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https://www.readbyqxmd.com/read/28230015/screening-of-gene-mutations-associated-with-bone-metastasis-in-nonsmall-cell-lung-cancer
#1
Kun Zhang, Min Zhang, Jinlong Zhu, Wang Hong
OBJECTIVE: The objective of this study is to assess the gene mutation of advanced nonsmall cell lung cancer (NSCLC) patients with bone metastasis using next-generation sequencing (NGS), and screen for the driver genes which are associated with bone metastasis of lung cancer. MATERIALS AND METHODS: Eight clinicopathologic samples from advanced NSCLC combined with bone metastasis patients were collected. Exome sequencing was conducted within 483 tumor-associated genes using Hiseq 2000_PE75 NGS platform...
December 2016: Journal of Cancer Research and Therapeutics
https://www.readbyqxmd.com/read/28229454/analysis-of-a-fully-penetrant-spinocerebellar-ataxia-type-8-brazilian-family
#2
V P Cintra, C M Lourenço, M M V Rocha, P J Tomaselli, W Marques
Spinocerebellar ataxia type 8 (SCA8) is a progressive neurological disorder caused by the expanded repeat CTA/CTG of two overlapping genes, ATXN8OS and ATXN8, expressed bidirectionally. Normal alleles have 15-50 repeats, and pathogenic alleles range from 71 to 1300 repeats. The disorder is relatively rare, accounting for about 2%-5% of the autosomal dominant forms of hereditary ataxia worldwide. However, the prevalence of disease-causing ATXN8OS/ATXN8 expansions is higher than the disease because of the reduced penetrance of the expanded allele...
February 22, 2017: Acta Neurologica Scandinavica
https://www.readbyqxmd.com/read/28229372/measuring-inhibition-and-cognitive-flexibility-in-friedreich-ataxia
#3
Louise A Corben, Felicity Klopper, Monique Stagnitti, Nellie Georgiou-Karistianis, John L Bradshaw, Gary Rance, Martin B Delatycki
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder with subtle impact on cognition. Inhibitory processes and cognitive flexibility were examined in FRDA by assessing the ability to suppress a predictable verbal response. We administered the Hayling Sentence Completion Test (HSCT), the Trail Making Test, and the Stroop Test to 43 individuals with FRDA and 42 gender- and age-matched control participants. There were no significant group differences in performance on the Stroop or Trail Making Test whereas significant impairment in cognitive flexibility including the ability to predict and inhibit a pre-potent response as measured in the HSCT was evident in individuals with FRDA...
February 22, 2017: Cerebellum
https://www.readbyqxmd.com/read/28228265/e3-ligase-rnf126-directly-ubiquitinates-frataxin-promoting-its-degradation-identification-of-a-potential-therapeutic-target-for-friedreich-ataxia
#4
Monica Benini, Silvia Fortuni, Ivano Condò, Giulia Alfedi, Florence Malisan, Nicola Toschi, Dario Serio, Damiano Sergio Massaro, Gaetano Arcuri, Roberto Testi, Alessandra Rufini
Friedreich ataxia (FRDA) is a severe genetic neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin. To date, there is no therapy to treat this condition. The amount of residual frataxin critically affects the severity of the disease; thus, attempts to restore physiological frataxin levels are considered therapeutically relevant. Frataxin levels are controlled by the ubiquitin-proteasome system; therefore, inhibition of the frataxin E3 ligase may represent a strategy to achieve an increase in frataxin levels...
February 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28228262/targeting-dna-damage-response-in-prostate-cancer-by-inhibiting-androgen-receptor-cdc6-atr-chk1-signaling
#5
Styliani Karanika, Theodoros Karantanos, Likun Li, Jianxiang Wang, Sanghee Park, Guang Yang, Xuemei Zuo, Jian H Song, Sankar N Maity, Ganiraju C Manyam, Bradley Broom, Ana M Aparicio, Gary E Gallick, Patricia Troncoso, Paul G Corn, Nora Navone, Wei Zhang, Shuhua Li, Timothy C Thompson
Cell division cycle 6 (CDC6), an androgen receptor (AR) target gene, is implicated in regulating DNA replication and checkpoint mechanisms. CDC6 expression is increased during prostate cancer (PCa) progression and positively correlates with AR in PCa tissues. AR or CDC6 knockdown, together with AZD7762, a Chk1/2 inhibitor, results in decreased TopBP1-ATR-Chk1 signaling and markedly increased ataxia-telangiectasia-mutated (ATM) phosphorylation, a biomarker of DNA damage, and synergistically increases treatment efficacy...
February 21, 2017: Cell Reports
https://www.readbyqxmd.com/read/28226077/superficial-siderosis-of-the-central-nervous-system-is-a-rare-and-possibly-underdiagnosed-disorder
#6
Yara Dadalti Fragoso, Tarso Adoni, Joseph Bruno Bidin Brooks, Sidney Gomes, Marcus Vinicius Magno Goncalves, Cassio Lemos Jovem, Andre Palma da Cunha Matta, Joao Filipe Oliveira, Fabio Siquinelli, Carlos Bernardo Tauil, Guilherme Navarro Troiani, Paulo Roberto Wille
Methods: Series of cases collected from Brazilian centers. Results: We studied 13 cases of patients presenting with progressive histories of neurological dysfunction caused by SS-CNS. The most frequent clinical findings in these patients were progressive gait ataxia, hearing loss, hyperreflexia and cognitive dysfunction. The diagnoses of SS-CNS were made seven months to 30 years after the disease onset. Conclusion: SS-CNS is a rare disease that may remain undiagnosed for long periods...
February 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28223212/n-butilydenephthalide-exhibits-protection-against-neurotoxicity-through-regulation-of-tryptophan-2-3-dioxygenase-in-spinocerebellar-ataxia-type-3
#7
Karthyayani Rajamani, Jen-Wei Liu, Cheng-Han Wu, I-Tsang Chiang, Deng-Huwei You, Si-Yin Lin, Dean-Kuo Hsieh, Shinn-Zong Lin, Horng-Jyh Harn, Tzyy-Wen Chiou
Spinocerebellar ataxia type 3 or Machado-Joseph disease (SCA3/MJD) is characterized by the repetition of a CAG codon in the ataxin-3 gene (ATXN3), which leads to the formation of an elongated mutant ATXN3 protein that can neither be denatured nor undergo proteolysis in the normal manner. This abnormal proteolysis leads to the accumulation of cleaved fragments, which have been identified as toxic and further they act as a seed for more aggregate formation, thereby increasing toxicity in neuronal cells. To date, there have been few studies or treatment strategies that have focused on controlling toxic fragment formation...
February 18, 2017: Neuropharmacology
https://www.readbyqxmd.com/read/28220368/embolization-of-ruptured-arteriovenous-malformations-in-the-cerebellopontine-angle-cistern
#8
Hidenori Endo, Shin-Ichiro Osawa, Yasushi Matsumoto, Toshiki Endo, Kenichi Sato, Kuniyasu Niizuma, Miki Fujimura, Teiji Tominaga
Among brainstem arteriovenous malformations (AVMs), there exist small AVMs predominantly located in the cerebellopontine angle cistern (CPAC) with minimal extension into the pial surface of the brainstem. However, previous studies of CPAC AVMs did not particularly discuss the role of embolization in the treatment of these lesions. This study was conducted to clarify the effectiveness and validity of embolization in the treatment of CPAC AVMs. We retrospectively reviewed five patients with CPAC AVMs who underwent endovascular treatment...
February 20, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28217170/neuroblastoma-presenting-as-opsoclonus-myoclonus-a-series-of-six-cases-and-review-of-literature
#9
Jagdish P Meena, Rachna Seth, Biswaroop Chakrabarty, Sheffali Gulati, Sandeep Agrawala, Priyanka Naranje
The opsoclonus-myoclonus ataxia syndrome (OMAS) also called "Kinsbourne syndrome" or "dancing eye syndrome" is a rare but serious disorder characterized by opsoclonus, myoclonus, and ataxia, along with extreme irritability and behavioural changes. Data on its epidemiology, clinical features, and outcome are limited worldwide. The aim of the study was to evaluate the clinical profile and outcome of children with OMAS. A retrospective data of all children presented to Pediatric oncology clinic with a diagnosis of opsoclonus-myoclonus from 2013 to 2016 were collected...
October 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28216637/mutations-underlying-episodic-ataxia-type-1-antagonize-kv1-1-rna-editing
#10
Elizabeth A Ferrick-Kiddie, Joshua J C Rosenthal, Gregory D Ayers, Ronald B Emeson
Adenosine-to-inosine RNA editing in transcripts encoding the voltage-gated potassium channel Kv1.1 converts an isoleucine to valine codon for amino acid 400, speeding channel recovery from inactivation. Numerous Kv1.1 mutations have been associated with the human disorder Episodic Ataxia Type-1 (EA1), characterized by stress-induced ataxia, myokymia, and increased prevalence of seizures. Three EA1 mutations, V404I, I407M, and V408A, are located within the RNA duplex structure required for RNA editing. Each mutation decreased RNA editing both in vitro and using an in vivo mouse model bearing the V408A allele...
February 20, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28216058/sca13-causes-dominantly-inherited-non-progressive-myoclonus-ataxia
#11
Solveig Montaut, Emmanuelle Apartis, Jean-Baptiste Chanson, Claire Ewenczyk, Mathilde Renaud, Claire Guissart, Jean Muller, André Pierre Legrand, Alexandra Durr, Vincent Laugel, Michel Koenig, Christine Tranchant, Mathieu Anheim
INTRODUCTION: Spinocerebellar ataxia 13 (SCA13) is a rare autosomal dominant cerebellar ataxia. To our knowledge, its association to movement disorders has never been described. We aimed at reporting 8 new SCA13 cases with a focus on movement disorders especially myoclonus. METHODS: We performed a detailed neurological examination and neurophysiological recording in 8 patients consecutively diagnosed with SCA13 between December 2013 and October 2015 and followed up in two French tertiary centers...
February 11, 2017: Parkinsonism & related Disorders
https://www.readbyqxmd.com/read/28214063/multiple-cranial-nerve-neuropathies-ataxia-and-areflexia-miller-fisher-syndrome-in-a-child-and-review
#12
Antonio E Muñiz
No abstract text is available yet for this article.
July 25, 2016: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28213665/neurologic-manifestations-of-vitamin-b-deficiency-after-bariatric-surgery
#13
Suriya Punchai, Zubaidah Nor Hanipah, Katherine M Meister, Philip R Schauer, Stacy A Brethauer, Ali Aminian
INTRODUCTION: The aim of this study was to assess the incidence, clinical presentation, and outcomes of neurologic disorders secondary to vitamin B deficiencies following bariatric surgery. METHODS: Patients at a single academic institution who underwent bariatric surgery and developed neurologic complications secondary to low levels of vitamins B1, B2, B6, and B12 between the years 2004 and 2015 were studied. RESULTS: In total, 47 (0.7%) bariatric surgical patients (Roux-en-Y gastric bypass n = 36, sleeve gastrectomy n = 9, and duodenal switch n = 2) developed neurologic manifestations secondary to vitamin B deficiencies...
February 17, 2017: Obesity Surgery
https://www.readbyqxmd.com/read/28213501/immature-lymphocytes-inhibit-rag1-and-rag2-transcription-and-v-d-j-recombination-in-response-to-dna-double-strand-breaks
#14
Megan R Fisher, Adrian Rivera-Reyes, Noah B Bloch, David G Schatz, Craig H Bassing
Mammalian cells have evolved a common DNA damage response (DDR) that sustains cellular function, maintains genomic integrity, and suppresses malignant transformation. In pre-B cells, DNA double-strand breaks (DSBs) induced at Igκ loci by the Rag1/Rag2 (RAG) endonuclease engage this DDR to modulate transcription of genes that regulate lymphocyte-specific processes. We previously reported that RAG DSBs induced at one Igκ allele signal through the ataxia telangiectasia mutated (ATM) kinase to feedback-inhibit RAG expression and RAG cleavage of the other Igκ allele...
February 17, 2017: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/28212620/clinical-manifestations-of-severe-enterovirus-71-infection-and-early-assessment-in-a-southern-china-population
#15
Si-da Yang, Pei-Qing Li, Yi-Min Li, Wei Li, Wen-Ying Lai, Cui-Ping Zhu, Jian-Ping Tao, Li Deng, Hong-Sheng Liu, Wen-Cheng Ma, Jia-Ming Lu, Yan Hong, Yu-Ting Liang, Jun Shen, Dan-Dan Hu, Yuan-Yuan Gao, Yi Zhou, Min-Xiong Situ, Yan-Ling Chen
BACKGROUND: Enterovirus 71 (EV-A71) shows a potential of rapid death, but the natural history of the infection is poorly known. This study aimed to examine the natural history of EV-A71 infection. METHODS: This was a prospective longitudinal observational study performed between January 1(st) and October 31(st), 2012, at three hospitals in Guangdong, China. Subjects with positive EV-A71 RNA laboratory test results were included. Disease progression was documented with MRI, autopsies, and follow-up...
February 17, 2017: BMC Infectious Diseases
https://www.readbyqxmd.com/read/28212558/ataxin-1-regulates-epithelial-mesenchymal-transition-of-cervical-cancer-cells
#16
A-Ram Kang, Hyoung-Tae An, Jesang Ko, Seongman Kang
The mutant form of the protein ataxin-1 (ATXN1) causes the neurodegenerative disease spinocerebellar ataxia type-1. Recently, ATXN1 was reported to enhance E-cadherin expression in the breast cancer cell line MCF-7, suggesting a potential association between ATXN1 and cancer development. In the present study, we discovered a novel mechanism through which ATXN1 regulates the epithelial-mesenchymal transition (EMT) of cancer cells. Hypoxia-induced upregulation of the Notch intracellular domain expression decreased ATXN1 expression via MDM2-associated ubiquitination and degradation...
February 14, 2017: Oncotarget
https://www.readbyqxmd.com/read/28211985/a-girl-with-developmental-delay-ataxia-cranial-nerve-palsies-severe-respiratory-problems-in-infancy-expanding-ndst1-syndrome
#17
Linlea Armstrong, Maja Tarailo-Graovac, Graham Sinclair, Kimberly I Seath, Wyeth W Wasserman, Colin J Ross, Clara D M van Karnebeek
NDST1 encodes an enzyme involved in the first steps in the synthesis of heparan sulfate chains, proteoglycans that are regulators found on the cell surface and in the extracellular matrix. Eight individuals homozygous for one of four family-specific missense mutations in the sulfotransferase domain of the enzyme have been described. They have intellectual disability. Some additionally had hypotonia, ataxia. seizures, and/or short stature, but none had history of respiratory problems. No humans with homozygous null mutations are known...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28211971/atypical-angelman-syndrome-due-to-a-mosaic-imprinting-defect-case-reports-and-review-of-the-literature
#18
Anna Le Fevre, Jasmin Beygo, Cheryl Silveira, Benjamin Kamien, Jill Clayton-Smith, Alison Colley, Karin Buiting, Tracy Dudding-Byth
Angelman syndrome (AS) is characterized by severe intellectual disability, limited, or absent speech and a generally happy demeanor. The four known etiological mechanisms; deletions, uniparental disomy, imprinting defects, and UBE3A mutation all affect expression of the UBE3A gene at 15q11-q13. An atypical phenotype is seen in individuals who are mosaic for a chromosome 15q11-q13 imprinting defect on the maternal allele. These patients present with a milder phenotype, often with hyperphagia and obesity or non-specific intellectual disability...
March 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28207315/diagnosis-of-lumbosacral-diskospondylosis-in-a-bucking-bull-assisted-by-high-definition-thermal-and-nuclear-scintigraphic-imaging
#19
Marc Caldwell, Thomas Passler, Ram C Purohit, David Pascoe, Dwight F Wolfe
CASE DESCRIPTION An 8-year-old Brahman-cross bull was evaluated for left hind limb lameness of 2 months' duration. The lameness was first noticed during a rodeo bucking performance, immediately after the bull appeared to land inappropriately on the affected limb. CLINICAL FINDINGS Physical examination findings revealed left hind limb lameness, ataxia, and left-sided epaxial muscle atrophy. Palpation per rectum along the lumbar portion of the vertebral column revealed evidence of exostosis of the ventral aspect...
March 1, 2017: Journal of the American Veterinary Medical Association
https://www.readbyqxmd.com/read/28206686/nte-pnpla6-is-expressed-in-mature-schwann-cells-and-is-required-for-glial-ensheathment-of-remak-fibers
#20
Janis McFerrin, Bruce L Patton, Elizabeth R Sunderhaus, Doris Kretzschmar
Neuropathy target esterase (NTE) or patatin-like phospholipase domain containing 6 (PNPLA6) was first linked with a neuropathy occurring after organophosphate poisoning and was later also found to cause complex syndromes when mutated, which can include mental retardation, spastic paraplegia, ataxia, and blindness. NTE/PNPLA6 is widely expressed in neurons but experiments with its Drosophila orthologue Swiss-cheese (SWS) suggested that it may also have glial functions. Investigating whether NTE/PNPLA6 is expressed in glia, we found that NTE/PNPLA6 is expressed by Schwann cells in the sciatic nerve of adult mice with the most prominent expression in nonmyelinating Schwann cells...
February 16, 2017: Glia
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