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https://www.readbyqxmd.com/read/29147139/insights-into-the-management-of-wilson-s-disease
#1
REVIEW
Mohmadshakil Kathawala, Gideon M Hirschfield
Wilson's disease is a rare, inherited autosomal recessive disease of copper metabolism, in which the causative gene, ATP7B, results in absent or reduced function of the ATP7B transporter important for biliary excretion of copper and incorporation of copper into caeruloplasmin. Affected patients accumulate excessive copper within the liver, brain and other tissues. A disease mainly of children, adolescents and young adults; clinical features vary from the asymptomatic state to chronic liver disease, acute liver failure, and neuropsychiatric manifestations...
November 2017: Therapeutic Advances in Gastroenterology
https://www.readbyqxmd.com/read/29142187/an-atp2a2-missense-mutation-in-a-japanese-family-with-darier-disease-a-case-report-and-review-of-the-japanese-darier-disease-patients-with-atp2a2-mutations
#2
Min Li, Naoyuki Higashi, Hajime Nakano, Hidehisa Saeki
Darier disease (DD) is a rare autosomal dominant skin disorder due to mutations in the ATP2A2 gene, which encodes sarco/endoplasmic reticulum Ca(2+) ATPase isoform 2 (SERCA2). The clinical manifestations of DD are characterized by warty papules and plaques in seborrheic areas, and association with neuropsychiatric abnormalities has also been reported in a few families with DD. We herein report a classic Japanese DD case with a previously described mutation (p.C560R) in ATP2A2. In Japan, 26 mutations in the ATP2A2 gene in 7 pedigrees and 19 sporadic cases with DD have been reported, among which one pedigree and one sporadic case were accompanied by neuropsychiatric symptoms...
2017: Journal of Nippon Medical School, Nippon Ika Daigaku Zasshi
https://www.readbyqxmd.com/read/29141377/-the-clinical-significance-of-anti-ubiquitin-c-terminal-hydrolase-l1-autoantibodies-in-the-diagnosis-of-neuropsychiatric-systemic-lupus-erythematosus
#3
Y Meng, H Sun, J J Xu, R Li, Y Wang
Objective: To analyze the clinical significance of anti- ubiquitin C-terminal hydrolase L1(UCHL-1)autoantibodies in neuropsychiatric systemic lupus erythematosus (NPSLE). Methods: Autoantibodies in cerebrospinal fluid specimen of 56 inpatients were detected by using indirect enzyme-linked immunosorbent assay (ELISA) and the fullmedical history and clinical manifestations were analyzed retrospectively. Results: The levels of anti-UCHL-1 autoantibodies in NPSLE group were significant higher than that in other controls (P<0...
November 14, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/29129521/diffusion-tensor-imaging-and-magnetic-resonance-spectroscopy-in-a-patient-with-adult-onset-tuberous-sclerosis-complex
#4
Hidehiro Ishikawa, Atsushi Niwa, Masaru Asahi, Keita Matsuura, Satoshi Masuzugawa, Yo Niida, Masayuki Maeda, Mineo Kondo, Hidekazu Tomimoto
Tuberous sclerosis complex (TSC) 1 or TSC2 is mutated in most TSC patients. TSC2 mutations are more frequently associated with worse outcomes, earlier age at seizure onset, more severe intellectual disability, and higher tuber load than TSC1. The degree of white matter involvement is thought to be associated with the severity of neurological impairment. At present, genotype-phenotype correlations and relationship between tuber burden and neurological disability in TSC are debatable. We presented a 43-year-old patient with TSC2 mutation, whose symptom was only incomplete quadrantic visual field deficit in spite of multiple brain tubers...
November 9, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29129316/functional-consequences-of-chrna7-copy-number-alterations-in-induced-pluripotent-stem-cells-and-neural-progenitor-cells
#5
Madelyn A Gillentine, Jiani Yin, Aleksandar Bajic, Ping Zhang, Steven Cummock, Jean J Kim, Christian P Schaaf
Copy-number variants (CNVs) of chromosome 15q13.3 manifest clinically as neuropsychiatric disorders with variable expressivity. CHRNA7, encoding for the α7 nicotinic acetylcholine receptor (nAChR), has been suggested as a candidate gene for the phenotypes observed. Here, we used induced pluripotent stem cells (iPSCs) and neural progenitor cells (NPCs) derived from individuals with heterozygous 15q13.3 deletions and heterozygous 15q13.3 duplications to investigate the CHRNA7-dependent molecular consequences of the respective CNVs...
November 4, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29127758/-physical-activity-the-holy-grail-of-modern-medicine
#6
Vladimír Tuka, Martina Daňková, Karel Riegel, Martin Matoulek
Movement is the basic attribute of life. It is not surprising that the return to regular physical activity is a very effective and cheap means of preventing and treating most non-cummunicable diseases. Therefore, every physician should be able to prescribe a suitable physical activity. The minimum amount of physical activity with proven effects in primary prevention of chronic diseases is relatively low: 150 minutes of moderate physical activity or 75 minutes of high intensity exercise per week or a combination of the two...
2017: Vnitr̆ní Lékar̆ství
https://www.readbyqxmd.com/read/29114104/bidirectional-regulation-of-aggression-in-mice-by-hippocampal-alpha-7-nicotinic-acetylcholine-receptors
#7
Alan S Lewis, Steven T Pittenger, Yann S Mineur, Dawson Stout, Philip H Smith, Marina R Picciotto
Humans with 15q13.3 microdeletion syndrome (15q13.3DS) are typically hemizygous for CHRNA7, the gene coding for the α7 nicotinic acetylcholine receptor (nAChR), and manifest a variable neuropsychiatric phenotype that frequently includes persistent aggression. In mice, nAChR activation by nicotine is anti-aggressive, or 'serenic', an effect which requires α7 nAChRs and is recapitulated by GTS-21, an α7 nAChR partial agonist. Pharmacotherapies potentiating α7 nAChR signaling have also been shown to reduce aggression in human 15q13...
November 7, 2017: Neuropsychopharmacology: Official Publication of the American College of Neuropsychopharmacology
https://www.readbyqxmd.com/read/29108821/brain-diffusion-tensor-mri-in-systematic-lupus-erythematosus-a-systematic-review
#8
REVIEW
Beatriz Lavras Costallat, Daniel Miranda Ferreira, Aline Tamires Lapa, Letícia Rittner, Lilian Tereza Lavras Costallat, Simone Appenzeller
Diffusion tensor imaging (DTI) maps the brain's microstructure by measuring fractional anisotropy (FA) and mean diffusivity (MD). This systematic review describes brain diffusion tensor Magnetic resonance imaging (MRI) studies in systemic lupus erythematosus (SLE).The literature was reviewed following the PRISMA guidelines and using the terms "lupus", "systemic lupus erythematosus", "SLE", "diffusion tensor imaging", "DTI", "white matter" (WM), "microstructural damage", "tractography", and "fractional anisotropy"; the search included articles published in English from January 2007 to April 2017...
November 3, 2017: Autoimmunity Reviews
https://www.readbyqxmd.com/read/29103181/brain-magnetic-resonance-imaging-cerebrospinal-fluid-and-autoantibody-profile-in-118-patients-with-neuropsychiatric-lupus
#9
Zhen Tan, Yingbo Zhou, Xiangpei Li, Guosheng Wang, Jinhui Tao, Li Wang, Yan Ma, Xiaomei Li
The objective of this study is to analyze clinical manifestations, features of imaging, and laboratory assessment of patients with neuropsychiatric SLE (NPSLE) for better diagnosis and outcome prediction. One hundred eighteen NPSLE patients admitted to the Anhui Provincial Hospital in Hefei, China, between January 2006 and December 2016 were enrolled and analyzed retrospectively. All patients fulfilled the American College of Rheumatology revised classification criteria for SLE. Patients with NPSLE fulfilled the American College of Rheumatology (ACR) nomenclature and case definitions...
November 4, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/29073635/huntington-s-disease-premotor-phase
#10
Ana Rita Saldanha Ramos, Carolina Garrett
Huntington's disease (HD) is an incurable, neurodegenerative disease, which manifests via a triad of progressive symptoms: motor impairment, psychiatric disorders, and cognitive decline. Conventionally, the HD diagnosis is based on the presence of involuntary choreiform movements and a positive genetic test for the CAG-expanded allele gene. Although the diagnosis focuses on the motor part of the triad, there is increasing evidence that both cognitive and neuropsychiatric symptoms can, and often do, present decades before the onset of motor symptoms...
October 27, 2017: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29073246/increased-serum-anti-n-methyl-d-aspartate-receptor-antibody-immunofluorescence-in-psychiatric-patients-with-past-catatonia
#11
Chin-Chuen Lin, Yi-Yung Hung, Meng-Chang Tsai, Tiao-Lai Huang
OBJECTIVE: Anti-N-methyl-D-aspartate receptor (NMDAR) antibody was thought to be the cause of anti-NMDAR encephalitis, with manifestations similar to catatonia and schizophrenia. Anti-NMDAR antibody in neuropsychiatric patients who had catatonia before were investigated in a follow-up evaluation. The intensity of antibody immunofluorescence was quantified and compared with healthy controls. METHOD: Nineteen patients (eight males and eleven females) agreed to be followed-up...
2017: PloS One
https://www.readbyqxmd.com/read/29064807/-central-nervous-system-involvement-in-systemic-lupus-erythematosus-diagnosis-and-therapy
#12
Magdalena Szmyrka
Nervous system involvement in lupus belongs to its severe complications and significantly impacts its prognosis. Neuropsychiatric lupus includes 19 disease manifestations concerning both central and peripheral nervous system. This paper presents clinical aspects of central nervous system involvement in lupus. It reviews its epidemiology, risk factors and principles of diagnosis and therapy.
2017: Wiadomości Lekarskie: Organ Polskiego Towarzystwa Lekarskiego
https://www.readbyqxmd.com/read/29061240/central-nervous-system-manifestations-of-systemic-lupus-erythematosus
#13
REVIEW
Kashif Jafri, Sarah L Patterson, Cristina Lanata
Neuropsychiatric systemic lupus erythematosus (NPSLE) encompasses a variety of phenomena. Manifestations are focal or diffuse, and correlate with disease mechanisms. Recent understanding of the contribution of blood-brain barrier dysfunction to the passage of circulating antineuronal antibodies into the brain parenchyma has shed light on pathogenesis. Correct attribution of neuropsychiatric manifestations to SLE remains a challenge, but validated attribution models will help. Diagnosis relies on characteristic clinical manifestations, SLE disease activity, antibody measurements, cerebrospinal fluid findings, specific neuroimaging findings, and exclusion of alternative etiologies...
November 2017: Rheumatic Diseases Clinics of North America
https://www.readbyqxmd.com/read/29053771/the-cerebellum-in-alzheimer-s-disease-evaluating-its-role-in-cognitive-decline
#14
Heidi I L Jacobs, David A Hopkins, Helen C Mayrhofer, Emiliano Bruner, Fred W van Leeuwen, Wijnand Raaijmakers, Jeremy D Schmahmann
The cerebellum has long been regarded as essential only for the coordination of voluntary motor activity and motor learning. Anatomical, clinical and neuroimaging studies have led to a paradigm shift in the understanding of the cerebellar role in nervous system function, demonstrating that the cerebellum appears integral also to the modulation of cognition and emotion. The search to understand the cerebellar contribution to cognitive processing has increased interest in exploring the role of the cerebellum in neurodegenerative and neuropsychiatric disorders...
July 28, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29044699/diabetic-striatopathy-manifesting-as-severe-consciousness-disturbance-with-no-involuntary-movements
#15
Hiroki Sato, Makoto Hamano, Etsuko Fushimi, Toshiaki Takahashi, Yohei Horikawa, Satoru Horiguchi
BACKGROUND: Diabetic striatopathy, one of the complications of diabetes mellitus, is characterized by involuntary movements, including hemichorea and hemiballismus, and the presence of hyperintense lesions on T1-weighted magnetic resonance imaging of the striatum. CASE REPORT: We present a case of diabetic striatopathy manifesting as severe consciousness disturbance without chorea or ballismus. A 58-year-old man was admitted to our hospital in a state of unconsciousness...
October 17, 2017: Diabetic Medicine: a Journal of the British Diabetic Association
https://www.readbyqxmd.com/read/29037338/-the-many-faces-of-orbitofrontal-syndrome
#16
Jose Fernando Muñoz Zúñiga
Orbitofrontal syndrome is a neuropsychiatric syndrome composed of cognitive, affective and behavioural symptoms, disrupting some of the traits that define us as a species, like cognitive flexibility and affective regulation. In order to effectively treat the condition, the clinician needs to be familiar with both the functional neuroanatomy and the neuropsychiatric semiology of the syndrome. A review of the literature is presented, emphasising the broad spectrum of clinical manifestations of the syndrome, together with three clinical vignettes showing the many faces of the syndrome...
October 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/29037335/-catatonia-and-delirium-syndromes-that-may-converge-in-the-neuropsychiatric-patient
#17
Andrés Felipe Pérez-González, Mariana Espinola-Nadurille, Jesús Ramírez-Bermúdez
INTRODUCTION: Catatonia and delirium are two different and independent syndromes. Catatonia is a psychomotor syndrome associated with a variety of diseases of different medical causes and is characterised by lack of activity, induction of passive postures against gravity, opposition or absence of response to external stimuli, waxy flexibility, stereotypies, mannerisms and echophenomena. Delirium is characterised by consciousness and cognitive alterations, mainly attention and orientation and usually of acute onset, which tend to fluctuate during the day and with evidence that the alteration is a direct physiological consequence of a disease, intoxication or substance withdrawal...
October 2017: Revista Colombiana de Psiquiatría
https://www.readbyqxmd.com/read/29033027/anhedonia-following-early-life-adversity-involves-aberrant-interaction-of-reward-and-anxiety-circuits-and-is-reversed-by-partial-silencing-of-amygdala-corticotropin-releasing-hormone-gene
#18
Jessica L Bolton, Jenny Molet, Limor Regev, Yuncai Chen, Neggy Rismanchi, Elizabeth Haddad, Derek Z Yang, Andre Obenaus, Tallie Z Baram
BACKGROUND: Anhedonia, the diminished ability to experience pleasure, is an important dimensional entity linked to depression, schizophrenia, and other emotional disorders, but its origins and mechanisms are poorly understood. We have previously identified anhedonia, manifest as decreased sucrose preference and social play, in adolescent male rats that experienced chronic early-life adversity/stress (CES). Here we probed the molecular, cellular, and circuit processes underlying CES-induced anhedonia and tested them mechanistically...
September 7, 2017: Biological Psychiatry
https://www.readbyqxmd.com/read/29031496/ischemic-stroke-in-a-patient-with-parry-romberg-syndrome
#19
Victoria Ebiana, Sandeep Singh, Shaweta Khosa, Negar Moheb, Bhavesh Trikamji, Neal M Rao, Shri K Mishra
OBJECTIVE: This study aimed to discuss a case of a patient with a known diagnosis of Parry-Romberg syndrome (PRS) presenting with ischemic stroke, the second such reported case. BACKGROUND: PRS is a rare genetic disorder with progressive hemifacial atrophy, which usually presents within the first 2 decades of life. Neurologic manifestations include trigeminal neuralgia with associated deafness, hemifacial pain with associated migraine headaches, seizures, movement disorders, and neuropsychiatric symptoms...
October 11, 2017: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
https://www.readbyqxmd.com/read/29017626/case-series-of-mild-behavioral-impairment-toward-an-understanding-of-the-early-stages-of-neurodegenerative-diseases-affecting-behavior-and-cognition
#20
Alicja Cieslak, Eric E Smith, John Lysack, Zahinoor Ismail
Mild behavioral impairment (MBI) is characterized by later life acquired, sustained, and impactful neuropsychiatric symptoms (NPS) of any severity that cannot be better accounted for by other formal medical and psychiatric nosology. MBI is an "at risk" state for incident cognitive decline and dementia, and for some, MBI is the index manifestation of neurodegeneration, observed in advance of cognitive impairment. Initially described in Frontotemporal Dementia (FTD), MBI evolved to describe a preclinical stage of all cause dementia, and has been operationalized in the International Society to Advance Alzheimer's Research and Treatment-Alzheimer's Association (ISTAART-AA) proposed research diagnostic criteria...
October 11, 2017: International Psychogeriatrics
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