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https://www.readbyqxmd.com/read/29238291/modulation-of-neocortical-development-by-early-neuronal-activity-physiology-and-pathophysiology
#1
REVIEW
Sergei Kirischuk, Anne Sinning, Oriane Blanquie, Jenq-Wei Yang, Heiko J Luhmann, Werner Kilb
Animal and human studies revealed that patterned neuronal activity is an inherent feature of developing nervous systems. This review summarizes our current knowledge about the mechanisms generating early electrical activity patterns and their impact on structural and functional development of the cerebral cortex. All neocortical areas display distinct spontaneous and sensory-driven neuronal activity patterns already at early phases of development. At embryonic stages, intermittent spontaneous activity is synchronized within small neuronal networks, becoming more complex with further development...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/29226310/long-term-behavioural-outcomes-after-paediatric-convulsive-status-epilepticus-a-population-based-cohort-study
#2
Marina M Martinos, Suresh Pujar, Christopher Gillberg, Mario Cortina-Borja, Brian G R Neville, Michelle De Haan, Rod C Scott, Richard F M Chin
AIM: To describe behavioural and psychiatric outcomes of children within 10 years of convulsive status epilepticus (CSE). METHOD: Children originally identified by the population-based North London Convulsive Status Epilepticus in Childhood Surveillance Study were followed-up between July 2009 and February 2013. They were grouped into epilepsy- and non-epilepsy-related CSE, and compared with population norms and healthy controls using the Strengths and Difficulties Questionnaire; the Autism Spectrum Screening Questionnaire; and the Swanson, Nolan, and Pelham questionnaire...
December 10, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/29225671/tourette-syndrome-and-other-neurodevelopmental-disorders-a-comprehensive-review
#3
REVIEW
Elena Cravedi, Emmanuelle Deniau, Marianna Giannitelli, Jean Xavier, Andreas Hartmann, David Cohen
Gilles de la Tourette syndrome (TS) is a complex developmental neuropsychiatric condition in which motor manifestations are often accompanied by comorbid conditions that impact the patient's quality of life. In the DSM-5, TS belongs to the "neurodevelopmental disorders" group, together with other neurodevelopmental conditions, frequently co-occurring. In this study, we searched the PubMed database using a combination of keywords associating TS and all neurodevelopmental diagnoses. From 1009 original reports, we identified 36 studies addressing TS and neurodevelopmental comorbidities...
2017: Child and Adolescent Psychiatry and Mental Health
https://www.readbyqxmd.com/read/29201025/regulation-of-neuroinflammation-what-role-for-the-tumor-necrosis-factor-like-weak-inducer-of-apoptosis-fn14-pathway
#4
REVIEW
Audrey Boulamery, Sophie Desplat-Jégo
Observed in many central nervous system diseases, neuroinflammation (NI) proceeds from peripheral immune cell infiltration into the parenchyma, from cytokine secretion and from oxidative stress. Astrocytes and microglia also get activated and proliferate. NI manifestations and consequences depend on its context and on the acute or chronic aspect of the disease. The tumor necrosis factor-like weak inducer of apoptosis (TWEAK)/Fn14 pathway has been involved in chronic human inflammatory pathologies such as neurodegenerative, autoimmune, or malignant diseases...
2017: Frontiers in Immunology
https://www.readbyqxmd.com/read/29166635/the-protean-neuropsychiatric-and-vestibuloauditory-manifestations-of-neurosarcoidosis
#5
Jacqueline J Greene, Ilka C Naumann, Janet M Poulik, Kevin T Nella, Lindsay Weberling, Jeffrey P Harris, Akihiro J Matsuoka
BACKGROUND: A rare subset of sarcoidosis, neurosarcoidosis, is reported to occur in 5-7% of sarcoid patients and can manifest in a variety of ways. The most common are facial paralysis and optic neuritis, less commonly causing cochleovestibulopathy, blindness, anosmia, and other cranial nerve (CN) palsies. The sensory deficit may be severe and psychiatric symptoms may result from the effects of the disease or steroid treatment. Although MRI-compatible cochlear implants are now available, concerns about the feasibility of recoverable hearing with cochlear implantation in these patients as well as the practical difficulty of disease monitoring due to implant artifact must be considered...
November 23, 2017: Audiology & Neuro-otology
https://www.readbyqxmd.com/read/29163739/obsessive-compulsive-disorder-in-a-19-year-old-female-adolescent-with-turner-syndrome
#6
Surinder S Moonga, Aaron Pinkhasov, Deepan Singh
Obsessive-compulsive disorder (OCD) in patients with Turner syndrome (TS) is an uncommon neuropsychiatric presentation that has not been well characterized in the scientific literature. Though no clear psychiatric component is syndromic to TS, the clinical manifestations of certain neuropsychiatric disorders, including mood, anxiety and eating disorders, have all been well documented in patients with TS. However, the presence of OCD in these patients has not been previously described. This report details a 19-year-old TS patient who presented with OCD since the age of 13, comorbid with several other psychiatric pathologies, including bipolar I disorder, anorexia nervosa and attention deficit hyperactivity disorder (ADHD)...
December 2017: Journal of Clinical Medicine Research
https://www.readbyqxmd.com/read/29162406/novel-anti-suprabasin-antibodies-may-contribute-to-the-pathogenesis-of-neuropsychiatric-systemic-lupus-erythematosus
#7
Kunihiro Ichinose, Kaname Ohyama, Kaori Furukawa, Osamu Higuchi, Akihiro Mukaino, Katsuya Satoh, Shunya Nakane, Toshimasa Shimizu, Masataka Umeda, Shoichi Fukui, Ayako Nishino, Hideki Nakajima, Tomohiro Koga, Shin-Ya Kawashiri, Naoki Iwamoto, Mami Tamai, Hideki Nakamura, Tomoki Origuchi, Mari Yoshida, Naotaka Kuroda, Atsushi Kawakami
Neuropsychiatric systemic lupus erythematosus (NPSLE) is often difficult to diagnose and distinguish from other diseases, because no NPSLE-specific antibodies have been identified. We developed a novel proteomic strategy for identifying and profiling antigens in immune complexes in the cerebrospinal fluid (CSF), and applied this strategy to 26 NPSLE patients. As controls, we also included 25 SLE patients without neuropsychiatric manifestations (SLE), 15 with relapsing remitting multiple sclerosis (MS) and 10 with normal pressure hydrocephalus (NPH)...
November 18, 2017: Clinical Immunology: the Official Journal of the Clinical Immunology Society
https://www.readbyqxmd.com/read/29157500/unraveling-diagnostic-uncertainty-surrounding-lyme-disease-in-children-with-neuropsychiatric-illness
#8
REVIEW
Michael P Koster, Aris Garro
Lyme disease is endemic in parts of the United States, including New England, the Atlantic seaboard, and Great Lakes region. The presentation has various manifestations, many of which can mimic psychiatric diseases in children. Distinguishing manifestations of Lyme disease from those of psychiatric illnesses is complicated by inexact diagnostic tests and misuse of these tests when they are not clinically indicated. This article aims to describe manifestations of Lyme disease in children with an emphasis on Lyme neuroborreliosis...
January 2018: Child and Adolescent Psychiatric Clinics of North America
https://www.readbyqxmd.com/read/29147139/insights-into-the-management-of-wilson-s-disease
#9
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
#10
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
#11
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
#12
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
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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