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https://www.readbyqxmd.com/read/28549134/transdiagnostic-neurology-neuropsychiatric-symptoms-in-neurodegenerative-diseases
#1
Masud Husain
No abstract text is available yet for this article.
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28549128/atad3-gene-cluster-deletions-cause-cerebellar-dysfunction-associated-with-altered-mitochondrial-dna-and-cholesterol-metabolism
#2
Radha Desai, Ann E Frazier, Romina Durigon, Harshil Patel, Aleck W Jones, Ilaria Dalla Rosa, Nicole J Lake, Alison G Compton, Hayley S Mountford, Elena J Tucker, Alice L R Mitchell, Deborah Jackson, Abdul Sesay, Miriam Di Re, Lambert P van den Heuvel, Derek Burke, David Francis, Sebastian Lunke, George McGillivray, Simone Mandelstam, Fanny Mochel, Boris Keren, Claude Jardel, Anne M Turner, P Ian Andrews, Jan Smeitink, Johannes N Spelbrink, Simon J Heales, Masakazu Kohda, Akira Ohtake, Kei Murayama, Yasushi Okazaki, Anne Lombès, Ian J Holt, David R Thorburn, Antonella Spinazzola
Although mitochondrial disorders are clinically heterogeneous, they frequently involve the central nervous system and are among the most common neurogenetic disorders. Identifying the causal genes has benefited enormously from advances in high-throughput sequencing technologies; however, once the defect is known, researchers face the challenge of deciphering the underlying disease mechanism. Here we characterize large biallelic deletions in the region encoding the ATAD3C, ATAD3B and ATAD3A genes. Although high homology complicates genomic analysis of the ATAD3 defects, they can be identified by targeted analysis of standard single nucleotide polymorphism array and whole exome sequencing data...
June 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28549074/cwdprnp-a-tool-for-cervid-prion-sequence-analysis-in-program-r
#3
William L Miller, W David Walter
Summary: Chronic wasting disease is a fatal neurological, disease caused by an infectious prion protein, which affects economically and ecologically important members of the family Cervidae. Single nucleotide polymorphisms within the prion protein gene have been linked to differential susceptibility to the disease in many species. Wildlife managers are seeking to determine the frequencies of disease-associated alleles and genotypes and delineate spatial genetic patterns. The CWDPRNP package, implemented in program R, provides a unified framework for analyzing prion protein gene variability and spatial structure...
May 26, 2017: Bioinformatics
https://www.readbyqxmd.com/read/28548612/multiple-sclerosis-serum-anti-cns-autoantibodies
#4
John W Prineas, John D E Parratt
BACKGROUND: It is uncertain whether there are autoantibodies detectable by indirect immunofluorescence in the serum of patients with multiple sclerosis (MS). OBJECTIVE: To determine whether there are anti-central nervous system (CNS) autoantibodies detectable by indirect immunofluorescence in the serum of MS patients. METHODS: Sera and in some cases cerebrospinal fluid from 106 patients with multiple sclerosis, 156 patients with other neurological diseases, and 70 healthy control subjects were examined by indirect immunofluorescence using cryostat sections of rat cerebrum fixed by perfusion with paraformaldehyde...
May 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28548599/an-extent-of-resection-threshold-for-seizure-freedom-in-patients-with-low-grade-gliomas
#5
David S Xu, Al-Wala Awad, Chad Mehalechko, Jeffrey R Wilson, Lynn S Ashby, Stephen W Coons, Nader Sanai
OBJECTIVE Seizures are the most common presenting symptom of newly diagnosed WHO Grade II gliomas (low-grade glioma [LGG]) and significantly impair quality of life. Although gross-total resection of LGG is associated with better seizure control, it remains unclear whether an extent of resection (EOR) "threshold" exists for long-term seizure control. Specifically, what proportion of FLAIR-positive tissue in patients with newly diagnosed LGG must be removed to achieve Engel Class I seizure freedom? To clarify the EOR threshold for long-term seizure control, the authors analyzed data from a consecutive series of patients with newly diagnosed LGG who presented with seizures and subsequently underwent microsurgical resection...
May 26, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28548544/neuropsychological-impairment-in-hashimoto-s-encephalopathy-a-case-report-and-literature-review
#6
Liorah Sabbah-Talasazan, Irene Piryatinsky
Hashimoto's encephalopathy (HE) is a rare neurological syndrome characterized by the presence of positive serum antithyroid antibodies, altered mental status, and clinical response to glucocorticoid therapy. Although HE has been documented in the literature from a medical standpoint, reports on the neuropsychological presentation of this syndrome are scarce. This article presents a literature review of cognitive deficits reported in HE cases. In addition, we describe the case of a 76-year-old Russian speaking woman diagnosed with HE in May 2012...
May 26, 2017: Applied Neuropsychology. Adult
https://www.readbyqxmd.com/read/28548250/evolution-of-deep-gray-matter-volume-across-the-human-lifespan
#7
Karl Narvacan, Sarah Treit, Richard Camicioli, Wayne Martin, Christian Beaulieu
Magnetic resonance imaging of subcortical gray matter structures, which mediate behavior, cognition and the pathophysiology of several diseases, is crucial for establishing typical maturation patterns across the human lifespan. This single site study examines T1-weighted MPRAGE images of 3 healthy cohorts: (i) a cross-sectional cohort of 406 subjects aged 5-83 years; (ii) a longitudinal neurodevelopment cohort of 84 subjects scanned twice approximately 4 years apart, aged 5-27 years at first scan; and (iii) a longitudinal aging cohort of 55 subjects scanned twice approximately 3 years apart, aged 46-83 years at first scan...
May 26, 2017: Human Brain Mapping
https://www.readbyqxmd.com/read/28548026/low-reliability-of-anti-kir4-183-120-peptide-auto-antibodies-in-multiple-sclerosis-patients
#8
Mariapaola Marino, Giovanni Frisullo, Gabriele Di Sante, Daniela Maria Samengo, Carlo Provenzano, Massimiliano Mirabella, Giovambattista Pani, Francesco Ria, Emanuela Bartoccioni
BACKGROUND: Multiple sclerosis (MS) is an autoimmune disease for which auto-antibodies fully validated as diagnostic and prognostic biomarkers are widely desired. Recently, an immunoreactivity against the inward rectifying potassium channel 4.1 (KIR4.1) has been reported in a large proportion of a group of MS patients, with amino acids 83-120 being the major epitope. Moreover, a strong correlation between anti-KIR4.183-120 and anti-full-length-protein auto-antibodies titer was reported...
May 1, 2017: Multiple Sclerosis: Clinical and Laboratory Research
https://www.readbyqxmd.com/read/28547320/real-time-noninvasive-monitoring-of-intracranial-fluid-shifts-during-dialysis-using-volumetric-integral-phase-shift-spectroscopy-vips-a-proof-of-concept-study
#9
Chethan P Venkatasubba Rao, Eric M Bershad, Eusebia Calvillo, Nelson Maldonado, Rahul Damani, Sreedhar Mandayam, Jose I Suarez
BACKGROUND: Cerebral edema, which is associated with increased intracranial fluid, is often a complication of many acute neurological conditions. There is currently no accepted method for real-time monitoring of intracranial fluid volume at the bedside. We evaluated a novel noninvasive technique called "Volumetric Integral Phase-shift Spectroscopy (VIPS)" for detecting intracranial fluid shifts during hemodialysis. METHODS: Subjects receiving scheduled hemodialysis for end-stage renal disease and without a history of major neurological conditions were enrolled...
May 25, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28547180/role-of-antioxidant-treatment-on-dna-and-lipid-damage-in-the-brain-of-rats-subjected-to-a-chemically-induced-chronic-model-of-tyrosinemia-type-ii
#10
Emilio L Streck, Samira D T De Prá, Paula Ronsani Ferro, Milena Carvalho-Silva, Lara M Gomes, Jotele F Agostini, Adriani Damiani, Vanessa M Andrade, Patrícia F Schuck, Gustavo C Ferreira, Giselli Scaini
Tyrosine levels are abnormally elevated in tissues and body fluids of patients with inborn errors of tyrosine metabolism. Tyrosinemia type II, which is caused by tyrosine aminotransferase deficiency, provokes eyes, skin, and central nervous system disturbances in affected patients. However, the mechanisms of brain damage are still poorly known. Considering that studies have demonstrated that oxidative stress may contribute, along with other mechanisms, to the neurological dysfunction characteristic of hypertyrosinemia, in the present study we investigated the effects of antioxidant treatment (NAC and DFX) on DNA damage and oxidative stress markers induced by chronic administration of L-tyrosine in cerebral cortex, hippocampus, and striatum of rats...
May 25, 2017: Molecular and Cellular Biochemistry
https://www.readbyqxmd.com/read/28546997/pharmacogenomic-findings-from-clinical-whole-exome-sequencing-of-diagnostic-odyssey-patients
#11
Margot A Cousin, Eric T Matey, Patrick R Blackburn, Nicole J Boczek, Tammy M McAllister, Teresa M Kruisselbrink, Dusica Babovic-Vuksanovic, Konstantinos N Lazaridis, Eric W Klee
BACKGROUND: We characterized the pharmacogenomics (PGx) results received by diagnostic odyssey patients as secondary findings during clinical whole exome sequencing (WES) testing as a part of their care in Mayo Clinic's Individualized Medicine Clinic to determine the potential benefits and limitations to this cohort. METHODS: WES results on 94 patients included a subset of PGx variants in CYP2C19,CYP2C9, and VKORC1 if identified in the patient. Demographic, phenotypic, and medication usage information was abstracted from patient medical data...
May 2017: Molecular Genetics & Genomic Medicine
https://www.readbyqxmd.com/read/28546103/neurological-manifestations-of-beh%C3%A3-et-s-disease-case-report-and-literature-review
#12
Alba López Bravo, Carlos Parra Soto, Elena Bellosta Diago, Álvaro Cecilio Irazola, Sonia Santos-Lasaosa
Neurological involvement in Behçet's disease is rare, especially at the onset. It can present in the form of parenchymal changes or as damage to the vascular structures in its nonparenchymal form. The coexistence of both kinds of manifestations in the same patient is exceptional. We report the case of a 32-year-old patient with a history of deep venous thrombosis, who was being treated for holocranial headache, apathy, and oral and genital ulcers. Brain magnetic resonance imaging showed hyperintense lesions in the basal ganglia and white matter, and the vascular study evidenced venous thrombosis of the left transverse sinus...
May 22, 2017: Reumatología Clinica
https://www.readbyqxmd.com/read/28545782/autoimmune-encephalopathy-for-psychiatrists-when-to-suspect-autoimmunity-and-what-to-do-next
#13
REVIEW
Mark Oldham
OBJECTIVE: To provide a critical review of autoimmune encephalopathy-broadly defined as neuropsychiatric features directly related to an autoimmune process-relevant for psychiatric practice. METHODS: We consulted rheumatology textbooks to define the scope of autoimmune conditions and identified recent reviews of rheumatic conditions, autoimmune vasculitis, and autoimmune encephalitis. We integrated these with primary reports to provide a clinically relevant overview of autoimmune encephalopathy...
May 2017: Psychosomatics
https://www.readbyqxmd.com/read/28545366/role-of-positron-emission-tomography-for-central-nervous-system-involvement-in-systemic-autoimmune-diseases-status-and-perspectives
#14
Daniele Mauro, Gaetano Barbagallo, Salvatore D'Angelo, Sannino Pasqualina, Saverio Naty, Caterina Bruno, Ignazio Olivieri, Rosa Daniela Grembiale, Francesco Ursini
In the last years, an increasing interest in molecular imaging has been raised by the extending potential of positron emission tomography (PET). The role of PET imaging, originally confined to the oncology setting, is continuously extending thanks to the development of novel radiopharmaceutical and to the implementation of hybrid imaging techniques, where PET scans are combined with computed tomography (CT) or magnetic resonance imaging(MRI) in order to improve spatial resolution. Early preclinical studies suggested that 18F-FDG PET can detect neuroinflammation; new developing radiopharmaceuticals targeting more specifically inflammation-related molecules are moving in this direction...
May 23, 2017: Current Medicinal Chemistry
https://www.readbyqxmd.com/read/28545363/sleep-wake-patterns-and-cognition-of-older-adults-with-amnestic-mild-cognitive-impairment-amci-a-comparison-with-cognitively-healthy-adults-and-moderate-alzheimer-s-disease-patients
#15
Emma J Wams, Gordon K Wilcock, Russell G Foster, Katharina Wulff
Age-related cognitive impairment and the prevalence of neurodegenerative disease contribute to decreasing quality of life in affected individuals and their families as well as demand considerable societal responsibility. Sleep supports overall brain activity and contributes to both physical and mental health. As a result sleep is an attractive target for exploring ways to promote health in accelerated cognitive aging. The aims of this study were to characterise cognitive performance and sleep-wake behaviour in older adults with different degrees of cognitive impairment...
May 22, 2017: Current Alzheimer Research
https://www.readbyqxmd.com/read/28545252/cpg-and-non-cpg-methylation-in-epigenetic-gene-regulation-and-brain-function
#16
REVIEW
Hyun Sik Jang, Woo Jung Shin, Jeong Eon Lee, Jeong Tae Do
DNA methylation is a major epigenetic mark with important roles in genetic regulation. Methylated cytosines are found primarily at CpG dinucleotides, but are also found at non-CpG sites (CpA, CpT, and CpC). The general functions of CpG and non-CpG methylation include gene silencing or activation depending on the methylated regions. CpG and non-CpG methylation are found throughout the whole genome, including repetitive sequences, enhancers, promoters, and gene bodies. Interestingly, however, non-CpG methylation is restricted to specific cell types, such as pluripotent stem cells, oocytes, neurons, and glial cells...
May 23, 2017: Genes
https://www.readbyqxmd.com/read/28545161/classic-galactosemia-study-on-the-late-prenatal-development-of-galt-specific-activity-in-a-sheep-model
#17
Ana I Coelho, Jörgen Bierau, Martijn Lindhout, Jelle Achten, Boris W Kramer, M Estela Rubio-Gozalbo
BACKGROUND: Classic galactosemia results from deficient activity of galactose-1-phosphate uridylyltransferase (GALT), a key enzyme of galactose metabolism. Despite early diagnosis and early postnatal therapeutic intervention, patients still develop neurologic and fertility impairments. Prenatal developmental toxicity has been hypothesized as a determinant factor of disease. In order to shed light on the importance of prenatal GALT activity, several studies have examined GALT activity throughout development...
May 25, 2017: Anatomical Record: Advances in Integrative Anatomy and Evolutionary Biology
https://www.readbyqxmd.com/read/28545069/behavioral-alterations-are-associated-with-vitamin-b12-deficiency-in-the-transcobalamin-receptor-cd320-ko-mouse
#18
Kaveri Arora, Jeffrey M Sequeira, Alejandro I Hernández, Juan M Alarcon, Edward V Quadros
Vitamin B12 (cobalamin) deficiency is prevalent worldwide and causes megaloblastic anemia and neurologic deficits. While the anemia can be treated, the neurologic deficits can become refractive to treatment as the disease progresses. Therefore, timely intervention is critical for a favorable outcome. Moreover, the metabolic basis for the neuro-pathologic changes and the role of cobalamin deficiency in the pathology still remains unexplained. Using a transcobalamin receptor / CD320 knockout mouse that lacks the receptor for cellular uptake of transcobalamin bound cobalamin, we aimed to determine whether cobalamin deficiency in the central nervous system produced functional neurologic deficits in the mouse that would parallel those observed in humans...
2017: PloS One
https://www.readbyqxmd.com/read/28544918/senior-driving-under-the-influence-a-five-year-retrospective-study-of-alcoholized-road-users-aged-70-and-over
#19
Benjamin Kirsch, Christoph G Birngruber, Reinhard Dettmeyer
The demographic development in Germany shows a steady increase to senior citizens. The driving suitability of older road-users is of large social and political concern, because awareness and reactivity can be influenced by age-related diseases and potential medication, particularly in combination with the consumption of alcohol. This study provides an overview of senior road-users under the influence of alcohol. Therefore, 404 cases of drunken-driving by road-users aged 70 and over within the purview of the Institute of Legal Medicine at Justus-Liebig-University, Giessen, from the years 2009-2013 were evaluated in retrospect...
May 10, 2017: Forensic Science International
https://www.readbyqxmd.com/read/28544614/proteomic-profiling-of-the-hypothalamus-in-two-mouse-models-of-narcolepsy
#20
Sausan Azzam, Daniela Schlatzer, David Nethery, Dania Saleh, Xiaolin Li, Afaf Akladious, Mark R Chance, Kingman P Strohl
Narcolepsy is a disabling neurological disorder of sleepiness linked to the loss of neurons producing orexin neuropeptides in the hypothalamus. Two well characterized phenotypic mouse models of narcolepsy, loss-of-function (orexin-knockout) and progressive loss of orexin (orexin/ataxin-3) exist. The open question is whether the proteomics signatures of the hypothalamus would be different between the two models. To address this gap, we utilized a label-free proteomics approach and conducted a hypothalamic proteome analysis by comparing each disease model to that of wild type...
May 22, 2017: Proteomics
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