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https://www.readbyqxmd.com/read/28213602/understanding-the-epidemiology-of-avoidable-significant-harm-in-primary-care-protocol-for-a-retrospective-cross-sectional-study
#1
Brian G Bell, Stephen Campbell, Andrew Carson-Stevens, Huw Prosser Evans, Alison Cooper, Christina Sheehan, Sarah Rodgers, Christine Johnson, Adrian Edwards, Sarah Armstrong, Rajnikant Mehta, Antony Chuter, Ailsa Donnelly, Darren M Ashcroft, Joanne Lymn, Pam Smith, Aziz Sheikh, Matthew Boyd, Anthony J Avery
INTRODUCTION: Most patient safety research has focused on specialist-care settings where there is an appreciation of the frequency and causes of medical errors, and the resulting burden of adverse events. There have, however, been few large-scale robust studies that have investigated the extent and severity of avoidable harm in primary care. To address this, we will conduct a 12-month retrospective cross-sectional study involving case note review of primary care patients. METHODS AND ANALYSIS: We will conduct electronic searches of general practice (GP) clinical computer systems to identify patients with avoidable significant harm...
February 17, 2017: BMJ Open
https://www.readbyqxmd.com/read/28211486/motor-phenotype-is-not-associated-with-vascular-dysfunction-in-symptomatic-huntington-s-disease-transgenic-r6-2-160-cag-mice
#2
A Di Pardo, A Carrizzo, A Damato, S Castaldo, E Amico, L Capocci, M Ambrosio, F Pompeo, C De Sanctis, C C Spinelli, A A Puca, P Remondelli, V Maglione, C Vecchione
Whereas Huntington's disease (HD) is unequivocally a neurological disorder, a critical mass of emerging studies highlights the occurrence of peripheral pathology like cardiovascular defects in both animal models and humans. The overt impairment in cardiac function is normally expected to be associated with peripheral vascular dysfunction, however whether this assumption is reasonable or not in HD is still unknown. In this study we functionally characterized the vascular system in R6/2 mouse model (line 160 CAG), which recapitulates several features of human pathology including cardiac disease...
February 17, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28209611/genetic-manipulation-of-helicobacter-pylori-virulence-function-by-host-carcinogenic-phenotypes
#3
Giovanni Suarez, Judith Romero-Gallo, Johanna C Sierra, M Blanca Piazuelo, Uma Krishna, Martin Alonso Gomez, Keith T Wilson, Richard M Peek
Helicobacter pylori is the strongest risk factor for gastric adenocarcinoma, yet only a minority of infected persons ever develop this malignancy. One cancer-linked locus is the cag type 4 secretion system (cagT4SS), which translocates an oncoprotein into host cells. A structural component of the cagT4SS is CagY, which become rapidly altered during in vivo adaptation in mice and rhesus monkeys, rendering the cagT4SS nonfunctional; however, these models rarely develop gastric cancer. We previously demonstrated that the H...
February 16, 2017: Cancer Research
https://www.readbyqxmd.com/read/28207539/role-of-coronary-angiography-for-out-of-hospital-cardiac-arrest-survivors-according-to-postreturn-of-spontaneous-circulation-on-an-electrocardiogram
#4
Tae Rim Lee, Sung Yeon Hwang, Won Chul Cha, Tae Gun Shin, Min Seob Sim, Ik Joon Jo, Keun Jeong Song, Joong Eui Rhee, Yeon Kwon Jeong
Survivors of out-of-hospital cardiac arrest (OHCA) have high mortality and morbidity. An acute coronary event is the most common cause of sudden cardiac death. For this reason, coronary angiography is an important diagnostic and treatment strategy for patients with postcardiac arrest. This study aimed to identify the correlation between postreturn of spontaneous circulation (ROSC) on an electrocardiogram (ECG) and results of coronary angiography of OHCA survivors.We collected data from our OHCA registry from January 2010 to November 2014...
February 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28205498/cognitive-control-learning-and-clinical-motor-ratings-are-most-highly-associated-with-basal-ganglia-brain-volumes-in-the-premanifest-huntington-s-disease-phenotype
#5
Maria B Misiura, Spencer Lourens, Vince D Calhoun, Jeffrey Long, Jeremy Bockholt, Hans Johnson, Ying Zhang, Jane S Paulsen, Jessica A Turner, Jingyu Liu, Betul Kara, Elizabeth Fall
OBJECTIVES: Huntington's disease (HD) is a debilitating genetic disorder characterized by motor, cognitive and psychiatric abnormalities associated with neuropathological decline. HD pathology is the result of an extended chain of CAG (cytosine, adenine, guanine) trinucleotide repetitions in the HTT gene. Clinical diagnosis of HD requires the presence of an otherwise unexplained extrapyramidal movement disorder in a participant at risk for HD. Over the past 15 years, evidence has shown that cognitive, psychiatric, and subtle motor dysfunction is evident decades before traditional motor diagnosis...
February 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28202696/low-cancer-prevalence-in-polyglutamine-expansion-diseases
#6
Giulia Coarelli, Alhassane Diallo, Morgane Sonia Thion, Daisy Rinaldi, Fabienne Calvas, Ouahid Lagha Boukbiza, Alina Tataru, Perrine Charles, Christine Tranchant, Cecilia Marelli, Claire Ewenczyk, Maya Tchikviladzé, Marie-Lorraine Monin, Bertrand Carlander, Mathieu Anheim, Alexis Brice, Fanny Mochel, Sophie Tezenas du Montcel, Sandrine Humbert, Alexandra Durr
OBJECTIVE: Polyglutamine (PolyQ) diseases are dominantly transmitted neurologic disorders, caused by coding and expanded CAG trinucleotide repeats. Cancer was reported retrospectively to be rare in patients with PolyQ diseases and we aimed to investigate its prevalence in France. METHODS: Consecutive patients with Huntington disease (HD) and spinocerebellar ataxia (SCA) were questioned about cancer, cardiovascular diseases, and related risk factors in 4 university hospitals in Paris, Toulouse, Strasbourg, and Montpellier...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28202125/-effect-of-telomerase-activation-on-biological-behaviors-of-neural-stem-cells-in-rats-with-hypoxic-ischemic-insults
#7
Jun-Jie Meng, Shi-Ping Li, Feng-Yan Zhao, Yu Tong, De-Zhi Mu, Yi Qu
OBJECTIVE: To investigate the effect of telomerase activation on biological behaviors of neural stem cells after hypoxic-ischemic insults. METHODS: The neural stem cells passaged in vitro were divided into four groups: control, oxygen-glucose deprivation (OGD), OGD+cycloastragenol (CAG) high concentration (final concentration of 25 μM), and OGD+CAG low concentration (final concentration of 10 μM). The latter three groups were subjected to OGD. Telomerase reverse transcriptase (TERT) expression level was evaluated by Western blot...
February 2017: Zhongguo Dang Dai Er Ke za Zhi, Chinese Journal of Contemporary Pediatrics
https://www.readbyqxmd.com/read/28194232/post-challenge-insulin-concentration-is-useful-for-differentiating-between-coronary-artery-disease-and-cardiac-syndrome-x-in-subjects-without-known-diabetes-mellitus
#8
Kae-Woei Liang, Wayne H-H Sheu, Wen-Jane Lee, Wen-Lieng Lee, Hung-Chih Pan, I-Te Lee, Jun-Sing Wang
BACKGROUND: Cardiac syndrome X (CSX) is characterized by angina pectoris but with patent coronary arteries. Our previous study demonstrated that subjects with CSX had a higher fasting insulin-resistance (IR) than the controls. However, few studies have investigated the degree of IR, including oral glucose tolerance test (OGTT)-derived indices and profiles of metabolic abnormalities between CSX and coronary artery disease (CAD). METHODS: Ninety-two CSX and 145 CAD subjects without known diabetes mellitus (DM) underwent coronary angiogram (CAG) for angina pectoris and also agreed to receive OGTT and glycated hemoglobin (HbA1C) evaluations for screening abnormal glucose regulation and IR...
2017: Diabetology & Metabolic Syndrome
https://www.readbyqxmd.com/read/28190514/transluminal-attenuation-gradient-and-corrected-models-in-coronary-ct-angiography-for-determining-stenosis-severity-a-primary-study-using-dual-source-ct
#9
K Peng, N Xu, L Zhang, F Xiao, N Indima, J Zhang, Y Shen, W Peng, G Tang
AIM: To compare the incremental value of transluminal attenuation gradient (TAG), TAG with corrected contrast opacification (TAG-CCO), and TAG with exclusion of calcified coronary segments (TAG-ExC) in determining the stenosis severity of coronary arteries using coronary angiography (CAG) as the reference standard. MATERIALS AND METHODS: One hundred and fifteen patients who underwent computed tomography coronary angiography (CTCA) and confirmed by coronary angiography (CAG) were included in the retrospective analysis...
February 9, 2017: Clinical Radiology
https://www.readbyqxmd.com/read/28186586/-analysis-of-clinical-phenotype-and-genotype-of-unstable-hemoglobin-rush
#10
Shijun Ge, Biqing Yang, Wei Yi, Kai Huang, Hongxian Liu, Xiaoqin Huang, Jiayou Chu, Zhaoqing Yang
OBJECTIVE: To analyze the hematological and genetic characteristics of unstable hemoglobin Rush (Hb Rush) and compound heterozygote of Hb Rush and thalassemia. METHODS: Peripheral blood samples and genomic DNA from three patients (including two ethnic Dai and one Han Chinese) with anemia of undetermined origin were collected. Hematological phenotypes of these patients were determined through red blood cell analysis and hemoglobin electrophoresis. Genotypes of alpha- and beta-globin genes, -158 XmnⅠ polymorphic site of (G)γ promoter region, and haplotypes of 7 polymorphic restriction sites in the beta-globin gene cluster were determined using PCR-based methods and DNA sequencing...
February 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28185827/ttp-one-of-the-tma-s-how-to-sort-it-out
#11
REVIEW
William Clark, Ronan Foley, Susan Huang, Vincent Laroche, John Klassen, Christopher Patriquin, Katrina Pavenski, Gail Rock
No abstract text is available yet for this article.
January 4, 2017: Transfusion and Apheresis Science
https://www.readbyqxmd.com/read/28182673/the-expanded-cag-repeat-in-the-huntingtin-gene-as-target-for-therapeutic-rna-modulation-throughout-the-hd-mouse-brain
#12
Nicole A Datson, Anchel González-Barriga, Eleni Kourkouta, Rudie Weij, Jeroen van de Giessen, Susan Mulders, Outi Kontkanen, Taneli Heikkinen, Kimmo Lehtimäki, Judith C T van Deutekom
The aim of these studies was to demonstrate the therapeutic capacity of an antisense oligonucleotide with the sequence (CUG)7 targeting the expanded CAG repeat in huntingtin (HTT) mRNA in vivo in the R6/2 N-terminal fragment and Q175 knock-in Huntington's disease (HD) mouse models. In a first study, R6/2 mice received six weekly intracerebroventricular infusions with a low and high dose of (CUG)7 and were sacrificed 2 weeks later. A 15-60% reduction of both soluble and aggregated mutant HTT protein was observed in striatum, hippocampus and cortex of (CUG)7-treated mice...
2017: PloS One
https://www.readbyqxmd.com/read/28175398/differential-requirement-of-srs2-helicase-and-rad51-displacement-activities-in-replication-of-hairpin-forming-cag-ctg-repeats
#13
Jennifer H G Nguyen, David Viterbo, Ranjith P Anand, Lauren Verra, Laura Sloan, Guy-Franck Richard, Catherine H Freudenreich
No abstract text is available yet for this article.
February 8, 2017: Nucleic Acids Research
https://www.readbyqxmd.com/read/28170216/proteins-containing-expanded-polyglutamine-tracts-and-neurodegenerative-disease
#14
Adewale Adegbuyiro, Faezeh Sedighi, Albert W Pilkington, Sharon Groover, Justin Legleiter
Several hereditary neurological and neuromuscular diseases are caused by an abnormal expansion of trinucleotide repeats. To date, there have been ten of these trinucleotide repeat disorders associated with an expansion of the codon CAG encoding glutamine (Q). For these polyglutamine (polyQ) diseases, there is a critical threshold length of the CAG repeat required for disease, and further expansion beyond this threshold is correlated with age of onset and symptom severity. PolyQ expansion in the translated proteins promotes their self-assembly into a variety of oligomeric and fibrillar aggregate species that accumulate into the hallmark proteinaceous inclusion bodies associated with each disease...
February 7, 2017: Biochemistry
https://www.readbyqxmd.com/read/28168595/juvenile-huntington-s-disease-diagnostic-and-treatment-considerations-for-the-psychiatrist
#15
REVIEW
Joanna Quigley
Juvenile Huntington's disease (JHD) is a neurodegenerative disease with onset prior to the age of 21. While it accounts for a relatively small proportion of Huntington's disease (HD) diagnoses, its impact is significant on the quality of life for those affected. Clinicians may be unaware that HD can present in childhood and adolescence, delaying diagnosis. HD develops due to an expanded CAG repeat in the huntington gene. Rigidity, dystonia, and seizures are more common in JHD. Cognitive changes such as executive function impairments and decline in school performance are common...
February 2017: Current Psychiatry Reports
https://www.readbyqxmd.com/read/28168008/protective-effect-of-antioxidants-on-neuronal-dysfunction-and-plasticity-in-huntington-s-disease
#16
REVIEW
Thirunavukkarasu Velusamy, Archana S Panneerselvam, Meera Purushottam, Muthuswamy Anusuyadevi, Pramod Kumar Pal, Sanjeev Jain, Musthafa Mohamed Essa, Gilles J Guillemin, Mahesh Kandasamy
Huntington's disease (HD) is characterised by movement disorders, cognitive impairments, and psychiatric problems. The abnormal generation of reactive oxygen species and the resulting oxidative stress-induced mitochondrial damage in neurons upon CAG mutations in the HTT gene have been hypothesized as the contributing factors of neurodegeneration in HD. The potential use of antioxidants against free radical toxicity has been an emerging field in the management of ageing and many neurodegenerative disorders. Neural stem cells derived adult neurogenesis represents the regenerative capacity of the adult brain...
2017: Oxidative Medicine and Cellular Longevity
https://www.readbyqxmd.com/read/28165447/an-aavrh10-cag-cyp21-ha-vector-allows-persistent-correction-of-21-hydroxylase-deficiency-in-a-cyp21-mouse-model
#17
M Perdomini, C Dos Santos, C Goumeaux, V Blouin, P Bougnères
The treatment of severe forms of 21-hydroxylase deficiency (21OHD) remains unsatisfactory in many respects. As a monogenic disease caused by loss-of-function mutations, 21OHD is a potential candidate for a gene therapy (GT) approach. The first step of GT is to demonstrate positive effects of the therapeutic vector in the Cyp21(-/--) mouse model. Thus we tested the adrenal tropism of an AAVrh10-CAG-GFP vector ('GFP vector') then attempted to correct the phenotypic and biochemical alterations in Cyp21(-/-) mice using an AAVrh10-CAG-humanCYP21A2-HA vector ('CYP21 vector')...
February 6, 2017: Gene Therapy
https://www.readbyqxmd.com/read/28165127/novel-allele-specific-quantification-methods-reveal-no-effects-of-adult-onset-cag-repeats-on-htt-mrna-and-protein-levels
#18
Aram Shin, Baehyun Shin, Jun Wan Shin, Kyung-Hee Kim, Ranjit S Atwal, Jennifer M Hope, Tammy Gillis, John D Leszyk, Scott A Shaffer, Ramee Lee, Seung Kwak, Marcy E MacDonald, James F Gusella, Ihn Sik Seong, Jong-Min Lee
No abstract text is available yet for this article.
February 6, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28158319/dnmt-1-maintains-hypermethylation-of-cag-promoter-specific-region-and-prevents-expression-of-exogenous-gene-in-fat-1-transgenic-sheep
#19
Chunrong Yang, Xueying Shang, Lei Cheng, Lei Yang, Xuefei Liu, Chunling Bai, Zhuying Wei, Jinlian Hua, Guangpeng Li
Methylation is an important issue in gene expression regulation and also in the fields of genetics and reproduction. In this study, we created fat-1 transgenic sheep, investigated the fine-mapping and the modulatory mechanisms of promoter methylation. Sheep fetal fibroblasts were transfected by pCAG-fat1-IRES-EGFP. Monoclonal cell line was screened as nuclear donor and carried out nuclear transfer (441 transgenic cloned embryos, 52 synchronism recipient sheep). Six offsprings were obtained. Expressions of exogenous genes fat-1 and EGFP were detectable in 10 examined tissues and upregulated omega-3 fatty acid content...
2017: PloS One
https://www.readbyqxmd.com/read/28155235/the-danish-hd-registry-dhr-a-nationwide-family-registry-of-hd-families-in-denmark
#20
Mette Gilling, Esben Budtz-Jørgensen, Susanne E Boonen, Dorte Lildballe, Anders Bojesen, Jens Michael Hertz, Sven Asger Sørensen
The Danish Huntington's Disease Registry (DHR) is a nationwide family registry comprising 14.245 individuals from 445 HD families of which the largest family includes 845 individuals in 8 generations. 1.136 DNA and/or blood samples and 18 fibroblast cultures are stored in a local biobank. The birthplace of the oldest HD carrier in each of the 261 families of Danish origin was unevenly distributed across Denmark with a high number of families in the middle part of the peninsula Jutland and in Copenhagen, the capital...
February 2, 2017: Clinical Genetics
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