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https://www.readbyqxmd.com/read/28099631/associations-of-cerebrovascular-metabolism-genotypes-with-neuropsychiatric-symptoms-and-age-at-onset-of-alzheimer-s-disease-dementia
#1
Fabricio F de Oliveira, Elizabeth S Chen, Marilia C Smith, Paulo H Bertolucci
Objective: To study associations of cerebrovascular metabolism genotypes and haplotypes with age at Alzheimer's disease dementia (AD) onset and with neuropsychiatric symptoms according to each dementia stage. Methods: Consecutive outpatients with late-onset AD were assessed for age at dementia onset and Neuropsychiatric Inventory scores according to Clinical Dementia Rating scores, apolipoprotein E gene (APOE) haplotypes, angiotensin-converting enzyme gene (ACE) variants rs1800764 and rs4291, low-density lipoprotein cholesterol receptor gene (LDLR) variants rs11669576 and rs5930, cholesteryl ester transfer protein gene (CETP) variants I422V and TaqIB, and liver X receptor beta gene (NR1H2) polymorphism rs2695121...
January 12, 2017: Revista Brasileira de Psiquiatria
https://www.readbyqxmd.com/read/28093577/epigenetic-research-in-neuropsychiatric-disorders-the-tissue-issue
#2
Kelly M Bakulski, Alycia Halladay, Valerie W Hu, Jonathan Mill, M Daniele Fallin
PURPOSE OF REVIEW: Evidence has linked neuropsychiatric disorders with epigenetic marks as either a biomarker of disease, biomarker of exposure, or mechanism of disease processes. Neuropsychiatric epidemiologic studies using either target brain tissue or surrogate blood tissue each have methodological challenges and distinct advantages. RECENT FINDINGS: Brain tissue studies are challenged by small sample sizes of cases and controls, incomplete phenotyping, post-mortem timing, and cellular heterogeneity, but the use of a primary disease relevant tissue is critical...
September 2016: Current Behavioral Neuroscience Reports
https://www.readbyqxmd.com/read/28073810/cognitive-behavioural-therapy-for-non-motor-symptoms-of-parkinson-s-disease-a-clinical-review
#3
Ivan Koychev, David Okai
Neuropsychiatric symptoms are common in Parkinson's disease (PD) and have a disproportionate impact on quality of life and carer burden. Pharmacological treatment is the main approach in dealing with these symptoms, but it is limited by variable efficacy and risk of drug interactions. Non-pharmacological approaches using the cognitive-behavioural therapy (CBT) model are viable alternatives and in this review paper we summarise the evidence of CBT for three of the most common psychiatric manifestations of PD: depression and anxiety, impulse-control disorders and insomnia...
January 10, 2017: Evidence-based Mental Health
https://www.readbyqxmd.com/read/28061969/role-of-nitric-oxide-in-stress-induced-anxiety-from-pathophysiology-to-therapeutic-target
#4
A Kumar, P Chanana
Stress is often marked by a state of hyperarousal to aid the initiation of necessary stress response for the successful management of stressful stimuli. It can be manifested as a challenge (stimulus) that requires behavioral, psychological, and physiological adaptations for the maintenance of a state of homeostasis in response to stressful stimuli. In an organism, miscellaneous stressors trigger a wide spectrum of alterations in hormonal and neuronal physiologies, resulting in behavioral (anxiety and depression disorders, diminished food intake and gastrointestinal dysfunctions, decline in sexual behavior, diabetes, and loss of cognitive function) and other physiological responses...
2017: Vitamins and Hormones
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#5
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28051833/cognitive-benefits-of-exercise-intervention
#6
T Archer, S Ricci, F Massoni, L Ricci, M Rapp-Ricciardi
Exercise, as a potent epigenetic regulator, implies the potential to counteract pathophysiological processes and alterations in most cardiovascular/respiratory cells and tissues not withstanding a paucity of understanding the underlying molecular mechanisms and doseresponse relationships. In the present account, the assets accruing from physical exercise and its influence upon executive functioning are examined. Under conditions of neuropsychiatric and neurologic ill-health, age-related deterioration of functional and biomarker indicators during healthy and disordered trajectories, neuroimmune and affective unbalance, and epigenetic pressures, exercise offers a large harvest of augmentations in health and well-being...
November 2016: La Clinica Terapeutica
https://www.readbyqxmd.com/read/28045139/chrna7-deficient-mice-manifest-no-consistent-neuropsychiatric-and-behavioral-phenotypes
#7
Jiani Yin, Wu Chen, Hongxing Yang, Mingshan Xue, Christian P Schaaf
The alpha7 nicotinic acetylcholine receptor, encoded by the CHRNA7 gene, has been implicated in various psychiatric and behavioral disorders, including schizophrenia, bipolar disorder, epilepsy, autism, Alzheimer's disease, and Parkinson's disease, and is considered a potential target for therapeutic intervention. 15q13.3 microdeletion syndrome is a rare genetic disorder, caused by submicroscopic deletions on chromosome 15q. CHRNA7 is the only gene in this locus that has been deleted entirely in cases involving the smallest microdeletions...
January 3, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28028157/brain-histopathology-in-patients-with-systemic-lupus-erythematosus-identification-of-lesions-associated-with-clinical-neuropsychiatric-lupus-syndromes-and-the-role-of-complement
#8
Daniëlle Cohen, Emilie C Rijnink, Rob J A Nabuurs, Gerda M Steup-Beekman, Maarten J Versluis, Bart J Emmer, Malu Zandbergen, Mark A van Buchem, Cornelia F Allaart, Ron Wolterbeek, Jan A Bruijn, Sjoerd G van Duinen, Tom W J Huizinga, Ingeborg M Bajema
OBJECTIVES: Neuropsychiatric (NP) involvement is a poorly understood manifestation of SLE. We studied post-mortem histopathology in relation to clinical NPSLE syndromes and complement deposition in brains of NPSLE and SLE patients and controls. Furthermore, we investigated the correlation between cerebral post-mortem histopathology and ex vivo 7 T MRI findings in SLE and NPSLE. METHODS: A nationwide search for autopsy material yielded brain tissue from 16 NPSLE and 18 SLE patients...
January 2017: Rheumatology
https://www.readbyqxmd.com/read/28027543/ionizing-radiation-brain-effects-and-related-neuropsychiatric-manifestations
#9
D Marazziti, A Piccinni, F Mucci, S Baroni, K Loganovsky, T Loganovskaja
Recently, an increasing interest has been directed towards the investigation of brain effects of ionizing radiation (IR), as it is now evident that, depending on the doses, the damages character and severity, as well as clinical man ifestations are different. They are generally considered to be the result of a blending of atherosclerotic, cardiovas cular, cerebrovascular and neurodegenerative processes. Further, an ongoing debate has been opened on the pos sible brain abnormalities following medical radiation from X ray in interventional radiology and nuclear medicine procedures that would involve both patients and medical workers...
December 2016: Problemy Radiat︠s︡iĭnoï Medyt︠s︡yny Ta Radiobiolohiï
https://www.readbyqxmd.com/read/28017600/ulk1-protects-against-ethanol-induced-neuronal-stress-and-cognition-related-behavioral-deficits
#10
Akiko Sumitomo, Keisho Ueta, Sayaka Mauchi, Kazuko Hirai, Kouta Horike, Takatoshi Hikida, Takeshi Sakurai, Akira Sawa, Toshifumi Tomoda
Alcoholism is a psychiatric condition that develops through neuroadaptations in response to neuronal stresses caused by chronic ethanol intake. Neurons can adapt to ethanol-induced metabolic changes by activating cellular protective mechanisms, including autophagy. Here we show that expression of Ulk1, a gene critical to the regulation of autophagy, was affected in the prefrontal cortex (PFC) of mice following chronic intermittent ethanol (CIE) exposure. Consequently, overall levels of Ulk1 activity in the PFC were downregulated, leading to accumulation of p62, a protein that serves as a target for autophagic degradation...
December 23, 2016: Neuroscience Research
https://www.readbyqxmd.com/read/28017516/inappropriate-sexual-behaviors-among-community-dwelling-patients-with-dementia
#11
Marco Canevelli, Flaminia Lucchini, Carlo Garofalo, Giuseppina Talarico, Alessandro Trebbastoni, Fabrizia D'Antonio, Letizia Imbriano, Patrizia Velotti, Carlo de Lena, Marina Gasparini, Giuseppe Bruno
OBJECTIVE: Inappropriate sexual behaviors (ISBs) represent challenging and stressful manifestations of dementia and are highly burdening for patients, families, and healthcare providers. Nevertheless, ISBs have so far attracted limited clinical and scientific interest compared with other neuropsychiatric symptoms occurring in dementing illnesses. The authors aimed to systematically investigate the prevalence and characteristics of ISBs in a population of patients with dementia attending a memory clinic...
December 2, 2016: American Journal of Geriatric Psychiatry
https://www.readbyqxmd.com/read/28007998/pathological-glutamatergic-neurotransmission-in-gilles-de-la-tourette-syndrome
#12
Ahmad Seif Kanaan, Sarah Gerasch, Isabel García-García, Leonie Lampe, André Pampel, Alfred Anwander, Jamie Near, Harald E Möller, Kirsten Müller-Vahl
Gilles de la Tourette syndrome is a hereditary, neuropsychiatric movement disorder with reported abnormalities in the neurotransmission of dopamine and γ-aminobutyric acid (GABA). Spatially focalized alterations in excitatory, inhibitory and modulatory neurochemical ratios within specific functional subdivisions of the basal ganglia, may lead to the expression of diverse motor and non-motor features as manifested in Gilles de la Tourette syndrome. Current treatment strategies are often unsatisfactory thus provoking the need for further elucidation of the underlying pathophysiology...
January 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28004629/manifestations-of-tuberous-sclerosis-complex-the-experience-of-a-provincial-clinic
#13
Colin Wilbur, Chinnuwat Sanguansermsri, Hedi Chable, Mihaela Anghelina, Sharon Peinhof, Kelly Anderson, Paul Steinbok, Ash Singhal, Anita Datta, Mary B Connolly
BACKGROUND: Tuberous sclerosis complex (TSC) is a neurocutaneous disorder with a wide spectrum of manifestations. Recent consensus recommendations stress the importance of multidisciplinary management of children with TSC. The objective of this study was to examine the manifestations of TSC at a large referral centre to determine the care needs of this population. METHODS: A retrospective, systematic chart review was performed of children with TSC managed at British Columbia Children's Hospital...
January 2017: Canadian Journal of Neurological Sciences. le Journal Canadien des Sciences Neurologiques
https://www.readbyqxmd.com/read/28003827/when-the-patient-believes-that-the-organs-are-destroyed-manifestation-of-cotard-s-syndrome
#14
Leonardo Machado, Luiz Evandro de Lima Filho, Liliane Machado
Cotard's Syndrome (CS) is a rare clinical event described for the first time in 1880 by the neurologist and psychiatrist Jules Cotard and characterized by negation delusions (or nihilists). Immortality and hypochondriac delusions are also typical. Nowadays, it is known that CS can be associated with many neuropsychiatric conditions. In this article, we describe the case of a patient that believed not having more organs and having the body deformed and whose CS was associated with a bigger depressive disorder...
2016: Case Reports in Medicine
https://www.readbyqxmd.com/read/27995424/fragile-x-premutation-in-women-recognizing-the-health-challenges-beyond-primary-ovarian-insufficiency
#15
REVIEW
Luis R Hoyos, Mili Thakur
Fragile X premutation carriers have 55-200 CGG repeats in the 5' untranslated region of the FMR1 gene. Women with this premutation face many physical and emotional challenges in their life. Approximately 20% of these women will develop fragile X-associated primary ovarian insufficiency (FXPOI). In addition, they suffer from increased rates of menstrual dysfunction, diminished ovarian reserve, reduction in age of menopause, infertility, dizygotic twinning, and risk of having an offspring with a premutation or full mutation...
December 19, 2016: Journal of Assisted Reproduction and Genetics
https://www.readbyqxmd.com/read/27992002/neuropsychiatric-lupus-in-clinical-practice
#16
Helena Alessi, Lívia Almeida Dutra, Pedro Braga, José Luiz Pedroso, Fabio F Toso, Cristiane Kayser, Orlando G P Barsottini
Systemic lupus erythematosus (SLE) is a chronic autoimmune disease involving multiple organs, characterized by the production of autoantibodies and the development of tissue injury. The etiology of SLE is partially known, involving multiple genetic and environmental factors. As many as 50% of patients with SLE have neurological involvement during the course of their disease. Neurological manifestations are associated with impaired quality of life, and high morbidity and mortality rates. Nineteen neuropsychiatric syndromes have been identified associated with SLE, and can be divided into central and peripheral manifestations...
December 2016: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/27943094/primary-brain-calcification-causal-pit2-transport-knockout-variants-can-exert-dominant-negative-effects-on-wild-type-pit2-transport-function-in-mammalian-cells
#17
Frederik Tibert Larsen, Nina Jensen, Jacob Kwasi Autzen, Iben Boutrup Kongsfelt, Lene Pedersen
Primary brain calcification (PBC) is a neurodegenerative disorder characterized by calcium-phosphate deposits in the basal ganglia and often also other areas of the brain. The prevalent clinical manifestations are cognitive impairment, neuropsychiatric symptoms, and movement disorders. In recent years, monoallelic variants in SLC20A2, which encodes the type III sodium-dependent inorganic phosphate (Pi) transporter 2 (PiT2), have been linked to the familial form of PBC in 40-50% of the families reported worldwide as well as to sporadic cases of PBC...
December 9, 2016: Journal of Molecular Neuroscience: MN
https://www.readbyqxmd.com/read/27940500/binge-ethanol-drinking-during-adolescence-modifies-cocaine-responses-in-mice
#18
Anna Esteve-Arenys, Irene Gracia-Rubio, Lídia Cantacorps, Oscar J Pozo, Josep Marcos, Marta Rodríguez-Árias, José Miñarro, Olga Valverde
Binge ethanol drinking is an emerging pattern of excessive consumption among adolescents and young adults. Repeated ethanol intoxication has negative consequences during critical periods of brain development. Therefore, binge ethanol intake represents a vulnerability factor that promotes subsequent manifestations of neuropsychiatric disorders. In this study, we investigated the effects of oral binge ethanol intake during adolescence on the subsequent effects of cocaine in C57BL/6 mice. Firstly, we evaluated the oral ethanol intake of two binge ethanol procedures with different ethanol concentrations (20% v/v versus 30%, v/v)...
December 9, 2016: Journal of Psychopharmacology
https://www.readbyqxmd.com/read/27930723/fourteen-years-of-experience-of-liver-transplantation-for-wilson-s-disease-a-report-on-107-cases-from-shiraz-iran
#19
Kamran B Lankarani, Seyed Ali Malek-Hosseini, Saman Nikeghbalian, Mohsen Dehghani, Mohammad Pourhashemi, Kourosh Kazemi, Parisa Janghorban, Maryam Akbari, Sulmaz Ghahramani, Bijan Eghtesad, Maryam Moini, Abbas Rahmi Jaberi, Alireza Shamsaifar, Siavosh Gholami, Fatemeh Rahmanian, Bita Geramizadeh
BACKGROUND AND AIM: Liver transplantation is a potential cure for liver damage from Wilson's disease but the course of neuropsychiatric manifestations after transplantation remains undetermined. MATERIAL AND METHODS: In this study, data on all patients who'd received a liver transplant for Wilson's disease at the Shiraz Organ Transplantation Center between December 2000 and March 2014 were reviewed and compared to data on a control group who'd received a liver transplant over the same period but due to other causes...
2016: PloS One
https://www.readbyqxmd.com/read/27915967/liver-transplant-can-resolve-severe-neuropsychiatric-manifestations-of-wilson-disease-a-case-report
#20
Gregory Walker, Trana Hussaini, Robert Stowe, Silke Cresswell, Eric M Yoshida
Although liver transplant for decompensated cirrhosis secondary to Wilson disease is well accepted, the use of transplant for patients with severe neurologic manifestations of this condition remains controversial, and these can be perceived as a contraindication. Here, we describe a 45-year-old woman who presented with an incidental hepatocellular carcinoma at the time of transplant. The patient had severe neurologic manifestations of Wilson disease pretransplant, including dysarthria, hyperreflexia, asymmetrical ataxia, tremor, bradyphrenia, and shuffling gait...
December 2, 2016: Experimental and Clinical Transplantation
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