Read by QxMD icon Read

fires syndrome

Jacob Sturdy, Johnny T Ottesen, Mette S Olufsen
The baroreceptor neurons serve as the primary transducers of blood pressure for the autonomic nervous system and are thus critical in enabling the body to respond effectively to changes in blood pressure. These neurons can be separated into two types (A and C) based on the myelination of their axons and their distinct firing patterns elicited in response to specific pressure stimuli. This study has developed a comprehensive model of the afferent baroreceptor discharge built on physiological knowledge of arterial wall mechanics, firing rate responses to controlled pressure stimuli, and ion channel dynamics within the baroreceptor neurons...
October 5, 2016: Journal of Computational Neuroscience
Daniel Radzicki, Erdong Liu, Han-Xiang Deng, Teepu Siddique, Marco Martina
Frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) are believed to represent the different outcomes of a common pathogenic mechanism. However, while researchers have intensely studied the involvement of motor neurons in the ALS/FTD syndrome, very little is known about the function of hippocampal neurons, although this area is critical for memory and other cognitive functions. We investigated the electrophysiological properties of CA1 pyramidal cells in slices from 1 month-old UBQLN2(P497H) mice, a recently generated model of ALS/FTD that shows heavy depositions of ubiquilin2-positive aggregates in this brain region...
2016: Frontiers in Cellular Neuroscience
Soledad Pitra, Yumei Feng, Javier E Stern
BACKGROUND: Hypertension and obesity are highly interrelated diseases, being critical components of the metabolic syndrome. Despite the growing prevalence of this syndrome in the world population, efficient therapies are still missing. Thus, identification of novel targets and therapies are warranted. An enhanced activity of the hypothalamic renin-angiotensin system (RAS), including the recently discovered prorenin (PR) and its receptor (PRR), has been implicated as a common mechanism underlying aberrant sympatho-humoral activation that contributes to both metabolic and cardiovascular dysregulation in the metabolic syndrome...
October 2016: Molecular Metabolism
Max F Oginsky, Ningren Cui, Weiwei Zhong, Christopher M Johnson, Chun Jiang
People with Rett syndrome (RTT) have defects in motor function also seen in Mecp2-null mice. Motor function depends on not only central motor commands but also sensory feedback that is vulnerable to changes in excitability of propriosensory neurons. Here we report evidence for hyperexcitability of mesencephalic trigeminal (Me5) neurons in Mecp2-null mice and a novel cellular mechanism for lowering its impact. In in-vitro brain slices, the Me5 neurons in both Mecp2(-/Y) male and symptomatic Mecp2(+/-) female mice were overly excitable showing increased firing activity in comparison to their wild-type (WT) male and asymptomatic counterparts...
September 27, 2016: Journal of Cellular Physiology
Anthony Heagerty
There is now a considerable body of evidence to suggest that the fat cells that surround blood vessels (perivascular adipose tissue, PVAT) can influence profoundly arterial tone by releasing vasodilator adipokines which can act locally in a paracrine fashion. In healthy lean individuals the primary vasodilator released appears to be adiponectin and there is a complex interation between autonomic nerve firing in PVAT and the release of nitric oxide from adipocytes and an increased bioavailability of adiponectin...
September 2016: Journal of Hypertension
M Fetter
Sudden unilateral loss of vestibular function is the most severe condition that can occur in the vestibular system. The clinical syndrome is caused by the physiologic properties of the vestibulo-ocular reflex (VOR) arc. In the normal situation, the two peripheral vestibular end organs are connected to a functional unit in coplanar pairs of semicircular canals working in a push-pull mode. "Push-pull" mode means that, when one side is excited, the other side is inhibited, and vice versa due to two mechanisms...
2016: Handbook of Clinical Neurology
Andreas M Kist, Dagrun Sagafos, Anthony M Rush, Cristian Neacsu, Esther Eberhardt, Roland Schmidt, Lars Kristian Lunden, Kristin Ørstavik, Luisa Kaluza, Jannis Meents, Zhiping Zhang, Thomas Hedley Carr, Hugh Salter, David Malinowsky, Patrik Wollberg, Johannes Krupp, Inge Petter Kleggetveit, Martin Schmelz, Ellen Jørum, Angelika Lampert, Barbara Namer
Gain-of-function mutations in the tetrodotoxin (TTX) sensitive voltage-gated sodium channel (Nav) Nav1.7 have been identified as a key mechanism underlying chronic pain in inherited erythromelalgia. Mutations in TTX resistant channels, such as Nav1.8 or Nav1.9, were recently connected with inherited chronic pain syndromes. Here, we investigated the effects of the p.M650K mutation in Nav1.8 in a 53 year old patient with erythromelalgia by microneurography and patch-clamp techniques. Recordings of the patient's peripheral nerve fibers showed increased activity dependent slowing (ADS) in CMi and less spontaneous firing compared to a control group of erythromelalgia patients without Nav mutations...
2016: PloS One
C Barbosa, T R Cummins
Pain is a serious health problem that impacts the lives of many individuals. Hyperexcitability of peripheral sensory neurons contributes to both acute and chronic pain syndromes. Because voltage-gated sodium currents are crucial to the transmission of electrical signals in peripheral sensory neurons, the channels that underlie these currents are attractive targets for pain therapeutics. Sodium currents and channels in peripheral sensory neurons are complex. Multiple-channel isoforms contribute to the macroscopic currents in nociceptive sensory neurons...
2016: Current Topics in Membranes
Olga Dergacheva, Akihiro Yamanaka, Alan R Schwartz, Vsevolod Y Polotsky, David Mendelowitz
Evidence of impaired function of orexin neurons has been found in individuals with cardiorespiratory disorders such as obstructive sleep apnea (OSA) and sudden infant death syndrome (SIDS), but the mechanisms responsible are unknown. Individuals with OSA and SIDS experience repetitive breathing cessations and/or rebreathing of expired air, resulting in hypoxia/hypercapnia (H/H). In this study we examined the responses of fluorescently identified rat orexin neurons in the lateral hypothalamus to acute H/H to test if and how these neurons alter their activity and function during this challenge...
August 24, 2016: Journal of Neurophysiology
M Saitoh, K Kobayashi, I Ohmori, Y Tanaka, K Tanaka, T Inoue, A Horino, K Ohmura, A Kumakura, Y Takei, S Hirabayashi, M Kajimoto, T Uchida, S Yamazaki, T Shiihara, T Kumagai, M Kasai, H Terashima, M Kubota, M Mizuguchi
Febrile infection-related epilepsy syndrome (FIRES), or acute encephalitis with refractory, repetitive partial seizures (AERRPS), is an epileptic encephalopathy beginning with fever-mediated seizures. The etiology remains unclear. To elucidate the genetic background of FIRES/AERRPS (hereafter FIRES), we recruited 19 Japanese patients, genotyped polymorphisms of the IL1B, IL6, IL10, TNFA, IL1RN, SCN1A and SCN2A genes, and compared their frequency between the patients and controls. For IL1RN, the frequency of a variable number of tandem repeat (VNTR) allele, RN2, was significantly higher in the patients than in controls (p=0...
September 15, 2016: Journal of the Neurological Sciences
Hui Lu, Ryan T Ash, Lingjie He, Sara E Kee, Wei Wang, Dinghui Yu, Shuang Hao, Xiangling Meng, Kerstin Ure, Aya Ito-Ishida, Bin Tang, Yaling Sun, Daoyun Ji, Jianrong Tang, Benjamin R Arenkiel, Stelios M Smirnakis, Huda Y Zoghbi
Loss- and gain-of-function mutations in methyl-CpG-binding protein 2 (MECP2) underlie two distinct neurological syndromes with strikingly similar features, but the synaptic and circuit-level changes mediating these shared features are undefined. Here we report three novel signs of neural circuit dysfunction in three mouse models of MECP2 disorders (constitutive Mecp2 null, mosaic Mecp2(+/-), and MECP2 duplication): abnormally elevated synchrony in the firing activity of hippocampal CA1 pyramidal neurons, an impaired homeostatic response to perturbations of excitatory-inhibitory balance, and decreased excitatory synaptic response in inhibitory neurons...
August 17, 2016: Neuron
Julia Berzhanskaya, Marnie A Phillips, Jing Shen, Matthew T Colonnese
Fragile X syndrome (FXS) is characterized by sensory hyper-sensitivity, and animal models suggest that neuronal hyper-excitability contributes to this phenotype. To understand how sensory dysfunction develops in FXS, we used the rat model (FMR-KO) to quantify the maturation of cortical visual responses from the onset of responsiveness prior to eye-opening, through age equivalents of human juveniles. Rather than hyper-excitability, visual responses before eye-opening had reduced spike rates and an absence of early gamma oscillations, a marker for normal thalamic function at this age...
2016: Scientific Reports
Yishan Sun, Sergiu P Paşca, Thomas Portmann, Carleton Goold, Kathleen A Worringer, Wendy Guan, Karen C Chan, Hui Gai, Daniel Vogt, Ying-Jiun J Chen, Rong Mao, Karrie Chan, John Lr Rubenstein, Daniel V Madison, Joachim Hallmayer, Wendy M Froehlich-Santino, Jonathan A Bernstein, Ricardo E Dolmetsch
Dravet Syndrome is an intractable form of childhood epilepsy associated with deleterious mutations in SCN1A, the gene encoding neuronal sodium channel Nav1.1. Earlier studies using human induced pluripotent stem cells (iPSCs) have produced mixed results regarding the importance of Nav1.1 in human inhibitory versus excitatory neurons. We studied a Nav1.1 mutation (p.S1328P) identified in a pair of twins with Dravet Syndrome and generated iPSC-derived neurons from these patients. Characterization of the mutant channel revealed a decrease in current amplitude and hypersensitivity to steady-state inactivation...
2016: ELife
Prithviraj Doddamane Revanappa, Satyam Gaur, Rachana Srivastava, Abhishekha Patil, Shruthi Doddamane Prithviraj
Ectodermal Dysplasia Syndrome (EDS) is mainly X-linked inherited disorder with male predominance. According to Lyon hypothesis, female patients may show partial expression of EDS. Oral findings include hypodontia, rarely anodontia, protuberant lips, hyposalivation, conical teeth and loss of vertical dimension. The alveolar process fails to develop in the three dimensions. Such patients present a challenge to dental treatment due to an irregular residual ridge. This case report presents oral, functional and aesthetic rehabilitation of a 21-year-old female diagnosed with EDS using implants in the anterior maxilla at the sites of the canines bilaterally...
May 2016: Journal of Clinical and Diagnostic Research: JCDR
Alicia Mirás Veiga, David Conejo Moreno, Ana Isabel Gómez Menéndez, Ignacio Muñoz Siscart, Marta Del Olmo Fernández, Esteban Gómez Sánchez, María García González, Fernando Gómez Sáez
Febrile infection-related epilepsy syndrome (FIRES) is a rare condition which evolves into refractory status epilepticus (SE), with poor outcome in most cases. Conventional antiepileptic drugs fail to control SE in FIRES patients. We report the case of a previously healthy 4-year-old boy who was diagnosed with FIRES. One week after pharyngitis and high fever he started seizures, followed by refractory SE. Benzodiazepines, phenytoin, high-dose barbiturates that induce burst suppression, high doses of corticosteroids, plasmapheresis, immunoglobulins, propofol, lidocaine, ketamine, inhaled desflurane, ketogenic diet, lacosamide, and therapeutic hypothermia were tried at different times in a period of 8 weeks, but all of them were ineffective...
July 19, 2016: Neuropediatrics
Yang Yang, Jianying Huang, Malgorzata A Mis, Mark Estacion, Lawrence Macala, Palak Shah, Betsy R Schulman, Daniel B Horton, Sulayman D Dib-Hajj, Stephen G Waxman
UNLABELLED: Voltage-gated sodium channel Nav1.7 is a central player in human pain. Mutations in Nav1.7 produce several pain syndromes, including inherited erythromelalgia (IEM), a disorder in which gain-of-function mutations render dorsal root ganglia (DRG) neurons hyperexcitable. Although patients with IEM suffer from episodes of intense burning pain triggered by warmth, the effects of increased temperature on DRG neurons expressing mutant Nav1.7 channels have not been well documented...
July 13, 2016: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Nico Behnke, Jekaterina Breitkreuz, Cordula Buck, Marc Hinterthaner, Alexander Emmert
BACKGROUND: Fire-eater's pneumonia is an exogenous chemical pneumonitis after accidental aspiration of hydrocarbon fluids during the act of fire-eating. There have been few case reports in the literature regarding complications after fire-eating but so far none, to the best of our knowledge, have described such drastic and life-threatening pulmonary complications as in this case while only having swallowed a small amount of fluid. CASE PRESENTATION: We present a case of fire-eater's pneumonia in a 28-year-old white man with severe pulmonary complications...
2016: Journal of Medical Case Reports
Aimee L Fenwick, Maciej Kliszczak, Fay Cooper, Jennie Murray, Luis Sanchez-Pulido, Stephen R F Twigg, Anne Goriely, Simon J McGowan, Kerry A Miller, Indira B Taylor, Clare Logan, Sevcan Bozdogan, Sumita Danda, Joanne Dixon, Solaf M Elsayed, Ezzat Elsobky, Alice Gardham, Mariette J V Hoffer, Marije Koopmans, Donna M McDonald-McGinn, Gijs W E Santen, Ravi Savarirayan, Deepthi de Silva, Olivier Vanakker, Steven A Wall, Louise C Wilson, Ozge Ozalp Yuregir, Elaine H Zackai, Chris P Ponting, Andrew P Jackson, Andrew O M Wilkie, Wojciech Niedzwiedz, Louise S Bicknell
DNA replication precisely duplicates the genome to ensure stable inheritance of genetic information. Impaired licensing of origins of replication during the G1 phase of the cell cycle has been implicated in Meier-Gorlin syndrome (MGS), a disorder defined by the triad of short stature, microtia, and a/hypoplastic patellae. Biallelic partial loss-of-function mutations in multiple components of the pre-replication complex (preRC; ORC1, ORC4, ORC6, CDT1, or CDC6) as well as de novo stabilizing mutations in the licensing inhibitor, GMNN, cause MGS...
July 7, 2016: American Journal of Human Genetics
Marco Benevento, Giovanni Iacono, Martijn Selten, Wei Ba, Astrid Oudakker, Monica Frega, Jason Keller, Roberta Mancini, Elly Lewerissa, Tjitske Kleefstra, Henk G Stunnenberg, Huiqing Zhou, Hans van Bokhoven, Nael Nadif Kasri
Homeostatic plasticity, a form of synaptic plasticity, maintains the fine balance between overall excitation and inhibition in developing and mature neuronal networks. Although the synaptic mechanisms of homeostatic plasticity are well characterized, the associated transcriptional program remains poorly understood. We show that the Kleefstra-syndrome-associated protein EHMT1 plays a critical and cell-autonomous role in synaptic scaling by responding to attenuated neuronal firing or sensory drive. Chronic activity deprivation increased the amount of neuronal dimethylated H3 at lysine 9 (H3K9me2), the catalytic product of EHMT1 and an epigenetic marker for gene repression...
July 20, 2016: Neuron
Jonas Thelin, Pär Halje, Jacob Nielsen, Michael Didriksen, Per Petersson, Jesper F Bastlund
AIM: To date, the understanding and development of novel treatments for mental illness is hampered by inadequate animal models. For instance, it is unclear to what extent commonly used behavioural tests in animals can inform us on the mental and affective aspects of schizophrenia. METHODS: In order to link pathophysiological processes in an animal model to clinical findings, we have here utilized the recently developed Df(h15q13)/+ mouse model for detailed investigations of cortical neuronal engagement during pre-attentive processing of auditory information from two back-translational auditory paradigms...
July 1, 2016: Acta Physiologica
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"