keyword
MENU ▼
Read by QxMD icon Read
search

Functional neurology

keyword
https://www.readbyqxmd.com/read/28340352/human-epistatic-interaction-controls-il7r-splicing-and-increases-multiple-sclerosis-risk
#1
Gaddiel Galarza-Muñoz, Farren B S Briggs, Irina Evsyukova, Geraldine Schott-Lerner, Edward M Kennedy, Tinashe Nyanhete, Liuyang Wang, Laura Bergamaschi, Steven G Widen, Georgia D Tomaras, Dennis C Ko, Shelton S Bradrick, Lisa F Barcellos, Simon G Gregory, Mariano A Garcia-Blanco
Multiple sclerosis (MS) is an autoimmune disorder where T cells attack neurons in the central nervous system (CNS) leading to demyelination and neurological deficits. A driver of increased MS risk is the soluble form of the interleukin-7 receptor alpha chain gene (sIL7R) produced by alternative splicing of IL7R exon 6. Here, we identified the RNA helicase DDX39B as a potent activator of this exon and consequently a repressor of sIL7R, and we found strong genetic association of DDX39B with MS risk. Indeed, we showed that a genetic variant in the 5' UTR of DDX39B reduces translation of DDX39B mRNAs and increases MS risk...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28340041/bleeding-complications-in-patients-undergoing-intrathecal-drug-delivery-system-implantation
#2
Nafisseh S Warner, Markus A Bendel, Matthew A Warner, Jacob J Strand, Halena M Gazelka, Bryan C Hoelzer, William D Mauck, Tim J Lamer, Daryl J Kor, Susan M Moeschler
Introduction.:  Intrathecal drug delivery systems (IDDSs) have dramatically improved analgesia and the functional status of cancer patients and those with chronic pain states. However, given the close proximity to the neuraxis and frequent concomitant use of antiplatelet or anticoagulant medications, this intervention is not without risk. The goal of this investigation was to determine the incidence of bleeding complications following IDDS placement. Methods.:  This is a retrospective review from 2005 through 2014 of adult patients undergoing IDDS implantation or revision at a tertiary care center...
March 3, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28335576/genome-wide-identification-and-evolutionary-analysis-of-sarcocystis-neurona-protein-kinases
#3
Edwin K Murungi, Henry M Kariithi
The apicomplexan parasite Sarcocystis neurona causes equine protozoal myeloencephalitis (EPM), a degenerative neurological disease of horses. Due to its host range expansion, S. neurona is an emerging threat that requires close monitoring. In apicomplexans, protein kinases (PKs) have been implicated in a myriad of critical functions, such as host cell invasion, cell cycle progression and host immune response evasion. Here, we used various bioinformatics methods to define the kinome of S. neurona and phylogenetic relatedness of its PKs to other apicomplexans...
March 21, 2017: Pathogens
https://www.readbyqxmd.com/read/28334860/genetic-regulation-of-gene-expression-in-the-epileptic-human-hippocampus
#4
Nasir Mirza, Richard Appleton, Sasha Burn, Daniel du Plessis, Roderick Duncan, Jibril Osman Farah, Bjarke Feenstra, Anders Hviid, Vivek Josan, Rajiv Mohanraj, Arif Shukralla, Graeme J Sills, Anthony G Marson, Munir Pirmohamed
Epilepsy is a serious and common neurological disorder. Expression quantitative loci (eQTL) analysis is a vital aid for the identification and interpretation of disease-risk loci. Many eQTLs operate in a tissue- and condition-specific manner. We have performed the first genome-wide cis-eQTL analysis of human hippocampal tissue to include not only normal (n = 22) but also epileptic (n = 22) samples. We demonstrate that disease-associated variants from an epilepsy GWAS meta-analysis and a febrile seizures (FS) GWAS are significantly more enriched with epilepsy-eQTLs than with normal hippocampal eQTLs from two larger independent published studies...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334855/slc30a9-mutation-affecting-intracellular-zinc-homeostasis-causes-a-novel-cerebro-renal-syndrome
#5
Yonatan Perez, Zamir Shorer, Keren Liani-Leibson, Pauline Chabosseau, Rotem Kadir, Michael Volodarsky, Daniel Halperin, Shiran Barber-Zucker, Hanna Shalev, Ruth Schreiber, Libe Gradstein, Evgenia Gurevich, Raz Zarivach, Guy A Rutter, Daniel Landau, Ohad S Birk
A novel autosomal recessive cerebro-renal syndrome was identified in consanguineous Bedouin kindred: neurological deterioration was evident as of early age, progressing into severe intellectual disability, profound ataxia, camptocormia and oculomotor apraxia. Brain MRI was normal. Four of the six affected individuals also had early-onset nephropathy with features of tubulo-interstitial nephritis, hypertension and tendency for hyperkalemia, though none had rapid deterioration of renal function. Genome wide linkage analysis identified an ∼18 Mb disease-associated locus on chromosome 4 (maximal logarithm of odds score 4...
February 9, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28334820/high-resolution-time-course-mapping-of-early-transcriptomic-molecular-and-cellular-phenotypes-in-huntington-s-disease-cag-knock-in-mice-across-multiple-genetic-backgrounds
#6
Seth A Ament, Jocelynn R Pearl, Andrea Grindeland, Jason St Claire, John C Earls, Marina Kovalenko, Tammy Gillis, Jayalakshmi Mysore, James F Gusella, Jong-Min Lee, Seung Kwak, David Howland, Min Young Lee, David Baxter, Kelsey Scherler, Kai Wang, Donald Geman, Jeffrey B Carroll, Marcy E MacDonald, George Carlson, Vanessa C Wheeler, Nathan D Price, Leroy E Hood
Huntington's disease is a dominantly inherited neurodegenerative disease caused by the expansion of a CAG repeat in the HTT gene. In addition to the length of the CAG expansion, factors such as genetic background have been shown to contribute to the age at onset of neurological symptoms. A central challenge in understanding the disease progression that leads from the HD mutation to massive cell death in the striatum is the ability to characterize the subtle and early functional consequences of the CAG expansion longitudinally...
February 27, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334687/neurocognitive-status-in-patients-with-newly-diagnosed-brain-tumors-in-good-neurological-condition-the-impact-of-tumor-type-volume-and-location
#7
Philipp Hendrix, Elisa Hans, Christoph J Griessenauer, Andreas Simgen, Joachim Oertel, Julia Karbach
OBJECTIVE: Neurocognitive function is of great importance in patients with brain tumors. Even patients in good neurological condition may suffer from neurocognitive dysfunction that affects their daily living. The purpose of the present study was to identify risk factors for neurocognitive dysfunction in patients suffering from common supratentorial brain tumors with minor neurological deficits. METHODS: A prospective study evaluating neurocognitive dysfunction in patients with a newly-diagnosed brain tumor in good neurological condition was performed at a major German academic institution...
March 18, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28334392/validation-of-the-nih-toolbox-in-individuals-with-neurologic-disorders
#8
N E Carlozzi, S Goodnight, K B Casaletto, A Goldsmith, R K Heaton, A W K Wong, C M Baum, R Gershon, A W Heinemann, D S Tulsky
Objective: Individuals with spinal cord injury (SCI), traumatic brain injury (TBI), and stroke experience a variety of neurologically related deficits across multiple domains of function. The NIH Toolbox for the Assessment of Neurological and Behavioral Function (NIHTB) examines motor, sensation, cognition, and emotional functioning. The purpose of this paper is to establish the validity of the NIHTB in individuals with neurologic conditions. Methods: Community-dwelling individuals with SCI (n = 209), TBI (n = 184), or stroke (n = 211) completed the NIHTB...
March 18, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28334078/relationships-between-morphologic-and-functional-patterns-in-the-polymicrogyric-cortex
#9
Matteo Lenge, Carmen Barba, Domenico Montanaro, Gayane Aghakhanyan, Francesca Frijia, Renzo Guerrini
Polymicrogyria is a malformation of cortical folding and layering underlying different cognitive and neurological manifestations. The polymicrogyric cortex has heterogeneous morphofunctional patterns, qualitatively described at magnetic resonance imaging (MRI) by variable severity gradients and functional activations. We investigated the link between abnormal cortical folding and cortical function in order to improve surgical planning for patients with polymicrogyria and intractable epilepsy. We performed structural and functional MRI on 14 patients with perisylvian polymicrogyria and adopted surface-based methods to detect alterations of cortical thickness (CT) and local gyrification index (LGI) compared with normal cortex (30 age-matched subjects)...
February 18, 2017: Cerebral Cortex
https://www.readbyqxmd.com/read/28333487/adaptation-of-the-arizona-cognitive-task-battery-for-use-with-the-ts65dn-mouse-model-mus-musculus-of-down-syndrome
#10
Michael R Hunsaker, Genevieve K Smith, Raymond P Kesner
We propose and validate a clear strategy to efficiently and comprehensively characterize neurobehavioral deficits in the Ts65Dn mouse model of Down syndrome. This novel approach uses neurocognitive theory to design and select behavioral tasks that test specific hypotheses concerning the results of Down syndrome. In this article, we model the Arizona Cognitive Task Battery, used to study human populations with Down syndrome, in Ts65Dn mice. We observed specific deficits for spatial memory, impaired long-term memory for visual objects, acquisition and reversal of motor responses, reduced motor dexterity, and impaired adaptive function as measured by nesting and anxiety tasks...
March 23, 2017: Journal of Comparative Psychology
https://www.readbyqxmd.com/read/28333012/cerebral-cortex-regions-selectively-vulnerable-to-radiation-dose-dependent-atrophy
#11
Tyler M Seibert, Roshan Karunamuni, Samar Kaifi, Jeffrey Burkeen, Michael Connor, Anitha Priya Krishnan, Nathan S White, Nikdokht Farid, Hauke Bartsch, Vyacheslav Murzin, Tanya T Nguyen, Vitali Moiseenko, James B Brewer, Carrie R McDonald, Anders M Dale, Jona A Hattangadi-Gluth
PURPOSE AND OBJECTIVES: Neurologic deficits after brain radiation therapy (RT) typically involve decline in higher-order cognitive functions such as attention and memory rather than sensory defects or paralysis. We sought to determine whether areas of the cortex critical to cognition are selectively vulnerable to radiation dose-dependent atrophy. METHODS AND MATERIALS: We measured change in cortical thickness in 54 primary brain tumor patients who underwent fractionated, partial brain RT...
April 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28332424/neuroprotective-effect-of-dl-3-n-butylphthalide-on-patients-with-radiation-induced-brain-injury-a-clinical-retrospective-cohort-study
#12
Xiaoni Zhang, Yi Li, Xiangpen Li, Xiaoming Rong, Yamei Tang, Ying Peng
PURPOSE: To evaluate the neuroprotective effects of Dl-3-n-butylphthalide (NBP) on patients with radiation-induced brain injury, a hospital-based, clinical retrospective cohort study was conducted. PATIENTS AND METHODS: Data was collected on patients diagnosed with radiation-induced brain injury from January 2009 to January 2015 in Department of Neurology, Sun Yat-Sen Memorial Hospital. All patients enrolled have received cranial radiotherapy and were diagnosed with radiation-induced brain injury...
March 23, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28332157/systematic-overdosing-of-oxa-and-cloxacillin-in-severe-infections-treated-in-icu-risk-factors-and-side-effects
#13
Mathilde Neuville, Najoua El-Helali, Eric Magalhaes, Aguila Radjou, Roland Smonig, Jean-François Soubirou, Guillaume Voiriot, Alban Le Monnier, Stéphane Ruckly, Lila Bouadma, Romain Sonneville, Jean-François Timsit, Bruno Mourvillier
BACKGROUND: Oxacillin and cloxacillin are the most frequently used penicillins for the treatment of severe methicillin-susceptible Staphylococcus aureus infections in intensive care units (ICUs), especially endocarditis. International recommendations do not suggest any adaptation of the dosage in case of renal impairment. We wanted to assess the risk factors for overdosing in ICU and the related observed side effects. METHODS: All patients with a therapeutic drug monitoring of oxa- or cloxacillin between 2008 and 2014 were included...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28332008/case-of-adult-onset-neuronal-intranuclear-hyaline-inclusion-disease-with-negative-electroretinogram
#14
Wataru Yamada, Akira Takekoshi, Kyoko Ishida, Kiyofumi Mochizuki, Jun Sone, Gen Sobue, Yuichi Hayashi, Takashi Inuzuka, Yozo Miyake
PURPOSE: To report the findings in a 72-year-old man with neuronal intranuclear hyaline inclusion disease (NIHID) with the negative-type electroretinogram (ERG) and without night blindness. METHODS: Standard ophthalmological examinations including the medical history, measurements of the best-corrected visual acuity and intraocular pressures, slit-lamp biomicroscopy, ophthalmoscopy, spectral-domain optical coherence tomography, fundus autofluorescence, and perimetry were performed...
March 22, 2017: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/28331874/the-importance-of-constructive-feedback-implications-of-top-down-regulation-in-the-development-of-neural-circuits
#15
Andrew D Thompson, Chinfei Chen
Neural circuits in sensory pathways develop through a general strategy of overproduction of synapses followed by activity-driven pruning to fine-tune connectivity for optimal function. The early visual pathway, consisting of the retina → visual thalamus → primary visual cortex, has served for decades as a powerful model system for probing the mechanisms and logic of this process. In addition to these feedforward projections, the early visual pathway also includes a substantial feedback component in the form of corticothalamic projections from the deepest layer of primary visual cortex...
2017: Neurogenesis (Austin, Tex.)
https://www.readbyqxmd.com/read/28331770/traditional-food-items-in-ogimi-okinawa-l-serine-content-and-the-potential-for-neuroprotection
#16
REVIEW
Paul Alan Cox, James S Metcalf
PURPOSE OF REVIEW: Ogimi village is renowned for its aging population. We sought to determine if the l-serine content of their diet could account for their neurological health. RECENT FINDINGS: The most frequently consumed food items, including tofu and seaweeds, are rich in the dietary amino acid l-serine. l-serine content of the Ogimi diet >8 grams/day for Ogimi women significantly exceeds the average American dietary intake of 2.5 grams/day for women >70 years old...
2017: Current Nutrition Reports
https://www.readbyqxmd.com/read/28331639/emerging-synaptic-molecules-as-candidates-in-the-etiology-of-neurological-disorders
#17
REVIEW
Viviana I Torres, Daniela Vallejo, Nibaldo C Inestrosa
Synapses are complex structures that allow communication between neurons in the central nervous system. Studies conducted in vertebrate and invertebrate models have contributed to the knowledge of the function of synaptic proteins. The functional synapse requires numerous protein complexes with specialized functions that are regulated in space and time to allow synaptic plasticity. However, their interplay during neuronal development, learning, and memory is poorly understood. Accumulating evidence links synapse proteins to neurodevelopmental, neuropsychiatric, and neurodegenerative diseases...
2017: Neural Plasticity
https://www.readbyqxmd.com/read/28330539/-state-of-the-art-work-up-of-dementia-disorder
#18
Steen Gregers Hasselbalch
Early diagnosis of a dementia disorder is required for early support, treatment and information. A basic programme including history taking, somatic and neurological examination, blood screening and a structural scan will suffice in typical cases. For patients with uncertain or atypical symptoms or disease course, supplementary investigations are warranted, including biomarkers in cerebrospinal fluid, functional imaging and neuropsychological testing. Also, imaging of specific protein accumulations in Alzheimer's disease may serve to monitor disease progression and effects of interventions...
March 20, 2017: Ugeskrift for Laeger
https://www.readbyqxmd.com/read/28330489/profiling-intraoral-neuropathic-disturbances-following-lingual-nerve-injury-and-in-burning-mouth-syndrome
#19
Amely Hartmann, Robin Seeberger, Malte Bittner, Roman Rolke, Claudia Welte-Jzyk, Monika Daubländer
BACKGROUND: The aim of the study was to analyse intraoral neurophysiological changes in patients with unilateral lingual nerve lesions as well as patients with Burning Mouth Syndrome (BMS) by applying a standardized Quantitative Sensory Testing (QST) protocol. METHODS: The study included patients suffering from a peripheral lesion of the lingual nerve (n = 4), from BMS (n = 5) and healthy controls (n = 8). Neurophysiological tests were performed in the innervation areas of the tongue bilaterally...
March 23, 2017: BMC Oral Health
https://www.readbyqxmd.com/read/28330447/cigarette-smoking-is-an-independent-risk-factor-for-post-stroke-delirium
#20
Tae Sung Lim, Jin Soo Lee, Jung Han Yoon, So Young Moon, In Soo Joo, Kyoon Huh, Ji Man Hong
BACKGROUND: Post-stroke delirium is a common problem in the care of stroke patients, and is associated with longer hospitalization, high short-term mortality, and an increased need for long-term care. Although post-stroke delirium occurs in approximately 10 ~ 30% of patients, little is known about the risk factors for post-stroke delirium in patients who experience acute stroke. METHODS: A total of 576 consecutive patients who experienced ischemic stroke (mean age, 65...
March 23, 2017: BMC Neurology
keyword
keyword
22321
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"