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https://www.readbyqxmd.com/read/28231312/analysis-of-the-t-cell-response-to-zika-virus-and-identification-of-a-novel-cd8-t-cell-epitope-in-immunocompetent-mice
#1
Ryan D Pardy, Maaran M Rajah, Stephanie A Condotta, Nathan G Taylor, Selena M Sagan, Martin J Richer
Zika virus (ZIKV) is an emerging arbovirus of the Flaviviridae family. Although ZIKV infection is typically mild and self-limiting in healthy adults, infection has been associated with neurological symptoms such as Guillain-Barré syndrome, and a causal link has been established between fetal microcephaly and ZIKV infection during pregnancy. These risks, and the magnitude of the ongoing ZIKV pandemic, have created an urgent need for the development of animal models to study the immune response to ZIKV infection...
February 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28229379/a-novel-frameshift-mutation-in-the-sterol-27-hydroxylase-gene-in-an-egyptian-family-with-cerebrotendinous-xanthomatosis-without-cataract
#2
Mohamed S Abdel-Hamid, Mahmoud Y Issa, Ghada A Otaify, Maha S Zaki
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive lipid storage disorder caused by deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1 gene. CTX is characterized by tendon xanthomas, juvenile cataracts and multiple progressive neurological symptoms. Here we report on the clinical and molecular findings of a 35-years old Egyptian patient with CTX without cataract. Parents were first cousins with family history of two deceased sibs with mild impaired cognitive functions and epilepsy without appearance of tendon xanthomas...
February 22, 2017: Metabolic Brain Disease
https://www.readbyqxmd.com/read/28228636/progressive-ischemic-stroke-due-to-thyroid-storm-associated-cerebral-venous-thrombosis
#3
Natsumi Tanabe, Eiji Hiraoka, Masataka Hoshino, Gautam A Deshpande, Kana Sawada, Yasuhiro Norisue, Jumpei Tsukuda, Toshihiko Suzuki
BACKGROUND Cerebral venous thrombosis (CVT) is a rare but fatal complication of hyperthyroidism that is induced by the hypercoagulable state of thyrotoxicosis. Although it is frequently difficult to diagnose CVT promptly, it is important to consider it in the differential diagnosis when a hyperthyroid patient presents with atypical neurologic symptoms. CASE REPORT A 49-year-old Japanese female with unremarkable medical history came in with thyroid storm and multiple progressive ischemic stroke identified at another hospital...
February 23, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28228103/disease-manifestations-and-burden-of-illness-in-patients-with-acid-sphingomyelinase-deficiency-asmd
#4
REVIEW
Margaret M McGovern, Ruzan Avetisyan, Bernd-Jan Sanson, Olivier Lidove
Acid sphingomyelinase deficiency (ASMD), a rare lysosomal storage disease, is an autosomal recessive genetic disorder caused by different SMPD1 mutations. Historically, ASMD has been classified as Niemann-Pick disease (NPD) types A (NPD A) and B (NPD B). NPD A is associated with a uniformly devastating disease course, with rapidly progressing psychomotor degeneration, leading to death typically by the age of 3 years, most often from respiratory failure. In contrast, the clinical phenotype and life expectancy of patients with NPD B may vary widely...
February 23, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28226476/ultrasound-characterization-of-interface-oscillation-as-a-proxy-for-ventriculoperitoneal-shunt-function
#5
April Joy C Aralar, Matthew D Bird, Robert D Graham, Beomseo Koo, Mahesh B Shenai, Parag V Chitnis, Siddhartha Sikdar, April Joy C Aralar, Matthew D Bird, Robert D Graham, Beomseo Koo, Mahesh B Shenai, Parag V Chitnis, Siddhartha Sikdar, Mahesh B Shenai, Beomseo Koo, Robert D Graham, Matthew D Bird, Siddhartha Sikdar, Parag V Chitnis, April Joy C Aralar
Hydrocephalus, where cerebrospinal fluid (CSF) production rate is greater than reabsorption rate, leads to impaired neurological function if left untreated. Ventriculoperitoneal shunts (VPS) are implanted in the brain ventricles to route CSF. VPS systems have a high failure rate, and failure symptoms resemble symptoms of common maladies. The current gold standard for shunt diagnosis, surgical intervention, poses high risk and requires an expensive procedure for patients. Current non-invasive methods lack proper insight to assist physicians...
August 2016: Conference Proceedings: Annual International Conference of the IEEE Engineering in Medicine and Biology Society
https://www.readbyqxmd.com/read/28223250/dorsal-cervical-spinal-cord-herniation-precipitated-by-kyphosis-deformity-correction-for-spinal-cord-tethering
#6
Robert S Heller, Steven W Hwang, Ron I Riesenburger
INTRODUCTION: Cervical spinal cord herniation (SCH) is a rare clinical entity. Reported following prior intradural surgery or surgery complicated by durotomy, patients return several months to years later with symptoms of worsening myelopathy. Herein is presented a case of a 51-year old female with SCH in the cervical spine following kyphosis deformity correction CASE DESCRIPTION: A 51-year old female presented to the Neurosurgery clinic with worsening cervical myelopathy due to cervical spinal cord tethering and adhesions from prior intradural surgery for Chiari malformation...
February 18, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28222564/neurological-and-functional-recovery-in%C3%A2-tuberculosis-patients-with-spinal-cord%C3%A2-injury-in-the-netherlands
#7
Eva M N Wouda, Ymkje Stienstra, Tjip S van der Werf, Huib Kerstjens, Wiel C M de Lange, Maarten Coppes, Jos Kuijlen, Marga Tepper, Onno W Akkerman
BACKGROUND: Spinal tuberculosis (TB) accounts for approximately 1% to 3% of all TB cases and it can cause a wide range of neurological symptoms, from none to a complete spinal cord injury (SCI), resulting in complete paraplegia or tetraplegia. OBJECTIVES: To describe the functional and neurological outcome of SCI caused by TB. METHODS: Retrospective data on the admission period was combined with prospectively collected data on long-term follow-up...
February 10, 2017: NeuroRehabilitation
https://www.readbyqxmd.com/read/28221304/outcome-measures-in-myasthenia-gravis-incorporation-into-clinical-practice
#8
Srikanth Muppidi
The development of validated assessment tools for evaluating disease status and response to interventions in patients with myasthenia gravis (MG) has been driven by clinical studies of emerging MG therapies. However, only a small proportion of MG-focused neurology practices have adopted these assessment tools for routine clinical use. This article reviews the suitability of 5 assessment instruments for incorporation into clinical practice, which should be driven by their ability to contribute to improved patient outcomes, and to be implemented within practice personnel and resource constraints...
March 2017: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/28217021/central-pontine-myelinolysis-and-localized-fluorodeoxyglucose-uptake-seen-on-18-f-fdg-pet-ct
#9
Frederik Rønne, Peer Carsten Tfelt-Hansen, Lene Rørdam
Case report describing the finding of central pontine myelinolysis (CPM) using combined fluorine-18 ( (18)F)-fluorodeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT). The patient was a known alcoholic who, during admission was under treatment for hyponatremia, showed a significant decline in both motor and cognitive function. Combined (18)F-FDG PET/CT showed localized FDG uptake in the pons, consistent with the finding of CPM observed on magnetic resonance imaging (MRI). CPM is a demyelinating lesion of the pons, resulting in several neurological symptoms...
January 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/28212618/clinical-features-and-outcome-in-patients-with-osseomuscular-type-of-wilson-s-disease
#10
Hao Yu, Juan-Juan Xie, Yu-Chao Chen, Qin-Yun Dong, Yi Dong, Wang Ni, Zhi-Ying Wu
BACKGROUND: Wilson's disease with osseomuscular type is a rare condition, which often lacks typical hepatic and neurological symptoms and causes misdiagnoses easily. During the past 10 years, eight Chinese patients of osseomuscular type of Wilson's disease were identified in our clinic. METHODS: Clinical information was gathered from medical records and follow-ups. The genetic testing was performed in each patient. Serum ceruloplasmin, Kayser-Fleischer rings, liver function, brain magnetic resonance imaging and abdominal ultrasonography were also evaluated...
February 17, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28212563/progression-of-motor-deficits-in-glioma-bearing-mice-impact-of-cnf1-therapy-at-symptomatic-stages
#11
Eleonora Vannini, Federica Maltese, Francesco Olimpico, Alessia Fabbri, Mario Costa, Matteo Caleo, Laura Baroncelli
Glioblastoma (GBM) is the most aggressive type of brain tumor. In this context, animal models represent excellent tools for the early detection and longitudinal mapping of neuronal dysfunction, that are critical in the preclinical validation of new therapeutic strategies. In a mouse glioma model, we developed sensitive behavioral readouts that allow early recognizing and following neurological symptoms. We injected GL261 cells into the primary motor cortex of syngenic mice and we used a battery of behavioral tests to longitudinally monitor the dysfunction induced by tumor growth...
February 15, 2017: Oncotarget
https://www.readbyqxmd.com/read/28212190/endothelial-cell-disease-emerging-knowledge-from-cerebral-cavernous-malformations
#12
Maria Grazia Lampugnani, Matteo Malinverno, Elisabetta Dejana
PURPOSE OF REVIEW: Endothelial cells dysfunctions are crucial determinants of several human diseases. We review here the most recent reports on endothelial cell defects in cerebral cavernous malformations (CCMs), particularly focusing on adherens junctions. CCM is a vascular disease that affects specifically the venous microvessels of the central nervous system and which is caused by loss-of-function mutation in any one of the three CCM genes (CCM1, 2 or 3) in endothelial cells. The phenotypic result of these mutations are focal vascular malformations that are permeable and fragile causing neurological symptoms and occasionally haemorrhagic stroke...
February 16, 2017: Current Opinion in Hematology
https://www.readbyqxmd.com/read/28211988/intrathecal-enzyme-replacement-therapy-reverses-cognitive-decline-in-mucopolysaccharidosis-type-i
#13
Igor Nestrasil, Elsa Shapiro, Alena Svatkova, Patricia Dickson, Agnes Chen, Amy Wakumoto, Alia Ahmed, Edward Stehel, Sarah McNeil, Curtis Gravance, Elizabeth Maher
Mucopolysaccharidosis type I (MPS I) is an inherited lysosomal storage disease that seriously affects the brain. Severity of neurocognitive symptoms in attenuated MPS subtype (MPS IA) broadly varies partially, due to restricted permeability of blood-brain barrier (BBB) which limits treatment effects of intravenously applied α-L-iduronidase (rhIDU) enzyme. Intrathecal (IT) rhIDU application as a possible solution to circumvent BBB improved brain outcomes in canine models; therefore, our study quantifies effects of IT rhIDU on brain structure and function in an MPS IA patient with previous progressive cognitive decline...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211814/are-major-dementias-triggered-by-poor-blood-flow-to-the-brain-theoretical-considerations
#14
Jack C de la Torre
There is growing evidence that chronic brain hypoperfusion plays a central role in the development of Alzheimer's disease (AD) long before dyscognitive symptoms or amyloid-β accumulation in the brain appear. This commentary proposes that dementia with Lewy bodies (DLB), frontotemporal dementia (FTD), and Creutzfeldt-Jakob disease (CJD) may also develop from chronic brain hypoperfusion following a similar but not identical neurometabolic breakdown as AD. The argument to support this conclusion is that chronic brain hypoperfusion, which is found at the early stages of the three dementias reviewed here, will reduce oxygen delivery and lower oxidative phosphorylation promoting a steady decline in the synthesis of the cell energy fuel adenosine triphosphate (ATP)...
February 15, 2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28203083/sexual-dimorphism-in-parkinson-s-disease-differences-in-clinical-manifestations-quality-of-life-and-psychosocial-functioning-between-males-and-females
#15
Farzaneh Farhadi, Kia Vosoughi, Gholam Ali Shahidi, Ahmad Delbari, Johan Lökk, Seyed-Mohammad Fereshtehnejad
INTRODUCTION: Sex-related differences in clinical manifestations and consequences of Parkinson's disease (PD) have been poorly explored. Better understanding of sexual dimorphism in neurologic diseases such as PD has been announced as a research priority. The aim of our study was to determine independent sex differences in clinical manifestations and subtypes, psychosocial functioning, quality of life (QoL) and its domains between male and female individuals with PD. PATIENTS AND METHODS: A comprehensive list of demographics, motor symptoms and subtypes, nonmotor features, health-related quality of life (HRQoL), psychosocial functioning and general aspects of daily life was assessed in 157 individuals (108 males and 49 females) with idiopathic PD...
2017: Neuropsychiatric Disease and Treatment
https://www.readbyqxmd.com/read/28202457/gain-of-function-samd9l-mutations-cause-a-syndrome-of-cytopenia-immunodeficiency-mds-and-neurological-symptoms
#16
Bianca Tesi, Josef Davidsson, Matthias Voss, Elisa Rahikkala, Tim D Holmes, Samuel C C Chiang, Jonna Komulainen-Ebrahim, Sorina Gorcenco, Alexandra Rundberg Nilsson, Tim Ripperger, Hannaleena Kokkonen, David Bryder, Thoas Fioretos, Jan-Inge Henter, Merja Möttönen, Riitta Niinimäki, Lars Nilsson, Cornelis Jan Pronk, Andreas Puschmann, Hong Qian, Johanna Uusimaa, Jukka Moilanen, Ulf Tedgård, Jörg Cammenga, Yenan T Bryceson
Several monogenic causes of familial myelodysplastic syndrome (MDS) have recently been identified. We studied two families with cytopenia, predisposition to MDS with chromosome 7 aberrations, immunodeficiency, and progressive cerebellar dysfunction. Genetic studies uncovered heterozygous missense mutations in SAMD9L, a tumor suppressor gene located on chromosome arm 7q. Consistent with a gain-of-function effect, ectopic expression of the two identified SAMD9L mutants decreased cell proliferation relative to wild-type protein...
February 15, 2017: Blood
https://www.readbyqxmd.com/read/28202311/anesthetic-considerations-for-labor-and-delivery-in-women-with-cerebrospinal-fluid-shunts
#17
S Rajagopalan, S Gopinath, V T Trinh, S Chandrasekhar
BACKGROUND: The anesthetic management of labor and delivery in pregnant women with cerebrospinal fluid shunts can be challenging. We conducted a literature review to understand the anesthetic implications in pregnant women with cerebrospinal fluid shunts. METHODS: We searched PubMed, EMBASE, and Medline databases to identify reports of pregnant women with cerebrospinal fluid shunts during the 30-year period from 1985 to 2015. Twenty-four studies reporting anesthetic techniques for labor and delivery were included in the analyses...
January 16, 2017: International Journal of Obstetric Anesthesia
https://www.readbyqxmd.com/read/28197100/rho-kinase-inhibition-with-fasudil-in-the-sod1-g93a-mouse-model-of-amyotrophic-lateral-sclerosis-symptomatic-treatment-potential-after-disease-onset
#18
René Günther, Alexander Balck, Jan C Koch, Tobias Nientiedt, Michael Sereda, Mathias Bähr, Paul Lingor, Lars Tönges
Despite an improved understanding of the genetic background and the pathomechanisms of amyotrophic lateral sclerosis (ALS) no novel disease-modifying therapies have been successfully implemented in clinical routine. Riluzole still remains the only clinically approved substance in human ALS treatment with limited efficacy. We have previously identified pharmacological rho kinase (ROCK) inhibitors as orally applicable substances in SOD1.G93A transgenic ALS mice (SOD1(G93A)), which are able to extend survival time and improve motor function after presymptomatic treatment...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28194640/life-beyond-a-diagnosis-of-glioblastoma-a-systematic-review-of-the-literature
#19
REVIEW
L Gately, S A McLachlan, A Dowling, J Philip
BACKGROUND: The median survival of glioblastoma is 12-14 months with less than 10% of patients surviving at least 2 years from diagnosis. Patients diagnosed with glioblastoma face poor prognosis, significant symptom burden, and high care needs. The aim of this study is to undertake a literature review to document the issues encountered by long-term survivors of glioblastoma, a small but important subset of patients. METHODS: MEDLINE, PsychInfo, and EMBASE were searched with core concepts: (1) glioblastoma, (2) survivor, and (3) terms pertaining to survivorship issues...
February 13, 2017: Journal of Cancer Survivorship: Research and Practice
https://www.readbyqxmd.com/read/28186472/clinical-presentation-and-treatment-outcomes-of-spinal-epidural-arteriovenous-fistulas
#20
Deena M Nasr, Waleed Brinjikji, Michelle J Clarke, Giuseppe Lanzino
OBJECTIVE Spinal epidural arteriovenous fistulas (SEDAVFs) constitute a rare but treatable cause of vascular myelopathy and are a different subtype from the more common Type I spinal dural AVFs. The purpose of this study was to review a consecutive series of SEDAVFs from a single institution and report on the clinical presentations, functional status, and treatment outcomes. METHODS The authors identified all SEDAVFs treated at their institution from 2005 to 2015. SEDAVFs were defined as spinal AVFs in which the fistulous connection occurred in the epidural venous plexus...
February 10, 2017: Journal of Neurosurgery. Spine
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