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https://www.readbyqxmd.com/read/29471072/neuroreflex-control-of-cardiovascular-function-is-impaired-after-acute-poisoning-with-chlorpyrifos-an-organophosphorus-insecticide-possible-short-and-long-term-clinical-implications
#1
Alexandre F Cunha, Igor S A Felippe, Nilson C Ferreira-Junior, Leonardo B M Resstel, Daniela A M Guimarães, Vanessa Beijamini, Julian F R Paton, Karla N Sampaio
Although it is well-established that severe poisoning by organophosphorus (OP) compounds strongly affects the cardiorespiratory system, the effects of sub-lethal exposure to these compounds on the neural control of cardiovascular function are poorly explored. The aim of this study was to evaluate the effects of acute sub-lethal exposure to chlorpyrifos (CPF), a commonly used OP insecticide, on three basic reflex mechanisms involved in blood pressure regulation, the peripheral chemoreflex, the baroreflex and the Bezold-Jarisch reflex...
February 19, 2018: Toxicology
https://www.readbyqxmd.com/read/29470411/stroke-like-episodes-and-cerebellar-syndrome-in-phosphomannomutase-deficiency-pmm2-cdg-evidence-for-hypoglycosylation-driven-channelopathy
#2
Mercè Izquierdo-Serra, Antonio F Martínez-Monseny, Laura López, Julia Carrillo-García, Albert Edo, Juan Darío Ortigoza-Escobar, Óscar García, Ramón Cancho-Candela, M Llanos Carrasco-Marina, Luis G Gutiérrez-Solana, Daniel Cuadras, Jordi Muchart, Raquel Montero, Rafael Artuch, Celia Pérez-Cerdá, Belén Pérez, Belén Pérez-Dueñas, Alfons Macaya, José M Fernández-Fernández, Mercedes Serrano
Stroke-like episodes (SLE) occur in phosphomannomutase deficiency (PMM2-CDG), and may complicate the course of channelopathies related to Familial Hemiplegic Migraine (FHM) caused by mutations in CACNA1A (encoding CaV 2.1 channel). The underlying pathomechanisms are unknown. We analyze clinical variables to detect risk factors for SLE in a series of 43 PMM2-CDG patients. We explore the hypothesis of abnormal CaV 2.1 function due to aberrant N -glycosylation as a potential novel pathomechanism of SLE and ataxia in PMM2-CDG by using whole-cell patch-clamp, N -glycosylation blockade and mutagenesis...
February 22, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29468182/-gls-loss-of-function-causes-autosomal-recessive-spastic-ataxia-and-optic-atrophy
#3
David S Lynch, Viorica Chelban, Jana Vandrovcova, Alan Pittman, Nicholas W Wood, Henry Houlden
We describe a consanguineous family in which two brothers were affected by childhood onset spastic ataxia with optic atrophy and loss of motor and language skills. Through a combination of homozygosity mapping and whole-genome sequencing, we identified a homozygous copy number variant in GLS as the cause. The duplication leads to complete knockout of GLS expression. GLS encodes the brain- and kidney-specific enzyme glutaminase, which hydrolyzes glutamine for the production of glutamate, the most abundant central nervous system neurotransmitter...
February 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29468174/brain-atrophy-measures-in-preclinical-and-manifest-spinocerebellar-ataxia-type-2
#4
Kathrin Reetz, Roberto Rodríguez-Labrada, Imis Dogan, Shahram Mirzazade, Sandro Romanzetti, Jörg B Schulz, Edilia M Cruz-Rivas, Jose A Alvarez-Cuesta, Raul Aguilera Rodríguez, Yanetza Gonzalez Zaldivar, Georg Auburger, Luis Velázquez-Pérez
Objective: Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominantly inherited neurodegenerative disease mainly affecting the cerebellum and brainstem. In this Cuban-German research collaboration, we aimed to characterize atrophy patterns and associations with clinical measures in preclinical and manifest SCA2. Methods: In this study, 16 nonmanifest SCA2 mutation carriers, 26 manifest patients with SCA2, and 18 healthy control subjects underwent magnetic resonance imaging, as well as genetic and clinical characterization including assessment of ataxia (Scale for the Assessment and Rating of Ataxia) and saccade velocity in Cuba were enrolled...
February 2018: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29468166/suspicion-of-postanesthetic-femoral-paralysis-of-the-non-dependent-limb-in-a-horse
#5
Alessandro Mirra, Micaël David Klopfenstein Bregger, Olivier Louis Levionnois
A 15-year-old Selle Francais gelding was presented to the equine referral hospital for treatment of a left guttural pouch mycosis previously diagnosed. After induction, the horse was shortly hoisted by all four feet, moved on a padded surgical table, and positioned in right lateral recumbency. In order to reduce the risk of bleeding during surgical manipulation of the carotid and maxillary arteries, a mean arterial pressure between 60 and 70 mmHg was targeted. After surgery, the horse was moved in a padded recovery box keeping the same lateral recumbency...
2018: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/29468104/cerebellar-stroke-occupational-therapy-and-physical-therapy-management-from-intensive-care-unit-to-outpatient-a-case-report
#6
Christopher M Wilson, Christina L Mitchell, Katherine M Hebert
Cerebellar stroke increases the risk of extensive physical disability and long-term institutionalization. The purpose of this case report is to describe the 14-month longitudinal rehabilitation management and outcomes from the intensive care unit, inpatient rehabilitation unit and outpatient care of a patient after cerebellar stroke. A goal of this case report is to provide rehabilitation clinicians with a long-term perspective and understanding of the course of recovery for a patient after cerebellar cerebrovascular accident or related injury...
December 14, 2017: Curēus
https://www.readbyqxmd.com/read/29466804/phenotypic-variability-in-autosomal-dominant-familial-alzheimer-disease-due-to-the-s170f-mutation-of-presenilin-1
#7
Hannes O Tiedt, Beate Benjamin, Michael Niedeggen, Andreas Lueschow
BACKGROUND: In rare cases, patients with Alzheimer disease (AD) present at an early age and with a family history suggestive of an autosomal dominant mode of inheritance. Mutations of the presenilin-1 (PSEN1) gene are the most common causes of dementia in these patients. Early-onset and particularly familial AD patients frequently present with variable non-amnestic cognitive symptoms such as visual, language or behavioural changes as well as non-cognitive, e.g. motor, symptoms. OBJECTIVE: To investigate the phenotypic variability in carriers of the PSEN1 S170F mutation...
February 22, 2018: Neuro-degenerative Diseases
https://www.readbyqxmd.com/read/29466436/loss-of-hcn2-leads-to-delayed-gastrointestinal-motility-and-reduced-energy-intake-in-mice
#8
Daniel W Fisher, Phillip Luu, Neha Agarwal, Jonathan E Kurz, Dane M Chetkovich
Hyperpolarization-activated Cyclic Nucleotide-gated (HCN) channels are important regulators of excitability in neural, cardiac, and other pacemaking cells, which are often altered in disease. In mice, loss of HCN2 leads to cardiac dysrhythmias, persistent spike-wave discharges similar to those seen in absence epilepsy, ataxia, tremor, reduced neuropathic and inflammatory pain, antidepressant-like behavior, infertility, and severely restricted growth. While many of these phenotypes have tissue-specific mechanisms, the cause of restricted growth in HCN2 knockout animals remains unknown...
2018: PloS One
https://www.readbyqxmd.com/read/29464431/a-sepsecs-mutation-in-a-23-year-old-woman-with-microcephaly-and-progressive-cerebellar-ataxia
#9
Tessa van Dijk, Jan-Dirk Vermeij, Silvana van Koningsbruggen, Phillis Lakeman, Frank Baas, Bwee Tien Poll-The
Mutations in the SEPSECS gene are associated with pontocerebellar hypoplasia type 2D. Pontocerebellar hypoplasia (PCH) is a heterogeneous group of rare autosomal recessive neurodegenerative disorders, mainly affecting pons and cerebellum. Patients have severe motor and cognitive impairments and often die during infancy. Here, we report a 23-year-old woman with slowly progressive cerebellar ataxia and cognitive impairment, in whom a homozygous missense mutation in the SEPSECS gene (c.1321G>A; p.Gly441Arg) was identified with whole exome sequencing...
February 20, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29464058/type-iib-dna-topoisomerase-is-downregulated-by-trastuzumab-and-doxorubicin-to-synergize-cardiotoxicity
#10
Jiangsong Jiang, Nishant Mohan, Yukinori Endo, Yi Shen, Wen Jin Wu
Despite heightened risk of cardiotoxicity associated with combination therapy of anthracyclines and trastuzumab in HER2-positive breast cancer patients, little research effort has been invested in exploring the molecular mechanisms of cardiotoxicity induced by this combination therapy. In this study, we demonstrate that trastuzumab downregulates both gene and protein expressions of type IIB DNA topoisomerase/DNA topoisomerase IIB (TOP2B), a major intracellular target mediating doxorubicin-induced cardiotoxicity, in human primary cardiomyocytes...
January 19, 2018: Oncotarget
https://www.readbyqxmd.com/read/29463856/impact-of-reduced-cerebellar-eaat-expression-on-purkinje-cell-firing-pattern-of-npc1-deficient-mice
#11
Michael Rabenstein, Franziska Peter, Arndt Rolfs, Moritz J Frech
Niemann-Pick disease Type C1 (NPC1) is a rare hereditary neurodegenerative disease. NPC1-patients suffer, amongst others, from ataxia, based on a loss of cerebellar Purkinje cells (PCs). Impaired expression/function of excitatory amino acid transporters (EAATs) are suspected of contributing to PC-degeneration in hereditary spinocerebellar ataxias (SCAs). Thus, we studied EAAT-expression and its impact to PC-activity in NPC1-/- mice. Western blot revealed reduced EAAT1, EAAT2, EAAT4, and βIII-spectrin levels in NPC1-/- mice...
February 20, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29463243/anacardic-acid-inhibits-pancreatic-cancer-cell-growth-and-potentiates-chemotherapeutic-effect-by-chmp1a-atm-p53-signaling-pathway
#12
Maiyon Park, Danielle Upton, Melodie Blackmon, Valerie Dixon, Scott Craver, Dawn Neal, Derek Perkins
BACKGROUND: Pancreatic cancer is one of the leading causes of cancer related death and its incidence has risen steadily. Although anticancer drugs have been developed based on the new molecular findings, the drugs have produced unsatisfactory results due to toxicity and resistance. Thus, a complementary therapeutic intervention is urgently needed for pancreatic cancer patients. METHODS: The aim of this study was to assess the potential therapeutic effect of Anacardic acid on pancreatic cancer in vitro and elucidate its underlying mechanisms...
February 20, 2018: BMC Complementary and Alternative Medicine
https://www.readbyqxmd.com/read/29462666/sca-tethering-pcr-a-rapid-genetic-test-for-the-diagnosis-of-sca1-3-6-and-7-by-pcr-and-capillary-electrophoresis
#13
Claudia Cagnoli, Alessandro Brussino, Cecilia Mancini, Marina Ferrone, Laura Orsi, Paola Salmin, Patrizia Pappi, Elisa Giorgio, Elisa Pozzi, Simona Cavalieri, Eleonora Di Gregorio, Marta Ferrero, Alessandro Filla, Giuseppe De Michele, Cinzia Gellera, Caterina Mariotti, Suran Nethisinghe, Paola Giunti, Giovanni Stevanin, Alfredo Brusco
Spinocerebellar ataxias (SCA) type 1, 2, 3, 6, and 7, associated with a (CAG)n repeat expansion in coding sequences, are the most prevalent autosomal dominant ataxias worldwide (approximately 60% of the cases). In addition, the phenotype of SCA2 expansions has been now extended to Parkinson's disease and amyotrophic lateral sclerosis. Their diagnosis is presently based on a PCR to identify small expanded alleles, followed by a second-level test whenever the suspect of false normal homozygous, or a CAT interruption in SCA1 needs to be verified...
February 17, 2018: Journal of Molecular Diagnostics: JMD
https://www.readbyqxmd.com/read/29462597/validity-and-reliability-of-outcome-measures-assessing-dexterity-coordination-and-upper-limb-strength-in-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#14
Cynthia Gagnon, Isabelle Lessard, Bernard Brais, Isabelle Côté, Caroline Lavoie, Matthis Synofzik, Jean Mathieu
OBJECTIVE: To document in adults affected by Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS) the intra- and interrater reliability, standard error of measurement, agreement, minimal detectable change and construct validity of the Nine-Hole Peg Test (NHPT), Standardized Finger-to-Nose Test (SFNT), and grip strength. DESIGN: Metrological study. SETTING: Neuromuscular rehabilitation clinic. PARTICIPANTS: Genetically confirmed adult patients with ARSACS (n = 42, 21 females, mean age = 38...
February 17, 2018: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/29460203/time-is-cerebellum
#15
EDITORIAL
Hiroshi Mitoma, Mario Manto, Christiane S Hampe
The cerebellum characteristically has the capacity to compensate for and restore lost functions. These compensatory/restorative properties are explained by an abundant synaptic plasticity and the convergence of multimodal central and peripheral signals. In addition, extra-cerebellar structures contribute also to the recovery after a cerebellar injury. Clinically, some patients show remarkable improvement of severe ataxic symptoms associated with trauma, stroke, metabolism, or immune-mediated cerebellar ataxia (IMCA, e...
February 19, 2018: Cerebellum
https://www.readbyqxmd.com/read/29459060/bickerstaff-s-brainstem-encephalitis-with-overlapping-guillain-barre-syndrome-usefulness-of-sequential-nerve-conduction-studies
#16
Choong Yi Fong, Hnin Wint Wint Aung, Arie Khairani, Chin Seng Gan, Nortina Shahrizaila, Khean Jin Goh
Bickerstaff's brainstem encephalitis (BBE) is a rare immune-mediated disorder characterized by ophthalmoplegia, ataxia and disturbance of consciousness, which may overlap with Guillain-Barré syndrome (GBS) if there is additional limb weakness. We report a 7-month-old boy presented with ophthalmoplegia followed by a rapidly ascending paralysis of all four limbs and disturbance of consciousness. The initial impression was BBE with overlapping GBS. This was supported by sequential nerve conduction study (NCS) findings compatible with an acute inflammatory demyelinating polyneuropathy (AIDP)...
February 16, 2018: Brain & Development
https://www.readbyqxmd.com/read/29458753/challenges-in-sleep-stage-r-scoring-in-patients-with-autosomal-dominant-spinocerebellar-ataxias-sca1-sca2-and-sca3-and-oculomotor-abnormalities-a-whole-night-polysomnographic-evaluation
#17
Doniparthi Venkata Seshagiri, Arun Sasidharan, Gulshan Kumar, Pramod Kumar Pal, Sanjeev Jain, Bindu M Kutty, Ravi Yadav
OBJECTIVES: Spinocerebellar ataxias are progressive neurodegenerative disorders characterized by progressive cerebellar features with additional neuro-axis involvement. Oculomotor abnormality is one of the most frequent manifestations. This study was done to assess the polysomnographic abnormalities in patients with Spinocerebellar ataxia (SCA1, SCA2 and SCA3) and also to evaluate whether oculomotor abnormalities interfere with sleep stage R scoring. METHODS: The study was carried out using 36 genetically positive SCA patients...
February 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29458334/identification-of-novel-l2hgdh-mutation-in-a-large-consanguineous-pakistani-family-a-case-report
#18
Muhammad Ikram Ullah, Abdul Nasir, Arsalan Ahmad, Gaurav Vijay Harlalka, Wasim Ahmad, Muhammad Jawad Hassan, Emma L Baple, Andrew H Crosby, Barry A Chioza
BACKGROUND: L-2-hydroxyglutaric aciduria (L2HGA) is a progressive neurometabolic disease of brain caused by mutations of in L-2-hydroxyglutarate dehydrogenase (L2HGDH) gene. Cardinal clinical features include cerebellar ataxia, epilepsy, neurodevelopmental delay, intellectual disability, and other clinical neurological deficits. CASE PRESENTATION: We describe an index case of the family presented with generalised tonic-clonic seizure, developmental delay, intellectual disability, and ataxia...
February 20, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29458134/antiviral-activity-of-pyrrole-imidazole-polyamides-against-sv40-and-bk-polyomaviruses
#19
Terri G Edwards, Chris Fisher
The ability of antiviral polyamides (AVP) to act upon polyomaviruses (PyV) was evaluated. Initial studies found that a single treatment of AVP protected SV40-infected BSC-1 cells from cytopathic effect (CPE) for as long as 11 days p.i.. AVP substantially suppressed SV40 genome copy numbers over the duration of the experiment. Immunofluorescence analysis of ataxia-telangiectasia mutated (ATM) activation and large T antigen (LTag) expression clearly demonstrated that AVP treatment at day 1 p.i. delayed the onset of productive SV40 replication by approximately 3 days, and substantially limited the infection relative to vehicle-treated controls...
February 16, 2018: Antiviral Research
https://www.readbyqxmd.com/read/29454585/the-hot-cross-bun-sign-in-a-patient-with-encephalitis
#20
Yingyan Gan, Huici Liang, Xiaojing Li, Yiru Zeng, Wenlin Wu, Jing Han, Jianning Mai
The 'hot cross' bun (HCB) sign refers to pontine cruciform hyperintensity on T2 weighted magnetic resonance image (MRI) which is frequently seen in multiple system atrophy and spinocerebellar ataxia types 2 and 3. We describe a 3 years old boy of encephalitis and his MRI image showed HCB sign in the pontine. After immunosuppressive treatment and followed up 14 months, he got a good outcome and the HCB sign narrowed nearly disappeared.
February 14, 2018: Brain & Development
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