Molecular features unique to glioblastoma radiation resistant residual cells may affect patient outcome - a short report

ConclusionsOur data indicate that molecular features of innately radiation resistant GBM cells independently correlate with clinical outcome. Our study also highlights the relevance of using patient-derived primary GBM cultures for the characterization of RR cells that are otherwise inaccessible for analysis.
Source: Cellular Oncology - Category: Cancer & Oncology Source Type: research

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AbstractGenetic brain channelopathies result from inherited or de novo mutations of genes encoding ion channel subunits within the central nervous system. Most neurological channelopathies arise in childhood with paroxysmal or episodic symptoms, likely because of a transient impairment of homeostatic mechanisms regulating membrane excitability, and the prototypical expression of this impairment is epilepsy. Migraine, episodic ataxia and alternating hemiplegia can also occur, as well as chronic phenotypes, such as spinocerebellar ataxias, intellectual disability and autism spectrum disorder. Voltage-gated and ligand-gated c...
Source: Neurological Sciences - Category: Neurology Source Type: research
AbstractPsychological distress is a public health issue as it contributes to the development of human diseases including neuropathologies. Parkinson ’s disease (PD), a chronic, progressive neurodegenerative disorder, is caused by multiple factors including aging, mitochondrial dysfunction, and/or stressors. In PD, a substantial loss ofsubstantia nigra (SN) neurons leads to rigid tremors, bradykinesia, and chronic fatigue. Several studies have reported that the hypothalamic-pituitary-adrenal (HPA) axis is altered in PD patients, leading to an increase level of cortisol which contributes to neurodegeneration and oxidat...
Source: Molecular Neurobiology - Category: Neurology Source Type: research
Publication date: Available online 12 December 2019Source: Neuroscience &Biobehavioral ReviewsAuthor(s): Janna Krahe, Ferdinand Binkofski, Jörg B. Schulz, Kathrin Reetz, Sandro RomanzettiAbstractMagnetic resonance spectroscopy (MRS) is applied to investigate the neurochemical profiles of degenerative hereditary ataxias. This meta-analysis provides a quantitative review and reappraisal of MRS findings in spinocerebellar ataxias (SCA) and Friedreich ataxia (FA) available to date. From each study, changes in N-acetyl aspartate (NAA), choline-containing compounds (Cho) and myo-Inositol (mI) ratios to total creatine (C...
Source: Neuroscience and Biobehavioral Reviews - Category: Neuroscience Source Type: research
In this study, we examined relationships between the clinical phenotypes of SCAR16 patients and the changes in biophysical, biochemical, and functional properties of the corresponding mutated protein. We found that the severity of ataxia did not correlate with age of onset; however, cognitive dysfunction, increased tendon reflex, and ancestry were able to predict 54% of the variation in ataxia severity. We further identified domain-specific relationships between biochemical changes in CHIP and clinical phenotypes and specific biochemical activities that associate selectively with either increased tendon reflex or cognitive...
Source: Journal of Biological Chemistry - Category: Chemistry Authors: Tags: Molecular Bases of Disease Source Type: research
Publication date: Available online 11 December 2019Source: Pharmacology &TherapeuticsAuthor(s): Alice Bradbury, Sally Hall, Nicola Curtin, Yvette DrewAbstractThe DNA damage response (DDR) machinery is responsible for detecting DNA damage, pausing the cell cycle and initiating DNA repair. Ataxia telangiectasia and Rad3-related (ATR) protein is a key kinase at the heart of the DDR, responsible for sensing replication stress (RS) and signalling it to S and G2/M checkpoints to facilitate repair. In cancer, loss of G1 checkpoint control and activation of oncogenes that drive replication, result in cancer cells more likely t...
Source: Pharmacology and Therapeutics - Category: Drugs & Pharmacology Source Type: research
Publication date: 10 December 2019Source: Cell Reports, Volume 29, Issue 11Author(s): Rekha Rai, Peili Gu, Cayla Broton, Chandan Kumar-Sinha, Yong Chen, Sandy ChangSummaryTelomeres use shelterin to protect chromosome ends from activating the DNA damage sensor MRE11-RAD50-NBS1 (MRN), repressing ataxia-telangiectasia, mutated (ATM) and ATM and Rad3-related (ATR) dependent DNA damage checkpoint responses. The MRE11 nuclease is thought to be essential for the resection of the 5′ C-strand to generate the microhomologies necessary for alternative non-homologous end joining (A-NHEJ) repair. In the present study, we uncover ...
Source: Cell Reports - Category: Cytology Source Type: research
M, Cansu A Abstract Aim: Our aim was to perform the Turkish-language adaptation of a practical ataxia rating scale for children.Methods: The Brief Ataxia Rating Scale was subjected to cultural adaptation following receipt of the requisite permissions. Thirty-six children aged 4-18 years followed-up with a diagnosis of ataxia were included in the study. Evaluation of each child was recorded on video. The video recordings were scored independently by nine observers (four physiotherapists, one pediatric neurologist, and four pediatricians). Intra-rater reliability was tested by the same video images being sco...
Source: Disability and Rehabilitation - Category: Rehabilitation Authors: Tags: Disabil Rehabil Source Type: research
In conclusion, clinical characteristics of vitamin B12 deficiency are broad and nonspecific and may not be associated with anemia and increased mean corpuscular volume. Since different clinical characteristics can be seen without anemia, awareness and cautious approach are essential in order to avoid severe clinical disease, especially in children from underdeveloped countries. PMID: 31819326 [PubMed - in process]
Source: Acta Clinica Croatica - Category: General Medicine Tags: Acta Clin Croat Source Type: research
Conclusions mGluR2-Abs are a novel biomarker of paraneoplastic cerebellar ataxia. The potential pathogenic effect of the antibodies is not mediated by downregulation or internalization of neuronal surface mGluR2.
Source: Neurology Neuroimmunology and Neuroinflammation - Category: Neurology Authors: Tags: Diagnostic test assessment, Autoimmune diseases, Clinical neurology examination, Gait disorders/ataxia, Paraneoplastic syndrome Article Source Type: research
Dementia comprises several neurodegenerative disorders with similar neuropsychiatric features and Alzheimer’s disease (AD) is the most common of them. Genetic factors are strongly implicated into its etiology especially for early-onset cases (EOAD) occuring before the age of 65. About 10% of these are inherited in autosomal dominant fashion via pathogenic polymorphisms in three genes— APP, PSEN-1, and PSEN-2. Despite genotypic clarity, however, phenotypic variability exists with different symptom constellations observed in patients with identical mutations. Below, we present a case of a 39-year-old male with a ...
Source: Frontiers in Psychiatry - Category: Psychiatry Source Type: research
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