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https://www.readbyqxmd.com/read/30114719/htra2-defect-a-recognizable-inborn-error-of-metabolism-with-3-methylglutaconic-aciduria-as-discriminating-feature-characterized-by-neonatal-movement-disorder-and-epilepsy-report-of-11-patients
#1
Reka Kovacs-Nagy, Gilles Morin, Maria Al Nouri, Oliver Brandau, Nebal Waill Saadi, Mohammed A Nouri, Florence van den Broek, Holger Prokisch, Johannes A Mayr, Saskia B Wortmann
Neonatal-onset movement disorders, especially in combination with seizures, are rare and often related to mitochondrial disorders. 3-methylglutaconic aciduria (3-MGA-uria) is a marker for mitochondrial dysfunction. In particular, consistently elevated urinary excretion of 3-methylglutaconic acid is the hallmark of a small but growing group of inborn errors of metabolism (IEM) due to defective phospholipid remodeling or mitochondrial membrane-associated disorders (mutations in TAZ , SERAC1 , OPA3 , CLPB , DNAJC19 , TMEM70 , TIMM50 )...
August 16, 2018: Neuropediatrics
https://www.readbyqxmd.com/read/30114698/the-role-of-acute-octreotide-suppression-test-in-detecting-patients-with-neuroendocrine-neoplasms
#2
Ivan Kruljac, Ivan Vičić, Kristina Blaslov, Zorica Kolak, Martina Benkovic, Davor Kust, Blaženka Ladika Davidović, Gordan Tometic, Ivan Penavić, Nina Dabelić, Ljubica Vazdar, Tajana Pavic, Milan Vrkljan
Serum chromogranin A (CgA) is routinely used as a biomarker in patients with neuroendocrine neoplasms (NENs). Several conditions and comorbidities may be associated with falsely elevated CgA, often leading to extensive diagnostic evaluation, which may be costly and harmful. The aim of this study was to analyze the effectiveness of acute octreotide suppression test (AOST) in differentiating falsely elevated serum CgA. <br><br>Methods: Our prospective study enrolled 45 patients from two different patient cohorts: 1) 29 patients with suspicion or presence of NEN (extensive work-up and subsequent biopsy confirmed 16 NENs); 2) 16 consecutive patients admitted via emergency department without NEN (nonNENs)...
August 16, 2018: Neuroendocrinology
https://www.readbyqxmd.com/read/30114691/evidence-of-decreased-activity-in-intermediate-conductance-calcium-activated-potassium-channels-during-retinoic-acid-induced-differentiation-in-motor-neuron-like-nsc-34-cells
#3
Pei-Chun Chen, Jing-Syuna Ruan, Sheng-Nan Wu
BACKGROUND/AIMS: Intermediate-conductance Ca2+-activated K+ (IKCa; KCa3.1 or KCNN4) channels affect the behaviors of central neurons including motor neurons. The mechanism through which neuronal differentiation is related to the activity of these channels remains largely unclear. METHODS: By using various molecular biology tools and electrophysiological measurements, we investigated possible changes in the activity of IKCa channels in a retinoic acid (RA)-induced differentiation process in motor neuron-like NSC-34 cells...
August 16, 2018: Cellular Physiology and Biochemistry
https://www.readbyqxmd.com/read/30114675/impact-of-poorly-controlled-epilepsy-in-the-republic-of-guinea
#4
Minyoung Jang, Foksouna Sakadi, Nana R Tassiou, Cissé F Abass, Sara J Grundy, Arcer Woga, Bah A Kenda, Condé M Lamine, Balde A Talibé, Hongxiang Qiu, Joseph M Cohen, Marco Carone, Farrah J Mateen
PURPOSE: To characterize people with epilepsy (PWE) presenting to a free neurology consultation and antiepileptic drug (AED) service in the Republic of Guinea. METHODS: Guinea is a low-income country in West Africa that recently experienced an Ebola Virus Disease epidemic. Community-dwelling PWE were seen at a public referral hospital in Conakry, the capital city. During two visits in 2017, an African-U.S. team performed structured interviews and electroencephalograms and provided AEDs...
July 24, 2018: Seizure: the Journal of the British Epilepsy Association
https://www.readbyqxmd.com/read/30114663/fasciculation-intensity-and-disease-progression-in-amyotrophic-lateral-sclerosis
#5
Jun Tsugawa, Thanuja Dharmadasa, Yan Ma, William Huynh, Steve Vucic, Matthew C Kiernan
OBJECTIVE: To investigate the association between the frequency and intensity of fasciculations with clinical measures of disease progression in amyotrophic lateral sclerosis (ALS). METHODS: Twenty-four consecutive patients with ALS underwent clinical review and neuromuscular ultrasound assessment to detect intensity of fasciculations. Results were correlated with clinical markers of disease severity, as measured by the ALS Functional Rating Scale-revised (ALSFRS-R) and rate of disease progression (ΔFS), in addition to assessment of cortical motor function...
August 2, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/30114662/strength-and-stability-of-eeg-functional-connectivity-predict-treatment-response-in-infants-with-epileptic-spasms
#6
Daniel W Shrey, Olivia Kim McManus, Rajsekar Rajaraman, Hernando Ombao, Shaun A Hussain, Beth A Lopour
OBJECTIVE: Epileptic spasms (ES) are associated with pathological neuronal networks, which may underlie characteristic EEG patterns such as hypsarrhythmia. Here we evaluate EEG functional connectivity as a quantitative marker of treatment response, in comparison to classic visual EEG features. METHODS: We retrospectively identified 21 ES patients and 21 healthy controls. EEG data recorded before treatment and after ≥10 days of treatment underwent blinded visual assessment, and functional connectivity was measured using cross-correlation techniques...
August 4, 2018: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/30114659/titanium-dioxide-nanoparticles-induce-mouse-hippocampal-neuron-apoptosis-via-oxidative-stress-and-calcium-imbalance-mediated-endoplasmic-reticulum-stress
#7
Qiong He, Xuejiao Zhou, Yang Liu, Wenfeng Gou, Jiahui Cui, Zengqiang Li, Yingliang Wu, Daiying Zuo
The purpose of this study was to explore the potential neurotoxicity and the underlying mechanism of titanium dioxide nanoparticles (TiO2 -NPs) to mouse hippocampal neuron HT22 cells. We found that TiO2 -NPs had concentration-dependent and time-dependent cytotoxicities to HT22 cells by the MTT assay. Propidium iodide (PI) staining with FACScan flow cytometry proved that TiO2 -NPs dose-dependently increased the apoptosis rate in HT22 cells, and the apoptotic features were observed by Hochest 33258 and AO/EB staining...
August 10, 2018: Environmental Toxicology and Pharmacology
https://www.readbyqxmd.com/read/30114658/pharmacogenetic-analyses-of-2183-patients-with-advanced-colorectal-cancer-potential-role-for-common-dihydropyrimidine-dehydrogenase-variants-in-toxicity-to-chemotherapy
#8
Ayman Madi, David Fisher, Timothy S Maughan, James P Colley, Angela M Meade, Julie Maynard, Vikki Humphreys, Harpreet Wasan, Richard A Adams, Shelley Idziaszczyk, Rebecca Harris, Richard S Kaplan, Jeremy P Cheadle
BACKGROUND: Inherited genetic variants may influence response to, and side-effects from, chemotherapy. We sought to generate a comprehensive inherited pharmacogenetic profile for oxaliplatin and 5FU/capecitabine therapy in advanced colorectal cancer (aCRC). METHODS: We analysed more than 200 potentially functional, common, inherited variants in genes within the 5FU, capecitabine, oxaliplatin and DNA repair pathways, together with four rare dihydropyrimidine dehydrogenase (DPYD) variants, in 2183 aCRC patients treated with oxaliplatin-fluoropyrimidine chemotherapy with, or without, cetuximab (from MRC COIN and COIN-B trials)...
August 13, 2018: European Journal of Cancer
https://www.readbyqxmd.com/read/30114640/inhibiting-of-ripk3-attenuates-early-brain-injury-following-subarachnoid-hemorrhage-possibly-through-alleviating-necroptosis
#9
Ting Chen, Haizhou Pan, Jianru Li, Hangzhe Xu, Hanghuang Jin, Cong Qian, Feng Yan, Jingyin Chen, Chun Wang, Jingsen Chen, Lin Wang, Gao Chen
Necroptosis is an inflammatory form of cell death that depends on receptor-interacting serine-threonine kinase 3 (RIPK3) and mixed lineage kinase domain-like (MLKL) and displays the morphological characteristics of necrosis. To date, it is unclear to what extent necroptosis contributes to subarachnoid hemorrhage (SAH) induced brain injury. The present study aimed to investigate the RIPK3-mediated necroptosis and the effects of the RIPK3 selective inhibitor GSK'872 in early brain injury following SAH. After SAH, RIPK3 expression increased as early as 6 h and peaked at 72 h...
August 13, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/30114637/safety-evaluation-anti-oxidative-and-anti-inflammatory-effects-of-subchronically-dietary-supplemented-high-dosing-grape-seed-powder-gsp-to-healthy-rat
#10
Kamel Charradi, Mohamed Mahmoudi, Takwa Bedhiafi, Khawla Jebari, Michèle Veronique El May, Ferid Limam, Ezzedine Aouani
Grape seed powder (GSP) contains high amount of bioactive polyphenols usually used as nutritional supplement or food preservatives due to their antioxidant and scavenging properties. The purpose of the present work was to evaluate the safety of increasing dosage GSP (w/w) of 0.5%, 5%, 10% and 20% corresponding to 0.4, 4, 8 and 16 g/kg bw respectively, when administered sub-chronically to Wistar rats in a 2 month-repeated dosing oral toxicity trial. Overally GSP had no effect on food intake, decreased body weight gain without affecting brain, liver, heart or kidney relative weight...
August 13, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/30114636/analgesic-effects-of-tlr4-nf-%C3%AE%C2%BAb-signaling-pathway-inhibition-on-chronic-neuropathic-pain-in-rats-following-chronic-constriction-injury-of-the-sciatic-nerve
#11
Longhe Xu, Yaobo Liu, Yuhui Sun, Hao Li, Weidong Mi, Yuge Jiang
OBJECTIVE: Chronic neuropathic pain (CNP) is attributed to a lesion or disease of the somatosensory system, may be derived from the peripheral and central system. Recent study revealed that spinal cord stimulation attenuated CNP by inhibiting TLR4/NF-κB signaling pathway. The present study focuses on the potential analgesic effects of TLR4/NF-κB signaling pathway on CNP in a rat model of chronic constriction injury (CCI). METHODS: We successfully established the rat model of CCI by Bennett method, and then inhibited the TLR4/NF-κB signaling pathway in rat models...
August 13, 2018: Biomedicine & Pharmacotherapy, Biomédecine & Pharmacothérapie
https://www.readbyqxmd.com/read/30114551/three-new-case-reports-of-arteriovenous-malformation-related-amyotrophic-lateral-sclerosis
#12
Maria Chondrogianni, Marianna Bregianni, Frantzeska Frantzeskaki, Evangelos Giamarellos-Bourboulis, Evangelos Anagnostou, Evangelia Kararizou, Georgia Karadima, George Koutsis, Christos Moschovos, Anastasios Bonakis, Leonidas Stefanis
Despite recent advances in genetics, in most cases of Amyotrophic Lateral Sclerosis (ALS) no etiological factor can be identified. Cerebral Arteriovenous Malformations (AVMs) have been associated with ALS development in a few studies, but the nature of this connection is unclear. We report here 3 additional cases of young adults, who had undergone repeated embolizations for complex AVMs, and who then developed, after many years, ALS symptoms and signs. In two of these cases Vascular Endothelial Growth Factor (VEGF) levels were found to be extremely high, in contrast to previous reports...
August 9, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/30114542/modified-posterior-short-segment-pedicle-screw-instrumentation-for-lumbar-burst-fractures-with-incomplete-neurological-deficit
#13
Sheng Yang, De-Peng Shang, Jian-Min Lu, Ji-Feng Liu, Da-Peng Fu, Fei Zhou, Yang Cong, Zhong-Zhe Lv
PURPOSE: This retrospective study was to introduce a method of modified posterior short-segment pedicle screw fixation and evaluate its clinical effects in treating lumbar burst fractures with incomplete neurological deficit. METHODS: Twenty two patients with lumbar burst fracture and incomplete neurological deficit who underwent modified posterior short-segment instrumentation with Schanz screws between Jan 2012 and Feb 2018 in our clinic were included in this retrospective study...
August 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/30114540/risk-for-pseudoarthrosis-after-spinal-fusion-analysis-from-the-healthcare-cost-and-utilization-project
#14
Ryan C Hofler, Kevin Swong, Brendan Martin, Michael Wemhoff, George Alexander Jones
BACKGROUND: Pseudoarthrosis following spinal fusion is an important cause of pain, neurologic decline, and reoperation. METHODS: The HCUP State Inpatient Databases were queried in New York, California, Florida, and Washington for adult patients who underwent new spinal fusion between 2009 and 2011. In accordance with the HCUP methods series and analysis guidelines, generalized linear mixed effects models were employed to estimate the odds of experiencing post-operative pseudoarthrosis as a function of multivariable patient characteristics, comorbidities, and surgical approach...
August 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/30114537/analysis-of-the-peripheral-nerve-schwannoma-pseudocapsule
#15
Jonathan J Stone, Jennifer M Boland, Robert J Spinner
INTRODUCTION: Using proper surgical technique, schwannomas can be resected safely, with a low recurrence rate and high likelihood of improvement in symptomatology. There are multiple peritumoral tissue layers and finding the correct plane is critical to safe tumor enucleation. The contents of the pseudocapsule tissue surrounding a schwannoma are not well described and the consequences of resecting or leaving pseudocapsule are unknown. METHODS: An institutional database was searched for any pathology reports that contained both of the words "schwannoma" and "capsule"...
August 13, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/30114481/sensorimotor-integration-in-healthy-aging-baseline-differences-and-response-to-sensory-training
#16
K E Brown, J L Neva, S J Feldman, W R Staines, L A Boyd
Sensorimotor integration is the process through which somatosensory information is incorporated to inform motor output. Given its important behavioural implications, understanding the influence of healthy aging on the underlying neurophysiology of sensorimotor integration and whether it is modifiable through intervention is important. The aims of the current work were to: 1) profile aging-related differences in sensorimotor integration, and 2) to determine if sensorimotor integration in older adults can be modulated in response to sensory training...
August 13, 2018: Experimental Gerontology
https://www.readbyqxmd.com/read/30114475/the-left-central-nucleus-of-the-amygdala-contributes-to-mechanical-allodynia-and-hyperalgesia-following-right-sided-peripheral-nerve-injury
#17
Andrew H Cooper, Jennifer J Brightwell, Naomi S Hedden, Bradley K Taylor
The left and right central nucleus of the amygdala (CeA) exert asymmetric pronociceptive functions. In the setting of a transient noxious stimulus or persistent inflammatory pain, neuronal activity increases in the right but not left CeA, regardless of side of injury. Much less is known regarding this lateralization with respect to the behavioral manifestations of persistent neuropathic pain. To address this question, we conducted spared nerve injury (SNI) to the left or right hindlimb and then inactivated the left and/or right CeA with local microinjection of lidocaine...
August 13, 2018: Neuroscience Letters
https://www.readbyqxmd.com/read/30114473/unhealthy-gut-unhealthy-brain-the-role-of-the-intestinal-microbiota-in-neurodegenerative-diseases
#18
REVIEW
Lindsay Joy Spielman, Deanna Lynn Gibson, Andis Klegeris
The number of bacterial cells living within the human body is approximately equal to, or greater than, the total number of human cells. This dynamic population of microorganisms, termed the human microbiota, resides mainly within the gastrointestinal tract. It is widely accepted that highly diverse and stable microbiota promote overall human health. Colonization of the gut with maladaptive and pathogenic microbiota, a state also known as dysbiosis, is associated with a variety of peripheral diseases ranging from type 2 diabetes mellitus to cardiovascular and inflammatory bowel disease...
August 13, 2018: Neurochemistry International
https://www.readbyqxmd.com/read/30114466/processing-of-auditory-novelty-across-the-cortical-hierarchy-an-intracranial-electrophysiology-study
#19
Kirill V Nourski, Mitchell Steinschneider, Ariane E Rhone, Hiroto Kawasaki, Matthew A Howard, Matthew I Banks
Under the predictive coding hypothesis, specific spatiotemporal patterns of cortical activation are postulated to occur during sensory processing as expectations generate feedback predictions and prediction errors generate feedforward signals. Establishing experimental evidence for this information flow within cortical hierarchy has been difficult, especially in humans, due to spatial and temporal limitations of non-invasive measures of cortical activity. This study investigated cortical responses to auditory novelty using the local/global deviant paradigm, which engages the hierarchical network underlying auditory predictive coding over short ('local deviance'; LD) and long ('global deviance'; GD) time scales...
August 13, 2018: NeuroImage
https://www.readbyqxmd.com/read/30114460/hallux-plantar-flexor-strength-in-people-with-diabetic-neuropathy-validation-of-a-simple-clinical-test
#20
Aoife Healy, Roozbeh Naemi, Lakshmi Sundar, Panagiotis Chatzistergos, Ambady Ramachandran, Nachiappan Chockalingam
AIM: To validate the paper grip test for assessing plantar flexion strength of the hallux. METHODS: Plantar flexor strength for 69 people with diabetic neuropathy was assessed: (a) using the paper grip test while simultaneously a plantar pressure platform quantified the force under the hallux, and (b) using a hand-held dynamometer. Following testing, participants were divided into groups: (1) passed vs. failed paper grip test (2) males vs. females. Statistical analyses determined if differences were evident between the groups and assessed the relationship between the paper grip test and the hand-held dynamometer...
August 13, 2018: Diabetes Research and Clinical Practice
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