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Huntington disease

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https://www.readbyqxmd.com/read/28813079/diffusion-tensor-imaging-of-brain-white-matter-in-huntington-gene-mutation-individuals
#1
Roberta Arb Saba, James H Yared, Thomas M Doring, Med Phys, Vanderci Borges, Henrique Ballalai Ferraz
Objective: To evaluate the role of the involvement of white matter tracts in huntingtin gene mutation patients as a potential biomarker of the progression of the disease. Methods: We evaluated 34 participants (11 symptomatic huntingtin gene mutation, 12 presymptomatic huntingtin gene mutation, and 11 controls). We performed brain magnetic resonance imaging to assess white matter integrity using diffusion tensor imaging, with measurement of fractional anisotropy...
August 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28807009/adverse-mental-health-outcomes-in-breast-cancer-survivors-compared-to-women-who-did-not-have-cancer-systematic-review-protocol
#2
Helena Carreira, Rachael Williams, Martin Müller, Rhea Harewood, Krishnan Bhaskaran
BACKGROUND: Recent increasing trends in breast cancer incidence and survival have resulted in unprecedented numbers of cancer survivors in the general population. A cancer diagnosis may have a profound psychological impact, and breast cancer treatments often cause long-term physical sequelae, potentially affecting women's mental health. The aim of this systematic review is to identify and summarise all studies that have compared mental health outcomes in breast cancer survivors, versus women who did not have cancer...
August 14, 2017: Systematic Reviews
https://www.readbyqxmd.com/read/28805577/nonmotor-symptoms-in-huntington-disease
#3
Francisco Cardoso
Huntington disease (HD) is characterized by the triad of motor abnormalities, cognitive dysfunction, and behavioral changes. The aim of this chapter is to describe the frequency, clinical features, and management of behavioral and cognitive dysfunction in HD. Depression, suicidal ideation, apathy, irritability, aggressiveness, obsessions, and compulsions are the most common behavioral abnormalities in HD. All HD patients develop cognitive decline. Recent data suggest that these nonmotor changes are found in premanifest HD gene carriers...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28804999/diversity-of-astroglial-responses-across-human-neurodegenerative-disorders-and-brain-aging
#4
Isidro Ferrer
Astrogliopathy refers to alterations of astrocytes occurring in diseases of the nervous system, and it implies the involvement of astrocytes as key elements in the pathogenesis and pathology of diseases and injuries of the central nervous system. Reactive astrocytosis refers to the response of astrocytes to different insults to the nervous system, whereas astrocytopathy indicates hypertrophy, atrophy/degeneration and loss of function and pathological remodeling occurring as a primary cause of a disease or as a factor contributing to the development and progression of a particular disease...
September 2017: Brain Pathology
https://www.readbyqxmd.com/read/28803727/elimination-of-toxic-microsatellite-repeat-expansion-rna-by-rna-targeting-cas9
#5
Ranjan Batra, David A Nelles, Elaine Pirie, Steven M Blue, Ryan J Marina, Harrison Wang, Isaac A Chaim, James D Thomas, Nigel Zhang, Vu Nguyen, Stefan Aigner, Sebastian Markmiller, Guangbin Xia, Kevin D Corbett, Maurice S Swanson, Gene W Yeo
Microsatellite repeat expansions in DNA produce pathogenic RNA species that cause dominantly inherited diseases such as myotonic dystrophy type 1 and 2 (DM1/2), Huntington's disease, and C9orf72-linked amyotrophic lateral sclerosis (C9-ALS). Means to target these repetitive RNAs are required for diagnostic and therapeutic purposes. Here, we describe the development of a programmable CRISPR system capable of specifically visualizing and eliminating these toxic RNAs. We observe specific targeting and efficient elimination of microsatellite repeat expansion RNAs both when exogenously expressed and in patient cells...
August 8, 2017: Cell
https://www.readbyqxmd.com/read/28803251/epidemiological-study-of-huntington-s-disease-in-the-province-of-ferrara-italy
#6
Erika Carrassi, Maura Pugliatti, Vittorio Govoni, Mariachiara Sensi, Ilaria Casetta, Enrico Granieri
BACKGROUND: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder caused by the abnormal expansion of CAG triplet repeat. We aimed to reappraise HD epidemiology in a northern Italian population, in relation to introduction of genetic testing. METHODS: Through ICD-9M code 333.4 and medical fare exemption code RF0080, HD cases were identified from administrative health data and medical records from the Units of Neurology and Genetics, Ferrara University Hospital, and from other provincial neurological structures...
August 12, 2017: Neuroepidemiology
https://www.readbyqxmd.com/read/28802692/de-novo-transcriptome-assembly-and-rna-seq-expression-analysis-in-blood-from-beluga-whales-of-bristol-bay-ak
#7
Jeanine S Morey, Kathy A Burek Huntington, Michelle Campbell, Tonya M Clauss, Caroline E Goertz, Roderick C Hobbs, Denise Lunardi, Amanda J Moors, Marion G Neely, Lori H Schwacke, Frances M Van Dolah
Assessing the health of marine mammal sentinel species is crucial to understanding the impacts of environmental perturbations on marine ecosystems and human health. In Arctic regions, beluga whales, Delphinapterus leucas, are upper level predators that may serve as a sentinel species, potentially forecasting impacts on human health. While gene expression profiling from blood transcriptomes has widely been used to assess health status and environmental exposures in human and veterinary medicine, its use in wildlife has been limited due to the lack of available genomes and baseline data...
August 9, 2017: Marine Genomics
https://www.readbyqxmd.com/read/28801366/fullerenes-may-cause-eif-mediated-perturbation-in-translational-machinery-evidence-from-in-silico-analysis
#8
Sumbul Firdaus, Anupam Dhasmana, Mohd Wahid, Arshad Jawed, Raju K Mandal, Sajad A Dar, Mohammed Y Areeshi, Mohtashim Lohani, Shafiul Haque
GOALS: Fullerenes have tremendous potential for human biological studies which may further lead to their therapeutic applications. Hence, it has become necessary to explore the possibility of their interference with various important cellular processes. The current study was designed to explore how the presence of fullerenes can affect the binding of DNA with different enzymes and factors involved in transcription and translation process. METHODS: Various bioinformatics approaches and software programs were used to study the effect of fullerenes on the binding pattern of DNA with different enzymes and factors involved in transcription and translation process...
August 2017: Annals of Clinical and Laboratory Science
https://www.readbyqxmd.com/read/28801166/nuclear-factor-erythroid-derived-2-like-2-nrf2-drug-discovery-biochemical-toolbox-to-develop-nrf2-activators-by-reversible-binding-of-kelch-like-ech-associated-protein-1-keap1
#9
REVIEW
Alberto Bresciani, Antonino Missineo, Mariana Gallo, Mauro Cerretani, Paola Fezzardi, Licia Tomei, Daniel Oscar Cicero, Sergio Altamura, Alessia Santoprete, Raffaele Ingenito, Elisabetta Bianchi, Robert Pacifici, Celia Dominguez, Ignacio Munoz-Sanjuan, Steven Harper, Leticia Toledo-Sherman, Larry C Park
Mechanisms that activate innate antioxidant responses, as a way to mitigate oxidative stress at the site of action, hold much therapeutic potential in diseases, such as Parkinson's disease, Alzheimer's disease and Huntington's disease, where the use of antioxidants as monotherapy has not yielded positive results. The nuclear factor NRF2 is a transcription factor whose activity upregulates the expression of cell detoxifying enzymes in response to oxidative stress. NRF2 levels are modulated by KEAP1, a sensor of oxidative stress...
August 8, 2017: Archives of Biochemistry and Biophysics
https://www.readbyqxmd.com/read/28799481/evolving-motivations-patients-and-caregivers-perceptions-about-seeking-myotonic-dystrophy-dm1-and-huntington-s-disease-care
#10
Kori A LaDonna, Christopher J Watling, Susan L Ray, Christine Piechowicz, Shannon L Venance
Patient-centered care provision is challenging under ideal circumstances; myotonic dystrophy (DM1) and Huntington's disease (HD) are examples of chronic, progressive health conditions that may challenge its limits. If we can understand how care unfolds in these conditions, health care providers may be better equipped to address patients' needs. Constructivist grounded theory informed data collection and analysis. Fourteen patients with DM1 or HD, and 10 caregivers participated in semistructured interviews. Constant comparative analysis was used to identify themes...
September 2017: Qualitative Health Research
https://www.readbyqxmd.com/read/28798680/striatal-network-models-of-huntington-s-disease-dysfunction-phenotypes
#11
Pengsheng Zheng, James Kozloski
We present a network model of striatum, which generates "winnerless" dynamics typical for a network of sparse, unidirectionally connected inhibitory units. We observe that these dynamics, while interesting and a good match to normal striatal electrophysiological recordings, are fragile. Specifically, we find that randomly initialized networks often show dynamics more resembling "winner-take-all," and relate this "unhealthy" model activity to dysfunctional physiological and anatomical phenotypes in the striatum of Huntington's disease animal models...
2017: Frontiers in Computational Neuroscience
https://www.readbyqxmd.com/read/28798667/the-foxp2-driven-network-in-developmental-disorders-and-neurodegeneration
#12
Franz Oswald, Patricia Klöble, André Ruland, David Rosenkranz, Bastian Hinz, Falk Butter, Sanja Ramljak, Ulrich Zechner, Holger Herlyn
The transcription repressor FOXP2 is a crucial player in nervous system evolution and development of humans and songbirds. In order to provide an additional insight into its functional role we compared target gene expression levels between human neuroblastoma cells (SH-SY5Y) stably overexpressing FOXP2 cDNA of either humans or the common chimpanzee, Rhesus monkey, and marmoset, respectively. RNA-seq led to identification of 27 genes with differential regulation under the control of human FOXP2, which were previously reported to have FOXP2-driven and/or songbird song-related expression regulation...
2017: Frontiers in Cellular Neuroscience
https://www.readbyqxmd.com/read/28797885/mitophagy-in-neurodegenerative-diseases
#13
REVIEW
Carlo Rodolfo, Silvia Campello, Francesco Cecconi
Neurodegenerative diseases, such as Parkinson's disease (PD), Alzheimer's disease (AD), Huntington's disease (HD), and Amyotrophic Lateral Sclerosis (ALS), are a complex "family" of pathologies, characterised by the progressive loss of neurons and/or neuronal functions, leading to severe physical and cognitive inabilities in affected patients. These syndromes, despite differences in the causative events, the onset, and the progression of the disease, share as common features the presence of aggregate-prone neuro-toxic proteins, in the form of aggresomes and/or inclusion bodies, perturbing cellular homeostasis and neuronal function (Popovic et al...
August 7, 2017: Neurochemistry International
https://www.readbyqxmd.com/read/28797122/cross-seeding-of-prions-by-aggregated-%C3%AE-synuclein-leads-to-transmissible-spongiform-encephalopathy
#14
Elizaveta Katorcha, Natallia Makarava, Young Jin Lee, Iris Lindberg, Mervyn J Monteiro, Gabor G Kovacs, Ilia V Baskakov
Aggregation of misfolded proteins or peptides is a common feature of neurodegenerative diseases including Alzheimer's, Parkinson's, Huntington's, prion and other diseases. Recent years have witnessed a growing number of reports of overlap in neuropathological features that were once thought to be unique to only one neurodegenerative disorder. However, the origin for the overlap remains unclear. One possibility is that diseases with mixed brain pathologies might arise from cross-seeding of one amyloidogenic protein by aggregated states of unrelated proteins...
August 10, 2017: PLoS Pathogens
https://www.readbyqxmd.com/read/28796567/receptors-make-the-pathway-choice-for-protein-degradation
#15
Yuchen Feng, Daniel J Klionsky
Damaged or aggregated proteins and organelles accumulate with age and contribute to various age-related pathologies including Alzheimer, Parkinson or Huntington diseases. In eukaryotic cells, there are two major pathways for degradation of the cytoplasm: The ubiquitin-proteasome system (UPS) and macroautophagy/autophagy. Both pathways can share the characteristic of initiating the process by ubiquitination of the substrate, but they utilize different ubiquitin receptors. In a paper described in a punctum in this issue, Lu et al...
August 10, 2017: Autophagy
https://www.readbyqxmd.com/read/28792249/induced-neural-stem-cells-as-a-means-of-treatment-in-huntington-s-disease
#16
Kyung-Ah Choi, Sunghoi Hong
Huntington's disease (HD) is an inherited neurodegenerative disease characterized by chorea, dementia, and depression caused by progressive nerve cell degeneration, which is triggered by expanded CAG repeats in the huntingtin (Htt) gene. Currently, there is no cure for this disease, nor is there an effective medicine available to delay or improve the physical, mental, and behavioral severities caused by it. Areas covered: In this review, the authors describe the use of induced neural stem cells (iNSCs) by direct conversion technology, which offers great advantages as a therapeutic cell type to treat HD...
August 9, 2017: Expert Opinion on Biological Therapy
https://www.readbyqxmd.com/read/28791420/melatonin-as-a-mitochondrial-protector-in-neurodegenerative-diseases
#17
REVIEW
Pawaris Wongprayoon, Piyarat Govitrapong
Mitochondria are crucial organelles as their role in cellular energy production of eukaryotes. Because the brain cells demand high energy for maintaining their normal activities, disturbances in mitochondrial physiology may lead to neuropathological events underlying neurodegenerative conditions such as Alzheimer's disease, Parkinson's disease and Huntington's disease. Melatonin is an endogenous compound with a variety of physiological roles. In addition, it possesses potent antioxidant properties which effectively play protective roles in several pathological conditions...
August 8, 2017: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/28790012/mdivi-1-ameliorates-early-brain-injury-after-subarachnoid-hemorrhage-via-the-suppression-of-inflammation-related-blood-brain-barrier-disruption-and-endoplasmic-reticulum-stress-based-apoptosis
#18
Lin-Feng Fan, Ping-You He, Yu-Cong Peng, Qing-Hua Du, Yi-Jun Ma, Jian-Xiang Jin, Hang-Zhe Xu, Jian-Ru Li, Zhi-Jiang Wang, Sheng-Long Cao, Tao Li, Feng Yan, Chi Gu, Lin Wang, Gao Chen
Aberrant modulation of mitochondrial dynamic network, which shifts the balance of fusion and fission towards fission, is involved in brain damage of various neurodegenerative diseases including Parkinson's disease, Huntington's disease and Alzheimer's disease. A recent research has shown that the inhibition of mitochondrial fission alleviates early brain injury after experimental subarachnoid hemorrhage, however, the underlying molecular mechanisms have remained to be elucidated. This study was undertaken to characterize the effects of the inhibition of dynamin-related protein-1 (Drp1, a dominator of mitochondrial fission) on blood-brain barrier (BBB) disruption and neuronal apoptosis following SAH and the potential mechanisms...
August 5, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/28789621/tics-as-an-initial-manifestation-of-juvenile-huntington-s-disease-case-report-and-literature-review
#19
Shi-Shuang Cui, Ru-Jing Ren, Ying Wang, Gang Wang, Sheng-Di Chen
BACKGROUND: Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. CASE PRESENTATION: A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients...
August 8, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28782830/altered-behavioral-responses-to-gamma-aminobutyric-acid-pharmacological-agents-in-a-mouse-model-of-huntington-s-disease
#20
Yi-Ting Hsu, Ya-Gin Chang, Ching-Pang Chang, Jian-Jing Siew, Hui-Mei Chen, Chon-Haw Tsai, Yijuang Chern
BACKGROUND: Disruptions in gamma-aminobutyric (GABA) acid signaling are believed to be involved in Huntington's disease pathogenesis, but the regulation of GABAergic signaling remains elusive. Here we evaluated GABAergic signaling by examining the function of GABAergic drugs in Huntington's disease and the expression of GABAergic molecules using mouse models and human brain tissues from Huntington's disease. METHODS: We treated wild-type and R6/2 mice (a transgenic Huntington's disease mouse model) acutely with vehicle, diazepam, or gaboxadol (drugs that selectively target synaptic or extrasynaptic GABAA receptors) and monitored their locomotor activity...
August 7, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
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