality. In middle aged women, the MetS and GAD predicted greater 10-year cardiovascular mortality independently from each other; 10-year all-cause mortality was independently predicted by the MetS. MetS and GAD should be considered important and independent mortality risk factors in women. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

  3. Effect of radiosynovectomy in patients with inflammatory joint disorders not caused by rheumatoid arthritis; Wirksamkeit der Radiosynoviorthese bei degenerativ-entzuendlichen und chronisch-entzuendlichen Gelenkerkrankungen

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    Kroeger, S.; Klutmann, S.; Bohuslavizki, K.H.; Clausen, M. [Universitaetskrankenhaus Eppendorf, Hamburg (Germany). Abt. fuer Nuklearmedizin; Sawula, J.A.; Brenner, W.; Henze, E. [Kiel Univ. (Germany). Klinik fuer Nuklearmedizin

    1999-07-01

    Aim: Effect of radiosynovectomy (RS) should be evaluated both by subjective and objective parameters in patients with osteoarthritis and in patients with inflammatory joint disorders not caused by rheumatoid arthritis. Methods: A total of 98 joints in 61 patients were investigated. Patients were divided into two groups. The first group included 35 patients with therapy-resistant effusions caused by severe osteoarthritis (46 joints). The second group consisted of 26 patients (52 joints) with ankylosing spondylitis, reactive arthritis, undifferentiated spondylarthropathy, psoriatic arthritis, pigmented villo-nodular synovitis, and recurrent synovitis following surgery. Effect of RS was evaluated by a standardized questionnaire and quantified by T/B-ratios derived from blood pool images prior to and after RS. Results: Within the first patient group suffering from osteoarthritis, 40% showed a good or excellent improvement of clinical symptoms, 51% were unchanged, and in 9% symptoms worsened. Similar results were found in the second patient group. The majority of unchanged results were small finger joints. In contrast, wrist and knee joints showed a better improvement. Good correlation between results of bone scan and patients subjective impression was found in 38% and 67% in the first and the second patient group, respectively. Conclusion: Radiosynovectomy might be an effective treatment in osteoarthritis and inflammatory joint disorders not caused by rheumatoid arthritis. (orig.) [German] Ziel: Der Therapieerfolg der Radiosynoviorthese (RSO) sollte bei aktivierter Arthrose und anderen chronisch-entzuendlichen Gelenkerkrankungen anhand der subjektiven Befindlichkeit und objektiver Parameter evaluiert werden. Methoden: Es wurden insgesamt 98 Gelenke bei 61 Patienten behandelt. Entsprechend der Grunderkrankung umfasste die erste Gruppe 35 Patienten mit einer therapieresistenten, aktivierten Arthrose (46 Gelenke). Die zweite Patientengruppe beinhaltete 26 Patienten (52

  4. 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

    Despite its estimated high heritability, the genetic architecture leading to differences in cognitive performance remains poorly understood. Different cortical regions play important roles in normal cognitive functioning and impairment. Recently, we reported on sets of regionally enriched genes...... 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...

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

    Science.gov (United States)

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

    2010-01-01

    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, respectively, were modestly and substantially more prevalent in participants with ASD than reported population estimates. Double dissociations in speech, prosody, and voice impairments in ASD were interpreted as consistent with a speech attunement framework, rather than with the motor speech impairments that define CAS. Key Words: apraxia, dyspraxia, motor speech disorder, speech sound disorder PMID:20972615

  6. [Substance use disorders as a cause and consequence of childhood abuse. Basic research, therapy and prevention in the BMBF-funded CANSAS-Network].

    Science.gov (United States)

    Schäfer, Ingo; Barnow, Sven; Pawils, Silke

    2016-01-01

    Substance use disorders (SUDs) belong to the most frequent behavioural consequences of childhood abuse and neglect (CAN). In community samples, about 20% of adults with experiences of abuse or neglect in childhood have a lifetime diagnosis of an SUD. About 30% of individuals seeking treatment for a post-traumatic disorder have an SUD and 24–67% of all patients in treatment for an SUD have a history of CAN. About 16% of all children and adolescents under the age of 20 in Germany grow up in families where an alcohol- and/or drug-dependence is present. The children of parents with SUDs have, in addition to other risks to their development in cognitive and psychosocial domains, an increased risk of experiencing violence and neglect. Regarding both perspectives, SUD as a cause and as a consequence of CAN, a better understanding of relevant mediators and risk factors is necessary to improve prevention and develop adequate treatments. The aims of the BMBF-funded research network CANSAS are: 1. To gain a better understanding of the relationships between these two important public health problems (basic research), 2. To provide evidence-based treatments for survivors of CAN with SUDs and to increase the awareness for the necessity to diagnose CAN in patients with SUDs in counselling and treatment facilities (research on diagnostics and therapy), 3. To improve the systematic evaluation of child welfare among children of parents with SUDs through counselling services and to promote links between addiction services and youth welfare services (prevention research and health services research). In a multidisciplinary approach, the CANSAS network brings together experts in the fields of trauma treatment, epidemiology, basic research, health services research, prevention research as well as addiction services.

  7. Nocturnal agitation in Huntington disease is caused by arousal-related abnormal movements rather than by rapid eye movement sleep behavior disorder.

    Science.gov (United States)

    Neutel, Dulce; Tchikviladzé, Maya; Charles, Perrine; Leu-Semenescu, Smaranda; Roze, Emmanuel; Durr, Alexandra; Arnulf, Isabelle

    2015-06-01

    Patients with Huntington disease (HD) and their spouses often complain of agitation during sleep, but the causes are mostly unknown. To evaluate sleep and nocturnal movements in patients with various HD stages and CAG repeats length. The clinical features and sleep studies of 29 patients with HD were retrospectively collected (11 referred for genotype-phenotype correlations and 18 for agitation during sleep) and compared with those of 29 age- and sex-matched healthy controls. All patients had videopolysomnography, but the movements during arousals were re-analyzed in six patients with HD with stored video. The patients had a longer total sleep period and REM sleep onset latency, but no other differences in sleep than controls. There was no correlation between CAG repeat length and sleep measures, but total sleep time and sleep efficiency were lower in the subgroup with moderate than milder form of HD. Periodic limb movements and REM sleep behavior disorders were excluded, although 2/29 patients had abnormal REM sleep without atonia. In contrast, they had clumsy and opisthotonos-like movements during arousals from non-REM or REM sleep. Some movements were violent and harmful. They might consist of voluntary movements inappropriately involving the proximal part of the limbs on a background of exaggerated hypotonia. Giant (>65 mcV) sleep spindles were observed in seven (24%) patients with HD and one control. The nocturnal agitation in patients with HD seems related to anosognostic voluntary movements on arousals, rather than to REM sleep behavior disorder and other sleep problems. Copyright © 2014 Elsevier B.V. All rights reserved.

  8. Copy number variation of two separate regulatory regions upstream of SOX9 causes isolated 46,XY or 46,XX disorder of sex development.

    Science.gov (United States)

    Kim, Gwang-Jin; Sock, Elisabeth; Buchberger, Astrid; Just, Walter; Denzer, Friederike; Hoepffner, Wolfgang; German, James; Cole, Trevor; Mann, Jillian; Seguin, John H; Zipf, William; Costigan, Colm; Schmiady, Hardi; Rostásy, Moritz; Kramer, Mildred; Kaltenbach, Simon; Rösler, Bernd; Georg, Ina; Troppmann, Elke; Teichmann, Anne-Christin; Salfelder, Anika; Widholz, Sebastian A; Wieacker, Peter; Hiort, Olaf; Camerino, Giovanna; Radi, Orietta; Wegner, Michael; Arnold, Hans-Henning; Scherer, Gerd

    2015-04-01

    SOX9 mutations cause the skeletal malformation syndrome campomelic dysplasia in combination with XY sex reversal. Studies in mice indicate that SOX9 acts as a testis-inducing transcription factor downstream of SRY, triggering Sertoli cell and testis differentiation. An SRY-dependent testis-specific enhancer for Sox9 has been identified only in mice. A previous study has implicated copy number variations (CNVs) of a 78 kb region 517-595 kb upstream of SOX9 in the aetiology of both 46,XY and 46,XX disorders of sex development (DSD). We wanted to better define this region for both disorders. By CNV analysis, we identified SOX9 upstream duplications in three cases of SRY-negative 46,XX DSD, which together with previously reported duplications define a 68 kb region, 516-584 kb upstream of SOX9, designated XXSR (XX sex reversal region). More importantly, we identified heterozygous deletions in four families with SRY-positive 46,XY DSD without skeletal phenotype, which define a 32.5 kb interval 607.1-639.6 kb upstream of SOX9, designated XY sex reversal region (XYSR). To localise the suspected testis-specific enhancer, XYSR subfragments were tested in cell transfection and transgenic experiments. While transgenic experiments remained inconclusive, a 1.9 kb SRY-responsive subfragment drove expression specifically in Sertoli-like cells. Our results indicate that isolated 46,XY and 46,XX DSD can be assigned to two separate regulatory regions, XYSR and XXSR, far upstream of SOX9. The 1.9 kb SRY-responsive subfragment from the XYSR might constitute the core of the Sertoli-cell enhancer of human SOX9, representing the so far missing link in the genetic cascade of male sex determination. 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.

  9. [Neurobiology and neurogenetics of dyslexia].

    Science.gov (United States)

    Benítez-Burraco, A

    2010-01-01

    Dyslexia is a learning disability in which reading (but not any other) impairment is the most prominent symptom. There seems to be a high comorbidity among dyslexia and other learning disabilities, such as SLI, SSD or ADHD. The nulear deficit in dyslexia appears to correspond to an impairment in phonological processing. Structural and functional studies in dyslexic readers converge to indicate the presence of malformations in the brain areas corresponding to the reading systems, but also a failure of these systems to function properly during reading. Genes linked (or associated) to dyslexia have been shown to be involved in neuronal migration and axon guidance during the formation of the cortex. In the developing cerebral neocortex of rats, local loss of function of most of these genes not only results in abnormal neuronal migration and neocortical and hippocampal malformations, but also in deficits related to auditory processing and learning. While the structural malformations resemble neuronal migration abnormalities observed in the brains of individuals with developmental dyslexia, processing/learning deficits also resemble deficits described in individuals affected by the disease. On the whole, dyslexia seems to be on a continuum with typical reading at different biological levels (genetic, biochemical, physiological, cognitive). Furthermore, certain elements belonging to some of these levels (mainly -some of the- genes linked or associated to the disease, but also -some of the- neuronal structures whose development is regulated by these genes) would simultaneously belong to those of other cognitive abilities, which give rise to diseases of a different nature (i.e. non- dyslexic impairments) when they are impaired. Copyright © 2009 Sociedad Española de Neurología. Published by Elsevier Espana. All rights reserved.

  10. An ADAMTSL2 founder mutation causes Musladin-Lueke Syndrome, a heritable disorder of beagle dogs, featuring stiff skin and joint contractures.

    Directory of Open Access Journals (Sweden)

    Hannah L Bader

    2010-09-01

    Full Text Available Musladin-Lueke Syndrome (MLS is a hereditary disorder affecting Beagle dogs that manifests with extensive fibrosis of the skin and joints. In this respect, it resembles human stiff skin syndrome and the Tight skin mouse, each of which is caused by gene defects affecting fibrillin-1, a major component of tissue microfibrils. The objective of this work was to determine the genetic basis of MLS and the molecular consequence of the identified mutation.We mapped the locus for MLS by genome-wide association to a 3.05 Mb haplotype on canine chromosome 9 (CFA9 (50.11-54.26; p(raw T; p.R221C perfectly associated with MLS (p-value=10(-12. Murine ADAMTSL2 containing the p.R221C mutation formed anomalous disulfide-bonded dimers when transiently expressed in COS-1, HEK293F and CHO cells, and was present in the medium of these cells at lower levels than wild-type ADAMTSL2 expressed in parallel.The genetic basis of MLS is a founder mutation in ADAMTSL2, previously shown to interact with latent TGF-β binding protein, which binds fibrillin-1. The molecular effect of the founder mutation on ADAMTSL2 is formation of disulfide-bonded dimers. Although caused by a distinct mutation, and having a milder phenotype than human GD, MLS nevertheless offers a new animal model for study of GD, and for prospective insights on mechanisms and pathways of skin fibrosis and joint contractures.

  11. Biting the hand that feeds: current opinion on the interpersonal causes, correlates, and consequences of borderline personality disorder [version 1; referees: 2 approved

    Directory of Open Access Journals (Sweden)

    Sheila E. Crowell

    2016-11-01

    Full Text Available Borderline personality disorder (BPD is a complex psychiatric diagnosis characterized by dysregulated behaviors, emotions, cognitions, and interpersonal relationships. In recent years, developmental psychopathologists have sought to identify early origins of BPD, with the ultimate goal of developing and providing effective preventative interventions for those at highest risk. In addition to heritable biological sensitivities, many scholars assert that environmental and interpersonal risk factors contribute to the emergence and maintenance of key borderline traits. Nonetheless, many BPD researchers examine only affected individuals, neglecting the family, peer, couple, and other dynamic contextual forces that impinge upon individual-level behavior. In the past decade, however, theoretical and empirical research has increasingly explored the interpersonal causes, correlates, and consequences of BPD. Such work has resulted in novel research and clinical theories intended to better understand and improve interpersonal dynamics among those with borderline traits. A major objective for the field is to better characterize how interpersonal dynamics affect (and are affected by the behaviors, emotions, and thoughts of vulnerable individuals to either reduce or heighten risk for BPD.

  12. Could ehrlichial infection cause some of the changes associated with leukemia, myelodysplastic diseases and autoimmune disorders, and offer antibiotic treatment options?

    Science.gov (United States)

    Kallick, Charles A; Friedman, Daniel A; Nyindo, Mramba B A

    2015-12-01

    We hypothesize that a large group of medical conditions of unknown etiology including leukemia, multiple myeloma, myelodysplastic and autoimmune disorders, may be associated with or caused by an obscure group of intracellular obligate parasitic bacteria named Ehrlichia/Anaplasma (EA). Ensconced in the stem cells of the bone marrow, EA may disrupt the normal development and function of many of the cells of immunity, manifesting itself as different syndromes. Recent studies of the activity of EA suggest direct effects on the immune system consistent with the manifestations of leukemia. We reference here three leukemia patients with direct or indirect evidence of EA infection. Moreover, EA have been shown to be most sensitive to rifamycins. Two moribund leukemia patients with levels of platelets and white cells incompatible with life were treated with therapeutic doses of Rifampin. Though they did not survive, their condition improved dramatically for a time, suggesting Rifampin provided some therapeutic benefit. We assert that these results warrant more extensive study. Copyright © 2015. Published by Elsevier Ltd.

  13. Next generation sequencing for molecular diagnosis of neurological disorders using ataxias as a model.

    Science.gov (United States)

    Németh, Andrea H; Kwasniewska, Alexandra C; Lise, Stefano; Parolin Schnekenberg, Ricardo; Becker, Esther B E; Bera, Katarzyna D; Shanks, Morag E; Gregory, Lorna; Buck, David; Zameel Cader, M; Talbot, Kevin; de Silva, Rajith; Fletcher, Nicholas; Hastings, Rob; Jayawant, Sandeep; Morrison, Patrick J; Worth, Paul; Taylor, Malcolm; Tolmie, John; O'Regan, Mary; Valentine, Ruth; Packham, Emily; Evans, Julie; Seller, Anneke; Ragoussis, Jiannis

    2013-10-01

    Many neurological conditions are caused by immensely heterogeneous gene mutations. The diagnostic process is often long and complex with most patients undergoing multiple invasive and costly investigations without ever reaching a conclusive molecular diagnosis. The advent of massively parallel, next-generation sequencing promises to revolutionize genetic testing and shorten the 'diagnostic odyssey' for many of these patients. We performed a pilot study using heterogeneous ataxias as a model neurogenetic disorder to assess the introduction of next-generation sequencing into clinical practice. We captured 58 known human ataxia genes followed by Illumina Next-Generation Sequencing in 50 highly heterogeneous patients with ataxia who had been extensively investigated and were refractory to diagnosis. All cases had been tested for spinocerebellar ataxia 1-3, 6, 7 and Friedrich's ataxia and had multiple other biochemical, genetic and invasive tests. In those cases where we identified the genetic mutation, we determined the time to diagnosis. Pathogenicity was assessed using a bioinformatics pipeline and novel variants were validated using functional experiments. The overall detection rate in our heterogeneous cohort was 18% and varied from 8.3% in those with an adult onset progressive disorder to 40% in those with a childhood or adolescent onset progressive disorder. The highest detection rate was in those with an adolescent onset and a family history (75%). The majority of cases with detectable mutations had a childhood onset but most are now adults, reflecting the long delay in diagnosis. The delays were primarily related to lack of easily available clinical testing, but other factors included the presence of atypical phenotypes and the use of indirect testing. In the cases where we made an eventual diagnosis, the delay was 3-35 years (mean 18.1 years). Alignment and coverage metrics indicated that the capture and sequencing was highly efficient and the consumable cost

  14. Reduction in hepatic drug metabolizing CYP3A4 activities caused by P450 oxidoreductase mutations identified in patients with disordered steroid metabolism

    Energy Technology Data Exchange (ETDEWEB)

    Flueck, Christa E.; Mullis, Primus E. [Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Tiefenaustrasse 120c, CH 3004 Bern (Switzerland); Pandey, Amit V., E-mail: amit@pandeylab.org [Pediatric Endocrinology, Diabetology and Metabolism, Department of Clinical Research, University of Bern, Tiefenaustrasse 120c, CH 3004 Bern (Switzerland)

    2010-10-08

    Research highlights: {yields} Cytochrome P450 3A4 (CYP3A4), metabolizes 50% of drugs in clinical use and requires NADPH-P450 reductase (POR). {yields} Mutations in human POR cause congenital adrenal hyperplasia from diminished activities of steroid metabolizing P450s. {yields} We are reporting that mutations in POR may reduce CYP3A4 activity. {yields} POR mutants Y181D, A457H, Y459H, V492E and R616X lost 99%, while A287P, C569Y and V608F lost 60-85% CYP3A4 activity. {yields} Reduction of CYP3A4 activity may cause increased risk of drug toxicities/adverse drug reactions in patients with POR mutations. -- Abstract: Cytochrome P450 3A4 (CYP3A4), the major P450 present in human liver metabolizes approximately half the drugs in clinical use and requires electrons supplied from NADPH through NADPH-P450 reductase (POR, CPR). Mutations in human POR cause a rare form of congenital adrenal hyperplasia from diminished activities of steroid metabolizing P450s. In this study we examined the effect of mutations in POR on CYP3A4 activity. We used purified preparations of wild type and mutant human POR and in vitro reconstitution with purified CYP3A4 to perform kinetic studies. We are reporting that mutations in POR identified in patients with disordered steroidogenesis/Antley-Bixler syndrome (ABS) may reduce CYP3A4 activity, potentially affecting drug metabolism in individuals carrying mutant POR alleles. POR mutants Y181D, A457H, Y459H, V492E and R616X had more than 99% loss of CYP3A4 activity, while POR mutations A287P, C569Y and V608F lost 60-85% activity. Loss of CYP3A4 activity may result in increased risk of drug toxicities and adverse drug reactions in patients with POR mutations.

  15. Histrionic personality disorder

    Science.gov (United States)

    Personality disorder - histrionic; Attention seeking - histrionic personality disorder ... Causes of histrionic personality disorder are unknown. Genes and early childhood events may be responsible. It is diagnosed more often in women than ...

  16. Dandruff: Symptoms and Causes

    Science.gov (United States)

    ... during the summer. A type of dandruff called cradle cap can affect babies. This disorder, which causes a ... infancy. Although it can be alarming for parents, cradle cap isn't dangerous and usually clears up on ...

  17. Specific Language Impairment, Nonverbal IQ, Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Cochlear Implants, Bilingualism, and Dialectal Variants: Defining the Boundaries, Clarifying Clinical Conditions, and Sorting out Causes

    Science.gov (United States)

    Rice, Mabel L.

    2016-01-01

    Purpose: The purpose of this research forum article is to provide an overview of a collection of invited articles on the topic "specific language impairment (SLI) in children with concomitant health conditions or nonmainstream language backgrounds." Topics include SLI, attention-deficit/hyperactivity disorder, autism spectrum disorder,…

  18. Sex differences of anxiety disorders: Possible psychobiological causes - Diferencias entre hombres y mujeres en los trastornos de ansiedad: una aproximación psicobiológica

    Directory of Open Access Journals (Sweden)

    Mª Carmen Arenas

    2009-12-01

    Full Text Available Anxiety disorders are common in both men and women and are particularly disabling for the sufferer. Women of reproductive age are more vulnerable to developing these mental disorders than men; in fact their prevalence is 2-3 times higher among females than among males. Sex differences have also been reported in relation to the manifestation and expression of symptoms, the will to request medical or psychological assistance, the course of the disease, and even in the response to treatment. These sex differences may be attributable to multiple factors, such as genetic predisposition, anatomy, hormones and environment. However, very little is known about the risk factors for women with respect to developing anxiety disorders, and so the origins of sex differences in these disorders is an important topic of research. We consider that variations in stress reactivity may be one of the mechanisms underlying gender differences in anxiety disorders. The purpose of this brief review is to highlight data on the psychobiological factors that make women more prone to suffering anxiety disorders than men.

  19. Voice Disorders

    Science.gov (United States)

    ... on the vocal cords. Other causes of voice disorders include infections, upward movement of stomach acids into ... throat, growths due to a virus, cancer, and diseases that paralyze the vocal cords. Signs that your ...

  20. Muscle Disorders

    Science.gov (United States)

    Your muscles help you move and help your body work. Different types of muscles have different jobs. There are many problems that can affect muscles. Muscle disorders can cause weakness, pain or even ...

  1. Conduct disorder

    Science.gov (United States)

    ... involve defiant or impulsive behavior, drug use, or criminal activity. Causes Conduct disorder has been linked to: ... 2nd ed. Philadelphia, PA: Elsevier; 2016:chap 23. Review Date 2/21/2017 Updated by: Timothy Rogge, ...

  2. Eating Disorders

    Science.gov (United States)

    ... caused by a complex interaction of genetic, biological, behavioral, psychological, and social factors. Researchers are using the latest technology and science to better understand eating disorders. One approach involves ...

  3. Genetic Disorders

    Science.gov (United States)

    ... 21 (Down syndrome) . Other trisomies include trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome) . Monosomy is ... which there is an extra chromosome. Trisomy 13 (Patau Syndrome): A chromosomal disorder that causes serious problems ...

  4. Dementia due to metabolic causes

    Science.gov (United States)

    Chronic brain - metabolic; Mild cognitive - metabolic; MCI - metabolic ... Possible metabolic causes of dementia include: Hormonal disorders, such as Addison disease , Cushing disease Heavy metal exposure, such as ...

  5. Communication partner training of enrolled nurses working in nursing homes with people with communication disorders caused by stroke or Parkinson's disease.

    Science.gov (United States)

    Eriksson, Karin; Forsgren, Emma; Hartelius, Lena; Saldert, Charlotta

    2016-01-01

    To evaluate the effect of a communication partner training programme directed to enrolled nurses working with people with communication disorders in nursing homes, using an individualised approach. Five dyads consisting of a person with stroke-induced aphasia (n = 4) or Parkinson's disease (PD) (n = 1) living in different nursing homes and his/her enrolled nurse participated in the study, which had a replicated single-subject design with multiple baselines across individuals. The main element of the intervention was supervised analysis of video-recorded natural interaction in everyday nursing situations and the formulation of individual goals to change particular communicative strategies. Outcome was measured via blinded assessments of filmed natural interaction obtained at baseline, intervention and follow-up and showed an increased use of the target communicative strategies. Subjective measures of goal attainment by the enrolled nurses were consistent with these results. Measures of perceived functional communication on behalf of the persons with communication disorders were mostly positive; four of five participants with communication disorders and two of five enrolled nurses reported improved functional communication after intervention. The use of an individualised communication partner training programme led to significant changes in natural interaction, which contributes importantly to a growing body of knowledge regarding communication partner training. Communication partner training can improve the communicative environment of people with communication disorders. For people with communication disorders who live in institutions, the main conversation partner is likely to be a professional caretaker. An individualised approach for communication partner training that focussed on specific communication patterns was successful in increasing the use of supportive strategies that enrolled nurses used in natural interaction with persons with communication disorders

  6. Excess Mortality and Causes of Death in Autism Spectrum Disorders: A Follow up of the 1980s Utah/UCLA Autism Epidemiologic Study

    Science.gov (United States)

    Bilder, Deborah; Botts, Elizabeth L.; Smith, Ken R.; Pimentel, Richard; Farley, Megan; Viskochil, Joseph; McMahon, William M.; Block, Heidi; Ritvo, Edward; Ritvo, Riva-Ariella; Coon, Hilary

    2013-01-01

    This study's purpose was to investigate mortality among individuals with autism spectrum disorders (ASD) ascertained during a 1980s statewide autism prevalence study (n = 305) in relation to controls. Twenty-nine of these individuals (9.5 %) died by the time of follow up, representing a hazard rate ratio of 9.9 (95 % CI 5.7-17.2) in relation to…

  7. Effort–reward imbalance, overcommitment and their associations with all-cause and mental disorder long-term sick leave – A case-control study of the Swedish working population

    Directory of Open Access Journals (Sweden)

    Ulrik Lidwall

    2016-12-01

    Full Text Available Objectives: To investigate if effort–reward imbalance (ERI and overcommitment (OC are associated with all-cause and mental disorder long-term sick leave (LS, and to identify differences in associations between genders, private versus public sector employees and socioeconomic status groups. Material and Methods: The study uses a cross-sectional case-control design with a sample of 3477 persons on long-term sick leave of more than 59 days and a control group of 2078 in employment. Data on sick leave originate from social insurance registers, while data on health, working and living conditions were gathered through a survey. The binary logistic regression was used to test the multivariate associations. Results: Effort–reward imbalance was associated with all-cause LS among the women (odds ratio (OR = 1.58, 95% CI: 1.2–2.08, but not among the men. Associations for mental disorder LS were evident for both ERI and OC among both genders (ERI/OC: women OR = 2.76/2.82; men OR = 2.18/2.92. For the men these associations were driven by high effort, while for the women it was low job esteem in public sector and low job security in private sector. Among the highly educated women, ERI was strongly related to mental disorder LS (OR = 6.94, 95% CI: 3.2–15.04, while the highly educated men seemed to be strongly affected by OC for the same outcome (OR = 5.79, 95% CI: 1.48–22.57. Conclusions: The study confirmed the independent roles of ERI and OC for LS, with stronger associations among the women and for mental disorders. The ERI model is a promising tool that can contribute to understanding the prevailing gender gap in sick leave and increasing sick leave due to mental disorders. Int J Occup Med Environ Health 2016;29(6:973–989

  8. 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 ...

  9. Speech and Communication Disorders

    Science.gov (United States)

    Many disorders can affect our ability to speak and communicate. They range from saying sounds incorrectly to being completely ... to speak or understand speech. Causes include Hearing disorders and deafness Voice problems, such as dysphonia or ...

  10. Facial Injuries and Disorders

    Science.gov (United States)

    Face injuries and disorders can cause pain and affect how you look. In severe cases, they can affect sight, ... your nose, cheekbone and jaw, are common facial injuries. Certain diseases also lead to facial disorders. For ...

  11. Binge eating disorder

    Science.gov (United States)

    Eating disorder - binge eating; Eating - binge; Overeating - compulsive; Compulsive overeating ... The exact cause of binge eating is unknown. Things that may lead to this disorder include: Genes, such as having close relatives who also have an eating ...

  12. Transient tic disorder

    Science.gov (United States)

    ... makes 1 or many brief, repeated, movements or noises (tics). These movements or noises are involuntary (not on purpose). Causes Transient tic ... less than a year. Other disorders such as anxiety , attention deficit hyperactivity disorder ( ADHD ), uncontrollable movement ( myoclonus ), ...

  13. Disorder of written expression

    Science.gov (United States)

    ... disorder Reading disorder ADHD Symptoms Symptoms may include: Errors in grammar and punctuation Poor handwriting Poor spelling Poorly organized writing Has to say words aloud when writing Exams and Tests Other causes of learning disabilities must be ruled out before ...

  14. 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.

  15. HPRT deficiency as the cause of ESRD in a 24-year-old patient: a very rare presentation of the disorder.

    Science.gov (United States)

    Kassimatis, T I; Simmonds, H A; Goudas, P C; Marinaki, A M; Fairbanks, L D; Diamandopoulos, A A

    2005-01-01

    A 24-year-old male with end-stage renal disease (ESRD) and disproportionately high uric acid plasma concentration was admitted to our unit. After studying the patient's medical history, as well as that of the entire family, hyperuricemia was discovered in his brother, while microscopic examination of his brother's and mother's urine revealed abundant uric acid crystals. After performing purine metabolic studies, it was determined that the two siblings suffered from partial hypoxanthine-guanine phosphoribosyltransferase (HPRT) deficiency (Kelley-Seegmiller syndrome). This report highlights the importance of clinical awareness and a thorough examination of the patient's medical history for establishing an early diagnosis and commencing treatment for such rare inherited metabolic disorders to prevent renal failure.

  16. 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.

  17. The novel p.E89K mutation in the SRY gene inhibits DNA binding and causes the 46,XY disorder of sex development

    Directory of Open Access Journals (Sweden)

    J.L. Cunha

    2011-04-01

    Full Text Available Male sex determination in humans is controlled by the SRY gene, which encodes a transcriptional regulator containing a conserved high mobility group box domain (HMG-box required for DNA binding. Mutations in the SRY HMG-box affect protein function, causing sex reversal phenotypes. In the present study, we describe a 19-year-old female presenting 46,XY karyotype with hypogonadism and primary amenorrhea that led to the diagnosis of 46,XY complete gonadal dysgenesis. The novel p.E89K missense mutation in the SRY HMG-box was identified as a de novo mutation. Electrophoretic mobility shift assays showed that p.E89K almost completely abolished SRY DNA-binding activity, suggesting that it is the cause of SRY function impairment. In addition, we report the occurrence of the p.G95R mutation in a 46,XY female with complete gonadal dysgenesis. According to the three-dimensional structure of the human SRY HMG-box, the substitution of the conserved glutamic acid residue by the basic lysine at position 89 introduces an extra positive charge adjacent to and between the positively charged residues R86 and K92, important for stabilizing the HMG-box helix 2 with DNA. Thus, we propose that an electrostatic repulsion caused by the proximity of these positive charges could destabilize the tip of helix 2, abrogating DNA interaction.

  18. Specific Language Impairment, Nonverbal IQ, Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, Cochlear Implants, Bilingualism, and Dialectal Variants: Defining the Boundaries, Clarifying Clinical Conditions, and Sorting Out Causes.

    Science.gov (United States)

    Rice, Mabel L

    2016-02-01

    The purpose of this research forum article is to provide an overview of a collection of invited articles on the topic "specific language impairment (SLI) in children with concomitant health conditions or nonmainstream language backgrounds." Topics include SLI, attention-deficit/hyperactivity disorder, autism spectrum disorder, cochlear implants, bilingualism, and dialectal language learning contexts. The topic is timely due to current debates about the diagnosis of SLI. An overarching comparative conceptual framework is provided for comparisons of SLI with other clinical conditions. Comparisons of SLI in children with low-normal or normal nonverbal IQ illustrate the unexpected outcomes of 2 × 2 comparison designs. Comparative studies reveal unexpected relationships among speech, language, cognitive, and social dimensions of children's development as well as precise ways to identify children with SLI who are bilingual or dialect speakers. The diagnosis of SLI is essential for elucidating possible causal pathways of language impairments, risks for language impairments, assessments for identification of language impairments, linguistic dimensions of language impairments, and long-term outcomes. Although children's language acquisition is robust under high levels of risk, unexplained individual variations in language acquisition lead to persistent language impairments.

  19. A CGG-repeat expansion mutation in ZNF713 causes FRA7A: association with autistic spectrum disorder in two families.

    Science.gov (United States)

    Metsu, Sofie; Rainger, Jacqueline K; Debacker, Kim; Bernhard, Birgitta; Rooms, Liesbeth; Grafodatskaya, Daria; Weksberg, Rosanna; Fombonne, Eric; Taylor, Martin S; Scherer, Stephen W; Kooy, R Frank; FitzPatrick, David R

    2014-11-01

    We report de novo occurrence of the 7p11.2 folate-sensitive fragile site FRA7A in a male with an autistic spectrum disorder (ASD) due to a CGG-repeat expansion mutation (∼450 repeats) in a 5' intron of ZNF713. This expanded allele showed hypermethylation of the adjacent CpG island with reduced ZNF713 expression observed in a proband-derived lymphoblastoid cell line (LCL). His unaffected mother carried an unmethylated premutation (85 repeats). This CGG-repeat showed length polymorphism in control samples (five to 22 repeats). In a second unrelated family, three siblings with ASD and their unaffected father were found to carry FRA7A premutations, which were partially or mosaically methylated. In one of the affected siblings, mitotic instability of the premutation was observed. ZNF713 expression in LCLs in this family was increased in three of these four premutation carriers. A firm link cannot yet be established between ASD and the repeat expansion mutation but plausible pathogenic mechanisms are discussed. © 2014 WILEY PERIODICALS, INC.

  20. CMP-Neu5Ac Hydroxylase Null Mice as a Model for Studying Metabolic Disorders Caused by the Evolutionary Loss of Neu5Gc in Humans.

    Science.gov (United States)

    Kwon, Deug-Nam; Choi, Yun-Jung; Cho, Ssang-Goo; Park, Chankyu; Seo, Han Geuk; Song, Hyuk; Kim, Jin-Hoi

    2015-01-01

    The purpose of this study was to identify the modification/turnover of gene products that are altered in humans due to evolutionary loss of Neu5Gc. CMP-Neu5Ac hydroxylase- (Cmah-) deficient mice show the infiltration of Kupffer cells within liver sinusoids, whereas body and liver weight develop normally. Pathway analysis by use of Illumina MouseRef-8 v2 Expression BeadChip provided evidence that a number of biological pathways, including the glycolysis, gluconeogenesis, TCA cycle, and pentose phosphate pathways, as well as glycogen metabolism-related gene expression, were significantly upregulated in Cmah-null mice. The intracellular glucose supply in Cmah-null mice resulted in mitochondrial dysfunction, oxidative stress, and the advanced glycation end products accumulation that could further induce oxidative stress. Finally, low sirtuin-1 and sirtuin-3 gene expressions due to higher NADH/NAD in Cmah-null mice decreased Foxo-1 and MnSOD gene expression, suggesting that oxidative stress may result in mitochondrial dysfunction in Cmah-null mouse. The present study suggests that mice with CMAH deficiency can be taken as an important model for studying metabolic disorders in humans.

  1. Low intelligence but not attention deficit hyperactivity disorder is associated with resistance to thyroid hormone caused by mutation R316H in the thyroid hormone receptor {beta} gene

    Energy Technology Data Exchange (ETDEWEB)

    Weiss, R.E.; Stein, M.A.; Chyna, B.; Phillips, W.; O`Brien, T.; Gutermuth, L.; Refetoff, S. [Univ. of Chicago, IL (United States); Duck, S.C. [Northwestern Univ. Medical School/Evanston Hospital, Evanston, IL (United States)

    1994-06-01

    Resistance to thyroid hormone (RTH) is a syndrome of reduced responsiveness of tissues to thyroid hormone. The clinical manifestations are variable and 46-50% of children with RTH have attention deficit hyperactivity disorder (ADD). The authors present a new family with RTH (F120) found to have a mutation R316H in the thyroid hormone receptor {beta} (TR{beta}) gene identical for that reported in an unrelated family. Assignment of the mutant allele and haplotyping based on CA repeat polymorphism were done on 16 family members. Semistructured diagnostic interviews and psychometric testing were used to determine the psychiatric diagnosis of 12 family members by examiners blinded to the genotype. Three subjects were identified to have the R316H allele as well as mildly elevated free T{sub 4} index (168 {+-} 12; normal range 77-135) and nonsuppressed TSH (4.1 {+-} 1.7 mU/L). Only 2 of the subjects with RTH were found to have ADD, while one family member homozygous for the wild type TR{beta} and normal thyroid function tests also had ADD. Unaffected family members had higher full scale intelligence quotients ({vert_bar}Q) (93 {+-} 7) than any of the 3 family members with RTH (77 {+-} 5, p = 0.006). These data do not support the genetic linkage of ADD and RTH, but do suggest that RTH is associated with lower IQ scores that may confer a high likelihood of exhibiting ADD symptoms. 20 refs., 2 figs., 2 tabs.

  2. Differences between centric relation and maximum intercuspation as possible cause for development of temporomandibular disorder analyzed with T-scan III.

    Science.gov (United States)

    Lila-Krasniqi, Zana D; Shala, Kujtim Sh; Pustina-Krasniqi, Teuta; Bicaj, Teuta; Dula, Linda J; Guguvčevski, Ljuben

    2015-01-01

    To compare subjects from the group with fixed dentures, the group who present temporomandibular disorders (TMDs) and a control group considering centric relation (CR) and maximum intercuspation (MIC)/habitual occlusion (Hab. Occl.) and to analyze the related variables also compared and analyzed with electronic system T-scan III. A total of 54 subjects were divided into three groups; 17 subjects with fixed dentures, 14 with TMD and 23 controls-selection based on anamnesis-responded to a Fonseca questionnaire and clinical measurements analyzed with electronic system T-scan III. Occlusal force, presented by percentage (automatically by the T-scan electronic system) was analyzed in CR and in MIC. Data were presented as mean ± standard deviation and differences in P 0.05 it was not significant in all three groups. In our study, it was concluded that there are not statistically significant differences between CR and MIC in the group of individuals without any symptom or sign of TMD although there are noticed in the group with TMD and fixed dentures disharmonic relation between the arches with overload of the occlusal force on the one side.

  3. 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

  4. Borderline personality disorder and disability.

    Science.gov (United States)

    Arvig, Tyler J

    2011-04-01

    Assessing functional impairment of individuals with borderline personality disorder is challenging. This article discusses the diagnosis of borderline personality disorder, examines the most common iterations of this disorder in disability claims, explores cases in which borderline personality disorder may cause impairment, and identifies signs of the impairment due to this disorder. Copyright 2011, SLACK Incorporated.

  5. Two novel mutations in the NR5A1 gene as a cause of disorders of sex development in a Pakistani cohort of 46,XY patients.

    Science.gov (United States)

    Hussain, S; Amar, A; Najeeb, M N; Khaliq, S

    2016-06-01

    NR5A1 plays a central role in gonadal development and regulation by transcriptional regulation of key modulators involved in steroidogenesis. Mutations in human NR5A1 are frequently associated with 46,XY disorders of sex development (DSD). We analysed a Pakistani cohort of patients with 46,XY DSD, presenting with variable degrees of gonadal dysgenesis, for NR5A1 mutations. The study identified three mutations (p.Tyr03X, p.Glu07X and p.Gln299HisfsX386), of which two are novel, in these patients with 46,XY DSD. The mutations, p.Tyr03X and novel p.Glu07X, are located in the coding region of the gene, corresponding to DNA-binding domain of the predicted protein. In silico analysis for the novel homozygous p.Gln299HisfsX386 mutation in ligand-binding domain of NR5A1 revealed subtle changes in overall tertiary conformation which is predicted to affect the normal physiology of this mutant protein. This study reveals two novel mutations with altered NR5A1 protein in twenty patients with 46,XY DSD, highlighting the critical role of NR5A1 protein in gonadal development and differentiation. In conclusion, the current and previous studies suggest that the NR5A1 mutations are present in around 8-15% of patients with 46,XY DSD presenting with gonadal dysgenesis. For the clinical utility of NR5A1 gene mutations, more comprehensive studies with large 46,XY DSD patient series in different populations are suggested. © 2015 Blackwell Verlag GmbH.

  6. Factitious Disorder

    Science.gov (United States)

    ... symptoms) to severe (previously called Munchausen syndrome). The person may make up symptoms or even tamper with medical tests to ... to know if illnesses are real or not. People with factitious disorder make up symptoms or cause illnesses in several ways, such ...

  7. Hoarding disorder

    Science.gov (United States)

    ... ADHD) Prevention Because little is understood about what causes hoarding disorder, there's no known way to prevent it. However, as with many mental health conditions, getting treatment at the first sign of a problem may help prevent hoarding from getting worse. By ...

  8. 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 ...

  9. Causes of secondary headache (image)

    Science.gov (United States)

    Temporomandibular joint, or TMJ, dysfunction, can be a cause of secondary headache. Secondary headaches result from underlying disorders which produce pain as a symptom. The TMJ may become painful and dysfunctional as a result of incorrect alignment ...

  10. A dystonia-like movement disorder with brain and spinal neuronal defects is caused by mutation of the mouse laminin β1 subunit, Lamb1

    Science.gov (United States)

    Liu, Yi Bessie; Tewari, Ambika; Salameh, Johnny; Arystarkhova, Elena; Hampton, Thomas G; Brashear, Allison; Ozelius, Laurie J; Khodakhah, Kamran; Sweadner, Kathleen J

    2015-01-01

    A new mutant mouse (lamb1t) exhibits intermittent dystonic hindlimb movements and postures when awake, and hyperextension when asleep. Experiments showed co-contraction of opposing muscle groups, and indicated that symptoms depended on the interaction of brain and spinal cord. SNP mapping and exome sequencing identified the dominant causative mutation in the Lamb1 gene. Laminins are extracellular matrix proteins, widely expressed but also known to be important in synapse structure and plasticity. In accordance, awake recording in the cerebellum detected abnormal output from a circuit of two Lamb1-expressing neurons, Purkinje cells and their deep cerebellar nucleus targets, during abnormal postures. We propose that dystonia-like symptoms result from lapses in descending inhibition, exposing excess activity in intrinsic spinal circuits that coordinate muscles. The mouse is a new model for testing how dysfunction in the CNS causes specific abnormal movements and postures. DOI: http://dx.doi.org/10.7554/eLife.11102.001 PMID:26705335

  11. Rare disorders can be an underlying cause of cyclic vomiting: Familial Mediterranean fever, Helicobacter pylori gastritis, and cavernous transformation of the portal vein.

    Science.gov (United States)

    Egritaş Gürkan, Ödül; Ünlüsoy Aksu, Aysel; Demirtaş, Zeliha; Dalgıç, Buket

    2015-11-01

    Considering the etiology of cyclic vomiting syndrome (CVS) in childhood, a variety of underlying organic causes has been clearly identified in the literature. The aim of this study was to emphasize that endoscopic evaluation in the first step may help diagnosis and treatment in patients with CVS, unlike the CVS-related "North American Society for Pediatric Gastroenterology, Hepatology and Nutrition" (NASPGHAN) consensus statement in 2008. The medical files of patients with vomiting complaints admitted to our tertiary center between the years 2007 and 2012 were analyzed retrospectively. Patients were identified according to the International Classification of Diseases (ICD) codes at their initial presentation, including vomiting. A total of 815 patients with vomiting complaints were evaluated. Of the 379 patients who presented with vomiting only, 336 patients were already being followed for chronic vomiting. Cyclic vomiting was detected in 31 out of 336 patients. In our series, familial Mediterranean fever (FMF), cavernous transformation of the portal vein, and Helicobacter pylori (HP) gastritis presented with CVS for the first time in the pediatric age group. We emphasize that endoscopic evaluation in patients with CVS should be performed as the first step for appropriate diagnosis and treatment.

  12. Controlled Low-Pressure Blast-Wave Exposure Causes Distinct Behavioral and Morphological Responses Modelling Mild Traumatic Brain Injury, Post-Traumatic Stress Disorder, and Comorbid Mild Traumatic Brain Injury-Post-Traumatic Stress Disorder.

    Science.gov (United States)

    Zuckerman, Amitai; Ram, Omri; Ifergane, Gal; Matar, Michael A; Sagi, Ram; Ostfeld, Ishay; Hoffman, Jay R; Kaplan, Zeev; Sadot, Oren; Cohen, Hagit

    2017-01-01

    The intense focus in the clinical literature on the mental and neurocognitive sequelae of explosive blast-wave exposure, especially when comorbid with post-traumatic stress-related disorders (PTSD) is justified, and warrants the design of translationally valid animal studies to provide valid complementary basic data. We employed a controlled experimental blast-wave paradigm in which unanesthetized animals were exposed to visual, auditory, olfactory, and tactile effects of an explosive blast-wave produced by exploding a thin copper wire. By combining cognitive-behavioral paradigms and ex vivo brain MRI to assess mild traumatic brain injury (mTBI) phenotype with a validated behavioral model for PTSD, complemented by morphological assessments, this study sought to examine our ability to evaluate the biobehavioral effects of low-intensity blast overpressure on rats, in a translationally valid manner. There were no significant differences between blast- and sham-exposed rats on motor coordination and strength, or sensory function. Whereas most male rats exposed to the blast-wave displayed normal behavioral and cognitive responses, 23.6% of the rats displayed a significant retardation of spatial learning acquisition, fulfilling criteria for mTBI-like responses. In addition, 5.4% of the blast-exposed animals displayed an extreme response in the behavioral tasks used to define PTSD-like criteria, whereas 10.9% of the rats developed both long-lasting and progressively worsening behavioral and cognitive "symptoms," suggesting comorbid PTSD-mTBI-like behavioral and cognitive response patterns. Neither group displayed changes on MRI. Exposure to experimental blast-wave elicited distinct behavioral and morphological responses modelling mTBI-like, PTSD-like, and comorbid mTBI-PTSD-like responses. This experimental animal model can be a useful tool for elucidating neurobiological mechanisms underlying the effects of blast-wave-induced mTBI and PTSD and comorbid mTBI-PTSD.

  13. 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…

  14. Borderline personality disorder

    OpenAIRE

    Paris, Joel

    2005-01-01

    BORDERLINE PERSONALITY DISORDER is a chronic psychiatric disorder characterized by marked impulsivity, instability of mood and interpersonal relationships, and suicidal behaviour that can complicate medical care. Identifying this diagnosis is important for treatment planning. Although the cause of borderline personality disorder is uncertain, most patients improve with time. There is an evidence base for treatment using both psychotherapy and psychopharmacology. The clinical challenge centres...

  15. Glucose transporter type 1 deficiency due to SLC2A1 gene mutations--a rare but treatable cause of metabolic epilepsy and extrapyramidal movement disorder; own experience and literature review.

    Science.gov (United States)

    Szczepanik, Elżbieta; Terczyńska, Iwona; Kruk, Małgorzata; Lipiec, Agata; Dudko, Ewa; Tryfon, Jolanta; Jurek, Marta; Hoffman-Zacharska, Dorota

    2015-01-01

    To present the molecular and clinical characteristics of three children with glucose deficiency syndrome, an inborn rare metabolic disease, caused by mutations in the SLC2A1 gene. The investigation was carried out in three children: two girls and one boy showing symptoms of GLUT1 deficiency syndrome (GLUT1-DS). They were referred for SLC2A1 gene analysis. The presence of mutations in all of them was confirmed. Only point mutations were identified, two missenses p.Gly132Ser, p.Arg212Cys and amino acid insertion p.Ser_Val227insValProPro. In two cases the mutations arose de novo, one was heritable of paternal origin. GLUT1-DS shows high clinical variability. It should be suspected in children of any age presenting with single features or a combination of any form of intractable epilepsy with seizures of various types, movement disorders and paroxysmal events, especially triggered by exercise, exertion, or fasting, and any unexplainable neurological deterioration. The basic diagnostic hallmarks of GLUT1-DS are CSF hypoglycorrhachia and lowered CSF/Blood serum glucose ratio. This is why lumbar punction should be considered more frequently than it is in practice being performed nowadays. Antiepileptic drug treatment may be ineffective or even potentially detrimental. Early identification and molecular confirmation of GLUT1-DS is important, because this is a metabolic disorder and patients should as soon as possible primarily be treated with a ketogenic diet.

  16. [Sleep in neurodegenerative disorders].

    Science.gov (United States)

    Happe, S; Mayer, G

    2006-10-01

    Neurodegenerative disorders are a group of heterogeneous, progressive disorders of varying etiology that affect one or more systems. They occur predominantly at older age, during which the structure and amount of sleep undergo changes. Neurodegenerative processes cause structural changes of the sleep/wake generators in the brainstem which result in disorders such as daytime sleepiness, insomnia, sleep-related movement and breathing disturbances, and disorders of the circadian rhythms. Some sleep disorders manifest years before the onset of neurodegenerative disorders and may serve as predictors. Polysomnography shows sleep fragmentation, tonic or phasic movements of the extremities, alteration of respiratory muscles, reduced slow wave sleep, REM sleep absence or without muscle atonia, increased arousal or wake activity, epileptiform EEG activity, and changes in sleep-related breathing. Very frequently, REM sleep behaviour disorder is associated with neurodegenerative disorders. In this overview we present symptoms, pathophysiology, and polysomnographic findings of sleep disorders in prevalent neurodegenerative disorders.

  17. The spreading of disorder.

    Science.gov (United States)

    Keizer, Kees; Lindenberg, Siegwart; Steg, Linda

    2008-12-12

    Imagine that the neighborhood you are living in is covered with graffiti, litter, and unreturned shopping carts. Would this reality cause you to litter more, trespass, or even steal? A thesis known as the broken windows theory suggests that signs of disorderly and petty criminal behavior trigger more disorderly and petty criminal behavior, thus causing the behavior to spread. This may cause neighborhoods to decay and the quality of life of its inhabitants to deteriorate. For a city government, this may be a vital policy issue. But does disorder really spread in neighborhoods? So far there has not been strong empirical support, and it is not clear what constitutes disorder and what may make it spread. We generated hypotheses about the spread of disorder and tested them in six field experiments. We found that, when people observe that others violated a certain social norm or legitimate rule, they are more likely to violate other norms or rules, which causes disorder to spread.

  18. Determinismo biológico e as neurociências no caso do transtorno de déficit de atenção com hiperatividade Biological determinism and neuroscience in the case of attention deficit disorder with hyperactivity

    Directory of Open Access Journals (Sweden)

    Fabiola Stolf Brzozowski

    2012-01-01

    Full Text Available Nosso objetivo é refletir de que forma as neurociências podem ser fortemente reducionistas quando tentam explicar comportamentos somente com base em processos cerebrais, e usamos como exemplo o caso do transtorno de déficit de atenção com hiperatividade (TDAH. O reducionismo ao qual nos referimos, também chamado determinismo biológico ou neurogenético, na questão das neurociências, é o epistemológico, ou seja, aquele que tenta explicar um problema complexo apenas por algumas de suas partes, desconsiderando outros fatores, tais como sociais e culturais. Como o TDAH atualmente é descrito essencialmente como uma doença cerebral, aplicamos um modelo de sequência redutora defeituosa para o determinismo neurogenético proposto por Steven Rose, que inclui: objetivação, aglomeração arbitrária, quantificação improcedente, crença na normalidade estatística, localização ilegítima, causalidade fora de lugar, classificação dicotômica de causas genéticas e ambientais e a confusão de metáfora com homologia. A vida é um fenômeno complexo e está relacionada com aspectos biológicos e sociais. Dessa forma, explicações sobre ela são adequadas somente quando levam em conta esses dois aspectos. Sugerimos, dessa forma, que parte das neurociências utiliza explicações reducionistas para várias condições mentais classificadas como doenças, incluindo o TDAH.Our goal is to reflect how the neurosciences can be strongly reductionist when trying to explain behaviors based solely on brain processes, and use as an example the case of attention deficit disorder with hyperactivity (ADHD. The reductionism to which we refer, also called biological or neurogenetic determinism, the question of neuroscience, is the epistemological, ie one that tries to explain a complex problem for only some of its parts, ignoring other factors such as social and cultural. As ADHD is currently described as essentially a disease of the brain, we applied a

  19. Attenuated variants of Lesch-Nyhan disease.

    NARCIS (Netherlands)

    Jinnah, H.A.; Ceballos-Picot, I.; Torres, R.J.; Visser, J.E.; Schretlen, D.J.; Verdu, A.; Larovere, L.E.; Chen, C.J.; Cossu, A.; Wu, C.H.; Sampat, R.; Chang, S.J.; Kremer, R.D. de; Nyhan, W.; Harris, J.C.; Reich, S.G.; Puig, J.G.

    2010-01-01

    Lesch-Nyhan disease is a neurogenetic disorder caused by deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase. The classic form of the disease is described by a characteristic syndrome that includes overproduction of uric acid, severe generalized dystonia, cognitive disability and

  20. Angelman syndrome in Denmark. birth incidence, genetic findings, and age at diagnosis

    DEFF Research Database (Denmark)

    Mertz, Line Granild Bie; Christensen, Rikke Nøhr; Vogel, Ida

    2013-01-01

    Angelman syndrome (AS) is a neurogenetic disorder caused by loss of expression of the maternal imprinted gene UBE3A on chromosome 15q11.2-q13. Clinical features of AS include severe intellectual disability, a happy disposition, ataxia, mandibular prognatism, and epilepsy. Our objectives were...

  1. Causes for Late onset Alcohol Use Disorder

    DEFF Research Database (Denmark)

    Emiliussen, Jakob; Nielsen, Anette Søgaard; Andersen, Kjeld

    a full read and quality assessment, only eight studies were included in the final review. Results Inherent differences in measurements, methodologies and outcome measures in the studies, made it impossible to do a meta-analysis. Instead, we performed a descriptive assessment of the results from...... not increase the risk for late-onset AUD. However, the data was insufficient to give a reliable quantification of these associations. Discussion A common problem for the studies included (and the ones excluded as well) was the lack of common definitions of late-onset, “stress” and “traumatic life events...

  2. What Causes Pleurisy and Other Pleural Disorders?

    Science.gov (United States)

    ... ih-se) is a condition in which the pleura is inflamed. The pleura is a membrane that consists of two large, ... The fluid helps the two layers of the pleura glide smoothly past each other as you breathe ...

  3. Are degenerative rotator cuff disorders a cause of shoulder pain? Comparison of prevalence of degenerative rotator cuff disease to prevalence of nontraumatic shoulder pain through three systematic and critical reviews.

    Science.gov (United States)

    Vincent, Karl; Leboeuf-Yde, Charlotte; Gagey, Olivier

    2017-05-01

    The role of degeneration is not well understood for rotator cuff pain. If age-related degenerative changes would be the cause of symptoms, degeneration would precede or concur with self-reported pain. We performed 3 systematic literature reviews. Our objectives were to determine the prevalence estimates for rotator cuff partial or complete tears (1) in cadavers and (2) in the general population and (3) to estimate the incidence/prevalence of self-reported nontraumatic shoulder pain in the general population in order to compare their respective age-related profiles. We searched PubMed and ScienceDirect, including 2015, for cadaveric studies and transverse and longitudinal studies of the general population reporting the incidence/prevalence of rotator cuff disorders or nontraumatic shoulder pain, or both, according to age. The review process followed the Preferred Reporting Items for Systematic Reviews and Meta-analyses (PRISMA) guidelines. Results were interpreted visually. We found 6 cadaveric studies, 2 studies from the general population reporting complete tears, and 10 articles on nontraumatic shoulder pain in the general population that met our criteria. The profiles of degeneration vs. pain were very similar in early years. Although degenerative rotators cuff lesions increased gradually after 50 years, the incidence/prevalence of nontraumatic shoulder pain decreased after 65 years. The profile of age-related degenerative rotator cuff disorders fails to correlate systematically with self-reported nontraumatic shoulder pain, particularly in older age; thus, it appears that degeneration should not be considered the primary source of the pain. Physical activity may play an important role in the production of the pain, a theory that warrants further study. Copyright © 2017. Published by Elsevier Inc.

  4. 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.

  5. Handedness: a neurogenetic shift of perspective.

    Science.gov (United States)

    Ocklenburg, Sebastian; Beste, Christian; Güntürkün, Onur

    2013-12-01

    Handedness is the single most studied aspect of human brain asymmetries. For long it has been thought to be a monogenic trait that can produce an asymmetrical shift of cerebral mechanisms, thereby producing right handedness. Nevertheless, a single gene explaining a sufficient amount of phenotypic variance has not been identified. The results of several recent studies using advanced molecular genetic techniques suggest that a multifactorial model taking into account both multiple genetic and environmental factors, as well as their interactions, might be better suited to explain the complex processes underlying the ontogenesis of handedness. In this article, we review the new insights into handedness genetics provided by these studies and discuss, how integrating results from genetic and neuroscientific studies might help us to generate more accurate models of the ontogenesis of handedness. Based on these thoughts, we suggest several candidate gene groups (e.g. genes involved in the formation of the corpus callosum, asymmetrically expressed genes or genes involved in the development of structural left-right asymmetries) whose investigation would help to further understand the complex relation of genes, the brain and handedness. Copyright © 2013 Elsevier Ltd. All rights reserved.

  6. 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.

  7. Jaundice causes

    Science.gov (United States)

    ... is a yellow color in the skin, mucus membranes, or eyes. The yellow color comes from bilirubin, a byproduct of old red blood cells. Jaundice is a sign of other diseases. This article discusses the possible causes of jaundice in children ...

  8. Autism and reactive attachment/disinhibited social engagement disorders: Co-occurrence and differentiation.

    Science.gov (United States)

    Mayes, Susan Dickerson; Calhoun, Susan L; Waschbusch, Daniel A; Baweja, Raman

    2017-10-01

    DSM-5 ( Diagnostic and Statistical Manual of Mental Disorders, 5th edition) Reactive Attachment Disorder (RAD) and Disinhibited Social Engagement Disorder (DSED) are rare disorders sharing social difficulties with autism. The DSM-5 and ICD-10 (International Classification of Diseases, 10th revsion) state that RAD/DSED should not be diagnosed in children with autism. The purpose of our study is to determine whether children can meet criteria for both autism and RAD/DSED and to identify specific symptoms discriminating the disorders. Subjects were 486 children with autism and no RAD/DSED and 20 with RAD/DSED, 4-17 years of age. In total, 13 children with RAD/DSED met criteria for autism. Using the Checklist for Autism Spectrum Disorder (CASD), there was no overlap in total scores between the RAD/DSED with autism group (score range = 15-27) versus the RAD/DSED without autism group (range = 7-10 ). The autism with and without RAD/DSED groups did not differ in CASD scores. Nine of the CASD autism symptoms were found only in the autism with and without RAD/DSED groups. Our study demonstrates that children can meet criteria for both autism and RAD/DSED and that the disorders are easily differentiated by the presence of specific autism symptoms. Autism is a neurogenetic disorder, and RAD/DSED results from severe social-emotional maltreatment. Given the different etiologies, there is no reason why a child cannot have both disorders.

  9. Attention deficit hyperactivity disorder (ADHD)

    Science.gov (United States)

    ... this page: //medlineplus.gov/ency/article/001551.htm Attention deficit hyperactivity disorder To use the sharing features on this page, please enable JavaScript. Attention deficit hyperactivity disorder (ADHD) is a problem caused by the presence ...

  10. Social Anxiety Disorder (Social Phobia)

    Science.gov (United States)

    Social anxiety disorder (social phobia) Overview It's normal to feel nervous in some social situations. For example, going ... feeling of butterflies in your stomach. But in social anxiety disorder, also called social phobia, everyday interactions cause ...

  11. Autism Spectrum Disorder and Fragile X Syndrome

    Science.gov (United States)

    ... only after another family member has been diagnosed. Autism Spectrum Disorder and Fragile X Syndrome Fragile X ... known single gene cause of ASD What Is Autism Spectrum Disorder? Autism spectrum disorder (ASD) is a ...

  12. [Gait disorders due to neurological conditions

    NARCIS (Netherlands)

    Warrenburg, B.P.C. van de; Snijders, A.H.; Munneke, M.; Bloem, B.R.

    2007-01-01

    Gait disorders are seen frequently and often have a neurological cause. The clinical management of patients presenting with a gait disorder is often complicated due to the large number of diseases that can cause a gait disorder and to the difficulties in interpreting a specific gait disorder

  13. Muscle Deoxygenation Causes Muscle Fatigue

    Science.gov (United States)

    Murthy, G.; Hargens, A. R.; Lehman, S.; Rempel, D.

    1999-01-01

    Muscle fatigue is a common musculoskeletal disorder in the work place, and may be a harbinger for more disabling cumulative trauma disorders. Although the cause of fatigue is multifactorial, reduced blood flow and muscle oxygenation may be the primary factor in causing muscle fatigue during low intensity muscle exertion. Muscle fatigue is defined as a reduction in muscle force production, and also occurs among astronauts who are subjected to postural constraints while performing lengthy, repetitive tasks. The objectives of this research are to: 1) develop an objective tool to study the role of decreased muscle oxygenation on muscle force production, and 2) to evaluate muscle fatigue during prolonged glovebox work.

  14. [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.

  15. Intermittent Explosive Disorder

    Science.gov (United States)

    ... Headache Intermittent explosive disorder Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse companies or products. ... a Job Site Map About This Site Twitter Facebook Google YouTube Pinterest Mayo Clinic is a not- ...

  16. Fetal Alcohol Spectrum Disorders

    Science.gov (United States)

    Alcohol can harm your baby at any stage during a pregnancy. That includes the earliest stages, before ... can cause a group of conditions called fetal alcohol spectrum disorders (FASDs). Children who are born with ...

  17. Hearing Disorders and Deafness

    Science.gov (United States)

    ... enough to enjoy talking with friends or family. Hearing disorders make it hard, but not impossible, to ... often be helped. Deafness can keep you from hearing sound at all. What causes hearing loss? Some ...

  18. Amino Acid Metabolism Disorders

    Science.gov (United States)

    ... Affairs issues and advocacy priorities National Network of Perinatal Quality Collaboratives Launch Prematurity research centers What is ... protein can cause serious health problems and, sometimes, death. People with these kinds of disorders may need ...

  19. Kids and Eating Disorders

    Science.gov (United States)

    ... What's in this article? Dangerous Habits What Is Anorexia? What Is Bulimia? What Causes Eating Disorders? Can Somebody Catch an ... and have constant stomach pain. Like girls with anorexia, girls with bulimia also may stop menstruating. In addition to the ...

  20. Child Behavior Disorders

    Science.gov (United States)

    ... misbehave some times. And some may have temporary behavior problems due to stress. For example, the birth ... family may cause a child to act out. Behavior disorders are more serious. They involve a pattern ...

  1. Borderline Personality Disorder

    Science.gov (United States)

    ... jail time Conflict-filled relationships, marital stress or divorce Self-injury, such as cutting or burning, and ... stigma of mental illness Borderline personality disorder Symptoms & causes Diagnosis & treatment Advertisement Mayo Clinic does not endorse ...

  2. Cardiomyopathy in neurological disorders.

    Science.gov (United States)

    Finsterer, Josef; Stöllberger, Claudia; Wahbi, Karim

    2013-01-01

    According to the American Heart Association, cardiomyopathies are classified as primary (solely or predominantly confined to heart muscle), secondary (those showing pathological myocardial involvement as part of a neuromuscular disorder) and those in which cardiomyopathy is the first/predominant manifestation of a neuromuscular disorder. Cardiomyopathies may be further classified as hypertrophic cardiomyopathy, dilated cardiomyopathy, restrictive cardiomyopathy, arrhythmogenic right ventricular cardiomyopathy, or unclassified cardiomyopathy (noncompaction, Takotsubo-cardiomyopathy). This review focuses on secondary cardiomyopathies and those in which cardiomyopathy is the predominant manifestation of a myopathy. Any of them may cause neurological disease, and any of them may be a manifestation of a neurological disorder. Neurological disease most frequently caused by cardiomyopathies is ischemic stroke, followed by transitory ischemic attack, syncope, or vertigo. Neurological disease, which most frequently manifests with cardiomyopathies are the neuromuscular disorders. Most commonly associated with cardiomyopathies are muscular dystrophies, myofibrillar myopathies, congenital myopathies and metabolic myopathies. Management of neurological disease caused by cardiomyopathies is not at variance from the same neurological disorders due to other causes. Management of secondary cardiomyopathies is not different from that of cardiomyopathies due to other causes either. Patients with neuromuscular disorders require early cardiologic investigations and close follow-ups, patients with cardiomyopathies require neurological investigation and avoidance of muscle toxic medication if a neuromuscular disorder is diagnosed. Which patients with cardiomyopathy profit most from primary stroke prevention is unsolved and requires further investigations. Copyright © 2013 Elsevier Inc. All rights reserved.

  3. Does Excessive Pronation Cause Pain?

    DEFF Research Database (Denmark)

    Mølgaard, Carsten Møller; Olesen Gammelgaard, Christian; Nielsen, R. G.

    2008-01-01

    Excessive pronation could be an inborn abnormality or an acquired foot disorder caused by overuse, inadequate supported shoes or inadequate foot training. When the muscles and ligaments of the foot are insufficient it can cause an excessive pronation of the foot. The current treatment consist of ...... pronation patients recieve antipronation training often if the patient is in pain but wanted to investigate if it was possible to measure a change in foot posture after af given treatment....

  4. Pain Disorder

    Directory of Open Access Journals (Sweden)

    Carlos Capela

    2014-06-01

    Full Text Available Pain disorder is a psychiatric disorder diagnosed when the pain becomes the predominant focus of the clinical presentation and causes significant distress or impairment. Besides the high economic impact, there is a reciprocal relationship with the affective state. Pain is a subjective sensation and its severity and quality of experience in an individual is dependent on a complex mix of factors. In the treatment of acute pain, the primary purpose is pain relief, while chronic pain typically requires a combination of psychotropic drugs. In this context, it is also important to recognize and treat depression. Psychological treatments aimed at providing mechanisms to allow patients to "control and live with the pain" rather than aspire to eliminate it completely. A growing group of researchers proposes the elimination of the chapter of Somatoform Disorders and the modification of the category "psychological factors affecting a medical condition" to "psychological factors affecting an identified or feared medical condition" with clinical entities as ubchapters, largely based upon Diagnostics for Psychosomatic Research criteria.

  5. Neuronal substrate of eating disorders

    OpenAIRE

    Timofeeva, Elena; Calvez, Juliane

    2014-01-01

    Eating disorders are devastating and life-threatening psychiatric diseases. Although clinical and experimental investigations have significantly progressed in discovering the neuronal causes of eating disorders, the exact neuronal and molecular mechanisms of the development and maintenance of these pathologies are not fully understood. The complexity of the neuronal substrate of eating disorders hampers progress in revealing the precise mechanisms. The present re...

  6. Cultural trends and eating disorders

    NARCIS (Netherlands)

    Pike, Kathleen M.; Hoek, Hans W.; Dunne, Patricia E.

    2014-01-01

    Purpose of review Culture has long been recognized as significant to the cause and expression of eating disorders. We reviewed the recent literature about recent trends in the occurrence of eating disorders in different cultures. Recent findings While historically, eating disorders were

  7. Autism Spectrum Disorders May Be Due to Cerebral Toxoplasmosis Associated with Chronic Neuroinflammation Causing Persistent Hypercytokinemia that Resulted in an Increased Lipid Peroxidation, Oxidative Stress, and Depressed Metabolism of Endogenous and Exogenous Substances

    Science.gov (United States)

    Prandota, Joseph

    2010-01-01

    Worldwide, approximately 2 billion people are chronically infected with "Toxoplasma gondii" with largely yet unknown consequences. Patients with autism spectrum disorders (ASD) similarly as mice with chronic toxoplasmosis have persistent neuroinflammation, hypercytokinemia with hypermetabolism associated with enhanced lipid peroxidation, and…

  8. Temporomandibular disorders: evaluation and management.

    Science.gov (United States)

    De Rossi, Scott S; Greenberg, Martin S; Liu, Frederick; Steinkeler, Andrew

    2014-11-01

    Temporomandibular disorders remain a common cause of visits to primary care physicians, internists, pediatricians, and emergency departments. Advances in the clinical diagnosis, radiographic imaging, and classification of these disorders have improved long-term management. There are several types of disorders of the masticatory muscles and the temporomandibular joint as well as associated structures and each may have a complex cause, clinical course, and response to therapy. Host susceptibility plays a role at several stages of these disorders. Future research offers greater possibility in defining this heterogeneous group of disorders and providing more focused and effective treatment strategies. Copyright © 2014 Elsevier Inc. All rights reserved.

  9. ADHD Diet: Do Food Additives Cause Hyperactivity?

    Science.gov (United States)

    ... say about the relationship between food additives and ADHD? Answers from David C. Agerter, M.D Food ... There's no solid evidence that food additives cause attention-deficit/hyperactivity disorder (ADHD). However, the topic of food additives and ...

  10. Megaloblastic Anemias: Nutritional and Other Causes.

    Science.gov (United States)

    Green, Ralph; Datta Mitra, Ananya

    2017-03-01

    Vitamin B 12 and folate deficiencies are major causes of megaloblastic anemia. Causes of B 12 deficiency include pernicious anemia, gastric surgery, intestinal disorders, dietary deficiency, and inherited disorders of B 12 transport or absorption. The prevalence of folate deficiency has decreased because of folate fortification, but deficiency still occurs from malabsorption and increased demand. Other causes include drugs and inborn metabolic errors. Clinical features of megaloblastic anemia include anemia, cytopenias, jaundice, and megaloblastic marrow morphology. Neurologic symptoms occur in B 12 deficiency, but not in folate deficiency. Management includes identifying any deficiency, establishing its cause, and replenishing B 12 or folate parenterally or orally. Copyright © 2016 Elsevier Inc. All rights reserved.

  11. Developmental Disorders in Children – Importance of Parent Training Interventions

    OpenAIRE

    Beena Johnson

    2018-01-01

    Childhood developmental disorders cause significant negative impact on the physical, intellectual and social-emotional development of an individual. Developmental disorders are common in pediatric practice and these children are more likely to have comorbid behavioral disorders than their typically developing counterparts. They are also at greater risk for academic stress due to scholastic backwardness. Intellectual developmental disorders, communication disorders, autism spectrum disorder an...

  12. Pre-harvest muskmelon fruit cracking: causes and potential remedies

    Science.gov (United States)

    Fruit cracking is a serious disorder that causes a major loss of marketable yield and revenue in the muskmelon (Cucumis melo L.) fruit industry. The physiological and environmental factors causing cracking are poorly understood. Although generally considered a physiological disorder caused by fluctu...

  13. Foods That May Cause Gas

    Science.gov (United States)

    ... Upper GI Disorders Lower GI Disorders Other Disorders Kids & Teens Manage Your Health Finding a Doctor The Digestive ... Upper GI Disorders Lower GI Disorders Other Disorders Kids & Teens Manage Your Health Finding a Doctor The Digestive ...

  14. Prevalence of epilepsy and seizure disorders as causes of apparent life- threatening event (ALTE) in children admitted to a tertiary hospital Prevalência de epilepsia e crises epilépticas como causa de eventos com aparente risco de vida (ALTE) em crianças internadas em hospital terciário

    OpenAIRE

    Alessandra Marques dos Anjos; Magda Lahorgue Nunes

    2009-01-01

    OBJECTIVE: To determine the prevalence and describe clinical characteristics of seizure disorders and epilepsy as causes of apparent life- threatening event (ALTE) in children admitted at the emergency and followed in a tertiary hospital. METHOD: Cross-sectional study with prospective data collection using specific guidelines to determine the etiology of ALTE. RESULTS: During the study, 30 (4.2%) children admitted to the hospital had a diagnosis of ALTE. There was a predominance of males (73%...

  15. Mood Disorders

    Science.gov (United States)

    ... they're in a bad mood. A mood disorder is different. It affects a person's everyday emotional ... ten people aged 18 and older have mood disorders. These include depression and bipolar disorder (also called ...

  16. Eating Disorders

    Science.gov (United States)

    ... Obsessive-Compulsive Disorder (OCD) The Deal With Diets Body Dysmorphic Disorder Compulsive Exercise Emotional Eating Binge Eating Disorder Female Athlete Triad Body Image and Self-Esteem Anemia I Think My ...

  17. Dissociative Disorders

    Science.gov (United States)

    ... actions and identity. People with dissociative disorders escape reality in ways that are involuntary and unhealthy and ... conditions. Complications People with dissociative disorders are at increased risk of complications and associated disorders, such as: ...

  18. Childhood developmental disorders: an academic and clinical convergence point for psychiatry, neurology, psychology and pediatrics.

    Science.gov (United States)

    Reiss, Allan L

    2009-01-01

    Significant advances in understanding brain development and behavior have not been accompanied by revisions of traditional academic structure. Disciplinary isolation and a lack of meaningful interdisciplinary opportunities are persistent barriers in academic medicine. To enhance clinical practice, research, and training for the next generation, academic centers will need to take bold steps that challenge traditional departmental boundaries. Such change is not only desirable but, in fact, necessary to bring about a truly innovative and more effective approach to treating disorders of the developing brain. I focus on developmental disorders as a convergence point for transcending traditional academic boundaries. First, the current taxonomy of developmental disorders is described with emphasis on how current diagnostic systems inadvertently hinder research progress. Second, I describe the clinical features of autism, a phenomenologically defined condition, and Rett and fragile X syndromes, neurogenetic diseases that are risk factors for autism. Finally, I describe how the fields of psychiatry, psychology, neurology, and pediatrics now have an unprecedented opportunity to promote an interdisciplinary approach to training, research, and clinical practice and, thus, advance a deeper understanding of developmental disorders. Research focused on autism is increasingly demonstrating the heterogeneity of individuals diagnosed by DSM criteria. This heterogeneity hinders the ability of investigators to replicate research results as well as progress towards more effective, etiology-specific interventions. In contrast, fragile X and Rett syndromes are 'real' diseases for which advances in research are rapidly accelerating towards more disease-specific human treatment trials. A major paradigm shift is required to improve our ability to diagnose and treat individuals with developmental disorders. This paradigm shift must take place at all levels - training, research and clinical

  19. Increased mortality among patients admitted with major psychiatric disorders: a register-based study comparing mortality in unipolar depressive disorder, bipolar affective disorder, schizoaffective disorder, and schizophrenia

    DEFF Research Database (Denmark)

    Laursen, Thomas Munk; Munk-Olsen, Trine; Nordentoft, Merete

    2007-01-01

    disorder has never been examined in a population-based study. OBJECTIVE: Our objective was to examine and compare mortality rates after admission with schizophrenia, schizoaffective disorder, unipolar depressive disorder, or bipolar affective disorder and to examine the impact of family history......: Unipolar depressive disorder, bipolar affective disorder, and schizoaffective disorder were associated with the same pattern of excess mortality. Schizophrenia had a lower mortality from unnatural causes of death and a higher mortality from natural causes compared to the 3 other disorders. Family history......CONTEXT: Persons suffering from severe mental disorder have an excess mortality compared to persons with no mental disorder. However, the magnitude of the excess mortality differs from one mental disorder to another, and the impact on mortality if a first-degree family member suffers from a mental...

  20. Mood and affect disorders.

    Science.gov (United States)

    Tang, Michael H; Pinsky, Elizabeth G

    2015-02-01

    Depressive disorders are common in children and adolescents, with estimates for depressive episodes as high as 18.2% for girls and 7.7% for boys by age 17 years, and are a major cause of morbidity and even mortality. The primary care pediatrician should be able to (1) diagnose depressive disorders and use standardized instruments; (2) ask about suicide, self-harm, homicide, substance use, mania, and psychosis; (3) triage the severity of illness; (4) be aware of the differential diagnosis, including normal development, other depressive disorders, bipolar disorders, and comorbid disorders, such as anxiety and substance use; (5) refer to evidenced-based psychotherapies; (6) prescribe first-line medications; and (7) provide ongoing coordination in a medical home. Pediatric bipolar disorders and the new disruptive mood dysregulation disorder (DMDD) diagnoses are controversial but not uncommon, with prevalence estimates ranging from 0.8% to 4.3% in children at various ages. Although the pediatrician is not likely to be prescribing medications for children with bipolar disorder and DMDD diagnoses, all clinicians should be familiar with common neuroleptics and other mood stabilizers, including important potential adverse effects. Basic management of depressive and bipolar disorders is an important skill for primary care pediatricians. © American Academy of Pediatrics, 2015. All rights reserved.

  1. AUTISM SPECTRUM DISORDERS (ASD)

    OpenAIRE

    Middha Akanksha; Kataria Sahil; Sandhu Premjeet; Kapoor Bhawna

    2011-01-01

    Autism or Autism Spectrum Disorders (ASD) is a serious neurological disorder affecting communication skills, social interactions, adaptability in an individual, and also causes dramatic changes in behavioral patterns. This condition typically lasts throughout one’s lifetime and affects both, children as well as adults. Research has shown a tenfold increase in autism cases over the past decade and still rising at an alarming pace. The origins of autism are not known even to modern science. Aut...

  2. Causes of Hypersomnia – Narcolepsy

    Directory of Open Access Journals (Sweden)

    M V Padma Srivastav

    2014-03-01

    Full Text Available The causes of hypersomnia or excessive daytime sleepiness (EDS besides volitionalsleep deprivation and obstructive sleep apnea are principally due to primary centralnervous system abnormalities. Most common amongst these is Narcolepsy, a primarydisorder of the neural control of wakefulness and sleep. The recent discovery ofhypocretin/orexin deficiency as the main cause of narcolepsy will lead to importanttherapeutic advances for patients with narcolepsy and further to understanding of thecontrol of sleep and wakefulness in general. Importantly, the excessive daytimesleepiness is not due to psychiatric conditions, but rather is always due to sleepdeprivation or an underlying diagnosable and treatable sleep disorder.Key words : EDS, Sleep, Narcolepsy

  3. Does Excessive Pronation Cause Pain?

    DEFF Research Database (Denmark)

    Olesen, Christian Gammelgaard; Nielsen, RG; Rathleff, M

    Excessive pronation could be an inborn abnormality or an acquired foot disorder caused by overuse, inadequate supported shoes or inadequate foot training. When the muscles and ligaments of the foot are insufficient it can cause an excessive pronation of the foot. The current treatment consist...... of antipronation shoes or insoles, which latest was studied by Kulce DG., et al (2007). So far there have been no randomized controlled studies showing methods that can measure the effect of treatments with insoles. Some of the excessive pronation patients recieve antipronation training often if the patient...

  4. Angelman syndrome: current understanding and research prospects

    National Research Council Canada - National Science Library

    Dan, Bernard

    2009-01-01

    Angelman syndrome is a neurogenetic disorder characterized by developmental delay, severe intellectual disability, absent speech, exuberant behavior with happy demeanor, motor impairment, and epilepsy...

  5. [Antisocial personality disorder].

    Science.gov (United States)

    Repo-Tiihonen, Eila; Hallikainen, Tero

    2016-01-01

    Antisocial personality disorder (ASP), especially psychopathy as its extreme form, has provoked fear and excitement over thousands of years. Ruthless violence involved in the disorder has inspired scientists, too.The abundance of research results concerning epidemiology, physiology, neuroanatomy, heritability, and treatment interventions has made ASP one of the best documented disorders in psychiatry. Numerous interventions have been tested, but there is no current treatment algorithm. Biological and sociological parameters indicate the importance of early targeted interventions among the high risk children. Otherwise, as adults they cause the greatest harm. The use of medications or psychotherapy for adults needs careful consideration.

  6. Autism Spectrum Disorder (ASD): Related Topics

    Science.gov (United States)

    ... Facebook Tweet Share Compartir Q: Do vaccines cause autism spectrum disorder (ASD)? A: Many studies that have ... whether there is a relationship between vaccines and autism spectrum disorder (ASD). To date, the studies continue ...

  7. 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,

  8. CASE REPORT Extramedullary haematopoiesis causing spinal cord ...

    African Journals Online (AJOL)

    Extramedullary haematopoiesis (EMH) is a rare cause of spinal cord compression. When a patient with a haematological disorder that causes chronic anaemia (particularly thalassaemia) presents with neurological deficits referable to the spine, EMH with paraspinal masses should be considered and imaging planned ...

  9. Systemic causes of heavy menstrual bleeding

    NARCIS (Netherlands)

    Verschueren, Sophie

    2017-01-01

    Heavy menstrual bleeding (HMB) is a common problem in fertile women. In addition to local factors, such as a polyp or a uterine fibroid, systemic causes may lead to HMB. These systemic causes are discussed in this thesis. For years, women with HMB were tested underlying thyroid disorder, but our

  10. [Somatization disorder - an overdiagnosed but underestimated illness].

    Science.gov (United States)

    Karvonen, Juha T; Läksy, Kristian; Räsänen, Sami

    2016-01-01

    Physical symptoms often occur in the absence of physical illness. This is termed somatization when the symptoms are caused by psychic factors. When abundant symptoms affect the functional capacity and cause subjective harm and seeking healthcare services, a psychic disorder may be in question. Somatization may be associated with numerous psychic disorders. It may, however, also be a question of a somatoform disorder having a physical symptom picture. Somatization disorder is one of the somatoform disorders. Recognition of the disorder is often the problem in its treatment. Establishing a long-term treatment relationship actually forms the basis for therapy.

  11. Defective protein kinase A and C pathways are common causes of disordered zona pellucida (ZP)--induced acrosome reaction in normozoospermic infertile men with normal sperm-ZP binding.

    Science.gov (United States)

    Liu, De-Yi; Liu, Ming-Li; Baker, H W Gordon

    2013-01-01

    To determine association between defective protein kinases C (PKC) and A (PKA) and disordered zona pellucida (ZP)-induced acrosome reaction (DZPIAR) in normozoospermic infertile men with normal sperm-ZP binding. Sperm from DZPIAR infertile men were treated without (control) or with (test) phorbol myristate acetate (PMA, PKC activator) or dibutyryl cyclic AMP (dbcAMP, PKA activator) under in vitro standard culture condition. The ZP-induced AR was assessed and compared between control and test. Public and private hospital-based clinical assisted reproduction technology (ART) centers. A total of 51 DZPIAR infertile men were involved in this study. None. Sperm-ZP binding and the ZP-induced IAR. Both PMA and dbcAMP enhanced ZP-induced AR up to a normal level (≥25%) in some subjects with DZPIAR: 29 (57%) with PMA and 27 (53%) with dbcAMP. Overall 35 (69%) had the ZP-induced AR enhanced to normal by PMA or dbcAMP but 16 (31%) had little or no response to either agent. Fourteen men responded to the two activators differently: 8 effective only with PMA and 6 effective only with dbcAMP. Defective upstream of PKC and PKA pathways are highly associated with disordered ZPIAR in normozoospermic infertile men with normal sperm-ZP binding. Copyright © 2013 American Society for Reproductive Medicine. Published by Elsevier Inc. All rights reserved.

  12. Utilization patterns of conventional and complementary/alternative treatments in children with autism spectrum disorders and developmental disabilities in a population-based study.

    Science.gov (United States)

    Akins, Roger S; Krakowiak, Paula; Angkustsiri, Kathleen; Hertz-Picciotto, Irva; Hansen, Robin L

    2014-01-01

    To compare the utilization of conventional treatments and utilization of complementary and alternative medicine in preschoolers with autism spectrum disorders (ASD) and other developmental disabilities (DD). Participants were 578 children who were part of an ongoing population-based, case-control study of 2- to 5-year olds with ASD, DD, and the general population. Parents completed an interview on past and current services. Four hundred fifty-three children with ASD and 125 DD children were included. ASD families received more hours of conventional services compared with DD families (17.8 vs 11; p ASD (39%) versus DD (30%). Hispanic families in both groups used CAM less often than non-Hispanic families. Variables such as level of function, immunization status, and the presence of an identified neurogenetic disorder were not predictive of CAM use. A higher level of parental education was associated with an increased CAM use in ASD and DD. Families who used >20 hours per week of conventional services were more likely to use CAM, including potentially unsafe or disproven CAM. Underimmunized children were marginally more likely to use CAM but not more likely to have received potentially unsafe or disproven CAM. Use of CAM is common in families of young children with neurodevelopmental disorders, and it is predicted by higher parental education and non-Hispanic ethnicity but not developmental characteristics. Further research should address how health care providers can support families in making decisions about CAM use.

  13. Do Allergies Cause Asthma?

    Science.gov (United States)

    ... Voice in Health Care Decisions Do Allergies Cause Asthma? KidsHealth > For Parents > Do Allergies Cause Asthma? Print ... son la causa del asma? Do Allergies Cause Asthma? Allergies don't cause asthma. But kids who ...

  14. Tic disorders and obsessive-compulsive disorder : Is autoimmunity involved?

    NARCIS (Netherlands)

    Hoekstra, PJ; Minderaa, RB

    The precise cause of tic disorders and paediatric obsessive-compulsive disorder (OCD) is unknown. In addition to genetic factors, autoimmunity may play a role, possibly as a sequela of preceding streptococcal throat infections in susceptible children. Here we review the most recent findings, from

  15. The forgotten cause of stridor in the emergency department

    Directory of Open Access Journals (Sweden)

    Ng TT

    2017-01-01

    Full Text Available Tian-Tee Ng Ear, Nose and Throat Unit, Department of Surgery, Frankston Hospital, Peninsula Health, Frankston, VIC, Australia Abstract: Paradoxical Vocal Fold Movement Disorder is where the larynx exhibits paradoxical vocal cords closure during respiration, creating partial airway obstruction. Causes of vocal fold movement disorder are multifactorial, and patients describe tightness of throat, difficulty getting air in, have stridor, and do not respond to inhalers. We propose using transnasal laryngoscopy examination, which will show narrowing of vocal cords on inspiration, and The Pittsburgh Vocal Cord Dysfunction Index with a cutoff score of ≥4 to distinguish vocal fold movement disorder from asthma and other causes of stridor. Management of paradoxical vocal fold movement disorder involves a combination of pharmacological, psychological, psychiatric, and speech training. Paradoxical vocal fold movement disorder is a very treatable cause of stridor, so long as it is identified and other organic causes are excluded. Keywords: paradoxical vocal fold movement disorder, stridor, emergency

  16. Skeletal Muscle Na+ Channel Disorders

    OpenAIRE

    Dina eSimkin; Saïd eBendahhou

    2011-01-01

    Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Nav1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe cases. As new human sodium channel mutations corresponding to disease states become discovered, the impo...

  17. Bleeding Disorders

    Science.gov (United States)

    ... as clotting factors. If you have a bleeding disorder, you either do not have enough platelets or ... don't work the way they should. Bleeding disorders can be the result of other diseases, such ...

  18. Personality Disorders

    Science.gov (United States)

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

  19. Eating Disorders

    Science.gov (United States)

    Eating disorders are serious behavior problems. They can include severe overeating or not consuming enough food to ... concern about your shape or weight. Types of eating disorders include Anorexia nervosa, in which you become ...

  20. Growth Disorders

    Science.gov (United States)

    ... because their parents are. But some children have growth disorders. Growth disorders are problems that prevent children from developing ... or other features. Very slow or very fast growth can sometimes signal a gland problem or disease. ...

  1. Metabolic Disorders

    Science.gov (United States)

    ... as your liver, muscles, and body fat. A metabolic disorder occurs when abnormal chemical reactions in your ... that produce the energy. You can develop a metabolic disorder when some organs, such as your liver ...

  2. Eosinophilic Disorders

    Science.gov (United States)

    ... Summer Camp Tips for Kids With Asthma, Allergies Antioxidants: The Good Health Helpers As Stroke 'Liquefies' Brain ... Mouth and Dental Disorders Older People’s Health Issues Skin Disorders Special Subjects Women's Health Issues Symptoms ALL ...

  3. 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 ...

  4. Panic Disorder

    Science.gov (United States)

    ... of different phobias, including fear of crowds, bridges, snakes, spiders, heights, open places or social embarrassment.A ... of Mental HealthAnxiety Disorders Association of AmericaAnxiety Disorders Education Program Last Updated: April 2014 This article was ...

  5. Premenstrual syndrome and premenstrual dysphoric disorder

    National Research Council Canada - National Science Library

    Biggs, Wendy S; Demuth, Robin H

    2011-01-01

    .... It affects 20 to 32 percent of premenopausal women. Women with premenstrual dysphoric disorder experience affective or somatic symptoms that cause severe dysfunction in social or occupational realms...

  6. Metabolic, Immune, Epigenetic, Endocrine and Phenotypic Abnormalities Found in Individuals with Autism Spectrum Disorders, Down Syndrome and Alzheimer Disease May Be Caused by Congenital and/or Acquired Chronic Cerebral Toxoplasmosis

    Science.gov (United States)

    Prandota, Joseph

    2011-01-01

    "Toxoplasma gondii" is a protozoan parasite that infects about a third of human population. It is generally believed that in immunocompetent hosts, the parasite infection takes usually asymptomatic course and induces self-limiting disease, but in immunocompromised individuals may cause significant morbidity and mortality. "T. gondii" uses sulfated…

  7. Specific Developmental Disorders of Scholastic Skills

    Directory of Open Access Journals (Sweden)

    Beena Johnson

    2015-07-01

    Full Text Available Several factors contribute to scholastic backwardness in children. Causes include specific developmental disorders of scholastic skills, low intelligence, chronic illnesses, family dysfunction, social problems, attention deficits, and emotional disorders. Children with specific developmental disorders of scholastic skills experience significant impairment in the acquisition of reading, writing and mathematical skills. If not remedied at the earliest, these children are at risk of developing severe stress related disorders. There is high comorbidity of behaviour disorders and emotional disorders in these children. Hence early intensive remedial education is essential in the management of children with specific developmental disorders of scholastic skills.

  8. Coagulation disorders in intensive care

    NARCIS (Netherlands)

    Levi, Marcel

    2009-01-01

    Coagulation disorders are common in intensive care patients and may range from isolated thrombocytopenia or prolonged clotting times to disseminated intravascular coagulation. There are many causes of disturbed coagulation in critically ill patients and each may require specific treatment

  9. Social Anxiety Disorder (Social Phobia)

    Science.gov (United States)

    ... fear response, causing increased anxiety in social situations. Environment. Social anxiety disorder may be a learned behavior — ... harder to treat if you wait. Keep a journal. Keeping track of your personal life can help ...

  10. Biochemical diagnosis of mitochondrial disorders

    NARCIS (Netherlands)

    Rodenburg, R.J.T.

    2011-01-01

    Establishing a diagnosis in patients with a suspected mitochondrial disorder is often a challenge. Both knowledge of the clinical spectrum of mitochondrial disorders and the number of identified disease-causing molecular genetic defects are continuously expanding. The diagnostic examination of

  11. Panic disorder.

    OpenAIRE

    Marks, I

    1983-01-01

    Panic disorder (PD) is a prevalent anxiety disorder with lifetimeprevalence rates ranging from 1.1% to 3.7% in the general populationand 3.0% to 8.3% in clinic settings.[1]The presence of agoraphobia inpatients with PD is associated with substantial severity, comorbidity(e.g. major depression, other anxiety disorders, alcohol abuse) andfunctional impairment.[1

  12. Anxiety Disorders

    Science.gov (United States)

    ... School Counselors Kidney Stones Brain and Nervous System Anxiety Disorders KidsHealth > For Teens > Anxiety Disorders Print A A A What's in this ... affect people of all ages — adults, children, and teens. There are many different types of anxiety disorders, with different symptoms. They all have one ...

  13. [Voice disorders in childhood].

    Science.gov (United States)

    Schneider-Stickler, B

    2012-07-01

    Voice disorders in the pediatric population are relatively common. The education of families, teachers and clinical staff on etiology and treatment of pediatric voice disorders have led to greater attention being paid to hoarseness in childhood and improving early detection of pediatric voice disorders. Pediatric voice problems can have a number of causes. Most commonly, childhood dysphonia is caused by vocal fold nodules due vocal ab- and misuse. Other reasons might be congenital laryngeal dysplasia, vocal fold cysts and laryngeal papilloma. Medical examination is necessary in order to initiate appropriate treatment. In the case of vocal fold cysts and laryngeal papilloma, phonosurgery is indicated. Vocal fold nodules should be treated by voice therapy in order to change vocal behaviour. If voice therapy fails, phonosurgical intervention is recommended, since vocal fold nodules can persist into adulthood with a negative impact on voice quality.

  14. [Prevention of psychic disorders].

    Science.gov (United States)

    Siepmann, M

    2012-06-01

    Prevention aims to avoid the occurrence of psychiatric illness and disability caused by psychic disorders. The relevant interventions refer to the individual, the family context and other environmental factors. Universal and primary prevention target the entire population or a part of this (i. e. students). Secondary and selective intervention should prevent the manifestation of psychiatric disorders in vulnerable individuals (i. e. children with behavioral problems). Tertiary measures aim at preventing the worsening or recurrence of symptoms in individuals who already suffer from mental illness. Within the past 25 years protective and risk factors that reduce or increase the probability of occurrence of mental disorders have increasingly been identified. This results in improved prevention. The present article gives an overview of preventive measures against the most common mental disorders in the light of the current evidence base. © Georg Thieme Verlag KG Stuttgart · New York.

  15. Adolescent Sleepiness: Causes and Consequences.

    Science.gov (United States)

    Hansen, Shana L; Capener, Dale; Daly, Christopher

    2017-09-01

    Insufficient sleep duration and poor sleep quality are common among adolescents. The multidimensional causes of insufficient sleep duration and poor sleep quality include biological, health-related, environmental, and lifestyle factors. The most common direct consequence of insufficient and/or poor sleep quality is excessive daytime sleepiness, which may contribute to poor academic performance, behavioral health problems, substance use, and drowsy driving. Evaluation of sleepiness includes a detailed sleep history and sleep diary, with polysomnography only required for the assessment of specific sleep disorders. Management involves encouraging healthy sleep practices such as having consistent bed and wake times, limiting caffeine and electronics at night before bed, and eliminating napping, in addition to treating any existing sleep or medical disorders. [Pediatr Ann. 2017;46(9):e340-e344.]. Copyright 2017, SLACK Incorporated.

  16. Autism Spectrum Disorder

    Centers for Disease Control (CDC) Podcasts

    2014-04-02

    This podcast discusses autism spectrum disorder (ASD), a developmental disability that causes problems with social, communication, and behavioral skills. CDC estimates that one in 68 children has been identified as having ASD.  Created: 4/2/2014 by National Center on Birth Defects and Developmental Disabilities (NCBDDD).   Date Released: 4/2/2014.

  17. The Spreading of Disorder

    NARCIS (Netherlands)

    Keizer, Kees; Lindenberg, Siegwart; Steg, Linda

    2008-01-01

    Imagine that the neighborhood you are living in is covered with graffiti, litter, and unreturned shopping carts. Would this reality cause you to litter more, trespass, or even steal? A thesis known as the broken windows theory suggests that signs of disorderly and petty criminal behavior trigger

  18. Managing the somatoform disorders

    African Journals Online (AJOL)

    Repro

    The somatoform disorders are charac- terised by the presence of physical symp- toms in the absence of a diagnosable medical illness to account fully for them. The symptoms are presumed to be psy- chologically based, outside the patient's conscious control, and should be severe enough to cause significant distress, or.

  19. Drug-induced nail disorders.

    Science.gov (United States)

    2014-07-01

    Nail disorders are defined according to their appearance and the part of the nail affected: the nail plate, the tissues that support or hold the nail plate in place, or the lunula. The consequences of most nail disorders are purely cosmetic. Other disorders, such as ingrown nails, inflammation, erythema, abscesses or tumours, cause functional impairment or pain. The appearance of the lesions is rarely indicative of their cause. Possible causes include physiological changes, local disorders or trauma, systemic conditions, toxic substances and drugs. Most drug-induced nail disorders resolve after discontinuation of the drug, although complete resolution sometimes takes several years. Drugs appear to induce nail disorders through a variety of mechanisms. Some drugs affect the nail matrix epithelium, the nail bed or the nail folds. Some alter nail colour. Other drugs induce photosensitivity. Yet others affect the blood supply to the nail unit. Nail abnormalities are common during treatment with certain cytotoxic drugs: taxanes, anthracyclines, fluorouracil, EGFR, tyrosine kinase inhibitors, etc. Some drugs are associated with a risk of serious and painful lesions, such as abscesses. When these disorders affect quality of life, the benefits of withdrawing the drug must be weighed against the severity of the condition being treated and the drug's efficacy, taking into account the harm-benefit balance of other options. Various anti-infective drugs, including tetracyclines, quinolones, clofazimine and zidovudine, cause the nail plate to detach from the nail bed after exposure to light, or cause nail discoloration. Psoralens and retinoids can also have the same effects.

  20. PURA-related neurodevelopmental disorders

    OpenAIRE

    Reijnders, Margot R F; Leventer, Richard J; Lee, Boo Hon; Baralle, Diana; Selber, Paulo; Paciorkowski, Alex R; Hunt, David

    2017-01-01

    Clinical characteristics. PURA-related neurodevelopmental disorders include PURA syndrome, caused by a heterozygous pathogenic sequence variant in PURA, and 5q31.3 deletion syndrome, caused by a genomic 5q31.3 deletion encompassing all or part of PURA. PURA-related neurodevelopmental disorders are characterized by moderate to severe neurodevelopmental delay with absence of speech in most and lack of independent ambulation in many. Early-onset problems can include hypotonia, hypothermia, hyper...

  1. A Genetic Study of Attention Deficit Hyperactivity Disorder, Conduct Disorder, Oppositional Defiant Disorder and Reading Disability: Aetiological Overlaps and Implications

    Science.gov (United States)

    Martin, Neilson C.; Levy, Florence; Pieka, Jan; Hay, David A.

    2006-01-01

    Attention Deficit Hyperactivity Disorder (ADHD) commonly co-occurs with Oppositional Defiant Disorder, Conduct Disorder and Reading Disability. Twin studies are an important approach to understanding and modelling potential causes of such comorbidity. Univariate and bivariate genetic models were fitted to maternal report data from 2040 families of…

  2. Premature mortality in autism spectrum disorder

    National Research Council Canada - National Science Library

    Hirvikoski, Tatja; Mittendorfer-Rutz, Ellenor; Boman, Marcus; Larsson, Henrik; Lichtenstein, Paul; Bölte, Sven

    2016-01-01

    Mortality has been suggested to be increased in autism spectrum disorder (ASD). To examine both all-cause and cause-specific mortality in ASD, as well as investigate moderating role of gender and intellectual ability. Odds ratios (ORs...

  3. Early detection of Angelman syndrome resulting from de novo paternal isodisomic 15q UPD and review of comparable cases

    OpenAIRE

    Horv?th, Emese; Horv?th, Zsuzsanna; Isaszegi, D?ra; Gergev, Gyurgyinka; Nagy, Nikoletta; Szab?, J?nos; Sztriha, L?szl?; Sz?ll, M?rta; Endreffy, Em?ke

    2013-01-01

    Background Angelman syndrome is a rare neurogenetic disorder that results in intellectual and developmental disturbances, seizures, jerky movements and frequent smiling. Angelman syndrome is caused by two genetic disturbances: either genes on the maternally inherited chromosome 15 are deleted or inactivated or two paternal copies of the corresponding genes are inherited (paternal uniparental disomy). A 16-month-old child was referred with minor facial anomalies, neurodevelopmental delay and s...

  4. [Mental disorders and female infertility].

    Science.gov (United States)

    Schweiger, U; Wischmann, T; Strowitzki, T

    2012-11-01

    Approximately 5-10% of women in the reproductive years are affected by infertility which is associated with depression, anxiety and disturbed eating behavior. Part of this association can be explained by the emotional stress resulting from infertility. As mental disorders, such as depressive disorder or eating disorders are also prospectively associated with infertility, a bidirectional relationship is assumed. A special relationship exists between mental disorders and the main causes of ovulatory infertility, hypothalamic amenorrhea and polycystic ovary disease. The results of pilot studies support the assumption that psychotherapy may constitute an important component of the treatment of infertility.

  5. What Causes Cardiogenic Shock?

    Science.gov (United States)

    ... Home / Shock Cardiogenic Shock Causes Immediate Causes Cardiogenic shock occurs if the ... is cardiogenic shock. Tests and Procedures To Diagnose Shock and Its Underlying Causes Blood Pressure Test Medical ...

  6. 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 ...

  7. Conversion Disorder in Stroke: A Case Report

    Directory of Open Access Journals (Sweden)

    Hsien-Yeh Chou

    2006-11-01

    Full Text Available Conversion disorder is caused by previous severe stress, emotional conflict, or an associated psychiatric disorder, and usually presents with one or more neurologic symptoms. Clinically, it is challenging to diagnose diseases such as transient ischemia attack, stroke, brain tumor, spinal cord injury, and neuropathy. In this case report, we present a male stroke patient who had a typical conversion disorder.

  8. Early Intervention in Bipolar Disorder.

    Science.gov (United States)

    Vieta, Eduard; Salagre, Estela; Grande, Iria; Carvalho, André F; Fernandes, Brisa S; Berk, Michael; Birmaher, Boris; Tohen, Mauricio; Suppes, Trisha

    2018-01-24

    Bipolar disorder is a recurrent disorder that affects more than 1% of the world population and usually has its onset during youth. Its chronic course is associated with high rates of morbidity and mortality, making bipolar disorder one of the main causes of disability among young and working-age people. The implementation of early intervention strategies may help to change the outcome of the illness and avert potentially irreversible harm to patients with bipolar disorder, as early phases may be more responsive to treatment and may need less aggressive therapies. Early intervention in bipolar disorder is gaining momentum. Current evidence emerging from longitudinal studies indicates that parental early-onset bipolar disorder is the most consistent risk factor for bipolar disorder. Longitudinal studies also indicate that a full-blown manic episode is often preceded by a variety of prodromal symptoms, particularly subsyndromal manic symptoms, therefore supporting the existence of an at-risk state in bipolar disorder that could be targeted through early intervention. There are also identifiable risk factors that influence the course of bipolar disorder, some of them potentially modifiable. Valid biomarkers or diagnosis tools to help clinicians identify individuals at high risk of conversion to bipolar disorder are still lacking, although there are some promising early results. Pending more solid evidence on the best treatment strategy in early phases of bipolar disorder, physicians should carefully weigh the risks and benefits of each intervention. Further studies will provide the evidence needed to finish shaping the concept of early intervention.

  9. Taste disorders: A review

    Directory of Open Access Journals (Sweden)

    Vijay Kumar Ambaldhage

    2014-01-01

    Full Text Available For maintenance of the health of an individual, taste sensation is very important. It is an important sensation that serves to assess the nutritious content of food, support oral intake, and prevent ingestion of potentially toxic substances. Disturbances in the perception of taste can lead to loss of appetite, causing malnutrition and thus distressing both the physical and psychological well-being of the patient. Oral physicians are often the first clinicians who hear complaints about alteration in taste from the patients. In spite of the effect of taste changes on health, literature on the diagnosis, pathogenesis, and precise treatment of taste disorders are less. Taste changes may lead patients to seek inappropriate dental treatments. Proper diagnosis of the etiology is the foremost step in the treatment of taste disorders. Thus, it is important that dental clinicians to be familiar with the various causes and proper management of taste changes. In this article, we have reviewed related articles focusing on taste disorders and their management, to provide a quick sketch for the clinicians. A detailed search was performed to identify the systematic reviews and research articles on taste disorders, using PUBMED and Cochrane. All the authors independently extracted data for analysis and review. Ultimately, 26 articles underwent a full text review. In conclusion, the research to date certainly offers us valid management strategies for taste disorders. Meanwhile, practical strategies with the highest success are needed for further intervention.

  10. Respiratory manifestations of panic disorder: causes, consequences and therapeutic implications Manifestações respiratórias do transtorno de pânico: causas, consequências e implicações terapêuticas

    Directory of Open Access Journals (Sweden)

    Aline Sardinha

    2009-07-01

    Full Text Available Multiple respiratory abnormalities can be found in anxiety disorders, especially in panic disorder (PD. Individuals with PD experience unexpected panic attacks, characterized by anxiety and fear, resulting in a number of autonomic and respiratory symptoms. Respiratory stimulation is a common event during panic attacks. The respiratory abnormality most often reported in PD patients is increased CO2 sensitivity, which has given rise to the hypothesis of fundamental abnormalities in the physiological mechanisms that control breathing in PD. There is evidence that PD patients with dominant respiratory symptoms are more sensitive to respiratory tests than are those who do not manifest such symptoms, and that the former group constitutes a distinct subtype. Patients with PD tend to hyperventilate and to panic in response to respiratory stimulants such as CO2, triggering the activation of a hypersensitive fear network. Although respiratory physiology seems to remain normal in these subjects, recent evidence supports the idea that they present subclinical abnormalities in respiration and in other functions related to body homeostasis. The fear network, composed of the hippocampus, the medial prefrontal cortex, the amygdala and its brain stem projections, might be oversensitive in PD patients. This theory might explain why medication and cognitive-behavioral therapy are both clearly effective. Our aim was to review the relationship between respiration and PD, addressing the respiratory subtype of PD and the hyperventilation syndrome, with a focus on respiratory challenge tests, as well as on the current mechanistic concepts and the pharmacological implications of this relationship.Múltiplas anormalidades respiratórias podem ser encontradas em pacientes com transtornos de ansiedade, particularmente no transtorno de pânico (TP. Indivíduos com TP experimentam ataques de pânico inesperados, caracterizados por ansiedade, medo e diversos sintomas auton

  11. Physiological Disorders in Closed, Controlled Environment Crops

    Science.gov (United States)

    Wheeler, Raymond M.; Morrow, Robert C.

    2010-01-01

    This slide presentation reviews some of the physiological disorders that affect crops grown in closed controlled environments. A physiological disorder is understood to be a problem resulting from the influence of environmental and horticultural factors on plan development other than a problem caused by a pathogen or some other abiotic cause. The topics that are addressed are: (1) Calcium-Related Disorders (2) Oedema (Intumescence) (3) Long-Photoperiod Injury (4) Light Spectral Quality Effects (5) Super-Elevated CO2 Injuries (6) Ethylene (7) Other Disorders (8) Considerations for Closed Space Environments. Views of plant with the disorders are shown.

  12. Dyscalculia: Characteristics, Causes, and Treatments

    Directory of Open Access Journals (Sweden)

    Gavin R. Price

    2013-01-01

    Full Text Available Developmental Dyscalculia (DD is a learning disorder affecting the ability to acquire school-level arithmetic skills, affecting approximately 3-6% of individuals. Progress in understanding the root causes of DD and how best to treat it have been impeded by lack of widespread research and variation in characterizations of the disorder across studies. However, recent years have witnessed significant growth in the field, and a growing body of behavioral and neuroimaging evidence now points to an underlying deficit in the representation and processing of numerical magnitude information as a potential core deficit in DD. An additional product of the recent progress in understanding DD is the resurgence of a distinction between ‘primary’ and ‘secondary’ developmental dyscalculia. The first appears related to impaired development of brain mechanisms for processing numerical magnitude information, while the latter refers to mathematical deficits stemming from external factors such as poor teaching, low socio-economic status, and behavioral attention problems or domain-general cognitive deficits. Increased awareness of this distinction going forward, in combination with longitudinal empirical research, offers great potential for deepening our understanding of the disorder and developing effective educational interventions.

  13. A rare cause of osteonecrosis

    Directory of Open Access Journals (Sweden)

    Paolo Agostinis

    2012-01-01

    Full Text Available IntroductionHereditary hemochromatosis (HH is an autosomal recessive disorder caused by mutations in the HFE gene, which increase intestinal iron absorption. The prevalence of C282Y homozygosity, which causes the disorder, is 0.5% in Caucasian populations. The clinical manifestations are related to excess iron in the tissues, especially the liver, heart, pancreas, pituitary, and skin. They include fatigue, loss of libido or impotence in males, liver disease, skin pigmentation, diabetes mellitus, cardiac enlargement—with or without heart failure, and conduction defects. The classic triad of cirrhosis, diabetes mellitus, and skin pigmentation (“bronze diabetes” results from a combination of iron deposits and melanin. It occurs late in the disease, when the total body iron content is more than five times the normal value, about 20 grams. Left untreated, approximately half of all patients with HH eventually develop arthralgia or arthropathy. Chondrocalcinosis, chronic pseudo-osteoarthritis, and osteoporosis are the major rheumatic manifestations of HH. The cause of the arthropathy is still unknown. Iron deposits within joints may trigger a number of pathologic events, such as free radical generation and crystal deposition, which stimulate immune complex formation and inflammation.Materials and methodsWe describe the case of a 48-year-old male suffering from chronic bilateral ankle pain.ResultsThe work-up revealed osteonecrosis of ankle. The patient also presented high plasma ferritin levels and homozygosity for the C282Y mutation. Other than HH, which was confirmed by liver biopsy, the patient had no other risk factors for osteonecrosis.DiscussionHH represents a rare cause of osteonecrosis, and there are no prior reports of aseptic osteonecrosis of the ankle in a patient with this disease. The pathogenetic mechanism remains unknown.

  14. The effect of ANK3 bipolar-risk polymorphisms on the working memory circuitry differs between loci and according to risk-status for bipolar disorder.

    Science.gov (United States)

    Delvecchio, Giuseppe; Dima, Danai; Frangou, Sophia

    2015-04-01

    Polymorphisms at the rs10994336 and rs9804190 loci of the Ankyrin 3 (ANK3) gene have been strongly associated with increased risk for bipolar disorder (BD). However, their potential pathogenetic effect on BD-relevant neural circuits remains unknown. We examined the effect of BD-risk polymorphisms at rs10994336 and rs9804190 on the working memory (WM) circuit using functional magnetic resonance imaging (fMRI) data obtained from euthymic patients with BD (n = 41), their psychiatrically healthy first-degree relatives (n = 25) and unrelated individuals without personal or family history of psychiatric disorders (n = 46) while performing the N-back task. In unrelated healthy individuals, the rs10994336-risk-allele was associated with reduced activation of the ventral visual cortical components of the WM circuit while the rs9804190-risk-allele was associated with inefficient hyperactivation of the prefrontal cortical components of the WM. In patients and their healthy relatives, risk alleles at either loci were associated with hyperactivation in the ventral anterior cingulate cortex. Additionally, Rs9804190-risk-allele carriers with BD evidenced abnormal hyperactivation within the posterior cingulate cortex. This study provides new insights on the neurogenetic correlates of allelic variation at different genome-wide supported BD-risk associated ANK3 loci that support their involvement in BD and highlight the modulatory influence of increased background genetic risk for BD. © 2015 Wiley Periodicals, Inc.

  15. Evolutionary Explanations of Eating Disorders

    Directory of Open Access Journals (Sweden)

    Igor Kardum

    2008-12-01

    Full Text Available This article reviews several most important evolutionary mechanisms that underlie eating disorders. The first part clarifies evolutionary foundations of mental disorders and various mechanisms leading to their development. In the second part selective pressures and evolved adaptations causing contemporary epidemic of obesity as well as differences in dietary regimes and life-style between modern humans and their ancestors are described. Concerning eating disorders, a number of current evolutionary explanations of anorexia nervosa are presented together with their main weaknesses. Evolutionary explanations of eating disorders based on the reproductive suppression hypothesis and its variants derived from kin selection theory and the model of parental manipulation were elaborated. The sexual competition hypothesis of eating disorder, adapted to flee famine hypothesis as well as explanation based on the concept of social attention holding power and the need to belonging were also explained. The importance of evolutionary theory in modern conceptualization and research of eating disorders is emphasized.

  16. Nutritional therapies for mental disorders

    Directory of Open Access Journals (Sweden)

    Vieira Karen F

    2008-01-01

    Full Text Available Abstract According to the Diagnostic and Statistical Manual of Mental Disorders, 4 out of the 10 leading causes of disability in the US and other developed countries are mental disorders. Major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD are among the most common mental disorders that currently plague numerous countries and have varying incidence rates from 26 percent in America to 4 percent in China. Though some of this difference may be attributable to the manner in which individual healthcare providers diagnose mental disorders, this noticeable distribution can be also explained by studies which show that a lack of certain dietary nutrients contribute to the development of mental disorders. Notably, essential vitamins, minerals, and omega-3 fatty acids are often deficient in the general population in America and other developed countries; and are exceptionally deficient in patients suffering from mental disorders. Studies have shown that daily supplements of vital nutrients often effectively reduce patients' symptoms. Supplements that contain amino acids also reduce symptoms, because they are converted to neurotransmitters that alleviate depression and other mental disorders. Based on emerging scientific evidence, this form of nutritional supplement treatment may be appropriate for controlling major depression, bipolar disorder, schizophrenia and anxiety disorders, eating disorders, attention deficit disorder/attention deficit hyperactivity disorder (ADD/ADHD, addiction, and autism. The aim of this manuscript is to emphasize which dietary supplements can aid the treatment of the four most common mental disorders currently affecting America and other developed countries: major depression, bipolar disorder, schizophrenia, and obsessive compulsive disorder (OCD. Most antidepressants and other prescription drugs cause severe side effects, which usually discourage patients from taking their medications. Such

  17. Understanding the Covariation among Childhood Externalizing Symptoms: Genetic and Environmental Influences on Conduct Disorder, Attention Deficit Hyperactivity Disorder, and Oppositional Defiant Disorder Symptoms.

    Science.gov (United States)

    Dick, Danielle M.; Viken, Richard J.; Kaprio, Jaakko; Pulkkinen, Lea; Rose, Richard J.

    2005-01-01

    Conduct disorder (CD), attention deficit hyperactivity disorder (ADHD), and oppositional defiant disorder (ODD) are common childhood externalizing disorders that frequently co-occur. However, the causes of their comorbidity are not well understood. To address that question, we analyzed data from >600 Finnish twin pairs, who completed standardized…

  18. Panic Disorder among Adults

    Science.gov (United States)

    ... of Panic Disorder Among Adolescents Data Sources Share Panic Disorder Definition Panic Disorder is an anxiety disorder ... Health Topics page on Anxiety Disorders . Prevalence of Panic Disorder Among Adults Based on diagnostic interview data ...

  19. Borderline Personality Disorder

    Science.gov (United States)

    ... Any Anxiety Disorder Among Children Agoraphobia Among Adults Agoraphobia Among Children Generalized Anxiety Disorder Among Adults Generalized Anxiety Disorder Among Children Obsessive Compulsive Disorder Among Adults Panic Disorder Among Adults Panic Disorder Among Children Post- ...

  20. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2013-01-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  1. Genetically caused congenital anomalies of reproductive system

    Directory of Open Access Journals (Sweden)

    L. F. Kurilo

    2014-11-01

    Full Text Available Classification of congenital disorders, their frequency of occurrence in populations, and some terminology questions discussed in the review. Genetically caused congenital anomalies of reproductive system are outlined. Full information about genetic syndromes is stated in the book: Kozlova S.I., Demikova N.S. Hereditary syndromes and genetic counseling. M., 2007.

  2. Pneumonia Caused by Moraxella Catarrhalis in Haematopoietic ...

    African Journals Online (AJOL)

    Moraxella catarrhalis is a gram negative diplococcus that causes a variety of upper and lower respiratory tract infections. Patients with malignant, hematological disorders treated with intensive cytotoxic chemotherapy, and recipients of various forms of haematopoietic stem cell transplant receiving immunosuppressive ...

  3. 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

  4. 4. Disorder

    African Journals Online (AJOL)

    Parkinson's disease (31%), tremor (24%), chorea. (20%), and dystonia (16.5%). Myoclonus, tic, tardive dyskinesia, and other movement disorders. (8.5%) were rare in adult Zambian patients. In 25 patients (11.3%) akinetic-rigid syndromes and hyperkinetic movement disorders were manifestations of HIV/AIDS. Conclusions: ...

  5. Mood Disorders

    Science.gov (United States)

    ... a person’s risk for health complications. However, treating mood disorders can have positive effects on treatment outcomes and recovery from co-occurring disorders as well. Studies focusing on conditions that frequently co-occur and how they affect one another may lead to more targeted screening ...

  6. Anxiety Disorders

    Science.gov (United States)

    Klein, Rachel G.

    2009-01-01

    Because of their high prevalence and their negative long-term consequences, child anxiety disorders have become an important focus of interest. Whether pathological anxiety and normal fear are similar processes continues to be controversial. Comparative studies of child anxiety disorders are scarce, but there is some support for the current…

  7. Anxiety Disorders.

    Science.gov (United States)

    Dickey, Marilyn

    Anxiey, in general, helps one to cope. It rouses a person to action and gears one up to face a threatening situation. It makes students study harder for exams, and keeps presenters on their toes when making speeches. But an anxiety disorder can prevent one from coping and can disrupt daily life. Anxiety disorders are not just a case of…

  8. Tourette's Disorder.

    Science.gov (United States)

    Lyon, Gholson J; Shprecher, David; Coffey, Barbara; Kurlan, Roger

    2010-07-01

    Tourette's disorder (TD) is a common childhood-onset neuropsychiatric disorder characterized by chronic motor and vocal tics. TD frequently occurs with other neuropsychiatric disorders, such as attention deficit hyperactivity disorder (ADHD) and obsessive-compulsive disorder (OCD), and may contribute to reduced quality of life and disability. Currently available treatments to reduce tics are limited by variable clinical response and frequent adverse effects. They include alpha-2 agonists, antipsychotics (first and second generation), tetrabenazine, benzodiazepines, and habit reversal therapy. Some new and emerging (but unproven) treatments are also discussed, including topiramate and dopamine agonists. In addition, there is increasing interest in deep brain stimulation, but this is not yet ready for general use.

  9. What Causes Sarcoidosis?

    Science.gov (United States)

    ... related to the disease are more common in Japanese people. Lofgren's syndrome, a type of sarcoidosis, is ... and treating heart, lung, blood, and sleep disorders. Learn more about participating in a clinical trial . View ...

  10. Causes of Pediatric Cardiomyopathy

    Science.gov (United States)

    ... can be related to another inherited metabolic or congenital muscle disorder such as Noonan syndrome, Pompe disease, fatty ... problems with growth, brain dysfunction, decreased muscle tone, muscle weakness, and ... Cases Malformation syndromes are characterized by minor ...

  11. Somatic symptom disorder

    Science.gov (United States)

    ... disorders; Somatization disorder; Somatiform disorders; Briquet syndrome; Illness anxiety disorder ... JF, Fava M, et al, eds. Massachusetts General Hospital Comprehensive Clinical Psychiatry. 2nd ed. Philadelphia, PA: Elsevier; ...

  12. Treatment for Anxiety Disorders

    Science.gov (United States)

    ... and Conceptions Generalized Anxiety Disorder Panic Disorder Agoraphobia Social Anxiety Disorder Specific Phobias Depression Symptoms Depression Treatment and Management Bipolar Disorder Stress Suicide and Prevention ...

  13. Screening for Panic Disorder

    Science.gov (United States)

    ... and Conceptions Generalized Anxiety Disorder Panic Disorder Agoraphobia Social Anxiety Disorder Specific Phobias Depression Symptoms Depression Treatment and Management Bipolar Disorder Stress Suicide and Prevention ...

  14. 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. ... ed. Arlington, VA: American Psychiatric Publishing: 2013;50-59. ...

  15. Seasonal variations in sleep disorders of nurses.

    Science.gov (United States)

    Chang, Yuanmay; Lam, Calvin; Chen, Su-Ru; Sithole, Trevor; Chung, Min-Huey

    2017-04-01

    To investigate the difference between nurses and the general population regarding seasonal variations in sleep disorders during 2004-2008. The effects of season and group interaction on sleep disorders with regard to different comorbidities were also examined. Studies on seasonal variations in sleep disorders were mainly conducted in Norway for the general population. Furthermore, whether different comorbidities cause seasonal variations in sleep disorders in nurses remains unknown. A retrospective study. Data from the Taiwan National Health Insurance Research Database were used in generalised estimating equation Poisson distribution models to investigate the differences in sleep disorders between nurses and the general population diagnosed with sleep disorders (each n = 7643) as well as the interaction effects of sleep disorders between the groups with respect to different seasons. Furthermore, the interaction effects between groups and seasons on sleep disorders in the subgroups of comorbid anxiety disorders and depressive disorders were studied. Both the nurses and the general population had fewer outpatient visits for sleep disorders in winter than in other seasons. The nurses had fewer outpatient visits for sleep disorders than the general population did in each season. The nurses had more outpatient visits for sleep disorders in winter than in summer compared with the general population in the comorbid depressive disorder subgroup but not in the comorbid anxiety disorder subgroup. Nurses and the general population exhibited similar seasonal patterns of sleep disorders, but nurses had fewer outpatient visits for sleep disorders than the general population did in each season. For nurses with comorbid depressive disorders, outpatient visits for sleep disorders were more numerous in winter than in summer, potentially because nurses with comorbid depressive disorders are affected by shorter daylight exposure during winter. Depression and daylight exposure may

  16. Taenia saginata: A Rare Cause of Gall Bladder Perforation

    Science.gov (United States)

    Hakeem, Suhail Yaqoob; Rashid, Arshad; Khuroo, Suhail; Bali, Rajandeep Singh

    2012-01-01

    We report a case of biliary peritonitis caused by gall bladder perforation due to Taenia saginata induced gangrenous cholecystitis. Although parasites are not unusual causes of biliary tract disorders, especially in disease endemic areas, but this is for the first time that Taenia saginata has been reported to cause gall bladder perforation. PMID:22792505

  17. Taenia saginata: A Rare Cause of Gall Bladder Perforation

    OpenAIRE

    Hakeem, Suhail Yaqoob; Rashid, Arshad; Khuroo, Suhail; Bali, Rajandeep Singh

    2012-01-01

    We report a case of biliary peritonitis caused by gall bladder perforation due to Taenia saginata induced gangrenous cholecystitis. Although parasites are not unusual causes of biliary tract disorders, especially in disease endemic areas, but this is for the first time that Taenia saginata has been reported to cause gall bladder perforation.

  18. Taenia saginata: A Rare Cause of Gall Bladder Perforation

    Directory of Open Access Journals (Sweden)

    Suhail Yaqoob Hakeem

    2012-01-01

    Full Text Available We report a case of biliary peritonitis caused by gall bladder perforation due to Taenia saginata induced gangrenous cholecystitis. Although parasites are not unusual causes of biliary tract disorders, especially in disease endemic areas, but this is for the first time that Taenia saginata has been reported to cause gall bladder perforation.

  19. Bipolar Disorder and Diabetes Mellitus

    Directory of Open Access Journals (Sweden)

    Sermin Kesebir

    2010-04-01

    Full Text Available Comorbid endocrine and cardiovascular situations with bipolar disorder usually result from the bipolar disorder itself or as a consequence of its treatment. With habits and lifestyle, genetic tendency and side effects, this situation is becoming more striking. Subpopulations of bipolar disorders patients should be considered at high risk for diabetes mellitus. The prevalence of diabetes mellitus in bipolar disorder may be three times greater than in the general population. Comorbidity of diabetes causes a pathophysiological overlapping in the neurobiological webs of bipolar cases. Signal mechanisms of glycocorticoid/insulin and immunoinflammatory effector systems are junction points that point out the pathophysiology between bipolar disorder and general medical cases susceptible to stress. Glycogen synthetase kinase (GSK-3 is a serine/treonine kinase and inhibits the transport of glucose stimulated by insulin. It is affected in diabetes, cancer, inflammation, Alzheimer disease and bipolar disorder. Hypoglycemic effect of lithium occurs via inhibiting glycogen synthetase kinase. When comorbid with diabetes, the other disease -for example bipolar disorder, especially during its acute manic episodes-, causes a serious situation that presents its influences for a lifetime. Choosing pharmacological treatment and treatment adherence are another important interrelated areas. The aim of this article is to discuss and review the etiological, clinical and therapeutic properties of diabetes mellitus and bipolar disorder comorbidity.

  20. Causes of High Cholesterol

    Science.gov (United States)

    ... Venous Thromboembolism Aortic Aneurysm More Causes of High Cholesterol Updated:Nov 16,2017 If you have high ... for a heart or stroke event? Find out . Cholesterol • Home • About Cholesterol • HDL, LDL, and Triglycerides • Causes ...

  1. What Causes Polycythemia Vera?

    Science.gov (United States)

    ... page from the NHLBI on Twitter. What Causes Polycythemia Vera? Primary Polycythemia Polycythemia vera (PV) also is known as primary ... may play a role in causing PV. Secondary Polycythemia Another type of polycythemia, called secondary polycythemia, isn' ...

  2. What Causes Cushing's Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Cushing syndrome? Cushing syndrome can develop for two reasons: ... uhs ), thyroid, or thymus How Tumors Can Cause Cushing Syndrome Normally, the pituitary gland in the brain ...

  3. What Causes COPD?

    Science.gov (United States)

    ... please turn JavaScript on. Feature: The Challenge of COPD What Causes COPD? Past Issues / Fall 2014 Table of Contents Long- ... and the airways usually is the cause of COPD. In the United States, the most common irritant ...

  4. What Causes Rett Syndrome?

    Science.gov (United States)

    ... Share Facebook Twitter Pinterest Email Print What causes Rett syndrome? Most cases of Rett syndrome are caused by ... as bad for development as too little. Is Rett syndrome passed from one generation to the next? In ...

  5. What Causes Lactose Intolerance?

    Science.gov (United States)

    ... Find a Study Resources and Publications What causes lactose intolerance? Skip sharing on social media links Share ... lactase in the body is the cause of lactose intolerance. The names for the three types of ...

  6. Comorbidity of Social Anxiety Disorder and Attention Deficit Hyperactivity Disorder

    Directory of Open Access Journals (Sweden)

    Ahmet Koyuncu

    2014-02-01

    Full Text Available Despite high rates of reported comorbidity in patients with social anxiety disorder, attention deficit hyperactivity disorder comorbidity was not evaluated in these studies. Studies, investigating the prevalence of adult attention deficit hyperactivity disorder (ADHD comorbidity in social anxiety disorder are limited and little is known about it. The reason for this may be the fact that, ADHD have been seen as a childhood disease over a period of time. In the prospective studies ,it is reported that ADHD is often observed in the adulthood and effects persist . On the other hand, studies on attention deficit hyperactivity disorder, higher rates of social anxiety disorder comorbidity have been reported. The presence of comorbid anxiety disorder increases the risk of impulsive feature in ADHD, causes problems in functionality, impaired compliance and resistance to the treatment. The aim of this article is to investigate the the status of social anxiety disorder and ADHD comorbidity and to discuss the hypothesis of antidepressant-associated hypomanic shift due to antidepressant treatment in social anxiety disorder patients. [Psikiyatride Guncel Yaklasimlar - Current Approaches in Psychiatry 2014; 6(1.000: 10-21

  7. [Delusional disorders].

    Science.gov (United States)

    Garnier, Marion; Llorca, Pierre-Michel

    2015-02-01

    Delusional disorders are divided in French nosography into three clinical disease entities: paranoid delusions, psychose hallucinatoire chronique, and paraphrenia. Their common characteristics are a late start, a chronic evolution, no cognitive impairment and no dissociation. Delusio- nal syndrome is often at the forefront with a predominant mechanism characterizing each disorder (interpretation for paranoid delusions, hallucination for psychose hallucinatoire chronique and imagination for paraphrenia). Although these disorders are less sensitive to the medication than schizophrenia, care is based on second generation antipsychotic treatment, in association with psychotherapy and social care. The aim of treatment is to alleviate delusion intensity to improve global functioning and to prevent violent incidents or suicide attempt.

  8. Compulsive masturbation in a patient with delusional disorder

    Directory of Open Access Journals (Sweden)

    Sagar Karia

    2015-01-01

    Full Text Available Compulsive masturbation is a type of paraphilia related disorder in which a person engages in masturbatory behavior to such an extent that it causes socio-occupational dysfunction. The psychiatric co-morbidities associated with it include mood and anxiety disorders, substance use disorders, etc. Here, we report a case of a patient with the delusional disorder having compulsive masturbation.

  9. Clinical aspects and treatment of taste and smell disorders

    NARCIS (Netherlands)

    A. van Nieuw Amerongen; F.K.L. Spijkervet; A. Visser; R. Weissenbruch; A. Vissink; Dr Harriët Jager-Wittenaar

    2013-01-01

    Taste and smell perception are closely related. Many chemosensory disorders which result in faulty taste are in fact smell disorders. Causes of chemosensory disorders which call for attention are ageing, medication, natural proteins, burning mouth syndrome, nerve injuries, aerate disorders in the

  10. Compulsive masturbation in a patient with delusional disorder

    OpenAIRE

    Sagar Karia; Avinash De Sousa; Nilesh Shah; Sushma Sonavane

    2015-01-01

    Compulsive masturbation is a type of paraphilia related disorder in which a person engages in masturbatory behavior to such an extent that it causes socio-occupational dysfunction. The psychiatric co-morbidities associated with it include mood and anxiety disorders, substance use disorders, etc. Here, we report a case of a patient with the delusional disorder having compulsive masturbation.

  11. Management of female infertility from hormonal causes.

    Science.gov (United States)

    Luciano, Antony A; Lanzone, Antonio; Goverde, Angelique J

    2013-12-01

    Hormonal causes of female infertility involve ovulatory dysfunctions that may result from dysfunction of the hypothalamic-pituitary-ovarian axis, peripheral endocrine glands, nonendocrine organs, or metabolic disorders. It is important to think of anovulation not as a diagnosis but as a symptom of a metabolic or endocrine disorder that requires a thorough diagnostic evaluation to identify the specific cause and to implement effective therapies that assure the best possible pregnancy outcome and avoid long-term adverse health consequences. In most instances, the medical history points to the underlying dysfunction, which can usually be confirmed with laboratory or imaging tests. For more challenging cases, more extensive evaluations may be needed, including perturbation studies. Nevertheless, the management of anovulatory infertility is gratifying because its causes are often manifest and the treatment usually results in resumption of ovulatory cycles, restoration of fertility, and healthy offspring through natural conception without requiring expensive and intrusive assisted reproductive technologies. © 2013.

  12. Psychosexual disorders and dermatologists.

    Science.gov (United States)

    Narang, Tarun; Garima; Singh, Shubh M

    2016-01-01

    Sexual problems that are psychological in origin, rather than physiological, are called psychosexual disorders. Multiple factors, such as general health of the patient, chronic illnesses, psychiatric/psychological disorders, and socio-cultural factors, alone or in combination can be attributed to the development of psychosexual dysfunctions. The symptoms of these disorders vary for each individual and differ with gender. These disorders may be categorized as sexual dysfunction, paraphilias, and gender identity disorders. Dermatologists are sometimes consulted for sexual dysfunctions in their routine practice by the patients visiting sexually transmitted infections (STI) clinics because a majority of the patients believe that these problems are caused by dysfunctions in the sex organs, and because people are hesitant to go to sexuality clinics and psychiatrists for such problems. Sometimes these patients are referred from other specialties such as urology or gynecology; most often, we attempt to search for STIs or other dermatoses on the genitalia and refer them back. We often underestimate the prevalence of sexual concerns of the patients or feel uncomfortable discussing matters of sexuality with them. Dermatologists should understand basic sexual medicine and ask patients for sexual problems. They should be trained to manage such patients accordingly. In this review, we will be focusing on sexual dysfunctions, their etiopathogenesis, and management from a dermatologist's perspective.

  13. [Esophageal motility disorders].

    Science.gov (United States)

    Hannig, C; Wuttge-Hannig, A; Rummeny, E

    2007-02-01

    For the better understanding of esophageal motility, the muscle texture and the distribution of skeletal and smooth muscle fibers in the esophagus are of crucial importance. Esophageal physiology will be shortly mentioned as far as necessary for a comprehensive understanding of peristaltic disturbances. Besides the pure depiction of morphologic criteria, a complete esophageal study has to include an analysis of the motility. New diagnostic tools with reduced radiation for dynamic imaging (digital fluoroscopy, videofluoroscopy) at 4-30 frames/s are available. Radiomanometry is a combination of a functional pressure measurement and a simultaneous dynamic morphologic analysis. Esophageal motility disorders are subdivided by radiologic and manometric criteria into primary, secondary, and nonclassifiable forms. Primary motility disorders of the esophagus are achalasia, diffuse esophageal spasm, nutcracker esophagus, and the hypertonic lower esophageal sphincter. The secondary motility disorders include pseudoachalasia, reflux-associated motility disorders, functionally caused impactions, Boerhaave's syndrome, Chagas'disease, scleroderma, and presbyesophagus. The nonclassificable motility disorders (NEMD) are a very heterogeneous collective.

  14. Psychosexual disorders and dermatologists

    Directory of Open Access Journals (Sweden)

    Tarun Narang

    2016-01-01

    Full Text Available Sexual problems that are psychological in origin, rather than physiological, are called psychosexual disorders. Multiple factors, such as general health of the patient, chronic illnesses, psychiatric/psychological disorders, and socio-cultural factors, alone or in combination can be attributed to the development of psychosexual dysfunctions. The symptoms of these disorders vary for each individual and differ with gender. These disorders may be categorized as sexual dysfunction, paraphilias, and gender identity disorders. Dermatologists are sometimes consulted for sexual dysfunctions in their routine practice by the patients visiting sexually transmitted infections (STI clinics because a majority of the patients believe that these problems are caused by dysfunctions in the sex organs, and because people are hesitant to go to sexuality clinics and psychiatrists for such problems. Sometimes these patients are referred from other specialties such as urology or gynecology; most often, we attempt to search for STIs or other dermatoses on the genitalia and refer them back. We often underestimate the prevalence of sexual concerns of the patients or feel uncomfortable discussing matters of sexuality with them. Dermatologists should understand basic sexual medicine and ask patients for sexual problems. They should be trained to manage such patients accordingly. In this review, we will be focusing on sexual dysfunctions, their etiopathogenesis, and management from a dermatologist's perspective.

  15. Psychosexual disorders and dermatologists

    Science.gov (United States)

    Narang, Tarun; Garima; Singh, Shubh M.

    2016-01-01

    Sexual problems that are psychological in origin, rather than physiological, are called psychosexual disorders. Multiple factors, such as general health of the patient, chronic illnesses, psychiatric/psychological disorders, and socio-cultural factors, alone or in combination can be attributed to the development of psychosexual dysfunctions. The symptoms of these disorders vary for each individual and differ with gender. These disorders may be categorized as sexual dysfunction, paraphilias, and gender identity disorders. Dermatologists are sometimes consulted for sexual dysfunctions in their routine practice by the patients visiting sexually transmitted infections (STI) clinics because a majority of the patients believe that these problems are caused by dysfunctions in the sex organs, and because people are hesitant to go to sexuality clinics and psychiatrists for such problems. Sometimes these patients are referred from other specialties such as urology or gynecology; most often, we attempt to search for STIs or other dermatoses on the genitalia and refer them back. We often underestimate the prevalence of sexual concerns of the patients or feel uncomfortable discussing matters of sexuality with them. Dermatologists should understand basic sexual medicine and ask patients for sexual problems. They should be trained to manage such patients accordingly. In this review, we will be focusing on sexual dysfunctions, their etiopathogenesis, and management from a dermatologist's perspective. PMID:27294047

  16. 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.

  17. Prevalence of epilepsy and seizure disorders as causes of apparent life- threatening event (ALTE in children admitted to a tertiary hospital Prevalência de epilepsia e crises epilépticas como causa de eventos com aparente risco de vida (ALTE em crianças internadas em hospital terciário

    Directory of Open Access Journals (Sweden)

    Alessandra Marques dos Anjos

    2009-09-01

    Full Text Available OBJECTIVE: To determine the prevalence and describe clinical characteristics of seizure disorders and epilepsy as causes of apparent life- threatening event (ALTE in children admitted at the emergency and followed in a tertiary hospital. METHOD: Cross-sectional study with prospective data collection using specific guidelines to determine the etiology of ALTE. RESULTS: During the study, 30 (4.2% children admitted to the hospital had a diagnosis of ALTE. There was a predominance of males (73% and term infants (70%. Neonatal neurological disorders and neuropsychomotor development delay were found respectively in 13.4% and 10% of the cases. Etiological investigation revealed that 50% of the cases were idiopathic, and 13.4% were caused by epilepsy or seizure disorders. Although all patients had recurrent ALTE events, epilepsy had not been previously suspected. CONCLUSION: Epilepsy should be included in the differential diagnosis of ALTE, particularly when events are recurrent.OBJETIVO: Determinar a prevalência e características clínicas de crises epilépticas e epilepsia como causa de eventos com aparente risco de vida (ALTE em crianças atendidas na emergência e acompanhadas em hospital terciário. MÉTODO: Estudo transversal com coleta prospectiva de dados através de protocolo específico para identificação da etiologia de ALTE. RESULTADOS: Foram diagnosticadas 30 crianças com ALTE perfazendo 4.2% das crianças internadas no período do estudo. Houve predominância no sexo masculino (73% e em neonatos a termo (70%. História prévia de doenças neurológicas no período neonatal e atraso no desenvolvimento neuropsicomotor ocorreram respectivamente em 13.4% e 10% dos casos. A investigação etiológica identificou 13.4% dos casos relacionados a epilepsia ou crise convulsivas e 50% idiopáticos. Apesar destes pacientes terem apresentados episódios recorrentes em nenhum caso havia a suspeita prévia de epilepsia. CONCLUSÃO: Ao investigar

  18. Is premenstrual dysphoric disorder really a disorder?

    Science.gov (United States)

    Browne, Tamara Kayali

    2015-06-01

    Premenstrual dysphoric disorder (PMDD) was recently moved to a full category in the DSM-5 (the latest edition of the American Psychiatric Association's Diagnostic and Statistical Manual of Mental Disorders). It also appears set for inclusion as a separate disorder in the ICD-11 (the upcoming edition of the World Health Organization's International Statistical Classification of Diseases and Related Health Problems). This paper argues that PMDD should not be listed in the DSM or the ICD at all, adding to the call to recognise PMDD as a socially constructed disorder. I first present the argument that PMDD pathologises understandable anger/distress and that to do so is potentially dangerous. I then present evidence that PMDD is a culture-bound phenomenon, not a universal one. I also argue that even if (1) medication produces a desired effect, (2) there are biological correlates with premenstrual anger/distress, (3) such anger/distress seems to occur monthly, and (4) women are more likely than men to be diagnosed with affective disorders, none of these factors substantiates that premenstrual anger/distress is caused by a mental disorder. I argue that to assume they do is to ignore the now accepted role that one's environment and psychology play in illness development, as well as arguments concerning the social construction of mental illness. In doing so, I do not claim that there are no women who experience premenstrual distress or that their distress is not a lived experience. My point is that such distress can be recognised and considered significant without being pathologised and that it is unethical to describe premenstrual anger/distress as a mental disorder. Further, if the credibility of women's suffering is subject to doubt without a clinical diagnosis, then the way to address this problem is to change societal attitudes towards women's suffering, not to label women as mentally ill. The paper concludes with some broader implications for women and society of the

  19. Lymphatic Disorders

    Science.gov (United States)

    ... blood from the upper body into the heart. Lymphatic System: Helping Defend Against Infection The lymphatic system ... the neck, armpits, and groin. Disorders of the lymphatic system The lymphatic system may not carry out ...

  20. Autoimmune disorders

    Science.gov (United States)

    ... at the same time. Common autoimmune disorders include: Addison disease Celiac disease - sprue (gluten-sensitive enteropathy) Dermatomyositis Graves ... In: McPherson RA, Pincus MR, eds. Henry's Clinical Diagnosis and Management by Laboratory Methods . 22nd ed. Philadelphia, ...

  1. 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:

  2. 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 - ...

  3. Panic disorder

    Science.gov (United States)

    ... chap 32. Kang CS, Harrison BP. Anxiety and panic disorders. In: Adams JG, ed. Emergency Medicine: ... by: Fred K. Berger, MD, addiction and forensic psychiatrist, Scripps Memorial Hospital, La Jolla, ...

  4. Muscle disorder

    Science.gov (United States)

    Myopathic changes; Myopathy; Muscle problem ... Blood tests sometimes show abnormally high muscle enzymes. If a muscle disorder might also affect other family members, genetic testing may be done. When someone has symptoms and signs ...

  5. Depersonalization disorder.

    Science.gov (United States)

    Reutens, Sharon; Nielsen, Olav; Sachdev, Perminder

    2010-05-01

    There is increasing interest in depersonalization disorder, in part because of the increased community awareness of the condition via the Internet. The disorder may be more prevalent than schizophrenia but is often misdiagnosed; hence, an update is timely. Recent research has included characterization of the nosology and phenomenology of the disorder, whereas emerging evidence demonstrates a neurophysiological dampening down in addition to psychological dampening in the face of emotional stimulation. Greater understanding of the clinical characteristics of this disorder will improve the reliability of diagnosis and aid the development of neurobiological and psychological models for empirical testing. Although response to current treatments has been disappointing, recent research has identified the basis for the development of new pharmacological and psychological treatments.

  6. Personality Disorders

    Science.gov (United States)

    ... narcissistic personality have an exaggerated sense of self-importance, are absorbed by fantasies of unlimited success, and ... with avoidant personality disorder may have no close relationships outside of their family circle, although they would like to, and are ...

  7. Swallowing Disorders

    Science.gov (United States)

    ... dystrophy, a rare, progressive genetic disorder. View Full Definition Treatment Changing a person's diet by adding thickeners helps many people, as does learning different ways to eat and chew that reduce ...

  8. Sleep Disorders

    Science.gov (United States)

    ... sufficient to promote a normal circadian rhythm. Avoid sedentary activities during the day. Participate in activities outside ... the name. People with rapid eye movement sleep behavior disorder (RBD) do not have the normal relaxation ...

  9. Bipolar disorder

    OpenAIRE

    Goodwin, Frederick K.; Ghaemi, S. Nassir

    1999-01-01

    Bipolar disorder's unique combination of three characteristics - clear genetic diathesis, distinctive clinical features, early availability of an effective treatment (lithium) - explains its special place in the history of psychiatry and its contribution to the current explosive growth of neuroscience. This article looks at the state of the art in bipolar disorder from the vantage point of: (i) genetics (possible linkages on chromosomes 18 and 21q, polygenic hypothesis, research into genetic ...

  10. Personality disorder

    DEFF Research Database (Denmark)

    Tyrer, Peter; Mulder, Roger; Crawford, Mike

    2010-01-01

    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 and to s......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...... 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...... 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....

  11. NIH Researchers Find Potential Genetic Cause of Cushing Syndrome

    Science.gov (United States)

    ... 2017 NIH researchers find potential genetic cause of Cushing syndrome Finding may lead to therapies that prevent ... mutations in the gene CABLES1 may lead to Cushing syndrome, a rare disorder in which the body ...

  12. Multiple organ dysfunction caused by parathyroid adenoma‑induced ...

    African Journals Online (AJOL)

    2013-04-21

    induced PHPT. Here, we describe a male patient with renal dysfunction, nephrolithiasis, bone disorders, and acute pancreatitis (AP) associated with hypercalcemia caused by parathyroid adenoma‑induced. PHPT. Case Report.

  13. Stereotactic surgery for eating disorders

    OpenAIRE

    Sun, Bomin; Liu, Wei

    2013-01-01

    Eating disorders (EDs) are a group of severely impaired eating behaviors, which include three subgroups: anorexia nervosa (AN), bulimia nervosa (BN), and ED not otherwise specified (EDNOS). The precise mechanism of EDs is still unclear and the disorders cause remarkable agony for the patients and their families. Although there are many available treatment methods for EDs today, such as family therapy, cognitive behavioral therapy, medication, psychotherapy, and so on, almost half of the patie...

  14. Movement disorders in mitochondrial disease.

    Science.gov (United States)

    Ghaoui, Roula; Sue, Carolyn M

    2018-01-06

    Mitochondrial disease presents with a wide spectrum of clinical manifestations that may appear at any age and cause multisystem dysfunction. A broad spectrum of movement disorders can manifest in mitochondrial diseases including ataxia, Parkinsonism, myoclonus, dystonia, choreoathetosis, spasticity, tremor, tic disorders and restless legs syndrome. There is marked heterogeneity of movement disorder phenotypes, even in patients with the same genetic mutation. Moreover, the advent of new technologies, such as next-generation sequencing, is likely to identify novel causative genes, expand the phenotype of known disease genes and improve the genetic diagnosis in these patients. Identification of the underlying genetic basis of the movement disorder is also a crucial step to allow for targeted therapies to be implemented as well as provide the basis for a better understanding of the molecular pathophysiology of the disease process. The aim of this review is to discuss the spectrum of movement disorders associated with mitochondrial disease.

  15. Erythema multiforme and related disorders.

    Science.gov (United States)

    Al-Johani, Khalid A; Fedele, Stefano; Porter, Stephen R

    2007-05-01

    Erythema multiforme (EM) and related disorders comprise a group of mucocutaneous disorders characterized by variable degrees of mucosal and cutaneous blistering and ulceration that occasionally can give rise to systemic upset and possibly compromise life. The clinical classification of these disorders has often been variable, thus making definitive diagnosis sometimes difficult. Despite being often caused by, or at least associated with, infection or drug therapy, the pathogenic mechanisms of these disorders remain unclear, and as a consequence, there are no evidence-based, reliably effective therapies. The present article reviews aspects of EM and related disorders of relevance to oral medicine clinical practice and highlights the associated potential etiologic agents, pathogenic mechanisms and therapies.

  16. Autoimmune encephalitis and sleep disorders

    Directory of Open Access Journals (Sweden)

    Yan HUANG

    2017-10-01

    Full Text Available Research shows that autoimmune encephalitis is associated with sleep disorders. Paraneoplastic neurological syndrome (PNS with Ma2 antibodies can cause sleep disorders, particularly narcolepsy and rapid eye movement sleep behavior disorder (RBD. Limbic encephalitis (LE and Morvan syndrome, associated with voltage - gated potassium channel (VGKC-complex antibodies, which include leucine-rich glioma-inactivated 1 (LGI1 antibody and contactin-associated protein 2 (Caspr2, can result in profound insomnia and other sleep disorders. Central neurogenic hypoventilation are found in patients with anti-N-methyl-D-aspartate (NMDA receptor encephalitis, whereas obstructive sleep apnea (OSA, stridor and parasomnia are prominent features of encephalopathy associated with IgLON5 antibodies. Sleep disorders are cardinal manifestations in patients with autoimmune encephalitis. Immunotherapy possiblely can improve clinical symptoms and prognosis in a positive way. DOI: 10.3969/j.issn.1672-6731.2017.10.004

  17. Classical endocrine diseases causing obesity.

    Science.gov (United States)

    Weaver, Jolanta U

    2008-01-01

    Obesity is associated with several endocrine diseases, including common ones such as hypothyroidism and polycystic ovarian syndrome to rare ones such as Cushing's syndrome, central hypothyroidism and hypothalamic disorders. The mechanisms for the development of obesity vary in according to the endocrine condition. Hypothyroidism is associated with accumulation of hyaluronic acid within various tissues, additional fluid retention due to reduced cardiac output and reduced thermogenesis. The pathophysiology of obesity associated with polycystic ovarian syndrome remains complex as obesity itself may simultaneously be the cause and the effect of the syndrome. Net excess of androgen appears to be pivotal in the development of central obesity. In Cushing's syndrome, an interaction with thyroid and growth hormones plays an important role in addition to an increased adipocyte differentiation and adipogenesis. This review also describes remaining rare cases: hypothalamic obesity due to central hypothyroidism and combined hormone deficiencies.

  18. Childhood obesity: causes and consequences

    Directory of Open Access Journals (Sweden)

    Krushnapriya Sahoo

    2015-01-01

    Full Text Available Childhood obesity has reached epidemic levels in developed as well as in developing countries. Overweight and obesity in childhood are known to have significant impact on both physical and psychological health. Overweight and obese children are likely to stay obese into adulthood and more likely to develop non-communicable diseases like diabetes and cardiovascular diseases at a younger age. The mechanism of obesity development is not fully understood and it is believed to be a disorder with multiple causes. Environmental factors, lifestyle preferences, and cultural environment play pivotal roles in the rising prevalence of obesity worldwide. In general, overweight and obesity are assumed to be the results of an increase in caloric and fat intake. On the other hand, there are supporting evidence that excessive sugar intake by soft drink, increased portion size, and steady decline in physical activity have been playing major roles in the rising rates of obesity all around the world. Childhood obesity can profoundly affect children′s physical health, social, and emotional well-being, and self esteem. It is also associated with poor academic performance and a lower quality of life experienced by the child. Many co-morbid conditions like metabolic, cardiovascular, orthopedic, neurological, hepatic, pulmonary, and renal disorders are also seen in association with childhood obesity.

  19. Childhood obesity: causes and consequences.

    Science.gov (United States)

    Sahoo, Krushnapriya; Sahoo, Bishnupriya; Choudhury, Ashok Kumar; Sofi, Nighat Yasin; Kumar, Raman; Bhadoria, Ajeet Singh

    2015-01-01

    Childhood obesity has reached epidemic levels in developed as well as in developing countries. Overweight and obesity in childhood are known to have significant impact on both physical and psychological health. Overweight and obese children are likely to stay obese into adulthood and more likely to develop non-communicable diseases like diabetes and cardiovascular diseases at a younger age. The mechanism of obesity development is not fully understood and it is believed to be a disorder with multiple causes. Environmental factors, lifestyle preferences, and cultural environment play pivotal roles in the rising prevalence of obesity worldwide. In general, overweight and obesity are assumed to be the results of an increase in caloric and fat intake. On the other hand, there are supporting evidence that excessive sugar intake by soft drink, increased portion size, and steady decline in physical activity have been playing major roles in the rising rates of obesity all around the world. Childhood obesity can profoundly affect children's physical health, social, and emotional well-being, and self esteem. It is also associated with poor academic performance and a lower quality of life experienced by the child. Many co-morbid conditions like metabolic, cardiovascular, orthopedic, neurological, hepatic, pulmonary, and renal disorders are also seen in association with childhood obesity.

  20. Types of Bipolar Disorder

    Science.gov (United States)

    ... Treatments and Therapies Join a Study Learn More Bipolar Disorder Overview Bipolar disorder, also known as manic-depressive ... known as major depressive disorder with mixed features. Bipolar Disorder and Other Illnesses Some bipolar disorder symptoms are ...

  1. Speech disorders - children

    Science.gov (United States)

    ... page: //medlineplus.gov/ency/article/001430.htm Speech disorders - children To use the sharing features on this page, ... Voice disorders Speech disorders are different from language disorders in children . Language disorders refer to someone having difficulty with: ...

  2. Language disorder - children

    Science.gov (United States)

    ... Delayed language; Specific developmental language disorder; SLI; Communication disorder - language disorder ... injury. These conditions are sometimes misdiagnosed as developmental disorders. Language disorders may occur in children with other developmental ...

  3. Any Personality Disorder

    Science.gov (United States)

    ... for Personality Disorders in Adults Data Sources Share Personality Disorders Definitions Personality disorders represent “an enduring pattern ... Topics page on Borderline Personality Disorder . Prevalence of Personality Disorders in Adults Based on diagnostic interview data ...

  4. Causes and effects.

    Science.gov (United States)

    Cone, Carol L; Feldman, Mark A; DaSilva, Alison T

    2003-07-01

    Most companies make charitable donations, but few approach their contributions with an eye toward enhancing their brands. Those that do take such an approach commit talent and know-how, not just dollars, to a pressing but carefully chosen social need and then tell the world about the cause and their service to it. Through the association, both the business and the cause benefit in ways they could not otherwise. Organizations such as Avon, ConAgra Foods, and Chevrolet have recognized that a sustained cause-branding program can improve their reputations, boost their employees' morale, strengthen relations with business partners, and drive sales. And the targeted causes receive far more money than they could have from direct corporate gifts alone. The authors examine these best practices and offer four principles for building successful cause-branding programs. First, they say, a company should select a cause that advances its corporate goals. That is, unless the competitive logic for supporting the cause is clear, a company shouldn't even consider putting its finite resources behind it. Second, a business should commit to a cause before picking its charitable partners. Otherwise, a cause-branding program may become too dependent on its partners. Third, a company should put all its assets to work, especially its employees. It should leverage the professional skills of its workers as well as its other assets such as distribution networks. And fourth, a company should promote its philanthropic initiatives through every possible channel. In addition to using the media, it should communicate its efforts through the Web, annual reports, direct mail, and so on. Cause branding is a way to turn the obligations of corporate citizenship into a valuable asset. When the cause is well chosen, the commitment genuine, and the program well executed, the cause helps the company, and the company helps the cause.

  5. Skeletal Muscle Na+ Channel Disorders

    Directory of Open Access Journals (Sweden)

    Dina eSimkin

    2011-10-01

    Full Text Available Five inherited human disorders affecting skeletal muscle contraction have been traced to mutations in the gene encoding the voltage-gated sodium channel Nav1.4. The main symptoms of these disorders are myotonia or periodic paralysis caused by changes in skeletal muscle fiber excitability. Symptoms of these disorders vary from mild or latent disease to incapacitating or even death in severe cases. As new human sodium channel mutations corresponding to disease states become discovered, the importance of understanding the role of the sodium channel in skeletal muscle function and disease state grows.

  6. Somatic Symptom Disorders in Children

    Directory of Open Access Journals (Sweden)

    Beena Johnson

    2017-04-01

    Full Text Available Physical symptoms without any identifiable structural or biochemical abnormalities on detailed clinical examination and investigations, are common in children. Some children may have persistent physical discomfort which can lead to debilitating impact on their academic and social functioning. These children seek repeated medical consultations and are usually subjected to unnecessary invasive diagnostic procedures. It is extremely important to understand that emotional factors can contribute to the development as well as maintenance of impairing physical symptoms. There is scientific evidence for the association of anxiety and functional somatic symptoms in children. The diagnostic category which was previously called somatoform disorders is now included in somatic symptom disorders. The main feature of the somatic symptom disorders is the excessive concern with somatic symptoms. Detailed clinical examination and investigations will not reveal any abnormalities to explain the symptoms. The somatic symptom disorders are common in childhood. Cognitive behavioural therapy by experts in child guidance, will relieve the somatic symptoms related to anxiety and stress. If not intervened at the earliest, the persistent physical symptoms associated with emotional stress will cause significant functional disability in childhood. Unnecessary invasive medical interventions cause more agony to the child. These children also have high risk for developing anxiety disorders and depressive disorders in young adulthood. Hence, early intervention using cognitive behavioural techniques should be provided to all children with somatic symptom disorders, which will definitely improve their quality of life.

  7. A diagnostic approach for cerebral palsy in the genomic era.

    Science.gov (United States)

    Lee, Ryan W; Poretti, Andrea; Cohen, Julie S; Levey, Eric; Gwynn, Hilary; Johnston, Michael V; Hoon, Alexander H; Fatemi, Ali

    2014-12-01

    An ongoing challenge in children presenting with motor delay/impairment early in life is to identify neurogenetic disorders with a clinical phenotype, which can be misdiagnosed as cerebral palsy (CP). To help distinguish patients in these two groups, conventional magnetic resonance imaging of the brain has been of great benefit in "unmasking" many of these genetic etiologies and has provided important clues to differential diagnosis in others. Recent advances in molecular genetics such as chromosomal microarray and next-generation sequencing have further revolutionized the understanding of etiology by more precisely classifying these disorders with a molecular cause. In this paper, we present a review of neurogenetic disorders masquerading as cerebral palsy evaluated at one institution. We have included representative case examples children presenting with dyskinetic, spastic, and ataxic phenotypes, with the intent to highlight the time-honored approach of using clinical tools of history and examination to focus the subsequent etiologic search with advanced neuroimaging modalities and molecular genetic tools. A precise diagnosis of these masqueraders and their differentiation from CP is important in terms of therapy, prognosis, and family counseling. In summary, this review serves as a continued call to remain vigilant for current and other to-be-discovered neurogenetic masqueraders of cerebral palsy, thereby optimizing care for patients and their families.

  8. Childhood Obesity Causes & Consequences

    Science.gov (United States)

    ... more about Healthy Weight—Finding a Balance Community Environment It can be difficult for children and parents to make healthy food choices and ... related quality of life with body composition in children and youth with obesity. Journal of Affective Disorders 2015;172:18–23. Halfon ...

  9. Bipolar disorder.

    Science.gov (United States)

    Goodwin, F K; Ghaemi, S N

    1999-06-01

    Bipolar disorder's unique combination of three characteristics - clear genetic diathesis, distinctive clinical features, early availability of an effective treatment (lithium) - explains its special place in the history of psychiatry and its contribution to the current explosive growth of neuroscience. This article looks at the state of the art in bipolar disorder from the vantage point of: (i) genetics (possible linkages on chromosomes 18 and 21q, polygenic hypothesis, research into genetic markers); (ii) diagnosis (new focus on the subjective aspects of bipolar disorder to offset the current trend of underdiagnosis due to overreliance on standardized interviews and rating scales); (iii) outcome (increase in treatment-resistant forms signaling a change in the natural history of bipolar disorder); (iv) pathophysiology (research into circadian biological rhythms and the kindling hypothesis to explain recurrence); (v) treatment (emergence of the anticonvulsants, suggested role of chronic antidepressant treatment in the development of treatment resistance); (vi) neurobiology (evaluation of regulatory function in relation to affective disturbances, role of postsynaptic second-messenger mechanisms, advances in functional neuroimaging); and (vii) psychosocial research (shedding overly dualistic theories of the past to understand the mind and brain as an entity, thus emphasizing the importance of balancing the psychopharmacological and psychotherapeutic approaches). Future progress in the understanding and treatment of bipolar disorder will rely on successful integration of the biological and psychosocial lines of investigation.

  10. Ataxia, Dementia, and Hypogonadotropism Caused by Disordered Ubiquitination

    DEFF Research Database (Denmark)

    Margolin, David H.; Kousi, Maria; Chan, Yee-Ming

    2013-01-01

    The combination of ataxia and hypogonadism was first described more than a century ago, but its genetic basis has remained elusive. METHODS We performed whole-exome sequencing in a patient with ataxia and hypogonadotropic hypogonadism, followed by targeted sequencing of candidate genes in similarly...... in zebrafish embryos induced defects in the eye, optic tectum, and cerebellum; combinatorial suppression of both genes exacerbated these phenotypes, which were rescued by nonmutant, but not mutant, human RNF216 or OTUD4 messenger RNA. All patients had progressive ataxia and dementia. Neuronal loss was observed...... in cerebellar pathways and the hippocampus; surviving hippocampal neurons contained ubiquitin-immunoreactive intranuclear inclusions. Defects were detected at the hypothalamic and pituitary levels of the reproductive endocrine axis. CONCLUSIONS The syndrome of hypogonadotropic hypogonadism, ataxia, and dementia...

  11. Hypoactive sexual desire disorder caused by antiepileptic drugs

    Directory of Open Access Journals (Sweden)

    M Singh

    2015-01-01

    Full Text Available Female sexual dysfunction is common but poorly understood sexual problem in women. Sexual dysfunction in female is multi-factorial in origin and also observed with intake of drug acting on central nervous system. This case report describes a female epileptic patient who developed sexual dysfunction with intake of antiepileptic drugs.

  12. Rare cause of post-squalene disorder of cholesterol biosynthesis ...

    African Journals Online (AJOL)

    The differential diagnosis of a typical findings on the skin with spontaneous regression ichtyosiform erythroderma, craniofacial dysmorphic features, anomalies of organs or skeletal abnormalities in a newborn may ... Key words: newborn; hypocholesterolemia; stigma; chondrodysplasia punctata; ichthyosiform erythroderma ...

  13. Sleep Disorders

    DEFF Research Database (Denmark)

    Rahbek Kornum, Birgitte; Mignot, Emmanuel

    2014-01-01

    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......Mammalian sleep has evolved under the influence of the day-night cycle and in response to reproductive needs, food seeking, and predator avoidance, resulting in circadian (predictive) and homeostatic (reactive) regulation. A molecular clock characterized by transcription/translation feedback loops...... 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...

  14. Disordered photonics

    Science.gov (United States)

    Wiersma, Diederik S.

    2013-03-01

    What do lotus flowers have in common with human bones, liquid crystals with colloidal suspensions, and white beetles with the beautiful stones of the Taj Mahal? The answer is they all feature disordered structures that strongly scatter light, in which light waves entering the material are scattered several times before exiting in random directions. These randomly distributed rays interfere with each other, leading to interesting, and sometimes unexpected, physical phenomena. This Review describes the physics behind the optical properties of disordered structures and how knowledge of multiple light scattering can be used to develop new applications. The field of disordered photonics has grown immensely over the past decade, ranging from investigations into fundamental topics such as Anderson localization and other transport phenomena, to applications in imaging, random lasing and solar energy.

  15. What causes education?

    DEFF Research Database (Denmark)

    Hyldgaard, Kirsten

    2017-01-01

    Why do universities not give priority to education? The article suggests a formal answer on the basis of Lacan’s four discourses. Why education? Why do we learn? Is it caused by a natural curiosity or is it caused by anxiety? Is it at all possible to control the influence that we undoubtedly have...

  16. What Causes Heart Block?

    Science.gov (United States)

    ... defects. Acquired heart block is more common than congenital heart block. Damage to the heart muscle or its electrical system causes acquired heart block. Diseases, surgery, or medicines can cause this damage. The three types of heart block are first degree, second degree, ...

  17. 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,…

  18. 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

  19. 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.

  20. Sudden death in eating disorders

    Directory of Open Access Journals (Sweden)

    Jáuregui-Garrido B

    2012-02-01

    Full Text Available Beatriz Jáuregui-Garrido1, Ignacio Jáuregui-Lobera2,31Department of Cardiology, University Hospital Virgen del Rocío, 2Behavioral Sciences Institute, 3Pablo de Olavide University, Seville, SpainAbstract: Eating disorders are usually associated with an increased risk of premature death with a wide range of rates and causes of mortality. “Sudden death” has been defined as the abrupt and unexpected occurrence of fatality for which no satisfactory explanation of the cause can be ascertained. In many cases of sudden death, autopsies do not clarify the main cause. Cardiovascular complications are usually involved in these deaths. The purpose of this review was to report an update of the existing literature data on the main findings with respect to sudden death in eating disorders by means of a search conducted in PubMed. The most relevant conclusion of this review seems to be that the main causes of sudden death in eating disorders are those related to cardiovascular complications. The predictive value of the increased QT interval dispersion as a marker of sudden acute ventricular arrhythmia and death has been demonstrated. Eating disorder patients with severe cardiovascular symptoms should be hospitalized. In general, with respect to sudden death in eating disorders, some findings (eg, long-term eating disorders, chronic hypokalemia, chronically low plasma albumin, and QT intervals >600 milliseconds must be taken into account, and it must be highlighted that during refeeding, the adverse effects of hypophosphatemia include cardiac failure. Monitoring vital signs and performing electrocardiograms and serial measurements of plasma potassium are relevant during the treatment of eating disorder patients.Keywords: sudden death, cardiovascular complications, refeeding syndrome, QT interval, hypokalemia

  1. Adjustment disorder: current perspectives

    Directory of Open Access Journals (Sweden)

    Zelviene P

    2018-01-01

    Full Text Available Paulina Zelviene, Evaldas Kazlauskas Department of Clinical and Organizational Psychology, Vilnius University, Vilnius, Lithuania Abstract: Adjustment disorder (AjD is among the most often diagnosed mental disorders in clinical practice. This paper reviews current status of AjD research and discusses scientific and clinical issues associated with AjD. AjD has been included in diagnostic classifications for over 50 years. Still, the diagnostic criteria for AjD remain vague and cause difficulties to mental health professionals. Controversies in definition resulted in the lack of reliable and valid measures of AjD. Epidemiological data on prevalence of AjD is scarce and not reliable because prevalence data are biased by the diagnostic algorithm, which is usually developed for each study, as no established diagnostic standards for AjD are available. Considerable changes in the field of AjD could follow after the release of the 11th edition of International Classification of Diseases (ICD-11. A new AjD symptom profile was introduced in ICD-11 with 2 main symptoms as follows: 1 preoccupation and 2 failure to adapt. However, differences between the Diagnostic and Statistical Manual of Mental Disorders, Fifth Edition and ICD-11 AjD diagnostic criteria could result in diverse research findings in the future. The best treatment approach for AjD remains unclear, and further treatment studies are needed to provide AjD treatment guidelines to clinicians. Keywords: adjustment disorder, review, diagnosis, prevalence, treatment, DSM, ICD

  2. Identification of Developmental and Behavioral Markers Associated With Genetic Abnormalities in Autism Spectrum Disorder.

    Science.gov (United States)

    Bishop, Somer L; Farmer, Cristan; Bal, Vanessa; Robinson, Elise B; Willsey, A Jeremy; Werling, Donna M; Havdahl, Karoline Alexandra; Sanders, Stephan J; Thurm, Audrey

    2017-06-01

    Aside from features associated with risk of neurogenetic syndromes in general (e.g., cognitive impairment), limited progress has been made in identifying phenotype-genotype relationships in autism spectrum disorder (ASD). The objective of this study was to extend work in the Simons Simplex Collection by comparing the phenotypic profiles of ASD probands with or without identified de novo loss of function mutations or copy number variants in high-confidence ASD-associated genes or loci. Analyses preemptively accounted for documented differences in sex and IQ in affected individuals with de novo mutations by matching probands with and without these genetic events on sex, IQ, and age before comparing them on multiple behavioral domains. Children with de novo mutations (N=112) had a greater likelihood of motor delay during early development (later age at walking), but they were less impaired on certain measures of ASD core symptoms (parent-rated social communication abnormalities and clinician-rated diagnostic certainty about ASD) in later childhood. These children also showed relative strengths in verbal and language abilities, including a smaller discrepancy between nonverbal and verbal IQ and a greater likelihood of having achieved fluent language (i.e., regular use of complex sentences). Children with ASD with de novo mutations may exhibit a "muted" symptom profile with respect to social communication and language deficits relative to those with ASD with no identified genetic abnormalities. Such findings suggest that examining early milestone differences and standardized testing results may be helpful in etiologic efforts, and potentially in clinical differentiation of various subtypes of ASD, but only if developmental and demographic variables are properly accounted for first.

  3. Essential thrombocythemia: Rare cause of chorea

    Directory of Open Access Journals (Sweden)

    Eswaradass Prasanna Venkatesan

    2014-01-01

    Full Text Available Essential thrombocythemia (ET is a clonal myeloproliferative disorder (MPD, characterized predominantly by a markedly elevated platelet count without known cause. It is rare hematological disorder. In ET clinical picture is dominated by a predisposition to vascular occlusive events and hemorrhages. Headache, transient ischemic attack, stroke, visual disturbances and light headedness are some of the neurological manifestations of ET. Here, we describe a 55 year-old female who presented to us with generalized chorea. On evaluation, she was found to have thrombocytosis. After ruling out the secondary causes of thrombocytosis and other MPD we confirmed diagnosis of ET in her by bone marrow studies. Polycythemia vera (PV another MPD closely related to ET may be present with generalized chorea. There are few case reports of PV presenting as chorea in the literature, but none with ET. We report the first case of ET presenting as generalized chorea.

  4. Increased mortality among people with anxiety disorders

    DEFF Research Database (Denmark)

    Meier, Sandra M; Mattheisen, Manuel; Mors, Ole

    2016-01-01

    . The risk of death by natural and unnatural causes was significantly higher among individuals with anxiety disorders (natural mortality rate ratio (MRR) = 1.39, 95% CI 1.28-1.51; unnatural MRR = 2.46, 95% CI 2.20-2.73) compared with the general population. Of those who died from unnatural causes, 16.5% had......BACKGROUND: Anxiety disorders and depression are the most common mental disorders worldwide and have a striking impact on global disease burden. Although depression has consistently been found to increase mortality; the role of anxiety disorders in predicting mortality risk is unclear. AIMS......: To assess mortality risk in people with anxiety disorders. METHOD: We used nationwide Danish register data to conduct a prospective cohort study with over 30 million person-years of follow-up. RESULTS: In total, 1066 (2.1%) people with anxiety disorders died during an average follow-up of 9.7 years...

  5. 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…

  6. 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.

  7. Thoracic causes of acute abdominal pain

    Energy Technology Data Exchange (ETDEWEB)

    Breda Vriesman, Adriaan C. van; Smithuis, Robin H.M. [Rijnland Hospital, Department of Radiology, Leiderdorp (Netherlands); Puylaert, Julien B.C.M. [MCH Westeinde Hospital, Department of Radiology, The Hague (Netherlands)

    2010-06-15

    The origin of abdominal pain may be extra-abdominal, caused by a thoracic illness. This article illustrates the various thoracic disorders that may present with acute abdominal pain. An erroneous focus on the abdomen alone can easily lead to misdiagnosis and incorrect treatment. In cases of unexplained acute abdominal pain, radiologists should be aware of also viewing beyond the borders of the abdomen. The key to most of these thoracic diagnoses is detection of pulmonary consolidation, pleural fluid or pericardial fluid. (orig.)

  8. Neuro-Sweet Disease Causing Orbital Inflammation.

    Science.gov (United States)

    Taravati, Parisa

    2015-02-01

    Neuro-Sweet disease is a rare condition causing encephalitis or meningitis in addition to the erythematous skin plaques of Sweet syndrome. Neuro-Sweet disease has been associated with several ocular manifestations, including ocular movement disorders, episcleritis, conjunctivitis, uveitis, and optic disc oedema. The author reports a patient with orbital inflammation, cranial neuropathies, and a skin rash in the setting of myelodysplastic syndrome. Biopsy of her skin lesion confirmed the diagnosis of neuro-Sweet disease. To the author's knowledge, this is the first reported case of neuro-Sweet disease causing orbital inflammation. Her ocular inflammation resolved with the use of systemic corticosteroid treatment.

  9. Chronic musculoskeletal ankle disorders in Sri Lanka.

    Science.gov (United States)

    Weerasekara, Ishanka; Hiller, Claire E

    2017-05-25

    Musculoskeletal disorders of the lower extremities are commonly affected by chronicity and disability. One of the most commonly affected areas is the ankle. Epidemiological information is limited for chronic musculoskeletal ankle disorders in the general community, particularly in the developing world. This study aimed to determine the prevalence and impact of chronic musculoskeletal ankle disorders in the Sri Lankan community. A cross-sectional stratified random sample of people (n = 1000) aged 18 to 85 years in Sri Lanka was undertaken by questionnaire in the general community setting. Of those questionnaires, 827 participants provided data. Point prevalence for no history of ankle injury or ankle disorders, history of ankle injuries without chronic ankle disorders, and chronic ankle disorders were obtained. Point prevalence of chronic musculoskeletal disorders and causes for chronicity was evaluated. There were 448 (54.2%) participants with no ankle disorders, 164 (19.8%) with a history of ankle injury but no chronic disorders, and 215 (26.0%) with chronic ankle disorders. The major component of chronic ankle disorders was musculoskeletal disorders (n = 113, 13.7% of the total sample), most of which were due to ankle injury (n = 80, 9.7% of the total). Sprains were responsible for 17.7% of the total ankle injuries. Arthritis was the other main cause for chronicity of ankle disorders with 4% of total participants (n = 33). Almost 14% of the Sri Lankan community was affected by chronic musculoskeletal ankle disorders. The majority were due to a previous ankle injury, and arthritis. Most people had to limit or change their physical activity because of the chronic ankle disorder. A very low utility of physiotherapy services was observed.

  10. Hypercalcemic Disorders in Children

    DEFF Research Database (Denmark)

    Stokes, Victoria J; Nielsen, Morten F; Hannan, Fadil M

    2017-01-01

    Hypercalcemia is defined as a serum calcium concentration that is greater than 2 standard deviations above the normal mean, which in children may vary with age and sex, reflecting changes in the normal physiology at each developmental stage. Hypercalcemic disorders in children may present......-independent hypercalcemia in children include hypervitaminosis; granulomatous disorders and endocrinopathies. Congenital syndromes associated with PTH-independent hypercalcemia include idiopathic infantile hypercalcemia (IIH); William's syndrome; and inborn errors of metabolism. PTH-dependent hypercalcemia is usually...... with hypotonia, poor feeding, vomiting, constipation, abdominal pain, lethargy, polyuria, dehydration, failure to thrive and seizures. In severe cases renal failure, pancreatitis and reduced consciousness may also occur and older children and adolescents may present with psychiatric symptoms. The causes...

  11. Autoinflammatory bone disorders.

    Science.gov (United States)

    Morbach, Henner; Hedrich, Christian M; Beer, Meinrad; Girschick, Hermann J

    2013-06-01

    Autoinflammatory bone disorders are characterized by chronic non-infectious osteomyelitis and inflammation-induced bone resorption and result from aberrant activation of the innate immune system. Sporadic chronic non-bacterial osteomyelitis (CNO) is the most common disease subtype. The clinical picture is highly variable and the exact underlying pathophysiology remains to be determined. Recently, novel insights in the pathophysiology of sterile bone inflammation have been gathered by analyzing patients with rare, monogenic inflammatory diseases. In this overview CNO and Majeed syndrome, cherubism, hypophosphatasia and primary hypertrophic osteoarthropathy will be discussed. For the latter four disorders, a genetic cause affecting bone metabolism and leading to chronic bone inflammation has been described. The exact pathophysiology of CNO remains to be determined. Insights from monogenic autoinflammatory bone diseases and the identification of distinct inflammatory pathways may help to understand the pathogenesis of bone inflammation and inflammation-induced bone resorption in more common diseases. Copyright © 2012 Elsevier Inc. All rights reserved.

  12. What Causes Respiratory Failure?

    Science.gov (United States)

    ... Research Home / Respiratory Failure Respiratory Failure What Is Respiratory (RES-pih-rah-tor- ... injure your lungs. Normal Lungs and Conditions Causing Respiratory Failure Figure A shows the location of the ...

  13. What causes bone loss?

    Science.gov (United States)

    ... of bone loss. For men, a drop in testosterone as they age can cause bone loss. Your ... Wisse, MD, Associate Professor of Medicine, Division of Metabolism, Endocrinology & Nutrition, University of Washington School of Medicine, ...

  14. EAMJ March -Causes

    African Journals Online (AJOL)

    iMac User

    2008-03-01

    Mar 1, 2008 ... emotions; determination, control and environment manipulation (1). Given this ... assist in managing long-term effects of the injuries. Understanding the .... In Ireland, falls (15%) and sports (15%) were the leading causes, while ...

  15. Causes of Diabetes

    Science.gov (United States)

    ... for fighting infection, attacks and destroys the insulin -producing beta cells of the pancreas . Scientists think type ... of diabetes—is caused by several factors, including lifestyle factors and genes. Overweight, obesity, and physical inactivity ...

  16. What Causes Heart Failure?

    Science.gov (United States)

    ... Intramural Research Home / Heart Failure Heart Failure Also known as Congestive heart failure What ... diseases for many years that led to heart failure. Heart failure is a leading cause of hospital stays ...

  17. What Causes SIDS?

    Science.gov (United States)

    ... Look Like? How Can Caregivers Create a Safe Sleep Environment? Babies Need Tummy Time! FAQs Myths and Facts Printer-Friendly Email Page Skip sharing on social media links What Causes SIDS? Page Content We don’ ...

  18. Dyslexia: Causes, Symptoms, Definition.

    Science.gov (United States)

    Shannon, Albert J.

    1986-01-01

    The article reviews proposed causes and observable symptoms that characterize dyslexia, concluding that individualized analysis and specialized treatments are required and that, until an operational definition can be agreed upon, use of the label "dyslexia" is counterproductive. (DB)

  19. CT and MRI of dementia disorders

    Energy Technology Data Exchange (ETDEWEB)

    Momoshima, Suketaka; Fujiwara, Hirokazu [Keio Univ., Tokyo (Japan). School of Medicine

    2002-06-01

    Imaging diagnosis plays a critical role in the initial evaluation of dementia disorders despite its limited specificity. The two major causes of dementia are neurodegenerative disorders including Alzheimer disease and diffuse vascular disorders, some of which show characteristic findings on CT and MRI. Although effective treatment is not yet available for most of these entities, there is possibility that early diagnosis by imaging could lead to preventive measures in future. Some illustrative cases of dementia diseases are demonstrated. (author)

  20. Causes of Child Abuse

    Directory of Open Access Journals (Sweden)

    S. Erhan Deveci

    2003-08-01

    Full Text Available Child abuse is an important public health problem that is present almost in every society and environment at different level and intensities. For implementation of child abuse protection measures it is necessary to investigate its causes. In this review, causes of child abuse was attempted to investigate with respects to the society and institution, family and individual and child related factors. [Archives Medical Review Journal 2003; 12(4.000: 396-405