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https://www.readbyqxmd.com/read/29110776/psychiatric-syndromes-other-than-dementia
#1
Karl Bechter, Florian Deisenhammer
There is wide variability in how psychiatry guidelines and textbooks address the question of cerebrospinal fluid (CSF) diagnostics in the screening of psychiatric disorders. A United States-based textbook confirms that there is no consensus about which laboratory investigation should be routinely performed in psychiatric patients, but with respect to CSF diagnostics, the differences are even more striking. A survey among European experts showed a wide variety of opinions regarding clinical use and criteria in various countries of Europe and worldwide: some psychiatrists, mostly university hospital-based, recommended performing CSF diagnostics in every patient first experiencing severe mental illness (SMI), but especially in patients from the schizophrenia spectrum, whereas others almost never perform CSF examinations themselves and usually refer patients to neurology departments if necessary...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29103052/increasing-efficiency-of-recruitment-in-early-parkinson-s-disease-trials-a-case-study-examination-of-the-steady-pd-iii-trial
#2
Sarah Berk, Brittany L Greco, Kevin Biglan, Catherine M Kopil, Robert G Holloway, Claire Meunier, Tanya Simuni
BACKGROUND: Challenges in clinical trial recruitment threaten the successful development of improved therapies. This is particularly true in Parkinson's disease (PD) studies of disease modification where the population of interest is difficult to find and study design is more complex. OBJECTIVE: This paper seeks to understand how STEADY PD III, a National Institute of Neurological Disorders and Stroke (NINDS) funded phase 3 trial evaluating the efficacy of isradipine as a disease modifying agent for PD, was able to recruit their full target population 6 months ahead of schedule...
2017: Journal of Parkinson's Disease
https://www.readbyqxmd.com/read/29101226/presentation-and-diagnosis-of-tuberous-sclerosis-complex-in-infants
#3
Peter E Davis, Rajna Filip-Dhima, Georgios Sideridis, Jurriaan M Peters, Kit Sing Au, Hope Northrup, E Martina Bebin, Joyce Y Wu, Darcy Krueger, Mustafa Sahin
OBJECTIVES: Tuberous sclerosis complex (TSC) is a neurocutaneous genetic disorder with a high prevalence of epilepsy and neurodevelopmental disorders. TSC can be challenging to diagnose in infants because they often do not show many clinical signs early in life. In this study, we describe the timing and pattern of presenting and diagnostic features in a prospective longitudinal study of infants with TSC. METHODS: Two multicenter, prospective studies enrolled 130 infants with definite TSC by clinical or genetic criteria and followed them longitudinally up to 36 months of age...
November 3, 2017: Pediatrics
https://www.readbyqxmd.com/read/29098318/-wilson-s-disease-what-has-been-confirmed-in-diagnostic-and-therapy
#4
REVIEW
E-D Pfister
Wilson's disease (WD) is a rare autosomal recessive disorder characterized by abnormal copper accumulation. Presenting a broad variety of phenotypes and, thus, being a chameleon within the group of metabolic diseases, the manifold clinical symptoms of WD can include hepatologic, neurologic, and psychiatric manifestations. Early onset presentations in infancy and late-onset manifestations in adults older than 70 years of age have been described. If the typical laboratory blood test values are missing, the diagnosis of WD may be difficult and often involves a combination of different parameters...
November 2, 2017: Der Internist
https://www.readbyqxmd.com/read/29050391/psychogenic-amnesia-syndromes-outcome-and-patterns-of-retrograde-amnesia
#5
Neil A Harrison, Kate Johnston, Federica Corno, Sarah J Casey, Kimberley Friedner, Kate Humphreys, Eli J Jaldow, Mervi Pitkanen, Michael D Kopelman
There are very few case series of patients with acute psychogenic memory loss (also known as dissociative/functional amnesia), and still fewer studies of outcome, or comparisons with neurological memory-disordered patients. Consequently, the literature on psychogenic amnesia is somewhat fragmented and offers little prognostic value for individual patients. In the present study, we reviewed the case records and neuropsychological findings in 53 psychogenic amnesia cases (ratio of 3:1, males:females), in comparison with 21 consecutively recruited neurological memory-disordered patients and 14 healthy control subjects...
September 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29021885/fracture-dislocation-at-c6-c7-level-with-quadriplegia-after-traditional-massage-in-a-patient-with-ankylosing-spondylitis-a-case-report
#6
Kak Abilash, Qmq Mohd, Zah Ahmad, Basir Towil
Ankylosing spinal disorders (ASD) tend to result in fractures and/or dislocations after minor trauma because of the altered biomechanical properties. The relative risk of traumatic vertebral fractures in patients with ankylosing spondylitis has been estimated as three times higher than in the general population. These spine traumas, which are located at cervical level in 81% of patients with ankylosing spondylitis, are complicated by neurological lesions in 65% of patients, due to the high inherent instability of these fractures...
July 2017: Malaysian Orthopaedic Journal
https://www.readbyqxmd.com/read/29016856/neuronal-overexpression-of-ube3a-isoform-2-causes-behavioral-impairments-and-neuroanatomical-pathology-relevant-to-15q11-2-q13-3-duplication-syndrome
#7
Nycole A Copping, Sarah G B Christian, Dylan J Ritter, M Saharul Islam, Nathalie Buscher, Dorota Zolkowska, Michael C Pride, Elizabeth L Berg, Janine M LaSalle, Jacob Ellegood, Jason P Lerch, Lawrence T Reiter, Jill L Silverman, Scott V Dindot
Maternally derived copy number gains of human chromosome 15q11.2-q13.3 (Dup15q syndrome or Dup15q) cause intellectual disability, epilepsy, developmental delay, hypotonia, speech impairments, and minor dysmorphic features. Dup15q syndrome is one of the most common and penetrant chromosomal abnormalities observed in individuals with autism spectrum disorder (ASD). Although ∼40 genes are located in the 15q11.2-q13.3 region, overexpression of the ubiquitin-protein E3A ligase (UBE3A) gene is thought to be the predominant molecular cause of the phenotypes observed in Dup15q syndrome...
October 15, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29016468/a-systematic-review-of-reminiscence-therapy-for-older-adults-in-taiwan
#8
Hsin-Yen Yen, Li-Jung Lin
BACKGROUND: Population aging is an increasing phenomenon in many countries around the world. It has been estimated that more than one quarter of all older adults experience a mental or neurological disorder or disease such as dementia, depression, anxiety, and substance abuse. Reminiscence is a popular treatment for enhancing well-being in older adults. Previous studies have shown that reminiscence therapy improves the cognitive functions, behaviors, and other psychosocial outcomes in older adult patients...
October 10, 2017: Journal of Nursing Research: JNR
https://www.readbyqxmd.com/read/28979204/hyposmia-is-associated-with-rbd-for-pd-patients-with-variants-of-snca
#9
Yuanyuan Li, Wenyan Kang, Linyuan Zhang, Liche Zhou, Mengyue Niu, Jun Liu
Objective: Hyposmia may occur simultaneously with REM sleep behavior disorder (RBD) as a specific phenotype in Parkinson's Diseases (PD), of which the disease progression is fast. In the study, we tried to identify whether the genotypic characteristics could participate in the co-occurrence of hyposmia and RBD in PD patients. Methods: 152 PD patients were recruited from the Department of Neurology, Ruijin Hospital affiliated to Shanghai JiaoTong University School of Medicine from 2011 to 2016, with comprehensive clinical assessment performing...
2017: Frontiers in Aging Neuroscience
https://www.readbyqxmd.com/read/28916820/accumulation-of-minor-alleles-and-risk-prediction-in-schizophrenia
#10
Pei He, Xiaoyun Lei, Dejian Yuan, Zuobin Zhu, Shi Huang
Schizophrenia is a common neuropsychiatric disorder with a lifetime risk of 1%. Accumulation of common polygenic variations has been found to be an important risk factor. Recent studies showed a role for the enrichment of minor alleles (MAs) of SNPs in complex diseases such as Parkinson's disease. Here we similarly studied the role of genome wide MAs in schizophrenia using public datasets. Relative to matched controls, schizophrenia cases showed higher average values in minor allele content (MAC) or the average amount of MAs per subject...
September 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28768859/identification-of-emerging-macrophage-tropic-hiv-1-r5-variants-in-brain-tissue-of-aids-patients-without-severe-neurological-complications
#11
Maria Paz Gonzalez-Perez, Paul J Peters, Olivia O'Connell, Nilsa Silva, Carole Harbison, Sheila Cummings Macri, Saravanan Kaliyaperumal, Katherine Luzuriaga, Paul R Clapham
Untreated HIV-positive (HIV-1(+)) individuals frequently suffer from HIV-associated neurocognitive disorders (HAND), with about 30% of AIDS patients suffering severe HIV-associated dementias (HADs). Antiretroviral therapy has greatly reduced the incidence of HAND and HAD. However, there is a continuing problem of milder neurocognitive impairments in treated HIV(+) patients that may be increasing with long-term therapy. In the present study, we investigated whether envelope (env) genes could be amplified from proviral DNA or RNA derived from brain tissue of 12 individuals with normal neurology or minor neurological conditions (N/MC individuals)...
October 15, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28768356/-singultus-diagnostic-workup-and-therapy
#12
Ohlrich Marcus, Georg Royl
A hiccup is a reflex movement with diffusely distributed afferents and efferents in the thorax; its functional relevance is controversial. In its physiological form, it is mostly a minor complaint that stops spontaneously and rarely leads to medical consultation. However, prolonged agonizing hiccups represent serious deterioration of quality of life. Chronic hiccups by definition last for more than 48 h, with gastroesophageal reflux being the frequent underlying disease. Various other causes affect multiple organ systems, some with serious underlying diseases...
July 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/28747895/combining-standard-conventional-measures-and-ecological-momentary-assessment-of-depression-anxiety-and-coping-using-smartphone-application-in-minor-stroke-population-a-longitudinal-study-protocol
#13
Camille Vansimaeys, Mathieu Zuber, Benjamin Pitrat, Claire Join-Lambert, Ruben Tamazyan, Wassim Farhat, Catherine Bungener
Context: Stroke has several consequences on survivors' daily life even for those who experience short-lasting neurological symptoms with no functional disability. Depression and anxiety are common psychological disorders occurring after a stroke. They affect long-term outcomes and quality of life but they are difficult to diagnose because of the neurobiological consequences of brain lesions. Current research priority is given to the improvement of the detection and prevention of those post-stroke psychological disorders...
2017: Frontiers in Psychology
https://www.readbyqxmd.com/read/28739219/systematic-review-of-hardware-related-complications-of-deep-brain-stimulation-do-new-indications-pose-an-increased-risk
#14
Onanong Jitkritsadakul, Roongroj Bhidayasiri, Suneil K Kalia, Mojgan Hodaie, Andres M Lozano, Alfonso Fasano
INTRODUCTION: Deep Brain Stimulation (DBS) is an effective treatment extended broadly to many neurological and psychiatric disorders. Nevertheless, complications may arise during DBS procedures or following implantation due to implanted hardware. This may result in both minor and major adverse events that may necessitate hardware removal and/or compromise maximal therapeutic benefit for the patient. OBJECTIVES AND METHODS: To identify relevant literature on hardware-related complications from DBS procedures by performing a systematic review, and propose how to identify at-risk group and possible preventive approaches...
July 13, 2017: Brain Stimulation
https://www.readbyqxmd.com/read/28699668/poems-syndrome-2017-update-on-diagnosis-risk-stratification-and-management
#15
REVIEW
Angela Dispenzieri
DISEASE OVERVIEW: POEMS syndrome is a paraneoplastic syndrome due to an underlying plasma cell neoplasm. The major criteria for the syndrome are polyradiculoneuropathy, clonal plasma cell disorder (PCD), sclerotic bone lesions, elevated vascular endothelial growth factor, and the presence of Castleman disease. Minor features include organomegaly, endocrinopathy, characteristic skin changes, papilledema, extravascular volume overload, and thrombocytosis. Diagnoses are often delayed because the syndrome is rare and can be mistaken for other neurologic disorders, most commonly chronic inflammatory demyelinating polyradiculoneuropathy...
August 2017: American Journal of Hematology
https://www.readbyqxmd.com/read/28625338/acute-diplopia-in-the-pediatric-emergency-department-a-cohort-multicenter-italian-study
#16
Umberto Raucci, Pasquale Parisi, Nicola Vanacore, Francesco La Penna, Valentina Ferro, Lucia Calistri, Claudia Bondone, Fabio Midulla, Agnese Suppiej, Raffaele Falsaperla, Duccio Maria Cordelli, Antonella Palmieri, Alberto Verrotti, Sabrina Becciani, Sonia Aguzzi, Mario Mastrangelo, Federica Pelizza, Filippo Greco, Giulia Carbonari, Ramona Tallone, Gabriella Bottone, Italo Trenta, Stefano Masi, Maria Pia Villa, Antonino Reale
BACKGROUND: Acute diplopia (AD) is an uncommon and distressing symptom of numerous ocular and neurological conditions, with potentially serious sequelaes. No data are present in pediatrics on the presentation and management of AD. AIM: This study investigated characteristics, etiology and health care utilization of the pediatric population with AD accessed to pediatric Emergency Departments (ED), trying to identify "red flags" associated with potentially life-threatening (LT) conditions...
June 3, 2017: European Journal of Paediatric Neurology: EJPN
https://www.readbyqxmd.com/read/28624102/hepatitis-e-virus-a-potential-threat-for-patients-with-liver-disease-and-liver-transplantation
#17
REVIEW
Annemiek A van der Eijk, Suzan D Pas, Robert A de Man
Immunocompromised patients are at risk of acquiring acute hepatitis E virus infection (HEV), leading to chronicity. Chronic HEV infection is associated with persistent viraemia, raised transaminase activity, histological features associated with chronic hepatitis and evidence of rapid development of cirrhosis. Extrahepatic manifestations have been associated with HEV. Most frequently reported are neurological disorders with predominantly involvement of the peripheral nervous system. In patients using immunosuppressive drugs antibody production is often delayed and HEV RNA detection is superior to serology to detect infection...
April 2017: Best Practice & Research. Clinical Gastroenterology
https://www.readbyqxmd.com/read/28595611/video-game-rehabilitation-for-outpatient-stroke-vigorous-protocol-for-a-multi-center-comparative-effectiveness-trial-of-in-home-gamified-constraint-induced-movement-therapy-for-rehabilitation-of-chronic-upper-extremity-hemiparesis
#18
Lynne V Gauthier, Chelsea Kane, Alexandra Borstad, Nancy Strahl, Gitendra Uswatte, Edward Taub, David Morris, Alli Hall, Melissa Arakelian, Victor Mark
BACKGROUND: Constraint-Induced Movement therapy (CI therapy) is shown to reduce disability, increase use of the more affected arm/hand, and promote brain plasticity for individuals with upper extremity hemiparesis post-stroke. Randomized controlled trials consistently demonstrate that CI therapy is superior to other rehabilitation paradigms, yet it is available to only a small minority of the estimated 1.2 million chronic stroke survivors with upper extremity disability. The current study aims to establish the comparative effectiveness of a novel, patient-centered approach to rehabilitation utilizing newly developed, inexpensive, and commercially available gaming technology to disseminate CI therapy to underserved individuals...
June 8, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28570570/a-machine-learning-approach-for-gait-speed-estimation-using-skin-mounted-wearable-sensors-from-healthy-controls-to-individuals-with-multiple-sclerosis
#19
Ryan S McGinnis, Nikhil Mahadevan, Yaejin Moon, Kirsten Seagers, Nirav Sheth, John A Wright, Steven DiCristofaro, Ikaro Silva, Elise Jortberg, Melissa Ceruolo, Jesus A Pindado, Jacob Sosnoff, Roozbeh Ghaffari, Shyamal Patel
Gait speed is a powerful clinical marker for mobility impairment in patients suffering from neurological disorders. However, assessment of gait speed in coordination with delivery of comprehensive care is usually constrained to clinical environments and is often limited due to mounting demands on the availability of trained clinical staff. These limitations in assessment design could give rise to poor ecological validity and limited ability to tailor interventions to individual patients. Recent advances in wearable sensor technologies have fostered the development of new methods for monitoring parameters that characterize mobility impairment, such as gait speed, outside the clinic, and therefore address many of the limitations associated with clinical assessments...
2017: PloS One
https://www.readbyqxmd.com/read/28559930/comparison-of-clinical-and-immunological-findings-in-gnotobiotic-piglets-infected-with-escherichia-coli-o104-h4-outbreak-strain-and-ehec-o157-h7
#20
Bettina Wöchtl, Florian Gunzer, Wilhelm Gerner, Hagen Gasse, Michaela Koch, Zoltán Bagó, Martin Ganter, Herbert Weissenböck, Nora Dinhopl, Sina M Coldewey, Alexandra von Altrock, Karl-Heinz Waldmann, Armin Saalmüller, Kurt Zimmermann, Jörg Steinmann, Jan Kehrmann, Ludger Klein-Hitpass, Jochen Blom, Ralf Ehricht, Ines Engelmann, Isabel Hennig-Pauka
BACKGROUND: Shiga toxin (Stx) producing Escherichia coli (E. coli) (STEC) is the most frequent cause of diarrhoea-positive haemolytic uraemic syndrome (D + HUS) in humans. In 2011, a huge outbreak with an STEC O104:H4 strain in Germany highlighted the limited possibilities for causative treatment of this syndrome. The responsible STEC strain was found to combine Stx production with adherence mechanisms normally found in enteroaggregative E. coli (EAEC). Pathotypes of E. coli evolve and can exhibit different adhesion mechanisms...
2017: Gut Pathogens
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