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Autonomic dysfunction

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https://www.readbyqxmd.com/read/28235671/scn3a-deficiency-associated-with-increased-seizure-susceptibility
#1
Tyra Lamar, Carlos G Vanoye, Jeffrey Calhoun, Jennifer C Wong, Stacey B B Dutton, Benjamin S Jorge, Milen Velinov, Andrew Escayg, Jennifer A Kearney
Mutations in voltage-gated sodium channels expressed highly in the brain (SCN1A, SCN2A, SCN3A, and SCN8A) are responsible for an increasing number of epilepsy syndromes. In particular, mutations in the SCN3A gene, encoding the pore-forming Nav1.3 α subunit, have been identified in patients with focal epilepsy. Biophysical characterization of epilepsy-associated SCN3A variants suggests that both gain- and loss-of-function SCN3A mutations may lead to increased seizure susceptibility. In this report, we identified a novel SCN3A variant (L247P) by whole exome sequencing of a child with focal epilepsy, developmental delay, and autonomic nervous system dysfunction...
February 21, 2017: Neurobiology of Disease
https://www.readbyqxmd.com/read/28228721/patients-with-chronic-spinal-cord-injury-exhibit-reduced-autonomic-modulation-during-an-emotion-recognition-task
#2
Gonzalo Varas-Díaz, Enzo P Brunetti, Gonzalo Rivera-Lillo, Pedro E Maldonado
Spinal cord injury (SCI) is a devastating event for individuals, who frequently develop motor and sensory impairment as well as autonomic dysfunction. Previous studies reported that autonomic activity plays a major role in social cognition and that difficulties in the ability to interpret social information are commonly observed in a variety of mental disorders, which in turn correlate with a poor autonomic nervous system (ANS) regulation. It is well established that subjects with SCI have an alteration in ANS regulation mechanisms...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28225018/choline-ameliorates-cardiovascular-damage-by-improving-vagal-activity-and-inhibiting-the-inflammatory-response-in-spontaneously-hypertensive-rats
#3
Longzhu Liu, Yi Lu, Xueyuan Bi, Man Xu, Xiaojiang Yu, Runqing Xue, Xi He, Weijin Zang
Autonomic dysfunction and abnormal immunity lead to systemic inflammatory responses, which result in cardiovascular damage in hypertension. The aim of this report was to investigate the effects of choline on cardiovascular damage in hypertension. Eight-week-old male spontaneously hypertensive rats (SHRs) and Wistar-Kyoto rats were intraperitoneally injected with choline or vehicle (8 mg/kg/day). After 8 weeks, choline restored the cardiac function of the SHRs, as evidenced by decreased heart rate, systolic blood pressure, left ventricle systolic pressure, and ±dp/dtmax and increased ejection fraction and fractional shortening...
February 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28224045/dj-1-maintains-energy-and-glucose-homeostasis-by-regulating-the-function-of-brown-adipose-tissue
#4
Rong Wu, Xiao-Meng Liu, Jian-Guang Sun, Hong Chen, Jun Ma, Meng Dong, Shengyi Peng, Ji-Qiu Wang, Jian-Qing Ding, Dong-Hao Li, John R Speakman, Guang Ning, Wanzhu Jin, Zengqiang Yuan
DJ-1 protein is involved in multiple physiological processes, including Parkinson's disease. However, the role of DJ-1 in the metabolism is largely unknown. Here we found that DJ-1 maintained energy balance and glucose homeostasisvia regulating brown adipose tissue (BAT) activity. DJ-1-deficient mice reduced body mass, increased energy expenditure and improved insulin sensitivity. DJ-1 deletion also resisted high-fat-diet (HFD) induced obesity and insulin resistance. Accordingly, DJ-1 transgene triggered autonomous obesity and glucose intolerance...
2017: Cell Discovery
https://www.readbyqxmd.com/read/28214707/shortcuts-to-a-functional-adipose-tissue-the-role-of-small-non-coding-rnas
#5
REVIEW
Bruna B Brandão, Beatriz A Guerra, Marcelo A Mori
Metabolic diseases such as type 2 diabetes are a major public health issue worldwide. These diseases are often linked to a dysfunctional adipose tissue. Fat is a large, heterogenic, pleiotropic and rather complex tissue. It is found in virtually all cavities of the human body, shows unique plasticity among tissues, and harbors many cell types in addition to its main functional unit - the adipocyte. Adipose tissue function varies depending on the localization of the fat depot, the cell composition of the tissue and the energy status of the organism...
February 7, 2017: Redox Biology
https://www.readbyqxmd.com/read/28213205/sensory-trigeminal-ulf-tens-stimulation-reduces-hrv-response-to-experimentally-induced-arithmetic-stress-a-randomized-clinical-trial
#6
Annalisa Monaco, Ruggero Cattaneo, Eleonora Ortu, Marian Vladimir Constantinescu, Davide Pietropaoli
Ultra Low Frequency Transcutaneous Electric Nervous Stimulation (ULF-TENS) is extensively used for pain relief and for the diagnosis and treatment of temporomandibular disorders (TMD). In addition to its local effects, ULF-TENS acts on the autonomic nervous system (ANS), with particular reference to the periaqueductal gray (PAG), promoting the release of endogenous opioids and modulating descending pain systems. It has been suggested that the PAG participates in the coupling between the emotional stimulus and the appropriate behavioral autonomic response...
February 14, 2017: Physiology & Behavior
https://www.readbyqxmd.com/read/28213160/molecular-pathogenesis-of-peripheral-neuropathies-insights-from-drosophila-models
#7
REVIEW
Julia Bussmann, Erik Storkebaum
Peripheral neuropathies are characterized by degeneration of peripheral motor, sensory and/or autonomic axons, leading to progressive distal muscle weakness, sensory deficits and/or autonomic dysfunction. Acquired peripheral neuropathies, e.g., as a side effect of chemotherapy, are distinguished from inherited peripheral neuropathies (IPNs). Drosophila models for chemotherapy-induced peripheral neuropathy and several IPNs have provided novel insight into the molecular mechanisms underlying axonal degeneration...
February 14, 2017: Current Opinion in Genetics & Development
https://www.readbyqxmd.com/read/28212620/clinical-manifestations-of-severe-enterovirus-71-infection-and-early-assessment-in-a-southern-china-population
#8
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/28212120/neurogenic-voiding-dysfunction
#9
Petros Georgopoulos, Apostolos Apostolidis
PURPOSE OF REVIEW: This review aims to analyze and discuss all recently published articles associated with neurogenic voiding discussion providing readers with the most updated knowledge and trigger for further research. RECENT FINDINGS: They include the proposal of a novel classification system for the pathophysiology of neurogenic lower urinary tract dysfunction (NLUTD) which combines neurological defect in a distinct anatomic location, and data on bowel dysfunction, autonomic dysreflexia and urine biomarkers; review of patient-reported outcome measures in NLUTD; review of the criteria for the diagnosis of clinically significant urinary infections; novel research findings on the pathophysiology of NLUTD; and review of data on minimally and more invasive treatments...
February 16, 2017: Current Opinion in Urology
https://www.readbyqxmd.com/read/28209736/pejvakin-a-candidate-stereociliary-rootlet-protein-regulates-hair-cell-function-in-a-cell-autonomous-manner
#10
Marcin Kazmierczak, Piotr Kazmierczak, Anthony W Peng, Suzan L Harris, Prahar Shah, Jean-Luc Puel, Marc Lenoir, Santos J Franco, Martin Schwander
Mutations in the Pejvakin (PJVK) gene are thought to cause auditory neuropathy and hearing loss of cochlear origin by affecting noise-induced peroxisome proliferation in auditory hair cells and neurons. Here we demonstrate that loss of pejvakin in hair cells, but not in neurons, causes profound hearing loss and outer hair cell degeneration in mice. Pejvakin binds to and co-localizes with the rootlet component TRIOBP at the base of stereocilia in injectoporated hair cells, a pattern that is disrupted by deafness-associated PJVK mutations...
February 16, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
https://www.readbyqxmd.com/read/28208601/surgical-neurostimulation-for-spinal-cord-injury
#11
REVIEW
Aswin Chari, Ian D Hentall, Marios C Papadopoulos, Erlick A C Pereira
Traumatic spinal cord injury (SCI) is a devastating neurological condition characterized by a constellation of symptoms including paralysis, paraesthesia, pain, cardiovascular, bladder, bowel and sexual dysfunction. Current treatment for SCI involves acute resuscitation, aggressive rehabilitation and symptomatic treatment for complications. Despite the progress in scientific understanding, regenerative therapies are lacking. In this review, we outline the current state and future potential of invasive and non-invasive neuromodulation strategies including deep brain stimulation (DBS), spinal cord stimulation (SCS), motor cortex stimulation (MCS), transcutaneous direct current stimulation (tDCS) and repetitive transcranial magnetic stimulation (rTMS) in the context of SCI...
February 10, 2017: Brain Sciences
https://www.readbyqxmd.com/read/28202889/treatment-of-transthyretin-familial-amyloid-polyneuropathy-with-tafamidis-a-case-report
#12
Yoshimichi Miyazaki
INTRODUCTION: Familial amyloid polyneuropathy (FAP) is a rare hereditary disorder caused by mutations in the transthyretin (TTR) gene. Tafamidis is a TTR stabilizer able to prevent TTR tetramer dissociation, and several studies have demonstrated its safety and efficacy at slowing the progression of neuropathy in FAP caused by the TTR Val30Met mutation. However, nerve conduction study (NCS) and electromyography (EMG) results have yet to be reported in relation to FAP progression during tafamidis therapy...
2017: Nihon Ronen Igakkai Zasshi. Japanese Journal of Geriatrics
https://www.readbyqxmd.com/read/28202694/pure-autonomic-failure-predictors-of-conversion-to-clinical-cns-involvement
#13
Wolfgang Singer, Sarah E Berini, Paola Sandroni, Robert D Fealey, Elizabeth A Coon, Mariana D Suarez, Eduardo E Benarroch, Phillip A Low
OBJECTIVE: Based on the observation that a subset of patients originally diagnosed with pure autonomic failure (PAF) eventually develops extrapyramidal or cerebellar involvement consistent with multiple system atrophy (MSA), Parkinson disease (PD), or dementia with Lewy bodies (DLB), we aimed to identify predictors of progression of PAF to more sinister synucleinopathies. METHODS: In this retrospective cohort study, we reviewed patients seen at Mayo Clinic Rochester by autonomic specialists between 2001 and 2011 and during initial evaluation diagnosed with orthostatic hypotension consistent with PAF (possible PAF)...
February 15, 2017: Neurology
https://www.readbyqxmd.com/read/28202427/the-insula-lobe-and-sudden-unexpected-death-in-epilepsy-a-hypothesis
#14
Jia Li, Qianwen Ming, Weihong Lin
Sudden unexpected death in epilepsy (SUDEP) is a major cause of death in patients with refractory epilepsy, particularly those with chronic epilepsy. The physiopathological mechanisms underlying SUDEP have not been elucidated. Autonomic dysregulation of cardiac or respiratory function is thought to underlie SUDEP. Here, we present a summary of available evidence on the involvement of the insular lobe in the regulation of cardiorespiratory function. Ictal discharge that originates in the cortex can, primarily or secondarily, involve the insula lobe through epileptogenic signal networks, leading to cardiorespiratory dysfunction, central apnoea, arrhythmias, and sudden death in patients with epilepsy...
February 15, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28198018/inflammation-and-cardiovascular-autonomic-dysfunction-in-rheumatoid-arthritis-a-bidirectional-pathway-leading-to-cardiovascular-disease
#15
Tiago Peçanha, Aluísio Henrique Rodrigues de Andrade Lima
No abstract text is available yet for this article.
February 15, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28197102/right-cervical-vagotomy-aggravates-viral-myocarditis-in-mice-via-the-cholinergic-anti-inflammatory-pathway
#16
Ge Li-Sha, Chen Xing-Xing, Wu Lian-Pin, Zhou De-Pu, Li Xiao-Wei, Lin Jia-Feng, Li Yue-Chun
The autonomic nervous system dysfunction with increased sympathetic activity and withdrawal of vagal activity may play an important role in the pathogenesis of viral myocarditis. The vagus nerve can modulate the immune response and control inflammation through a 'cholinergic anti-inflammatory pathway' dependent on the α7-nicotinic acetylcholine receptor (α7nAChR). Although the role of β-adrenergic stimulation on viral myocarditis has been investigated in our pervious studies, the direct effect of vagal tone in this setting has not been yet studied...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28193273/stub1-chip-mutations-cause-gordon-holmes-syndrome-as-part-of-a-widespread-multisystemic-neurodegeneration-evidence-from-four-novel-mutations
#17
Stefanie Nicole Hayer, Tine Deconinck, Benjamin Bender, Katrien Smets, Stephan Züchner, Selina Reich, Ludger Schöls, Rebecca Schüle, Peter De Jonghe, Jonathan Baets, Matthis Synofzik
BACKGROUND: CHIP, the protein encoded by STUB1, is a central component of cellular protein homeostasis and interacts with several key proteins involved in the pathogenesis of manifold neurodegenerative diseases. This gives rise to the hypothesis that mutations in STUB1 might cause a far more multisystemic neurodegenerative phenotype than the previously reported cerebellar ataxia syndrome. METHODS: Whole exome sequencing data-sets from n = 87 index subjects of two ataxia cohorts were screened for individuals with STUB1 mutations...
February 13, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28193238/transient-ikk2-activation-in-astrocytes-initiates-selective-non-cell-autonomous-neurodegeneration
#18
Michael Lattke, Stephanie N Reichel, Alexander Magnutzki, Alireza Abaei, Volker Rasche, Paul Walther, Dinis P Calado, Boris Ferger, Thomas Wirth, Bernd Baumann
BACKGROUND: Neuroinflammation is associated with a wide range of neurodegenerative disorders, however the specific contribution to individual disease pathogenesis and selective neuronal cell death is not well understood. Inflammatory cerebellar ataxias are neurodegenerative diseases occurring in various autoimmune/inflammatory conditions, e.g. paraneoplastic syndromes. However, how inflammatory insults can cause selective cerebellar neurodegeneration in the context of these diseases remains open, and appropriate animal models are lacking...
February 13, 2017: Molecular Neurodegeneration
https://www.readbyqxmd.com/read/28188684/atypical-pupillary-light-reflex-in-2-6-year-old-children-with-autism-spectrum-disorders
#19
Dinalankara M R Dinalankara, Judith H Miles, T Nicole Takahashi, Gang Yao
The purpose of this study was to investigate pupillary light reflex (PLR) in 2-6-years-old children with autism spectrum disorders (ASD). A total of 117 medication-free 2-6-year-old boys participated in this study. Sixty participants were diagnosed with ASD (the "ASD group") and the other 57 were in the control group of typical development (the "TD group"). A questionnaire was completed by the parent/guardian for assessing potential dysfunctions in the autonomic nervous system (ANS). The base pupil radius, PLR latency, and constriction time showed a significant age-related trend in both the ASD and TD groups...
February 11, 2017: Autism Research: Official Journal of the International Society for Autism Research
https://www.readbyqxmd.com/read/28187814/neurocardiology
#20
N D Osteraas, V H Lee
Neurocardiology refers to the interplay between the nervous system and the cardiovascular system. Stress-related cardiomyopathy exemplifies the brain-heart connection and occurs in several conditions with acute brain injury that share oversympathetic activation. The brain's influences on the heart can include elevated cardiac markers, arrhythmias, repolarization abnormalities on electrocardiogram, myocardial necrosis, and autonomic dysfunction. The neurogenic stunned myocardium in aneurysmal subarachnoid hemorrhage represents one end of the spectrum, and is associated with an explosive rise in intracranial pressure that results in excess catecholamine state and possibly CBN...
2017: Handbook of Clinical Neurology
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