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https://www.readbyqxmd.com/read/28506507/syndrome-surveillance-of-fentanyl-laced-heroin-outbreaks-utilization-of-ems-medical-examiner-and-poison-center-databases
#1
P Quincy Moore, Joseph Weber, Steven Cina, Steven Aks
OBJECTIVE: Describe surveillance data from three existing surveillance systems during an unexpected fentanyl outbreak in a large metropolitan area. METHODS: We performed a retrospective analysis of three data sets: Chicago Fire Department EMS, Cook County Medical Examiner, and Illinois Poison Center. Each included data from January 1, 2015 through December 31, 2015. EMS data included all EMS responses in Chicago, Illinois, for suspected opioid overdose in which naloxone was administered and EMS personnel documented other criteria indicative of opioid overdose...
May 8, 2017: American Journal of Emergency Medicine
https://www.readbyqxmd.com/read/28494849/identification-and-classification-of-traditional-chinese-medicine-syndrome-types-among-senior-patients-with-vascular-mild-cognitive-impairment-using-latent-tree-analysis
#2
Chen Fu, Nevin Lianwen Zhang, Bao-Xin Chen, Zhou Rong Chen, Xiang Lan Jin, Rong-Juan Guo, Zhi-Gang Chen, Yun-Ling Zhang
OBJECTIVE: To treat patients with vascular mild cognitive impairment (VMCI) using traditional Chinese medicine (TCM), it is necessary to classify the patients into TCM syndrome types and to apply different treatments to different types. In this paper, we investigate how to properly carry out the classification for patients with VMCI aged 50 or above using a novel data-driven method known as latent tree analysis (LTA). METHOD: A cross-sectional survey on VMCI was carried out in several regions in Northern China between February 2008 and February 2012 which resulted in a data set that involves 803 patients and 93 symptoms...
May 2017: Journal of Integrative Medicine
https://www.readbyqxmd.com/read/28490751/unexpected-efficacy-of-a-novel-sodium-channel-modulator-in-dravet-syndrome
#3
Lyndsey L Anderson, Nicole A Hawkins, Christopher H Thompson, Jennifer A Kearney, Alfred L George
Dravet syndrome, an epileptic encephalopathy affecting children, largely results from heterozygous loss-of-function mutations in the brain voltage-gated sodium channel gene SCN1A. Heterozygous Scn1a knockout (Scn1a (+/-)) mice recapitulate the severe epilepsy phenotype of Dravet syndrome and are an accepted animal model. Because clinical observations suggest conventional sodium channel blocking antiepileptic drugs may worsen the disease, we predicted the phenotype of Scn1a (+/-) mice would be exacerbated by GS967, a potent, unconventional sodium channel blocker...
May 10, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28490504/fasciculation-in-amyotrophic-lateral-sclerosis-origin-and-pathophysiological-relevance
#4
REVIEW
Mamede de Carvalho, Matthew C Kiernan, Michael Swash
This review considers the origin and significance of fasciculations in neurological practice, with an emphasis on fasciculations in amyotrophic lateral sclerosis (ALS), and in benign fasciculation syndromes. Fasciculation represents a brief spontaneous contraction that affects a small number of muscle fibres, causing a flicker of movement under the skin. While an understanding of the role of fasciculation in ALS remains incomplete, fasciculations derive from ectopic activity generated in the motor system. A proximal origin seems likely to contribute to the generation of fasciculation in the early stages of ALS, while distal sites of origin become more prominent later in the disease, associated with distal motor axonal sprouting as part of the reinnervation response that develops secondary to loss of motor neurons...
May 10, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28436815/moyamoya-in-a-patient-with-fires-a-first-case-report
#5
Taylor Kaufman, Andrew White
Febrile infection-related epilepsy syndrome (FIRES) is a form of epileptic encephalopathy with severe refractory epilepsy that presents in previously healthy, school-aged children after significant febrile illness with concomitant rise in body temperature. Suspected causes include genetic or acquired channelopathies, as well as mitochondrial disturbances. In FIRES, the EEG shows diffuse slowing, generalized, and/or multifocal discharges. Seizures are present and resistant to treatment. Moyamoya angiopathy (MMA) is characterized by progressive stenosis of cerebral arteries and subsequent development of a network of collateral circulation that is prone to rupture...
2017: Neurodiagnostic Journal
https://www.readbyqxmd.com/read/28436452/disrupted-neuronal-maturation-in-angelman-syndrome-derived-induced-pluripotent-stem-cells
#6
James J Fink, Tiwanna M Robinson, Noelle D Germain, Carissa L Sirois, Kaitlyn A Bolduc, Amanda J Ward, Frank Rigo, Stormy J Chamberlain, Eric S Levine
Angelman syndrome (AS) is a neurogenetic disorder caused by deletion of the maternally inherited UBE3A allele and is characterized by developmental delay, intellectual disability, ataxia, seizures and a happy affect. Here, we explored the underlying pathophysiology using induced pluripotent stem cell-derived neurons from AS patients and unaffected controls. AS-derived neurons showed impaired maturation of resting membrane potential and action potential firing, decreased synaptic activity and reduced synaptic plasticity...
April 24, 2017: Nature Communications
https://www.readbyqxmd.com/read/28427691/spastic-paretic-hemifacial-contracture-as-a-presenting-feature-of-multiple-sclerosis
#7
Georgios Koutsis, Marianthi Breza, Maria-Eleftheria Evangelopoulos, Maria Anagnostouli, Elisavet Andreadou, Georgios Karagiorgis, Panagiotis Kokotis, Costas Kilidireas, Nikolaos Karandreas
BACKGROUND: Spastic paretic hemifacial contracture (SPHC) is characterized by sustained unilateral contraction of the facial muscles associated with mild ipsilateral facial paresis. Rarely described in the context of multiple sclerosis (MS), it has never been reported as presenting symptom of MS. CASE REPORTS: Two patients developed SPHC within the context of a clinically isolated syndrome suggestive of MS. EMG revealed continuous resting activity of irregularly firing motor unit potentials, associated with impaired recruitment upon voluntary contraction...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28391347/therapeutics-for-apol1-nephropathies-putting-out-the-fire-in-the-podocyte
#8
Jurgen Heymann, Cheryl A Winkler, Maarten Hoek, Katalin Susztak, Jeffrey B Kopp
APOL1 nephropathies comprise a range of clinical and pathologic syndromes, which can be summarized as focal segmental glomerulosclerosis, in various guises, and arterionephrosclerosis, otherwise known as hypertensive kidney diseases. Current therapies for these conditions may achieve therapeutic targets, reduction in proteinuria and control of blood pressure, respectively, but often fail to halt the progressive decline in kidney function. It appears that current therapies fail to address certain underlying critical pathologic processes that are driven, particularly in podocytes and microvascular cells, by the APOL1 renal risk genetic variants...
January 1, 2017: Nephrology, Dialysis, Transplantation
https://www.readbyqxmd.com/read/28380320/reappraisal-of-the-f-m-amplitude-ratio-in-carpal-tunnel-syndrome
#9
F Ginanneschi, M Mondelli, A Aretini, Alessandro Rossi
The F-wave/M-wave amplitude (F/M-amp) ratio has been shown to be increased in peripheral neuropathies, provided the maximum M-wave is relatively preserved. Reduced M-wave amplitudes and central facilitation of antidromically-induced reactivation of the anterior horn cells' axon hillocks (F-wave) are believed to contribute to higher F/M-amp ratios. The present study was undertaken to re-evaluate mechanisms responsible for higher F/M-amp ratios in carpal tunnel syndrome (CTS). We enrolled 232 cases affected by CTS and 108 controls...
January 2017: Functional Neurology
https://www.readbyqxmd.com/read/28373025/early-life-febrile-seizures-worsen-adult-phenotypes-in-scn1a-mutants
#10
Stacey B B Dutton, Karoni Dutt, Ligia A Papale, Sandra Helmers, Alan L Goldin, Andrew Escayg
Mutations in the voltage-gated sodium channel (VGSC) gene SCN1A, encoding the Nav1.1 channel, are responsible for a number of epilepsy disorders including genetic epilepsy with febrile seizures plus (GEFS+) and Dravet syndrome (DS). Patients with SCN1A mutations often experience prolonged early-life febrile seizures (FSs), raising the possibility that these events may influence epileptogenesis and lead to more severe adult phenotypes. To test this hypothesis, we subjected 21-23-day-old mice expressing the human SCN1A GEFS+ mutation R1648H to prolonged hyperthermia, and then examined seizure and behavioral phenotypes during adulthood...
April 1, 2017: Experimental Neurology
https://www.readbyqxmd.com/read/28370141/increased-transient-na-conductance-and-action-potential-output-in-layer-2-3-prefrontal-cortex-neurons-of-the-fmr1-y-mouse
#11
Brandy N Routh, Rahul K Rathour, Michael E Baumgardner, Brian E Kalmbach, Daniel Johnston, Darrin H Brager
Fragile X syndrome is the most common form of inherited mental impairment and autism. The prefrontal cortex is responsible for higher order cognitive processing, and prefrontal dysfunction is believed to underlie many of the cognitive and behaviour phenotypes associated with Fragile X syndrome. We recently demonstrated that somatic and dendritic excitability of layer 5 pyramidal neurons in the prefrontal cortex of the fmr1-/y mouse is significantly altered due to changes in several voltage-gated ion channels...
March 31, 2017: Journal of Physiology
https://www.readbyqxmd.com/read/28366665/the-phe932ile-mutation-in-kcnt1-channels-associated-with-severe-epilepsy-delayed-myelination-and-leukoencephalopathy-produces-a-loss-of-function-channel-phenotype
#12
Katherine M Evely, Kerri D Pryce, Arin Bhattacharjee
Sodium-activated potassium (KNa) channels contribute to firing frequency adaptation and slow after hyperpolarization. The KCNT1 gene (also known as SLACK) encodes a KNa subunit that is expressed throughout the central and peripheral nervous systems. Missense mutations of the SLACK C-terminus have been reported in several patients with rare forms of early onset epilepsy and in some cases severely delayed myelination. To date, such mutations identified in patients with autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE), epilepsy of infancy with migrating focal seizures (EIMFS) and Ohtahara syndrome (OS) have been reported to be gain-of-function mutations (Villa and Combi, 2016)...
March 31, 2017: Neuroscience
https://www.readbyqxmd.com/read/28351037/impact-of-laser-power-and-firing-angle-on-coagulation-efficiency-in-laser-treatment-for-twin-twin-transfusion-syndrome-an-ex-vivo-placenta-study
#13
Joost Akkermans, Loes van der Donk, Suzanne H P Peeters, Sjoerd van Tuijl, Johanna M Middeldorp, Enrico Lopriore, Dick Oepkes
OBJECTIVE: To assess the impact of laser power and firing angle on coagulation efficiency for closing placental anastomoses in the treatment of twin-twin transfusion syndrome. METHODS: We used an ex vivo blood-perfused human placenta model to compare time to complete coagulation using 30 vs. 50 W of neodymium-doped yttrium aluminum garnet laser power and using a firing angle of 90° vs. 45°. Placentas were perfused with pig blood at 5 mL/min. Differences were analyzed using independent-samples t test, Mann-Whitney U test, or χ2 test as appropriate...
March 29, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28321191/palmitoylethanolamide-reduces-neuropsychiatric-behaviors-by-restoring-cortical-electrophysiological-activity-in-a-mouse-model-of-mild-traumatic-brain-injury
#14
Francesca Guida, Serena Boccella, Monica Iannotta, Danilo De Gregorio, Catia Giordano, Carmela Belardo, Rosaria Romano, Enza Palazzo, Maria A Scafuro, Nicola Serra, Vito de Novellis, Francesco Rossi, Sabatino Maione, Livio Luongo
Traumatic brain injury (TBI) represents a major public health problem, which is associated with neurological dysfunction. In severe or moderate cases of TBI, in addition to its high mortality rate, subjects may encounter diverse behavioral dysfunctions. Previous reports suggest that an association between TBI and chronic pain syndromes tends to be more common in patients with mild forms of brain injury. Despite causing minimal brain damage, mild TBI (mTBI) often leads to persistent psychologically debilitating symptoms, which can include anxiety, various forms of memory and learning deficits, and depression...
2017: Frontiers in Pharmacology
https://www.readbyqxmd.com/read/28265756/sodium-channel-biophysics-late-sodium-current-and-genetic-arrhythmic-syndromes
#15
REVIEW
Karan R Chadda, Kamalan Jeevaratnam, Ming Lei, Christopher L-H Huang
Arrhythmias arise from breakdown of orderly action potential (AP) activation, propagation and recovery driven by interactive opening and closing of successive voltage-gated ion channels, in which one or more Na(+) current components play critical parts. Early peak, Na(+) currents (I Na) reflecting channel activation drive the AP upstroke central to cellular activation and its propagation. Sustained late Na(+) currents (I Na-L) include contributions from a component with a delayed inactivation timecourse influencing AP duration (APD) and refractoriness, potentially causing pro-arrhythmic phenotypes...
March 6, 2017: Pflügers Archiv: European Journal of Physiology
https://www.readbyqxmd.com/read/28147271/serotonin-signaling-through-prefrontal-cortex-5-ht1a-receptors-during-adolescence-can-determine-baseline-mood-related-behaviors
#16
Alvaro L Garcia-Garcia, Qingyuan Meng, Sarah Canetta, Alain M Gardier, Bruno P Guiard, Christoph Kellendonk, Alex Dranovsky, E David Leonardo
Lifelong homeostatic setpoints for mood-related behaviors emerge during adolescence. Serotonin (5-HT) plays an important role in refining the formation of brain circuits during sensitive developmental periods. In rodents, the role of 5-HT1A receptors in general and autoreceptors in particular has been characterized in anxiety. However, less is known about the role of 5-HT1A receptors in depression-related behavior. Here, we show that whole-life suppression of heteroreceptor expression results in a broad depression-like behavioral phenotype accompanied by physiological and cellular changes within medial prefrontal cortex-dorsal raphe proper (mPFC-DRN) circuitry...
January 31, 2017: Cell Reports
https://www.readbyqxmd.com/read/28124118/expanding-our-understanding-of-leaf-functional-syndromes-in-savanna-systems-the-role-of-plant-growth-form
#17
Davi Rodrigo Rossatto, Augusto Cesar Franco
The assessment of leaf strategies has been a common theme in ecology, especially where multiple sources of environmental constraints (fire, seasonal drought, nutrient-poor soils) impose a strong selection pressure towards leaf functional diversity, leading to inevitable tradeoffs among leaf traits, and ultimately to niche segregation among coexisting species. As diversification on leaf functional strategies is dependent on integration at whole plant level, we hypothesized that regardless of phylogenetic relatedness, leaf trait functional syndromes in a multivariate space would be associated with the type of growth form...
April 2017: Oecologia
https://www.readbyqxmd.com/read/28098631/after-the-fall-the-tapestry-of-disturbance-and-recovery
#18
Nalini M Nadkarni
On July 3, 2015, Nalini Nadkarni, a world-renowned ecologist who had been studying the biologic processes of ecosystem disturbance and recovery, sustained a catastrophic 50-foot free-fall from the top of the rainforest canopy to the forest floor at her remote field research site. She lost consciousness in shock and sustained life-threatening injuries. Her accompanying students hiked out, radio-called 911, and the Harborview Medical Center (Seattle) Medivac team arrived 4 hours later to rescue her. Her prognosis was extremely grim; her family gathered in anticipation of her death as she underwent four operations during her 10 days in the ICU...
February 2017: Critical Care Medicine
https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#19
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28077706/connexin-mediated-signaling-in-nonsensory-cells-is-crucial-for-the-development-of-sensory-inner-hair-cells-in-the-mouse-cochlea
#20
Stuart L Johnson, Federico Ceriani, Oliver Houston, Roman Polishchuk, Elena Polishchuk, Giulia Crispino, Veronica Zorzi, Fabio Mammano, Walter Marcotti
Mutations in the genes encoding for gap junction proteins connexin 26 (Cx26) and connexin 30 (Cx30) have been linked to syndromic and nonsyndromic hearing loss in mice and humans. The release of ATP from connexin hemichannels in cochlear nonsensory cells has been proposed to be the main trigger for action potential activity in immature sensory inner hair cells (IHCs), which is crucial for the refinement of the developing auditory circuitry. Using connexin knock-out mice, we show that IHCs fire spontaneous action potentials even in the absence of ATP-dependent intercellular Ca(2+) signaling in the nonsensory cells...
January 11, 2017: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
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