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https://www.readbyqxmd.com/read/28102628/transient-symptomatic-worsening-by-atropine-in-opsoclonus-myoclonus-syndrome
#1
Hirotsugu Miyoshi, Ryuji Nakamura, Ayano Yamaga, Toshiaki Haraki, Toshimichi Yasuda, Hiroshi Hamada, Masashi Kawamoto
Opsoclonus-myoclonus syndrome (OMS) is characterized by abnormal eye and systemic involuntary movements, as well as cerebellar ataxia. Some sedatives and anesthetics worsen movements associated with OMS, while there is no known report of a negative effect of atropine. We report on sedation in two patients with OMS. Involuntary movements were transiently worsened after using atropine with midazolam or thiamylal in both, but were not seen when atropine was not used. We speculated that atropine has the potential to exacerbate involuntary movements in OMS due to vulnerability to this agent via unknown mechanisms...
January 2017: Pediatrics International: Official Journal of the Japan Pediatric Society
https://www.readbyqxmd.com/read/28101805/ketogenic-diet-in-pyruvate-dehydrogenase-complex-deficiency-short-and-long-term-outcomes
#2
Kalliopi Sofou, Maria Dahlin, Tove Hallböök, Marie Lindefeldt, Gerd Viggedal, Niklas Darin
OBJECTIVES: Our aime was to study the short- and long-term effects of ketogenic diet on the disease course and disease-related outcomes in patients with pyruvate dehydrogenase complex deficiency, the metabolic factors implicated in treatment outcomes, and potential safety and compliance issues. METHODS: Pediatric patients diagnosed with pyruvate dehydrogenase complex deficiency in Sweden and treated with ketogenic diet were evaluated. Study assessments at specific time points included developmental and neurocognitive testing, patient log books, and investigator and parental questionnaires...
January 18, 2017: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/28099568/progressive-hearing-loss-and-cerebellar-ataxia-in-anti-ma2-associated-autoimmune-encephalitis
#3
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Wladimir Bocca Vieira de Rezende Pinto, Adrialdo José Santos
No abstract text is available yet for this article.
January 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28099512/age-dependent-oxidative-dna-damage-does-not-correlate-with-reduced-proliferation-of-cardiomyocytes-in-humans
#4
Yanhui Huang, Haifa Hong, Minghui Li, Jinfen Liu, Chuan Jiang, Haibo Zhang, Lincai Ye, Jinghao Zheng
BACKGROUND: Postnatal human cardiomyocyte proliferation declines rapidly with age, which has been suggested to be correlated with increases in oxidative DNA damage in mice and plays an important role in regulating cardiomyocyte proliferation. However, the relationship between oxidative DNA damage and age in humans is unclear. METHODS: Sixty right ventricular outflow myocardial tissue specimens were obtained from ventricular septal defect infant patients during routine congenital cardiac surgery...
2017: PloS One
https://www.readbyqxmd.com/read/28098348/impact-of-lysosomal-storage-disorders-on-biology-of-mesenchymal-stem-cells-evidences-from-in-vitro-silencing-of-glucocerebrosidase-gba-and-alpha-galactosidase-a-gla-enzymes
#5
T Squillaro, I Antonucci, N Alessio, A Esposito, M Cipollaro, Mab Melone, G Peluso, L Stuppia, U Galderisi
Lysosomal storage disorders (LDS) comprise a group of rare multisystemic diseases resulting from inherited gene mutations that impair lysosomal homeostasis. The most common LSDs, Gaucher disease (GD) and Fabry disease (FD) are caused by deficiencies in the lysosomal glucocerebrosidase (GBA) and alpha-galactosidase A (GLA) enzymes, respectively. Given the systemic nature of enzyme deficiency, we hypothesized that the stem cell compartment of GD and FD patients might be also affected. Among stem cells, mesenchymal stem cells (MSCs) are a commonly investigated population given their role in hematopoiesis and the homeostatic maintenance of many organs and tissues...
January 18, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28097511/brain-calcification-and-movement-disorders
#6
REVIEW
Vladimir S Kostić, Igor N Petrović
Brain calcifications may be an incidental finding on neuroimaging in normal, particularly older individuals, but can also indicate numerous hereditary and nonhereditary syndromes, and metabolic, environmental, infectious, autoimmune, mitochondrial, traumatic, or toxic disorders. Bilateral calcifications most commonly affecting the basal ganglia may often be found in idiopathic cases, and a new term, primary familial brain calcification (PFBC), has been proposed that recognizes the genetic causes of the disorder and that calcifications occurred well beyond the basal ganglia...
January 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28096552/novel-missense-variant-of-cacna1a-gene-in-a-slovak-family-with-episodic-ataxia-type-2
#7
Andrea Petrovicova, Miroslav Brozman, Egon Kurca, Tibor Gobo, Jana Dluha, Klaudia Kalmarova, Vladimir Nosal, Martina Hikkelova, Adriana Krajciova, Tatiana Burjanivova, Stefan Sivak
INTRODUCTION: Episodic ataxias (EAs) are rare dominantly inherited neurological disorders characterized by recurrent episodes of ataxia lasting minutes to hours. The most common subtype is EA type 2 (EA2) caused by pathogenic variants of calcium voltage-gated channel subunit alpha1 A gene (CACNA1A) on chromosome 19p13. SUBJECTS AND METHODS: We examined a Slovak three-generation family. Genomic DNA of the family members was extracted from peripheral blood and amplified by polymerase chain reaction...
January 13, 2017: Biomedical Papers of the Medical Faculty of the University Palacký, Olomouc, Czechoslovakia
https://www.readbyqxmd.com/read/28095071/mevalonate-kinase-deficiency-associated-with-ataxia-and-retinitis-pigmentosa-in-two-brothers-with-mvk-gene-mutations
#8
Ulrich Kellner, Heidi Stöhr, Silke Weinitz, Ghazaleh Farmand, Bernhard H F Weber
PURPOSE: To report the clinical and molecular genetic findings in two brothers with retinitis pigmentosa (RP) and mevalonate kinase deficiency (MKD). METHODS: The brothers were examined clinically and with fundus autofluorescence, near-infrared autofluorescence, and spectral domain optical coherence tomography. Targeted resequencing was done with a custom designed gene panel containing 78 genes associated with RP. Mutations were confirmed by direct Sanger sequencing...
January 17, 2017: Ophthalmic Genetics
https://www.readbyqxmd.com/read/28094871/divergence-of-camp-signaling-pathways-mediating-augmented-nucleotide-excision-repair-and-pigment-induction-in-melanocytes
#9
Erin M Wolf Horrell, Stuart G Jarrett, Katharine M Carter, John A D'Orazio
Loss-of-function melanocortin 1 receptor (MC1R) polymorphisms are common in UV-sensitive fair-skinned individuals and are associated with blunted cAMP second messenger signaling and higher lifetime risk of melanoma because of diminished ability of melanocytes to cope with UV damage. cAMP signaling positions melanocytes to resist UV injury by up-regulating synthesis of UV-blocking eumelanin pigment and by enhancing the repair of UV-induced DNA damage. cAMP enhances melanocyte nucleotide excision repair (NER), the genome maintenance pathway responsible for the removal of mutagenic UV photolesions, through cAMP-activated protein kinase (protein kinase A)-mediated phosphorylation of the ataxia telangiectasia mutated and Rad3 related (ATR) protein on the S435 residue...
January 17, 2017: Experimental Dermatology
https://www.readbyqxmd.com/read/28094059/alteration-of-methylation-status-in-the-atxn3-gene-promoter-region-is-linked-to-the-sca3-mjd
#10
Chunrong Wang, Huirong Peng, Jiada Li, Dongxue Ding, Zhao Chen, Zhe Long, Yun Peng, Xin Zhou, Wei Ye, Kai Li, Qian Xu, Sanxi Ai, Chengyuan Song, Ling Weng, Rong Qiu, Kun Xia, Beisha Tang, Hong Jiang
DNA methylation has been acknowledged as one of the key epigenetic mechanisms involved in the regulation of gene expression and genomic functions. Alteration of the DNA methylation level has been linked to modification of the disease progression and instability regulation of certain disease-causing repeats in neurodegenerative diseases. In this study, blood samples collected from spinocerebellar ataxia type 3/Machado-Joseph disease (SCA3/MJD) patients versus control were used to explore the potential link of DNA methylation levels at ATXN3 gene promoter to the pathogenesis of SCA3/MJD...
December 24, 2016: Neurobiology of Aging
https://www.readbyqxmd.com/read/28093369/rehabilitation-of-the-pontine-ataxia-dysmetria-syndrome-a-case-presentation
#11
Stephanie Li, Kasondra Hartman, Krishna Surapaneni, Eric L Altschuler
We present a case of a patient with significant ataxia and dysmetria following a lacunar pontine infarction and review the literature on this uncommon syndrome. The patient had an excellent clinical course with near resolution of symptoms and signs in less than three weeks. We characterize and illustrate with videos of the ataxia and dysmetria. Interestingly, the characteristics of the dysmetria appear to be different than that seen in patients with dysmetria arising from a cerebellar or thalamic lesion. We discuss the likely neurophysiologic mechanisms responsible for the condition and recovery...
January 13, 2017: PM & R: the Journal of Injury, Function, and Rehabilitation
https://www.readbyqxmd.com/read/28093285/the-depletion-of-atm-inhibits-colon-cancer-proliferation-and-migration-via-b56%C3%AE-2-mediated-chk1-p53-cd44-cascades
#12
Rui Liu, Jiajia Tang, Chaodong Ding, Weicheng Liang, Li Zhang, Tianke Chen, Yan Xiong, Xiaowei Dai, Wenfeng Li, Yunsheng Xu, Jin Hu, Liting Lu, Wanqin Liao, Xincheng Lu
Ataxia-telangiectasia mutated (ATM) protein kinase is a major guardian of genomic stability, and its well-established function in cancer is tumor suppression. Here, we report an oncogenic role of ATM. Using two isogenic sets of human colon cancer cell lines that differed only in their ATM status, we demonstrated that ATM deficiency significantly inhibits cancer cell proliferation, migration, and invasion. The tumor-suppressive function of ATM depletion is not modulated by the compensatory activation of ATR, but it is associated with B56γ2-mediated Chk1/p53/CD44 signaling pathways...
January 13, 2017: Cancer Letters
https://www.readbyqxmd.com/read/28093222/swainsonine-induced-lysosomal-storage-disease-in-goats-caused-by-the-ingestion-of-sida-rodrigoi-monteiro-in-north-western-argentina
#13
Juan Francisco Micheloud, Raúl Marin, Luis Adrian Colque-Caro, Olga Gladys Martínez, Dale Gardner, Eduardo Juan Gimeno
There are numerous poisonous plants that can induce intralysosomal accumulation of glycoproteins and neurologic syndromes. Here we describe for the first time, a disease caused by ingesting Sida rodrigoi Monteiro in goats in North-western Argentina. The animals showed weight loss, indifference to the environment, unsteady gait and ataxia. Histopathologic studies showed vacuolization in cells of various organs, mainly in the CNS. The material deposited in the cells was positive for LCA (Lens culinaris agglutinin), WGA (Triticum vulgaris agglutinin), sWGA (succinyl-Triticum vulgaris agglutinin) and Con-A (Concanavalia ensiformis agglutinin) lectins...
January 13, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28092914/paraneoplastic-cerebellar-degeneration-associated-with-pelvic-liposarcoma-a-rare-case-report
#14
Liang Zhou, Xin Wei, Nian-Wei Wu, Han-Mei Zhang, Bang-Hua Liao, Shu-Lian Chen, Hong Li, Yu-Chun Zhu, Kun-Jie Wang
Paraneoplastic cerebellar degeneration (PCD) is one of the most common paraneoplastic neurological syndromes characterized by the rapid development of severe cerebellar ataxia. In this report, a 23-year-old female with noticeable dizziness and gait instability was described. The enhanced CT scanning suggested the presence of a pelvic tumor. Then, PCD was established. Postoperative pathological result defined it as a liposarcoma (LS) with dedifferentiation. Interestingly, clinical symptoms disappeared after the surgical removal of the pelvic tumor...
January 17, 2017: Urologia Internationalis
https://www.readbyqxmd.com/read/28090073/a-case-of-miller-fisher-syndrome-thromboembolic-disease-and-angioedema-association-or-coincidence
#15
Nooshin Salehi, Eric D Choi, Roger C Garrison
BACKGROUND Miller Fisher Syndrome is characterized by the clinical triad of ophthalmoplegia, ataxia, and areflexia, and is considered to be a variant of Guillain-Barre Syndrome. Miller Fisher Syndrome is observed in approximately 1-5% of all Guillain-Barre cases in Western countries. Patients with Miller Fisher Syndrome usually have good recovery without residual deficits. Venous thromboembolism is a common complication of Guillain-Barre Syndrome and has also been reported in Miller Fisher Syndrome, but it has generally been reported in the presence of at least one prothrombotic risk factor such as immobility...
January 16, 2017: American Journal of Case Reports
https://www.readbyqxmd.com/read/28089766/males-with-mecp2-c-terminal-related-atypical-rett-syndromes-and-their-carrier-mothers
#16
Gabriel M Ronen, Lauren I Brady, Mark A Tarnopolsky
BACKGROUND: This communication examines the expanding phenotypes of the MECP2 C-terminal atypical Rett syndromes in males and their affected carrier mothers. DESCRIPTIONS: We describe three males with normal karyotypes who presented with congenital evolving complex neurodevelopmental encephalopathies with multifaceted symptomatology of hypotonia, epilepsy, ataxia, spasticity, movement disorders, behavioral issues, severe intellectual impairment, and communication skills, and a protracted regression phase followed by stabilization...
October 25, 2016: Pediatric Neurology
https://www.readbyqxmd.com/read/28088730/dramatic-response-to-pyridoxine-in-a-girl-with-absence-epilepsy-with-ataxia-caused-by-a-de-novo-cacna1a-mutation
#17
Xiaoping Du, You Chen, Yongxiong Zhao, Wei Luo, Zhidong Cen, Weicheng Hao
No abstract text is available yet for this article.
January 3, 2017: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/28086988/computed-tomographic-findings-and-treatment-of-a-bull-with-pituitary-gland-abscess
#18
Ueli Braun, Alexandra Malbon, Manon Kochan, Barbara Riond, Fredi Janett, Cornelia Iten, Matthias Dennler
BACKGROUND: In cattle, the prognosis of brain abscess is unfavourable and treatment is therefore not recommended. To the knowledge of the authors, there has been no report of successful treatment of a brain abscess in cattle.This report describes the clinical, computed tomographic and postmortem findings in a Holstein-Friesian bull with a hypophyseal abscess. CASE REPORT: The main clinical findings were generalised ataxia, ptyalism, prolapse of the tongue, dropped jaw, dysphagia, head tilt and unilateral ptosis...
January 13, 2017: Acta Veterinaria Scandinavica
https://www.readbyqxmd.com/read/28079960/successful-medical-management-of-a-domestic-longhair-cat-with-subdural-intracranial-empyema-and-multifocal-pneumonia
#19
Thomas J A Cardy, Richard Lam, Laureen M Peters, Philippa J McLaren, Màrian Matas Riera, Steven De Decker
OBJECTIVE: To describe a case of successful medical management of subdural intracranial empyema and multifocal pneumonia in a domestic longhaired cat. CASE SUMMARY: A 7-year-and-8-month-old male neutered domestic longhair cat presented with tachypnea, respiratory compromise, vestibular ataxia, obtundation, left-sided head tilt, and multiple cranial nerve deficits. Neuroanatomical localization was multifocal with central vestibular involvement. Magnetic resonance imaging of the head indicated diffuse subdural empyema, mainly affecting the middle cranial fossa and the right cerebrum...
January 12, 2017: Journal of Veterinary Emergency and Critical Care
https://www.readbyqxmd.com/read/28079319/erratum-to-ataxia-with-oculomotor-apraxia-type-1-without-oculomotor-apraxia-a-case-report
#20
Minwoo Lee, Nan Young Kim, Jin Young Huh, Young Eun Kim, Yun Joong Kim
This corrects the article on p. 126 in vol. 12, PMID: 26541496.
January 2017: Journal of Clinical Neurology
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