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clinical neurology

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https://www.readbyqxmd.com/read/28545185/the-ability-of-the-eating-assessment-tool-10-to-detect-aspiration-in-patients-with-neurological-disorders
#1
Selen Serel Arslan, Numan Demir, Hasan E Kılınç, Aynur A Karaduman
Background/Aims: Dysphagia is common in patients with neurological disorders. There is a need to identify patients at risk early by a useful clinical tool to prevent its serious complications. The study aims to determine the ability of the Eating Assessment Tool-10 (EAT-10) to detect aspiration in patients with neurological disorders. Methods: Two hundred fifty-nine patients with neurological disorders who had complaints about swallowing difficulty and referred for a swallowing evaluation were included...
May 24, 2017: Journal of Neurogastroenterology and Motility
https://www.readbyqxmd.com/read/28544614/proteomic-profiling-of-the-hypothalamus-in-two-mouse-models-of-narcolepsy
#2
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
https://www.readbyqxmd.com/read/28544318/neurologic-clinical-signs-in-cattle-with-astrovirus-associated-encephalitis
#3
R Deiss, S Selimovic-Hamza, T Seuberlich, M Meylan
BACKGROUND: Evidence of neurotropic astroviruses has been established using novel genetic methods in cattle suffering from viral encephalitis of previously unknown origin. OBJECTIVES: To describe the clinical signs observed in cattle with astrovirus-associated encephalitis. ANIMALS: Eight cattle (4 cows, 3 heifers, and 1 bull of 4 different breeds) admitted to the Clinic for Ruminants for neurologic disease and 1 cow investigated in the field...
May 22, 2017: Journal of Veterinary Internal Medicine
https://www.readbyqxmd.com/read/28544000/european-academy-of-neurology-european-association-for-palliative-care-taskforce-on-neurology-consensus-recommendations-on-palliative-care-for-patients-with-chronic-and-progressive-neurological-disease-acceptability-for-belgian-neurologists
#4
L J Vanopdenbosch, E Maes, D J Oliver
BACKGROUND AND PURPOSE: A Consensus document on palliative care and neurology has made recommendations on the care of people with chronic and progressive neurological disease. This study aimed to investigate whether these recommendations are understood by, acceptable to and used in practice by neurologists in Belgium. METHODS: An online survey was undertaken of 100 neurologists in Belgium, asking for their opinion on all of the recommendations in the Consensus document...
May 23, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28542865/disruption-of-ywhae-gene-at-17p13-3-causes-learning-disabilities-and-brain-abnormalities
#5
Abdul Noor, Simina Bogatan, Nicholas Watkins, Wendy S Meschino, Dimitri J Stavropoulos
There is a broad phenotypic spectrum of patients with 17p13.3 deletions. One of the most prominent features is lissencephaly caused by haploinsufficiency of the gene PAFAH1B1. The deletion of this gene and those distal to it, results in Miller-Dieker syndrome, however there have been many reports of patients with haploinsufficiency of the distal genes alone. The deletions of these genes including YWHAE, CRK and TUSC5 have been studied extensively and YWHAE has been postulated to be the cause of neurological abnormalities...
May 23, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28542837/phenotype-and-natural-history-of-variant-late-infantile-ceroid-lipofuscinosis-5
#6
Alessandro Simonati, Ruth E Williams, Nardo Nardocci, Minna Laine, Roberta Battini, Angela Schulz, Barbara Garavaglia, Francesca Moro, Francesco Pezzini, Filippo M Santorelli
AIM: To characterize the phenotypic profile of a cohort of children affected with CLN5, a rare form of neuronal ceroid-lipofuscinosis (NCL), and to trace the features of the natural history of the disease. METHOD: Records of 15 children (nine males, six females) were obtained from the data sets of the DEM-CHILD International NCL Registry. Disease progression was measured by rating six functional domains at different time points along the disease course. All patients underwent mutation analysis of the CLN5 gene and ultrastructural investigations of peripheral tissues...
May 25, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28542743/neuroimaging-cardiovascular-physiology-and-functional-outcomes-in-infants-with-congenital-heart-disease
#7
REVIEW
Nathalie H P Claessens, Christopher J Kelly, Serena J Counsell, Manon J N L Benders
This review integrates data on brain dysmaturation and acquired brain injury using fetal and neonatal magnetic resonance imaging (MRI), including the contribution of cardiovascular physiology to differences in brain development, and the relationship between brain abnormalities and subsequent neurological impairments in infants with congenital heart disease (CHD). The antenatal and neonatal period are critical for optimal brain development; the developing brain is particularly vulnerable to haemodynamic disturbances during this time...
May 19, 2017: Developmental Medicine and Child Neurology
https://www.readbyqxmd.com/read/28542676/detailed-clinical-phenotype-and-molecular-genetic-findings-in-cln3-associated-isolated-retinal-degeneration
#8
Cristy A Ku, Sarah Hull, Gavin Arno, Ajoy Vincent, Keren Carss, Robert Kayton, Douglas Weeks, Glenn W Anderson, Ryan Geraets, Camille Parker, David A Pearce, Michel Michaelides, Robert E MacLaren, Anthony G Robson, Graham E Holder, Elise Heon, F Lucy Raymond, Anthony T Moore, Andrew R Webster, Mark E Pennesi
Importance: Mutations in genes traditionally associated with syndromic retinal disease are increasingly found to cause nonsyndromic inherited retinal degenerations. Mutations in CLN3 are classically associated with juvenile neuronal ceroid lipofuscinosis, a rare neurodegenerative disease with early retinal degeneration and progressive neurologic deterioration, but have recently also been identified in patients with nonsyndromic inherited retinal degenerations. To our knowledge, detailed clinical characterization of such cases has yet to be reported...
May 25, 2017: JAMA Ophthalmology
https://www.readbyqxmd.com/read/28542306/gene-signature-associated-with-benign-neurofibroma-transformation-to-malignant-peripheral-nerve-sheath-tumors
#9
Marta Martínez, Carlos O S Sorzano, Alberto Pascual-Montano, Jose M Carazo
Benign neurofibromas, the main phenotypic manifestations of the rare neurological disorder neurofibromatosis type 1, degenerate to malignant tumors associated to poor prognosis in about 10% of patients. Despite efforts in the field of (epi)genomics, the lack of prognostic biomarkers with which to predict disease evolution frustrates the adoption of appropriate early therapeutic measures. To identify potential biomarkers of malignant neurofibroma transformation, we integrated four human experimental studies and one for mouse, using a gene score-based meta-analysis method, from which we obtained a score-ranked signature of 579 genes...
2017: PloS One
https://www.readbyqxmd.com/read/28542277/first-report-of-a-japanese-family-with-spinocerebellar-ataxia-type-10-the-second-report-from-asia-after-a-report-from-china
#10
Hiroyuki Naito, Tetsuya Takahashi, Masaki Kamada, Hiroyuki Morino, Hiroyo Yoshino, Nobutaka Hattori, Hirofumi Maruyama, Hideshi Kawakami, Masayasu Matsumoto
Spinocerebellar ataxia type 10 (SCA10) is an autosomal-dominant cerebellar ataxia that is variably accompanied by epilepsy and other neurological disorders. It is caused by an expansion of the ATTCT pentanucleotide repeat in intron 9 of the ATXN10 gene. Until now, SCA10 was almost exclusively found in the American continents, while no cases had been identified in Japan. Here, we report the first case of an SCA10 family from Japan. The clinical manifestations in our cases were cerebellar ataxia accompanied by epilepsy, hyperreflexia and cognitive impairment...
2017: PloS One
https://www.readbyqxmd.com/read/28541503/reduced-efficacy-of-the-pipeline-embolization-device-in-the-treatment-of-posterior-communicating-region-aneurysms-with-fetal-posterior-cerebral-artery-configuration
#11
Anil K Roy, Brian M Howard, Diogo C Haussen, Joshua W Osbun, Sameer H Halani, Susana L Skukalek, Frank Tong, Raul G Nogueira, Jacques E Dion, Charles M Cawley, Jonathan A Grossberg
BACKGROUND: Aneurysms at the origin of the posterior communicating artery (PcommA) have been demonstrated to be effectively treated with the pipeline embolization device (PED). Much less is known about the efficacy of the PED for aneurysms associated with a fetal posterior cerebral artery (fPCA) variant. OBJECTIVE: To study PED treatment efficacy of PcommA aneurysms, including fPCA aneurysms. METHODS: A prospectively maintained university database of aneurysm patients treated with the PED was retrospectively reviewed...
May 25, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28541374/motor-function-and-incident-dementia-a-systematic-review-and-meta-analysis
#12
Jacqueline Kathleen Kueper, Mark Speechley, Navena Rebecca Lingum, Manuel Montero-Odasso
Background: cognitive and mobility decline are interrelated processes, whereby mobility decline coincides or precedes the onset of cognitive decline. Objective: to assess whether there is an association between performance on motor function tests and incident dementia. Methods: electronic database, grey literature and hand searching identified studies testing for associations between baseline motor function and incident dementia in older adults...
May 25, 2017: Age and Ageing
https://www.readbyqxmd.com/read/28541234/psychiatric-specialty-training-in-greece
#13
EDITORIAL
M Margariti, V Kontaxakis, D Ploumpidis
The reform and development of psychiatric services require, in addition to financial resources, reserves in specialized human resources. The role of psychiatrists in this process, and at reducing the consequences of mental morbidity is evident. Psychiatrists are required to play a multifaceted role as clinicians, as experts in multidisciplinary team environments and as advisors in the recognition of public needs in mental health issues, as teachers and mentors for students and other health professionals, as researchers in order to enrich our knowledge in the scientific field of psychiatry, and as public health specialists in the development of the mental health services system...
January 2017: Psychiatrikē, Psychiatriki
https://www.readbyqxmd.com/read/28540778/ex-vivo-optimisation-of-a-heterogeneous-speed-of-sound-model-of-the-human-skull-for-non-invasive-transcranial-focused-ultrasound-at-1%C3%A2-mhz
#14
L Marsac, D Chauvet, R La Greca, A-L Boch, K Chaumoitre, M Tanter, J-F Aubry
Transcranial brain therapy has recently emerged as a non-invasive strategy for the treatment of various neurological diseases, such as essential tremor or neurogenic pain. However, treatments require millimetre-scale accuracy. The use of high frequencies (typically ≥1 MHz) decreases the ultrasonic wavelength to the millimetre scale, thereby increasing the clinical accuracy and lowering the probability of cavitation, which improves the safety of the technique compared with the use of low-frequency devices that operate at 220 kHz...
March 7, 2017: International Journal of Hyperthermia
https://www.readbyqxmd.com/read/28540771/identifying-therapeutic-targets-for-alzheimer-s-disease-with-big-data
#15
Nilüfer Ertekin-Taner
Nilüfer Ertekin-Taner is a Professor of Neuroscience and Neurology at the Mayo Clinic, Jacksonville, FL, USA. A neurogeneticist and board-certified behavioral neurologist, she received her medical degree from Hacettepe University Medical School in Ankara, Turkey and her doctorate degree in Molecular Neuroscience from Mayo Graduate School. She completed her residency training in the Department of Neurology at Mayo Clinic in Rochester (MN, USA) and fellowship in Behavioral Neurology at Mayo Clinic in Jacksonville...
April 2017: Neurodegenerative Disease Management
https://www.readbyqxmd.com/read/28540757/association-of-tuberculosis-status-with-neurologic-disease-and-immune-response-in-htlv-1-infection
#16
Anselmo Souza, Natália Carvalho, Yuri Neves, Silvane Braga Santos, Maria de Lourdes Bastos, Sergio Arruda, Eduardo Martins Netto, Marshall Glesby, Edgar Carvalho
The human T-cell lymphotropic virus type 1 (HTLV-1) is the etiologic agent of HTLV-1-associated myelopathy/tropical spastic paraparesis (HAM/TSP). HTLV-1 infected individuals have increased susceptibility to Mycobacterium tuberculosis infection but the influence of tuberculosis on the course of HTLV-1 infection is unknown. The aim of this study was to evaluate the influence of tuberculosis on immunological, virologic, and neurologic features of HTLV-1 infection. This is a retrospective analysis of individuals enrolled in a cohort study from an HTLV-1 clinic who were evaluated for past or latent tuberculosis and classified clinically as HTLV-1 carriers, probable HAM/TSP and definite HAM/TSP...
May 25, 2017: AIDS Research and Human Retroviruses
https://www.readbyqxmd.com/read/28540752/herpes-zoster-typical-and-atypical-presentations
#17
Roy Rafael Dayan, Roni Peleg
Varicella- zoster virus infection is an intriguing medical entity that involves many medical specialties including infectious diseases, immunology, dermatology, and neurology. It can affect patients from early childhood to old age. Its treatment requires expertise in pain management and psychological support. While varicella is caused by acute viremia, herpes zoster occurs after the dormant viral infection, involving the cranial nerve or sensory root ganglia, is re-activated and spreads orthodromically from the ganglion, via the sensory nerve root, to the innervated target tissue (skin, cornea, auditory canal, etc...
May 25, 2017: Postgraduate Medicine
https://www.readbyqxmd.com/read/28540600/microglial-interferon-signaling-and-white-matter
#18
Ashley McDonough, Richard V Lee, Jonathan R Weinstein
Microglia, the resident immune cells of the CNS, are primary regulators of the neuroimmune response to injury. Type I interferons (IFNs), including the IFNαs and IFNβ, are key cytokines in the innate immune system. Their activity is implicated in the regulation of microglial function both during development and in response to neuroinflammation, ischemia, and neurodegeneration. Data from numerous studies in multiple sclerosis (MS) and stroke suggest that type I IFNs can modulate the microglial phenotype, influence the overall neuroimmune milieu, regulate phagocytosis, and affect blood-brain barrier integrity...
May 25, 2017: Neurochemical Research
https://www.readbyqxmd.com/read/28540180/hemoglobin-and-mean-platelet-volume-predicts-diffuse-t1-mri-white-matter-volume-decrease-in-sickle-cell-disease-patients
#19
Soyoung Choi, Adam M Bush, Matthew T Borzage, Anand A Joshi, William J Mack, Thomas D Coates, Richard M Leahy, John C Wood
Sickle cell disease (SCD) is a life-threatening genetic condition. Patients suffer from chronic systemic and cerebral vascular disease that leads to early and cumulative neurological damage. Few studies have quantified the effects of this disease on brain morphometry and even fewer efforts have been devoted to older patients despite the progressive nature of the disease. This study quantifies global and regional brain volumes in adolescent and young adult patients with SCD and racially matched controls with the aim of distinguishing between age related changes associated with normal brain maturation and damage from sickle cell disease...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28540120/remote-cerebellar-hemorrhage-report-of-two-different-cases
#20
Alireza Tabibkhooei, Morteza Taheri, Arash Fattahi, Feyzollah Ebrahimniya, Mohsen Benam
BACKGROUND: Remote cerebellar hemorrhage (RCH) is a rare complication after supratentorial craniotomies, which usually presents as linear hemorrhages on the surface of the cerebellum; the exact mechanism of it is not established yet. CASE DESCRIPTION: In case one, a 57-year-old patient demonstrated hemorrhage in the cerebellar sulci in favor of RCH 2 days after craniotomy for sphenoidal wing meningioma resection. He was asymptomatic and showed good prognosis after conservative treatment...
2017: Surgical Neurology International
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