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https://www.readbyqxmd.com/read/29780755/ovarian-teratoma-associated-anti-n-methyl-d-aspartate-receptor-encephalitis-a-difficult-diagnosis-with-a-favorable-prognosis
#1
Ananya Datta Mitra, Alaa Afify
Anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis is a recently described auto-immune and paraneoplastic encephalitis with prominent neuropsychiatric manifestations affecting young adults with ovarian teratoma. The availability of a novel assay to measure these antibodies might suggest an etiology for this potentially life-threatening disease, which if early recognized can be treated promptly with surgery with chances of a good clinical outcome. Reported prognostic indicators for a good outcome depend on the presence of a tumor, prompt treatment and no admission to an intensive care unit...
April 2018: Autopsy & Case Reports
https://www.readbyqxmd.com/read/29777584/neuropsychiatric-expression-and-catatonia-in-22q11-2-deletion-syndrome-an-overview-and-case-series
#2
Nancy J Butcher, Erik Boot, Anthony E Lang, Danielle Andrade, Jacob Vorstman, Donna McDonald-McGinn, Anne S Bassett
Individuals with 22q11.2 deletion syndrome (22q11.2DS) are at elevated risk of developing treatable psychiatric and neurological disorders, including anxiety disorders, schizophrenia, seizures, and movement disorders, often beginning in adolescence or early to mid-adulthood. Here, we provide an overview of neuropsychiatric features associated with 22q11.2DS in adulthood. Results of a new case series of 13 individuals with 22q11.2DS and catatonic features together with 5 previously reported cases support a potential association of this serious psychomotor phenotype with the 22q11...
May 19, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29770363/the-multifaceted-clinical-presentation-of-vcp-proteinopathy-in-a-greek-family
#3
George K Papadimas, George P Paraskevas, Thomas Zambelis, Chrisostomos Karagiaouris, Mara Bourbouli, Anastasia Bougea, Maggie C Walter, Nicolas U Schumacher, Sabine Krause, Elisabeth Kapaki
VCP-proteinopathy is a multisystem neurodegenerative disorder caused by mutations in valosin containing protein. Here, we report the first Greek case of VCP-proteinopathy in a 62 year old patient with a slowly progressing muscular weakness since his mid-40s and a severe deterioration during the last year. He also manifested dementia with prominent neuropsychiatric symptoms, including aggression, apathy, palilalia and obsessions. Brain MRI revealed frontal atrophy, while muscle MRI showed diffuse muscle atrophy...
December 2017: Acta Myologica: Myopathies and Cardiomyopathies: Official Journal of the Mediterranean Society of Myology
https://www.readbyqxmd.com/read/29761093/functional-characterization-of-novel-atp7b-variants-for-diagnosis-of-wilson-disease
#4
Sarah Guttmann, Friedrich Bernick, Magdalena Naorniakowska, Ulf Michgehl, Sara Reinartz Groba, Piotr Socha, Andree Zibert, Hartmut H Schmidt
Background: Diagnosis of rare Wilson disease (WD) in pediatric patients is difficult, in particular when hepatic manifestation is absent. Genetic analysis of ATP7B represents the single major determinant of the diagnostic scoring system in WD children having mild symptoms. Objectives: To assess the impact of molecularly expressed ATP7B gene products in order to assist diagnosis of Wilson disease in pediatric patients having a novel mutation and subtle neuropsychiatric disease. Methods: The medical history, clinical presentation, biochemical parameters, and the genetic analysis of ATP7B were determined...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29759891/the-putative-role-of-oxidative-stress-and-inflammation-in-the-pathophysiology-of-sleep-dysfunction-across-neuropsychiatric-disorders-focus-on-chronic-fatigue-syndrome-bipolar-disorder-and-multiple-sclerosis
#5
REVIEW
Gerwyn Morris, Brendon Stubbs, Cristiano A Köhler, Ken Walder, Anastasiya Slyepchenko, Michael Berk, André F Carvalho
Sleep and circadian abnormalities are prevalent and burdensome manifestations of diverse neuro-immune diseases, and may aggravate the course of several neuropsychiatric disorders. The underlying pathophysiology of sleep abnormalities across neuropsychiatric disorders remains unclear, and may involve the inter-play of several clinical variables and mechanistic pathways. In this review, we propose a heuristic framework in which reciprocal interactions of immune, oxidative and nitrosative stress, and mitochondrial pathways may drive sleep abnormalities across potentially neuroprogressive disorders...
April 4, 2018: Sleep Medicine Reviews
https://www.readbyqxmd.com/read/29759049/klinefelter-s-syndrome-with-lupus-encephalitis-and-retroperitoneal-teratoma
#6
C Ng Wq, S E Eide, Huang J, Khor Ym
We report a case of a middle-aged male who presented with pyrexia of unknown origin, oral ulcers, rash and bicytopenia. His past medical history included unexplained proteinuria, infertility and joint pain. Initial workup showed a large retroperitoneal soft tissue mass, which has appeared stable for 10 years. He subsequently developed neuropsychiatric symptoms with imaging findings of meningoencephalitis. Concurrent investigations showed elevated ANA, anti-double-stranded DNA (dsDNA) and ESR levels, as well as low complement levels...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29755900/fahr-s-disease-a-differential-to-be-considered-for-various-neuropsychiatric-presentations
#7
Seyedmohammad Pourshahid, Mohammad Nour Salloum, Mohanad Elfishawi, Mohamed Barakat, Mohammed Basith
Fahr's disease, also known as familial idiopathic basal ganglia calcification, is a neurodegenerative disorder affecting cerebral microvessels, mainly the basal ganglia, and presenting with diverse neuropsychiatric manifestations. It is considered to be mainly hereditary, with autosomal dominant inheritance. In light of its various presentations and incomplete penetrance, Fahr's disease is known to be underestimated and underdiagnosed. Here, an early-onset case of Fahr's disease is presented mainly with pure psychiatric symptoms...
March 11, 2018: Curēus
https://www.readbyqxmd.com/read/29755395/early-onset-creutzfeldt-jakob-disease-mimicking-immune-mediated-encephalitis
#8
Wietse A Wiels, Stephanie Du Four, Laura Seynaeve, Anja Flamez, Thomas Tousseyn, Dietmar Thal, Miguel D'Haeseleer
Objectives: The objective of this study is to explore the clinical, radiological, and pathological manifestations of a rare subtype of prion disease and their implication for differential diagnosis in case of an early onset neuropsychiatric deterioration. Methods: We discuss a patients' clinical history, as well as the string of investigations and symptomatological evolution that finally led to a pathological diagnosis. Results: Our patient had the extremely rare VV1 type sporadic Creutzfeldt-Jakob disease (sCJD)...
2018: Frontiers in Neurology
https://www.readbyqxmd.com/read/29752299/anniversary-review-50-years-since-the-discovery-of-bromocriptine
#9
Michael O Thorner
Ergotism is the long term ergot poisoning by ingestion of rye or other grains infected with the fungus Claviceps purpurea and more recently by excessive intake of ergot drugs. It has either neuropsychiatric or vascular manifestations. In the Middle Ages the gangrenous poisoning was known as St Anthony's fire, after the order of the Monks of St Anthony who were particularly skilled at treating the condition. In 1917, Professor Arthur Stoll returned home to Switzerland from Germany, to lead the development of a new pharmaceutical department at Sandoz Chemical Company...
May 11, 2018: European Journal of Endocrinology
https://www.readbyqxmd.com/read/29705852/the-mrl-model-a-valuable-tool-in-studies-of-autoimmunity-brain-interactions
#10
Boris Šakić
The link between systemic autoimmunity, brain pathology, and aberrant behavior is still a largely unexplored field of biomedical science. Accumulating evidence points to causal relationships between immune factors, neurodegeneration, and neuropsychiatric manifestations. By documenting autoimmunity-associated neuronal degeneration and cytotoxicity of the cerebrospinal fluid from disease-affected subjects, the murine MRL model had shown high validity in revealing principal pathogenic circuits. In addition, unlike any other autoimmune strain, MRL mice produce antibodies commonly found in patients suffering from lupus and other autoimmune disorders...
2018: Methods in Molecular Biology
https://www.readbyqxmd.com/read/29704671/apathy-in-alzheimer-s-disease-and-frontotemporal-dementia-distinct-clinical-profiles-and-neural-correlates
#11
Fiona Kumfor, Alice Zhen, John R Hodges, Olivier Piguet, Muireann Irish
OBJECTIVE: Apathy is the most prevalent and disabling non-cognitive symptom of dementia and affects 90% of patients across the disease course. Despite its pervasiveness, how apathy manifests across dementia syndromes and the neurobiological mechanisms driving these symptoms are poorly understood. Here, we applied the multidimensional ABC model of apathy, which recognizes Affective, Behavioural and Cognitive apathy, in Alzheimer's disease (AD) and behavioural-variant frontotemporal dementia (bvFTD)...
March 29, 2018: Cortex; a Journal Devoted to the Study of the Nervous System and Behavior
https://www.readbyqxmd.com/read/29688144/prevalence-risk-factors-and-impact-on-mortality-of-neuropsychiatric-lupus-a-prospective-single-center-study
#12
G Y Ahn, D Kim, S Won, S T Song, H-J Jeong, I-W Sohn, S Lee, Y B Joo, S-C Bae
Objective The objective of this paper is to identify the prevalence, risk factors, and impact on mortality of neuropsychiatric systemic lupus erythematosus (NPSLE). Methods Patients from the Hanyang BAE lupus cohort were registered and followed from 1998 to 2015. NPSLE was defined using American College of Rheumatology (ACR) case definitions and Ainiala criteria. Demographics, autoantibodies, Systemic Lupus Erythematosus Disease Activity Index (SLEDAI), and Systemic Lupus International Collaborating Clinic (SLICC)/ACR Damage Index were collected at baseline and then annually...
January 1, 2018: Lupus
https://www.readbyqxmd.com/read/29687724/huntington-s-disease-managing-neuropsychiatric-symptoms-in-huntington-s-disease
#13
Samantha M Loi, Mark Walterfang, Dennis Velakoulis, Jeffrey Cl Looi
OBJECTIVES: This clinical update review focuses on the management of the neuropsychiatric manifestations of Huntington's disease (HD). The review highlights current issues regarding pharmacological and non-pharmacological treatment, putative therapeutics and recent relevant research findings in this area. CONCLUSIONS: Neuropsychiatric symptoms may precede the classic motor clinical symptoms of HD (prodromal HD) by decades and cause significant functional impairment...
April 1, 2018: Australasian Psychiatry: Bulletin of Royal Australian and New Zealand College of Psychiatrists
https://www.readbyqxmd.com/read/29687346/long-term-cognitive-outcomes-after-sepsis-a-translational-systematic-review
#14
REVIEW
Tatiana Barichello, Pavani Sayana, Vijayasree V Giridharan, Anithachristy S Arumanayagam, Boomadevi Narendran, Amanda Della Giustina, Fabricia Petronilho, João Quevedo, Felipe Dal-Pizzol
Sepsis is systemic inflammatory response syndrome with a life-threatening organ dysfunction that is caused by an unbalanced host immune response in an attempt to eliminate invasive microorganisms. We posed questions, "Does sepsis survivor patients have increased risk of neuropsychiatric manifestations?" and "What is the mechanism by which sepsis induces long-term neurological sequelae, particularly substantial cognitive function decline in survivor patients and in pre-clinical sepsis models?" The studies were identified by searching PubMed/MEDLINE (National Library of Medicine), PsycINFO, EMBASE (Ovid), LILACS (Latin American and Caribbean Health Sciences Literature), IBECS (Bibliographical Index in Spanish in Health Sciences), and Web of Science databases for peer-reviewed journals that were published until January 2018...
April 23, 2018: Molecular Neurobiology
https://www.readbyqxmd.com/read/29678162/tacrolimus-induced-parkinsonism-in-a-patient-after-liver-transplantation-case-report
#15
Karin Gmitterová, Michal Minár, Miroslav Žigrai, Zuzana Košutzká, Alice Kušnírová, Peter Valkovič
BACKGROUND: Hepatic encephalopathy may manifest by a wide spectrum of neuropsychiatric symptoms, including cognitive impairment, seizures or extrapyramidal symptoms. The liver transplant can lead to improvement of the signs of encephalopathy but subsequent immunosuppressive treatment might possess pronounced neurotoxicity. CASE PRESENTATION: We present a case report of a patient with chronic liver disease who developed signs of Parkinsonism after an orthotopic liver transplant, with consecutive immunosuppressant treatment with tacrolimus...
April 20, 2018: BMC Neurology
https://www.readbyqxmd.com/read/29672931/x-linked-ichthyosis-clinical-and-molecular-findings-in-35-italian-patients
#16
Andrea Diociaiuti, Adriano Angioni, Elisa Pisaneschi, Viola Alesi, Giovanna Zambruno, Antonio Novelli, May El Hachem
Recessive X-linked ichthyosis (XLI), the second most common ichthyosis, is caused by mutations in the STS gene encoding the steroid sulfatase enzyme. A complete deletion of the STS gene is found in 85-90% of cases. Rarely, larger deletions involving contiguous genes are detected in syndromic patients. We report the clinical and molecular genetic findings in a series of 35 consecutive Italian male patients. All patients underwent molecular testing by MLPA or aCGH, followed, in case of negative results, by next generation sequencing analysis...
April 19, 2018: Experimental Dermatology
https://www.readbyqxmd.com/read/29671499/poststreptococcal-illness-recognition-and-management
#17
David L Maness, Michael Martin, Gregg Mitchell
Group A beta-hemolytic streptococcus can cause several postinfectious, nonsuppurative immune- mediated diseases including acute rheumatic fever, poststreptococcal reactive arthritis, pediatric autoimmune neuropsychiatric disorders, and poststreptococcal glomerulonephritis. Except for sporadic outbreaks, poststreptococcal autoimmune syndromes occur most commonly in sub-Saharan Africa, India, Australia, and New Zealand. Children younger than three years are rarely affected by group A streptococcus pharyngitis or rheumatic fever, and usually do not require testing...
April 15, 2018: American Family Physician
https://www.readbyqxmd.com/read/29669989/chronic-manganese-toxicity-associated-with-voltage-gated-potassium-channel-complex-antibodies-in-a-relapsing-neuropsychiatric-disorder
#18
Cyrus S H Ho, Roger C M Ho, Amy M L Quek
Heavy metal poisoning is a rare but important cause of encephalopathy. Manganese (Mn) toxicity is especially rare in the modern world, and clinicians’ lack of recognition of its neuropsychiatric manifestations can lead to misdiagnosis and mismanagement. We describe the case of a man who presented with recurrent episodes of confusion, psychosis, dystonic limb movement and cognitive impairment and was initially diagnosed with anti-voltage-gated potassium channel (VGKC) complex limbic encephalitis in view of previous positive autoantibodies...
April 18, 2018: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/29662944/combined-blockade-of-interleukin-1%C3%AE-and-1%C3%AE-signaling-protects-mice-from-cognitive-dysfunction-after-traumatic-brain-injury
#19
Elizabeth A Newell, Brittany P Todd, Jolonda Mahoney, Andrew A Pieper, Polly J Ferguson, Alexander G Bassuk
Diffuse activation of interleukin-1 inflammatory cytokine signaling after traumatic brain injury (TBI) elicits progressive neurodegeneration and neuropsychiatric dysfunction, and thus represents a potential opportunity for therapeutic intervention. Although interleukin (IL)-1α and IL-1β both activate the common type 1 IL-1 receptor (IL-1RI), they manifest distinct injury-specific roles in some models of neurodegeneration. Despite its potential relevance to treating patients with TBI, however, the individual contributions of IL-1α and IL-1β to TBI-pathology have not been previously investigated...
March 2018: ENeuro
https://www.readbyqxmd.com/read/29652661/combined-brain-and-heart-magnetic-resonance-imaging-in-systemic-vasculitides-fiction-or-real-need
#20
REVIEW
Sophie I Mavrogeni, George Kitas, Hildo J Lamb, Klearchos Psychoyios, Theodoros Dimitroulas, Loukia Koutsogeorgopoulou, Kyriaki Boki, Vasiliki Vartela, Genovefa Kolovou, George Markousis-Mavrogenis, Cees G Kallenberg, Loic Guillevin, Dimitrios Vassilopoulos
Systemic vasculitides (SVs) is a group of diseases characterised by inflammation/necrosis of the blood vessel wall in various organs. Simultaneous brain and heart involvement is a cause of increased morbidity/mortality in SV. We aimed to present evidence of concurrent brain/heart involvement in SV and the role of a combined brain/heart magnetic resonance imaging (MRI) in their risk stratification. Cerebral vasculitis (CV) can be presented as focal deficits, seizures, headache, neuropsychiatric manifestations or cognitive dysfunction and cardiovascular disease (CVD) as myocardial/vascular inflammation, perfusion/function defects and fibrosis...
April 10, 2018: Clinical and Experimental Rheumatology
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