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https://www.readbyqxmd.com/read/28333231/tolerability-of-integrase-inhibitors-in-a-real-life-setting
#1
Judit Peñafiel, Elisa de Lazzari, Mireia Padilla, Jhon Rojas, Ana Gonzalez-Cordon, Jose L Blanco, Jordi Blanch, Maria A Marcos, Montserrat Lonca, Maria Martinez-Rebollar, Montserrat Laguno, Amparo Tricas, Ana Rodriguez, Josep Mallolas, Jose M Gatell, Esteban Martinez
Background: Integrase inhibitors have shown better tolerability than other drugs in clinical trials, but some post-marketing data have suggested potential differences among them. Aims: We compared rates and reasons for discontinuation of raltegravir-, elvitegravir- and dolutegravir-based regimens in a large cohort of HIV-infected patients. Methods: Retrospective analysis of a prospectively followed cohort including all antiretroviral-naive and all virologically suppressed antiretroviral-experienced patients prescribed a first regimen containing raltegravir, elvitegravir or dolutegravir with at least one follow-up visit...
February 28, 2017: Journal of Antimicrobial Chemotherapy
https://www.readbyqxmd.com/read/28302064/a-sibship-with-duplication-of-xq28-inherited-from-the-mother-genomic-characterization-and-clinical-outcomes
#2
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
BACKGROUND: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. METHODS: We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. RESULTS: The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283)...
March 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28298568/comparison-of-disease-characteristics-organ-damage-and-survival-in-patients-with-juvenile-onset-and-adult-onset-systemic-lupus-erythematosus-in-a-combined-cohort-from-2-tertiary-centers-in-turkey
#3
Bahar Artim-Esen, Sezgin Şahin, Erhan Çene, Yasemin Şahinkaya, Kenan Barut, Amra Adrovic, Yasemin Özlük, Işın Kılıçaslan, Ahmet Omma, Ahmet Gül, Lale Öcal, Özgür Kasapçopur, Murat İnanç
OBJECTIVE: Age at onset has been shown to affect the clinical course and outcome of systemic lupus erythematosus (SLE). Herein, we aimed to define the differences in clinical characteristics, organ damage, and survival between patients with juvenile-onset (jSLE) and adult-onset SLE (aSLE). METHODS: For the study, 719 patients (76.9%) with aSLE and 216 (23.1%) with jSLE were examined. Comparisons between the groups were made for demographic characteristics, clinical features, autoantibody profiles, damage, and survival rates...
March 15, 2017: Journal of Rheumatology
https://www.readbyqxmd.com/read/28270230/risk-factors-for-the-development-of-autism-spectrum-disorder-in-children-with-tuberous-sclerosis-complex-protocol-for-a-systematic-review
#4
Rebecca Mitchell, Sarah Barton, A Simon Harvey, Katrina Williams
BACKGROUND: Tuberous sclerosis complex (TSC) is an autosomal dominant condition, caused by mutations in either the TSC1 or TSC2 gene. It has widespread systemic manifestations and is associated with significant neurological morbidity. In addition to seizures and cerebral pathology including cortical tubers, subependymal nodules, subependymal giant cell astrocytoma and abnormal white matter, there are recognised neuropsychiatric difficulties including intellectual disability, autism spectrum disorder (ASD) and a range of learning and behaviour problems, recently conceptualised as "tuberous sclerosis-associated neuropsychiatric disorders", or "TAND"...
March 8, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28265323/bladder-and-bowel-dysfunction-in-children-an-update-on-the-diagnosis-and-treatment-of-a-common-but-underdiagnosed-pediatric-problem
#5
REVIEW
Joana Dos Santos, Roberto I Lopes, Martin A Koyle
Bladder and bowel dysfunction (BBD) describes a spectrum of lower urinary symptoms (LUTS) accompanied by fecal elimination issues that manifest primarily by constipation and/or encopresis. This increasingly common entity is a potential cause of significant physical and psychosocial burden for children and families. BBD is commonly associated with vesicoureteral reflux (VUR) and recurrent urinary tract infections (UTIs), which at its extreme may lead to renal scarring and kidney failure. Additionally, BBD is frequently seen in children diagnosed with behavioural and neuropsychiatric disorders such as attention-deficit/hyperactivity disorder (ADHD) and autism spectrum disorder (ASD)...
January 2017: Canadian Urological Association Journal, Journal de L'Association des Urologues du Canada
https://www.readbyqxmd.com/read/28258476/psychomotor-agitation-following-treatment-with-hydroxychloroquine
#6
Ciro Manzo, Pietro Gareri, Alberto Castagna
We describe the case of an elderly woman with elderly-onset rheumatoid arthritis, where the use of 4 mg/kg/day of hydroxychloroquine (HCQ) was followed by the onset of psychomotor agitation with marked physical and verbal violence towards her partner, including throwing objects at her partner. No disturbance in sleep and no anxiety, nervousness, or irritability had emerged before the onset of her psychomotor agitation. The disappearance of agitation following targeted pharmacologic intervention and HCQ interruption, its re-onset after reintroduction of the drug, and the high score (9) of Naranjo's algorithm are surely linked to the existence of a causal relationship between HCQ and psychomotor agitation...
December 2017: Drug Safety—Case Reports
https://www.readbyqxmd.com/read/28250995/malignant-catatonia-warrants-early-psychiatric-critical-care-collaborative-management-two-cases-and-literature-review
#7
Julia Park, Josh Tan, Sylvia Krzeminski, Maryam Hazeghazam, Meghana Bandlamuri, Richard W Carlson
Malignant catatonia (MC) is a life-threatening manifestation which can occur in the setting of an underlying neuropsychiatric syndrome or general medical illness and shares clinical and pathophysiological features and medical comorbidities with the Neuroleptic Malignant Syndrome (NMS). The subsequent diagnosis and definitive therapy of MC are typically delayed, which increases morbidity and mortality. We present two cases of MC and review recent literature of MC and NMS, illustrating factors which delay diagnosis and management...
2017: Case Reports in Critical Care
https://www.readbyqxmd.com/read/28240590/a-meta-analysis-of-avascular-necrosis-in-systemic-lupus-erythematosus-prevalence-and-risk-factors
#8
Tatiana Nevskaya, Maeve P Gamble, Janet E Pope
OBJECTIVES: To determine the prevalence of and risk factors for avascular necrosis (AVN) in systemic lupus erythematosus (SLE). METHODS: MEDLINE, CINAHL, Web of Science, EMBASE and Cochrane Library were searched from inception to July, 2015 and a random effects model was used to combine frequencies; study quality was assessed using STROBE. RESULTS: 2,041 citations identified 62 articles. Many results had high heterogeneity. The prevalence of symptomatic AVN was 9% (range 0...
February 24, 2017: Clinical and Experimental Rheumatology
https://www.readbyqxmd.com/read/28236156/antimalarial-myopathy-in-a-systemic-lupus-erythematosus-patient-with-quadriparesis-and-seizures-a-case-based-review
#9
REVIEW
Kashif Jafri, Hengameh Zahed, Katherine D Wysham, Sarah Patterson, Amber L Nolan, Matthew D Bucknor, R Krishna Chaganti
Weakness, seizures, and encephalopathy have a broad differential diagnosis in patients with systemic lupus erythematosus (SLE). We present a case of a 26-year-old female with a recent diagnosis of SLE who experienced a clinical deterioration with quadriparesis, seizures, and encephalopathy. Her quadriparesis was found to be secondary to biopsy-proven hydroxychloroquine-induced myopathy with concomitant inflammatory myopathy. Her seizures and encephalopathy were suspected to be multifactorial in the setting of sepsis and critical illness with possible contributions from neuropsychiatric manifestations of SLE and macrophage activation syndrome...
February 24, 2017: Clinical Rheumatology
https://www.readbyqxmd.com/read/28217440/rapidly-progressive-cognitive-impairment-with-neuropsychiatric-symptoms-as-the-initial-manifestation-of-status-epilepticus
#10
Jorge A Mutis, Jesús H Rodríguez, Mauricio O Nava-Mesa
The purpose of this article is to describe the clinical and electroencephalographic features of patients diagnosed with non-convulsive status epilepticus (NCSE) with uncommon cognitive and behavioral involvement. We present two cases with sub-acute cognitive impairment and neuropsychiatric disorders (including anxiety and transient behavioral changes) as their first manifestation of NCSE. A neuropsychological profile demonstrated executive dysfunction. In addition, the neurological examination revealed automatisms and 24-hour video EEG showed epileptiform activity...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28215312/prevalence-of-clinical-thiamine-deficiency-in-individuals-with-medically-complicated-obesity
#11
Anand Nath, Tung Tran, Timothy R Shope, Timothy R Koch
Thiamine is a vitamin whose deficient can result in multiorgan symptoms. We described an 18% prevalence of clinical thiamine deficiency after gastric bypass surgery. Our hypotheses are that individuals with medically complicated obesity frequently have clinical thiamine deficiency and that diabetes mellitus is a mechanism for development of clinical thiamine deficiency. This is a single institution, retrospective observational study of consecutive patients with a body mass index of at least 35 kg/m(2) who were evaluated in preoperative gastrointestinal bariatric clinic from 2013 to 2015...
January 2017: Nutrition Research
https://www.readbyqxmd.com/read/28212495/neuropsychiatric-symptoms-in-mild-cognitive-impairment
#12
Damien Gallagher, Corinne E Fischer, Andrea Iaboni
OBJECTIVE: Neuropsychiatric symptoms (NPS) may be the first manifestation of an underlying neurocognitive disorder. We undertook a review to provide an update on the epidemiology and etiological mechanisms of NPS that occur in mild cognitive impairment (MCI) and just before the onset of MCI. We discuss common clinical presentations and the implications for diagnosis and care. METHOD: The authors conducted a selective review of the literature regarding the emergence of NPS in late life, before and after the onset of MCI...
March 2017: Canadian Journal of Psychiatry. Revue Canadienne de Psychiatrie
https://www.readbyqxmd.com/read/28203329/pseudotumor-cerebri-as-the-first-manifestation-of-juvenile-systemic-lupus-erythematosus
#13
Seyed-Reza Raeeskarami, Leila Shahbaznejad, Raheleh Assari, Yahya Aghighi
INTRODUCTION: Headache is a common neuropsychiatric manifestation of juvenile systemic lupus erythematous (JSLE). Pseudotumor cerebri (PTC) is an uncommon cause of headache, presenting especially in active JSLE. In this paper, we report a case of missed intractable headache that was eventually diagnosed as PTC and presented as the first manifestation of JSLE. CASE PRESENTATION: A 9-year-old girl with a history of progressive headache for four months, fever, fatigue, myalgia, arthralgia, small-joint arthritis of the hands, and recent diplopia was referred to our clinic...
October 2016: Iranian Journal of Pediatrics
https://www.readbyqxmd.com/read/28202261/hyperprolinemia-as-a-clue-in-the-diagnosis-of-a-patient-with-psychiatric-manifestations
#14
Marco Duarte, Joana Afonso, Ana Moreira, Diana Antunes, Cristina Ferreira, Hildeberto Correia, Margarida Marques, Sílvia Sequeira
Lately, microdeletions of the 22q region, responsible for DiGeorge syndrome or velocardiofacial syndrome, have been increasingly related to neuropsychiatric disorders including schizophrenia and bipolar disorder. These manifestations seem to be related to certain genes located in the hemideleted region such as the proline dehydrogenase (PRODH) and the catechol-o-methyltransferase (COMT) genes. We describe a teenager who started his adolescent psychiatric care presenting cognitive impairment, irritable mood and aggressive behaviour with schizophrenia-like symptoms that scored 153 in the Positive and Negative Symptoms Scale (PANSS) assessment...
February 12, 2017: Brain & Development
https://www.readbyqxmd.com/read/28178878/disease-characterization-of-systemic-lupus-erythematosus-sle-patients-in-quebec
#15
R Ng, S Bernatsky, E Rahme
Objective Systemic lupus erythematosus (SLE) is an autoimmune disease characterized by an array of organ manifestations that can appear during flares and disappear during remissions. The objectives of this study were: (i) to examine SLE manifestation groups longitudinally in an SLE cohort; and (ii) to assess the association between early antimalarial treatment and renal manifestations. Methods Seven SLE manifestation groups-cutaneous, hematologic, lung, musculoskeletal, neuropsychiatric, serositis, renal-were tracked using Kaplan-Meier survival curves in an incident SLE cohort from Quebec health administrative data ( n = 2010)...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28178431/neuropsychiatric-systemic-lupus-erythematosus-involvement-towards-a-tailored-approach-to-our-patients
#16
REVIEW
Raquel Faria, João Gonçalves, Rita Dias
Neuropsychiatric involvement in systemic lupus erythematosus (NPSLE) is a complex condition that remains poorly understood, and includes heterogeneous manifestations involving both the central and peripheral nervous system, with disabling effects. There are several models to improve NPSLE diagnosis when a neurological syndrome is present. In the last couple of years, the growing knowledge of the role of cytokines and antibodies in NPSLE, as well as the development of new functional imaging techniques, has brought some insights into the physiopathology of the disease, but their validation for clinical use remains undetermined...
January 30, 2017: Rambam Maimonides Medical Journal
https://www.readbyqxmd.com/read/28153970/a-rare-case-of-famotidine-induced-delirium-in-a-peritoneal-dialysis-patient
#17
Gary C W Chan, K M Lee, Lorraine P Y Kwan, Maggie M Y Mok, Maggie K M Ma, Desmond Y H Yap, Sydney C W Tang
H2 receptor antagonists are commonly employed to manage gastro-esophageal reflux and peptic ulcer diseases with a very low incidence of side effects. Herein, we report an extremely rare incidence of famotidine-induced acute confusion in a patient with end-stage renal failure. We also discuss the pharmacokinetic properties of famotidine and its interplay with compromised renal function to result in neuropsychiatric manifestations, highlighting the importance of dosage ad ustment in individuals with renal insufficiency...
January 2017: Peritoneal Dialysis International: Journal of the International Society for Peritoneal Dialysis
https://www.readbyqxmd.com/read/28134038/outcomes-of-847-childhood-onset-systemic-lupus-erythematosus-patients-in-three-age-groups
#18
S R M Lopes, N W S Gormezano, R C Gomes, N E Aikawa, R M R Pereira, M T Terreri, C S Magalhães, J C Ferreira, E M Okuda, A P Sakamoto, A M E Sallum, S Appenzeller, V P L Ferriani, C M Barbosa, S Lotufo, A A Jesus, L E C Andrade, L M A Campos, E Bonfá, C A Silva
Objective The objective of this study was to assess outcomes of childhood systemic lupus erythematosus (cSLE) in three different age groups evaluated at last visit: group A early-onset disease (<6 years), group B school age (≥6 and <12 years) and group C adolescent (≥12 and <18 years). Methods An observational cohort study was performed in ten pediatric rheumatology centers, including 847 cSLE patients. Results Group A had 39 (4%), B 395 (47%) and C 413 (49%). Median disease duration was significantly higher in group A compared to groups B and C (8...
January 1, 2017: Lupus
https://www.readbyqxmd.com/read/28131182/neuropsychiatric-symptoms-behavioural-disorders-and-quality-of-life-in-parkinson-s-disease
#19
REVIEW
Roberta Balestrino, Pablo Martinez-Martin
Parkinson's disease is a complex neurodegenerative disorder characterized by motor and non-motor symptoms, with neuropsychiatric manifestations among the most frequent non-motor symptoms. Health-related quality of life is a patient-reported outcome that reflects the impact of the disease on physical, mental, and social wellbeing, and on other aspects of patient' life. Although older studies on health-related quality of life in Parkinson's disease mainly investigated the role of the motor impairment, recent research focused on non-motor symptoms has highlighted the critical role that behavioural disturbances due to neuropsychiatric symptoms play in determining health related quality of life...
February 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28109579/reprint-of-neuropsychiatric-symptoms-behavioural-disorders-and-quality-of-life-in-parkinson-s-disease
#20
REVIEW
Roberta Balestrino, Pablo Martinez-Martin
Parkinson's disease is a complex neurodegenerative disorder characterized by motor and non-motor symptoms, with neuropsychiatric manifestations among the most frequent non-motor symptoms. Health-related quality of life is a patient-reported outcome that reflects the impact of the disease on physical, mental, and social wellbeing, and on other aspects of patient' life. Although older studies on health-related quality of life in Parkinson's disease mainly investigated the role of the motor impairment, recent research focused on non-motor symptoms has highlighted the critical role that behavioural disturbances due to neuropsychiatric symptoms play in determining health related quality of life...
March 15, 2017: Journal of the Neurological Sciences
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