keyword
MENU ▼
Read by QxMD icon Read
search

neuropsychiatric manifestations of

keyword
https://www.readbyqxmd.com/read/28722801/primary-familial-brain-calcification-with-a-novel-slc20a2-mutation-analysis-of-pit-2-expression-and-localization
#1
Ilaria Taglia, Patrizia Formichi, Carla Battisti, Giulia Peppoloni, Melissa Barghigiani, Alessandra Tessa, Antonio Federico
Primary Familial Brain Calcification (PFBC) is an autosomal dominant rare disorder characterized by bilateral and symmetric brain calcifications and neuropsychiatric manifestations. Four genes have been linked to PFBC: SLC20A2, PDGFRB, PDGFB and XPR1. In this study, we report molecular and clinical data of a PFBC patient carrying a novel SLC20A2 mutation and we investigate the impact of the mutation on PiT-2 expression and function. Sanger sequencing of SLC20A2, PDGFRB, PDGFB, XPR1 led to the identification of a novel duplication of twelve nucleotides (c...
July 19, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28721049/the-potential-role-of-vagus-nerve-stimulation-in-the-treatment-of-hiv-associated-depression-a-review-of-literature
#2
REVIEW
William C Nicholson, Mirjam-Colette Kempf, Linda Moneyham, David E Vance
Depression is the most common comorbidity and neuropsychiatric complication in HIV. Estimates suggest that the prevalence rate for depression among HIV-infected individuals is three times that of the general population. The association between HIV and clinical depression is complex; however, chronic activation of inflammatory mechanisms, which disrupt central nervous system (CNS) function, may contribute to this association. Disruptions in CNS function can result in cognitive disorders, social withdrawal, fatigue, apathy, psychomotor impairment, and sleep disturbances, which are common manifestations in depression and HIV alike...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28720532/lipoid-proteinosis-a-clinical-and-molecular-study-in-egyptian-patients
#3
Hanan H Afifi, Khalda S Amr, Angie M S Tosson, Tarak A Hassan, Mennat I Mehrez, Ghada Y El-Kamah
Lipoid proteinosis (LP) is an autosomal recessive disorder caused by the loss of function of ECM1 gene. Clinical features include varying degrees of skin thickening, hoarseness of voice and less frequently neuropsychiatric abnormalities. Twelve patients from ten unrelated families with a clinical diagnosis of lipoid proteinosis were enrolled in this study. Extraction of DNA samples of the 12 patients and their parents from peripheral blood by standard methods was performed. Polymerase chain reaction (PCR) amplification of the ECM1 gene was conducted using eight pairs of primers spanning over the 10 exons and splice junctions...
July 15, 2017: Gene
https://www.readbyqxmd.com/read/28696432/cross-disorder-risk-gene-cacna1c-differentially-modulates-susceptibility-to-psychiatric-disorders-during-development-and-adulthood
#4
N Dedic, M L Pöhlmann, J S Richter, D Mehta, D Czamara, M W Metzger, J Dine, B T Bedenk, J Hartmann, K V Wagner, A Jurik, L M Almli, A Lori, S Moosmang, F Hofmann, C T Wotjak, G Rammes, M Eder, A Chen, K J Ressler, W Wurst, M V Schmidt, E B Binder, J M Deussing
Single-nucleotide polymorphisms (SNPs) in CACNA1C, the α1C subunit of the voltage-gated L-type calcium channel Cav1.2, rank among the most consistent and replicable genetics findings in psychiatry and have been associated with schizophrenia, bipolar disorder and major depression. However, genetic variants of complex diseases often only confer a marginal increase in disease risk, which is additionally influenced by the environment. Here we show that embryonic deletion of Cacna1c in forebrain glutamatergic neurons promotes the manifestation of endophenotypes related to psychiatric disorders including cognitive decline, impaired synaptic plasticity, reduced sociability, hyperactivity and increased anxiety...
July 11, 2017: Molecular Psychiatry
https://www.readbyqxmd.com/read/28694624/neuropsychiatric-manifestations-of-scrub-typhus
#5
REVIEW
Sanjay K Mahajan, Sanyam K Mahajan
Scrub typhus is caused by Orientia tsutsugamushi characterized by focal or disseminated vasculitis and perivasculitis which may involve the lungs, heart, liver, spleen and central nervous system. It was thought to have been eradicated from India. Recently it is being reported from many areas of India. The clinical picture and severity of the symptoms varies widely. The neurological manifestations of scrub typhus are not uncommon but are diverse. Meningoencephalitis is classical manifestation of scrub typhus but cerebellitis, cranial nerve palsies, plexopathy, transverse myelitis, neuroleptic malignant syndrome and Guillan-Barré syndrome are other manifestations reported in literature...
July 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28694611/depression-as-a-manifestation-of-obstructive-sleep-apnea
#6
Sheikh Shoib, Javid A Malik, Shariq Masoodi
BACKGROUND: Obstructive sleep apnea (OSA) often results in a wide range of comorbid conditions, predominantly of the cardiovascular/respiratory, endocrine/metabolic, and neuropsychiatric symptoms. In view of the ambiguity of literature regarding the association between OSA and depression, we conducted this study to show any association between the two disorders. OBJECTIVE: The aim of the study was to see the association between OSA and depression and to study the prevalence of OSA in patients suffering from depression...
July 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28692723/safety-of-converting-from-tetrabenazine-to-deutetrabenazine-for-the-treatment-of-chorea
#7
Samuel Frank, David Stamler, Elise Kayson, Daniel O Claassen, Amy Colcher, Charles Davis, Andrew Duker, Shirley Eberly, Lawrence Elmer, Erin Furr-Stimming, Mark Gudesblatt, Christine Hunter, Joseph Jankovic, Sandra K Kostyk, Rajeev Kumar, Clement Loy, William Mallonee, David Oakes, Burton L Scott, Victor Sung, Jody Goldstein, Christina Vaughan, Claudia M Testa
Importance: Tetrabenazine is efficacious for chorea control; however, tolerability concerns exist. Deutetrabenazine, a novel molecule that reduces chorea, was well tolerated in a double-blind, placebo-controlled study. Objectives: To evaluate the safety and explore the efficacy of conversion from tetrabenazine to deutetrabenazine in patients with chorea associated with Huntington disease (HD). Design, Setting, and Participants: In this ongoing, open-label, single-arm study that started on December 21, 2013, 37 patients at 13 Huntington Study Group sites in the United States and Australia who were taking stable doses of tetrabenazine that provided a therapeutic benefit were switched overnight to deutetrabenazine therapy...
July 10, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28689590/chronic-hepatitis-c-virus-infection-and-depression
#8
REVIEW
Luigi Elio Adinolfi, Riccardo Nevola, Luca Rinaldi, Ciro Romano, Mauro Giordano
Hepatitis C virus (HCV) infection is a systemic disease with hepatic and extrahepatic manifestations, including neuropsychiatric conditions. Depression is a frequent disorder, which has been reported in one-third of patients with HCV infection and has an estimated prevalence of 1.5 to 4.0 times higher than that observed in patients with chronic hepatitis B virus infection or the general population. HCV seems to play a direct and indirect role in the development of depression. Impaired quality of life and increasing health care costs have been reported for patients with HCV infection with depression...
August 2017: Clinics in Liver Disease
https://www.readbyqxmd.com/read/28689508/social-inappropriateness-in-neurodegenerative-disorders
#9
Philippe Desmarais, Krista L Lanctôt, Mario Masellis, Sandra E Black, Nathan Herrmann
BACKGROUND: New onset of mood and behavioral changes in middle-aged patients are frequently the first manifestations of an unrecognized neurocognitive disorder. Impairment of social cognition, the cognitive ability to process social information coming from others, such as emotions, to attribute mental states to others, and to respond appropriately to them, is often at the origin of behavioral manifestations in neurodegenerative disorders. METHODS: This paper reviews the current literature on social cognition impairment in neurocognitive disorders, particularly in prodromal stages of behavioral-variant frontotemporal dementia (bvFTD), Alzheimer's disease (AD), idiopathic Parkinson's disease (IPD), and Lewy body dementia (LBD)...
July 10, 2017: International Psychogeriatrics
https://www.readbyqxmd.com/read/28688623/neuropsychiatric-debut-as-a-presentation-of-guillain-barr%C3%A3-syndrome-an-atypical-clinical-case-and-literature-review
#10
Dinesh Sangroula, Richard Durrance, Shirshak Bhattarai, Thambirajah Nandakumar
INTRODUCTION: Guillain Barré Syndrome (GBS) is an acute immune-mediated polyneuropathy most frequently presenting two to four weeks after an acute mild-moderately severe infection as progressive muscular weakness of the lower limbs extending proximally with dysreflexia and autonomic dysfunction. While GBS is typically believed to be isolated to the Peripheral Nervous System, Central Nervous System (CNS) and psychiatric manifestations as a sequela of the disease have been described in different imaging and clinical studies...
July 5, 2017: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/28682462/need-to-recalibrate-research-outcomes-in-alzheimer-s-disease-focus-on-neuropsychiatric-symptoms
#11
Marco Canevelli, Matteo Cesari, Flaminia Lucchini, Martina Valletta, Michele Sabino, Eleonora Lacorte, Nicola Vanacore, Giuseppe Bruno
OBJECTIVES: To determine whether neuropsychiatric symptoms (NPSs) are adequately considered in clinical research on Alzheimer's disease (AD). DESIGN: Systematic review. SETTING: Randomized controlled trials (RCTs) recruiting individuals with AD and published during the last 10 years in 16 major general medicine, neurology, psychiatry, and geriatric psychiatry journals and RCTs registered on clinicaltrials.gov and currently enrolling individuals with AD...
July 6, 2017: Journal of the American Geriatrics Society
https://www.readbyqxmd.com/read/28667702/tuberous-sclerosis-complex-recent-advances-in-manifestations-and-therapy
#12
REVIEW
Mari Wataya-Kaneda, Motohide Uemura, Kazutoshi Fujita, Haruhiko Hirata, Keigo Osuga, Kuriko Kagitani-Shimono, Norio Nonomura
Tuberous sclerosis complex is an autosomal dominant inherited disorder characterized by generalized involvement and variable manifestations with a birth incidence of 1:6000. In a quarter of a century, significant progress in tuberous sclerosis complex has been made. Two responsible genes, TSC1 and TSC2, which encode hamartin and tuberin, respectively, were discovered in the 1990s, and their functions were elucidated in the 2000s. Hamartin-Tuberin complex is involved in the phosphoinositide 3-kinase-protein kinase B-mammalian target of rapamycin signal transduction pathway, and suppresses mammalian target of rapamycin complex 1 activity, which is a center for various functions...
July 1, 2017: International Journal of Urology: Official Journal of the Japanese Urological Association
https://www.readbyqxmd.com/read/28666514/a-rare-neuropsychiatric-presentation-of-adult-onset-wilson-s-disease
#13
Ather Muneer
Wilson's disease is characterised by deposition of copper in various tissues of the body, most markedly in the liver and the brain. Cerebral involvement, evident as neuropsychiatric symptoms, may be the presenting form of the illness in up to 50% of the adults. When patients present initially with psychiatric manifestations, the correct diagnosis is frequently missed. This case report describes an adult in his late 20's who presented with symptoms of major depressive disorder, but failed to respond to standard antidepressant treatment...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28664299/role-of-disc1-in-neuronal-trafficking-and-its-implication-in-neuropsychiatric-manifestation-and-neurotherapeutics
#14
REVIEW
Toshifumi Tomoda, Takatoshi Hikida, Takeshi Sakurai
Disrupted-in-schizophrenia 1 (DISC1) was initially identified as a gene disrupted by a translocation mutation co-segregating with a variety of psychotic and mood disorders in a Scottish pedigree. In agreement with this original finding, mouse models that perturb Disc1 display deficits of behaviors in specific dimensions, such as cognition and emotion, but not a motor dimension. Although DISC1 is not a risk gene for sporadic cases of specific psychiatric disorders defined by categorical diagnostic criteria (e...
June 29, 2017: Neurotherapeutics: the Journal of the American Society for Experimental NeuroTherapeutics
https://www.readbyqxmd.com/read/28662631/a-case-of-neuropsychiatric-lupus-erythematosus-characterized-by-the-owl-s-eye-sign-a-case-report
#15
Bolin Hu, Pengcheng Wu, Yibiao Zhou, Yan Peng, Xiaoping Tang, Weijiang Ding, Ming Zhang, Xueliang Qi
BACKGROUND: Systemic lupus erythematosus (SLE) is an autoimmune inflammatory disorder characterized by multiple affected systems. More than half of SLE patients will suffer from neuropsychiatric lupus erythematosus (NPSLE) during the course of their disease. Although nearly half of the NPSLE patients have normal MRI manifestations, the abnormalities found in the remainder can be located anywhere in the brain, and especially in the subcortical white matter of the frontal and temporal lobe...
June 29, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28658885/psychosis-in-a-case-of-dandy-walker-syndrome-a-case-report
#16
Ripu Daman Dawra, Sagar Karia, Nilesh Shah, Avinash Desousa
Dandy Walker Syndrome (DWS) is a congenital malformation with brain abnormalities, intellectual disabilities, epilepsy and visible structural changes in particular brain structures. We present here a case of psychosis in an 18-year-old male with DWS, epilepsy and intellectual disability. The purpose of this paper is to discuss the clinically relevant issues, psychopharmacological issues, neuropsychiatric manifestations and consultation liaison issues involved.
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28650064/-a-new-case-of-psychotic-break-as-the-presenting-symptom-of-anti-nmda-receptor-encephalitis-treatment-from-a-neuropsychiatric-approach
#17
P Hernaez-Goni, P Luna-Lario, J Tirapu-Ustarroz
INTRODUCTION: Limbic encephalitis generated by anti-N-methyl D-aspartate (NMDA) receptor antibodies is a severe acute neurological condition that is more prevalent in young females and is associated with an underlying tumour. The appearance of severe initial psychiatric signs and symptoms and the fact that it is accompanied by emotional disorders and severe cognitive impairment make it necessary to reconsider the contributions of neuropsychiatry to the diagnosis, development and treatment of the disease, since these have received little attention from researchers to date...
July 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28644255/periodic-paralysis-and-encephalopathy-as-initial-manifestations-of-graves-disease-case-report-and-review-of-the-literature
#18
Theocharis Tsironis, Athanasios Tychalas, Dimitrios Kiourtidis, Jannis Kountouras, Georgia Xiromerisiou, Jobst Rudolf, Georgia Deretzi
BACKGROUND: Thyrotoxic periodic paralysis (TPP) is an uncommon complication of Graves' disease, characterized by the triad of acute hypokalemia without total body potassium deficit, episodic muscle paralysis, and thyrotoxicosis. Graves' encephalopathy is an extremely rare form of encephalopathy associated with autoimmune thyroid disease (EAATD), characterized by neuropsychiatric symptoms, increased antithyroid antibodies and cerebrospinal fluid protein concentration, nonspecific electroencephalogram abnormalities, and cortico-responsiveness...
July 2017: Neurologist
https://www.readbyqxmd.com/read/28642858/pathological-fracture-of-femoral-neck-leading-to-a-diagnosis-of-wilson-s-disease-a-case-report-and-review-of-literature
#19
Nishit Bhatnagar, Purushotham Lingaiah, Jeetendra Singh Lodhi, Yugal Karkhur
Wilson's disease (WD) is a rare inherited disorder of copper metabolism. It chiefly has hepatic, neurological and ophthalmic manifestations. Although osteoporosis, rickets and early arthritis are common features of WD, they are under-recognized. Musculoskeletal manifestations very rarely lead to diagnosis of the disease. Here we present a case of a 12-year-old girl who presented with a 3-month-old pathological fracture of neck of femur. WD was diagnosed on investigating the cause of the pathological fracture, which was managed by performing a conventional McMurray's intertrochanteric osteotomy...
May 2017: Journal of Bone Metabolism
https://www.readbyqxmd.com/read/28630236/european-evidence-based-recommendations-for-diagnosis-and-treatment-of-childhood-onset-systemic-lupus-erythematosus-the-share-initiative
#20
Noortje Groot, Nienke de Graeff, Tadej Avcin, Brigitte Bader-Meunier, Paul Brogan, Pavla Dolezalova, Brian Feldman, Isabelle Kone-Paut, Pekka Lahdenne, Stephen D Marks, Liza McCann, Seza Ozen, Clarissa Pilkington, Angelo Ravelli, Annet van Royen-Kerkhof, Yosef Uziel, Bas Vastert, Nico Wulffraat, Sylvia Kamphuis, Michael W Beresford
Childhood-onset systemic lupus erythematosus (cSLE) is a rare, multisystem and potentially life-threatening autoimmune disorder with significant associated morbidity. Evidence-based guidelines are sparse and management is often based on clinical expertise. SHARE (Single Hub and Access point for paediatric Rheumatology in Europe) was launched to optimise and disseminate management regimens for children and young adults with rheumatic diseases like cSLE. Here, we provide evidence-based recommendations for diagnosis and treatment of cSLE...
June 19, 2017: Annals of the Rheumatic Diseases
keyword
keyword
86011
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"