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https://www.readbyqxmd.com/read/29332244/structural-insights-into-the-function-of-elongator
#1
REVIEW
Udit Dalwadi, Calvin K Yip
Conserved from yeast to humans, Elongator is a protein complex implicated in multiple processes including transcription regulation, α-tubulin acetylation, and tRNA modification, and its defects have been shown to cause human diseases such as familial dysautonomia. Elongator consists of two copies of six core subunits (Elp1, Elp2, Elp3, Elp4, Elp5, and Elp6) that are organized into two subcomplexes: Elp1/2/3 and Elp4/5/6 and form a stable assembly of ~ 850 kDa in size. Although the catalytic subunit of Elongator is Elp3, which contains a radical S-adenosyl-L-methionine (SAM) domain and a putative histone acetyltransferase domain, the Elp4/5/6 subcomplex also possesses ATP-modulated tRNA binding activity...
January 13, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29331491/investigating-the-relationship-between-cardiac-interoception-and-autonomic-cardiac-control-using-a-predictive-coding-framework
#2
Andrew P Owens, Karl J Friston, David A Low, Christopher J Mathias, Hugo D Critchley
Predictive coding models, such as the 'free-energy principle' (FEP), have recently been discussed in relation to how interoceptive (afferent visceral feedback) signals update predictions about the state of the body, thereby driving autonomic mediation of homeostasis. This study appealed to 'interoceptive inference', under the FEP, to seek new insights into autonomic (dys)function and brain-body integration by examining the relationship between cardiac interoception and autonomic cardiac control in healthy controls and patients with forms of orthostatic intolerance (OI); to (i) seek empirical support for interoceptive inference and (ii) delineate if this relationship was sensitive to increased interoceptive prediction error in OI patients during head-up tilt (HUT)/symptom provocation...
January 9, 2018: Autonomic Neuroscience: Basic & Clinical
https://www.readbyqxmd.com/read/29313588/paraneoplastic-inverse-myasthenic-syndrome-as-a-presentation-of-bronchogenic-carcinoma
#3
G S Chowdhary, Malav Jhala
Tumours may produce growth factors and cytokines responsible for signs and symptoms distant to the primary or metastatic site. This may be the first sign of a malignancy and its recognition may be critical for early cancer detection. Moreover, proper diagnosis spares the patient of extensive and expensive search for an alternate cause of the neurological dysfunction. In neurological paraneoplastic syndromes like Lambert Eaton Myasthenic syndrome associated with small cell lung cancer, evidence of autoimmunity against presynaptic neuro-muscular junction by anti voltage gated calcium channel anti bodies is well documented...
September 2017: Journal of the Association of Physicians of India
https://www.readbyqxmd.com/read/29289840/founder-mutation-in-ikbkap-gene-causes-vestibular-impairment-in-familial-dysautonomia
#4
Joel V Gutiérrez, Horacio Kaufmann, Jose-Alberto Palma, Carlos Mendoza-Santiesteban, Vaughan G Macefield, Lucy Norcliffe-Kaufmann
OBJECTIVE: To assess vestibular function in patients with familial dysautonomia (FD), a hereditary sensory and autonomic neuropathy - caused by a mutation in the IKBKAP gene (c.2204 + 6 T>C) - and characterized by marked gait ataxia. METHODS: Cervical and vestibular evoked myogenic potentials (cVEMPs and oVEMPs) were recorded from the sternocleidomastoid (SCM) and extraocular muscles in 14 homozygous patients, 2 heterozygous patients, and 15 healthy controls during percussion of the forehead...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29278286/autonomic-dysfunction-in-parkinson-s-disease-a-prospective-cohort-study
#5
Aristide Merola, Alberto Romagnolo, Michela Rosso, Ritika Suri, Zoe Berndt, Simona Maule, Leonardo Lopiano, Alberto J Espay
BACKGROUND: Dysautonomia is a frequent and disabling complication of PD, with an estimated prevalence of 30-40% and a significant impact on the quality of life. OBJECTIVES: To evaluate the rate of progression of dysautonomia and, in particular, orthostatic hypotension, in a cohort of unselected PD patients, and assess the extent to which the progression of dysautonomia affects activities of daily living, health-related quality of life, and health care utilization in PD...
December 26, 2017: Movement Disorders: Official Journal of the Movement Disorder Society
https://www.readbyqxmd.com/read/29234869/a-controlled-trial-of-inhaled-bronchodilators-in-familial-dysautonomia
#6
Bat-El Bar-Aluma, Ori Efrati, Horacio Kaufmann, Jose-Alberto Palma, Lucy Norcliffe-Kaufmann
BACKGROUND: Chronic lung disease is a leading cause of premature death in patients with familial dysautonomia (FD). A significant number of patients have obstructive airway disease, yet it is not known whether this is pharmacologically reversible. METHODS: We conducted a double-blind, placebo-controlled, randomized clinical trial comparing the beta 2 agonist albuterol with the muscarinic blocker ipratropium bromide in patients homozygous for the IKBKAP founder mutation...
December 12, 2017: Lung
https://www.readbyqxmd.com/read/29212396/dysautonomia-in-the-pathogenesis-of-migraine
#7
Parisa Gazerani, Brian Edwin Cairns
Migraine is a common complex neurological disorder involving multiple brain areas that regulate autonomic, affective, cognitive, and sensory functions. This review explores autonomic nervous system (ANS) dysfunction in migraine headache sufferers. Areas covered: Reference material for this review was obtained through PubMed searches. Migraine attacks can present with up to 4 phases (premonitory, aura, headache, postdrome) each with distinguishable signs and symptoms. Altered ANS tone can be found from the premonitory through the postdrome phases...
December 13, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29204821/development-of-a-clinical-prediction-score-for-detection-of-suspected-cases-of-equine-grass-sickness-dysautonomia-in-france
#8
P K Randleff-Rasmussen, A Leblond, J Cappelle, J Bontemps, S Belluco, M R Popoff, C Marcillaud-Pitel, J Tapprest, P Tritz, I Desjardins
Equine grass sickness (EGS) (equine dysautonomia) is a neurodegenerative condition of grazing equines. Pre-mortem diagnosis of EGS is a challenge for practitioners as definitive diagnosis requires ileal/myenteric lymph node biopsies. This study aimed to develop a clinical score that could be used by practitioners to improve the detection of acute or subacute EGS cases in the field. Suspected EGS cases were declared by veterinary practitioners. A case was classified as confirmed positive if ileal or rectal biopsy samples showed neuronal degeneration typical of EGS...
December 4, 2017: Veterinary Research Communications
https://www.readbyqxmd.com/read/29184345/vagus-nerve-stimulation-modulates-complexity-of-heart-rate-variability-differently-during-sleep-and-wakefulness
#9
Karthi Balasubramanian, K Harikumar, Nithin Nagaraj, Sandipan Pati
Progressive loss of heart rate variability (HRV) and complexity are associated with increased risk of mortality in patients with cardiovascular disease and are a candidate marker for patients at risk of sudden cardiac death. HRV is influenced by the cardiac autonomic nervous system (ANS), although it is unclear which arm of the ANS (sympathetic or parasympathetic) needs to be perturbed to increase the complexity of HRV. In this case-control study, we have analyzed the relation between modulation of vagus nerve stimulation (VNS) and changes in complexity of HRV as a function of states of vigilance...
October 2017: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/29131019/utility-of-autonomic-function-tests-to-differentiate-dementia-with-lewy-bodies-and-parkinson-disease-with-dementia-from-alzheimer-disease
#10
Shuta Toru, Tadashi Kanouchi, Takanori Yokota, Yosuke Yagi, Akira Machida, Takayoshi Kobayashi
OBJECTIVE: We studied autonomic disturbance in patients with dementia with Lewy bodies (DLB), Parkinson disease with dementia (PDD), Alzheimer disease (AD), to determine whether autonomic function tests can be used to distinguish these disorders. METHODS: Autonomic function was tested in 56 patients with DLB, 37 patients with PDD, and 59 patients with AD by using the sympathetic skin response, coefficient of variation in R-R interval, the head-up tilt test, serum norepinephrine concentration, and 123I-meta-iodobenzylguanidine cardiac scintigraphy...
November 13, 2017: European Neurology
https://www.readbyqxmd.com/read/29117739/cardiac-autonomic-denervation-and-expression-of-neurotrophins-ngf-and-bdnf-and-their-receptors-during-experimental-chagas-disease
#11
Natália Katley Oliveira, Rodrigo Novaes Ferreira, Sara Delaine Nogueira Lopes, Egler Chiari, Elizabeth Ribeiro da Silva Camargos, Patricia Massara Martinelli
Although cardiac dysautonomia is a distinctive feature of Chagas disease, its clinical and functional significance is still being speculated. Neurotrophic factors are potentially involved; however, studies of their effect in this infection are rare. Ultrastructural abnormalities in autonomic varicosities, levels of both nerve growth factor (NGF), and brain-derived neurotrophic factor (BDNF), as well as the expression of their receptors, were analysed in the heart of a rat model of Trypanosoma infection. Predominantly, at the early stage of the infection, cardiac autonomic varicosities displayed several signs of degeneration parallel to the elevation of cardiac levels of NGF, as well as expression of the receptors TrkA and p75NTR...
November 8, 2017: Growth Factors
https://www.readbyqxmd.com/read/29102669/acute-particulate-matter-affects-cardiovascular-autonomic-modulation-and-ifn-%C3%AE-methylation-in-healthy-volunteers
#12
Eleonora Tobaldini, Valentina Bollati, Marta Prado, Elisa M Fiorelli, Marica Pecis, Giorgio Bissolotti, Benedetta Albetti, Laura Cantone, Chiara Favero, Chiara Cogliati, Paolo Carrer, Andrea Baccarelli, Pier Alberto Bertazzi, Nicola Montano
AIMS: Air particulate matter (PM) is associated with increased cardiovascular morbidity and mortality. Altered autonomic functions play a key role in PM-induced cardiovascular disease. However, previous studies have not address the impact of PM on sympathetic and parasympathetic control of heart function, independently, and using controlled conditions, i.e., increasing titration of PM of known composition, in absence of other potential confounding factors. To fill this gap, here we used symbolic analysis that is capable of detecting non-mutual changes of the two autonomic branches, thus considering them as independent, and concentrations of PM as they could be measured at peak levels in Milan during a polluted winter day...
November 2, 2017: Environmental Research
https://www.readbyqxmd.com/read/29094812/validation-and-cross-cultural-adaptation-of-the-compass-31-in-croatian-and-serbian-patients-with-multiple-sclerosis
#13
Jelena Drulović, Anđela Gavrilović, Luka Crnošija, Darija Kisić-Tepavčević, Magdalena Krbot Skorić, Jovana Ivanović, Ivan Adamec, Irena Dujmović, Anamari Junaković, Gorica Marić, Vanja Martinović, Tatjana Pekmezović, Mario Habek
AIM: To validate and cross-culturally adapt Croatian and Serbian versions of composite autonomic symptom score-31 (COMPASS-31) for the detection of dysautonomia in patients with multiple sclerosis (MS). METHODS: A total of 179 patients, 67 with clinically isolated syndrome (CIS) and 112 with MS, completed the COMPASS-31 at two MS centers in Zagreb and Belgrade between April 1 and October 31, 2016. Demographic and clinical data including age, gender, MS phenotypes, and the Expanded Disability Status Scale (EDSS) score were collected...
October 31, 2017: Croatian Medical Journal
https://www.readbyqxmd.com/read/29094055/effect-of-menstrual-cycle-on-acute-intermittent-porphyria
#14
V R Souza Júnior, V M V Lemos, I M L Feitosa, R Florencio, C W B Correia, L B Correia Fontes, M F Hazin Costa, M C B Correia
A 16-year-old female who was attended as an outpatient reported localized, acute abdominal pain with vomiting, symmetrical motor weakness, and burning sensation in both arms and legs. Her medical history showed irrational behavior, repeated admissions at the emergency units of many other reference hospitals, where she had been investigated for celiac disease and treated with analgesics for pain events. Her clinical condition remained unchanged despite the use of many oral analgesics. In those admissions, she showed dysautonomia, vomiting, and abdominal pain...
January 2017: Child Neurology Open
https://www.readbyqxmd.com/read/29066979/autonomic-dysfunction-in-wilson-s-disease-a-comprehensive-evaluation-during-a-3-year-follow-up
#15
Kai Li, Charlotte Lindauer, Rocco Haase, Heinz Rüdiger, Heinz Reichmann, Ulrike Reuner, Tjalf Ziemssen
Objectives: Wilson's disease is reported to have autonomic dysfunction, but comprehensive evaluation of autonomic function is lacking. Additionally, little is known about the change of autonomic function of Wilson's disease during continuous therapy. We assumed that patients with Wilson's disease had both sympathetic and parasympathetic autonomic impairments, and the autonomic dysfunction might be stable across a 3-year follow-up after years of optimal treatment. Methods: Twenty-six patients with Wilson's disease and twenty-six healthy controls were recruited...
2017: Frontiers in Physiology
https://www.readbyqxmd.com/read/29058121/multiple-system-atrophy-experimental-models-and-reality
#16
REVIEW
Cassia Overk, Edward Rockenstein, Elvira Valera, Nadia Stefanova, Gregor Wenning, Eliezer Masliah
Multiple system atrophy (MSA) is a rapidly progressing fatal synucleinopathy of the aging population characterized by parkinsonism, dysautonomia, and in some cases ataxia. Unlike other synucleinopathies, in this disorder the synaptic protein, α-synuclein (α-syn), predominantly accumulates in oligodendroglial cells (and to some extent in neurons), leading to maturation defects of oligodendrocytes, demyelination, and neurodegeneration. The mechanisms through which α-syn deposits occur in oligodendrocytes and neurons in MSA are not completely clear...
October 20, 2017: Acta Neuropathologica
https://www.readbyqxmd.com/read/29057715/structural-and-functional-alterations-of-the-heart-in-parkinson-s-disease
#17
Jesús Piqueras-Flores, Ana López-García, Álvaro Moreno-Reig, Alicia González-Martínez, Amalia Hernández-González, Julia Vaamonde-Gamo, Alfonso Jurado-Román
Parkinson's disease (PD) patients have most frequently heart failure. The cause of this increased prevalence is not known. We designed a study to assess the cardiac function and cardiac structure in patients with PD compared to a control group. METHODS: Cross-sectional study with 50 PD patients and 50 healthy matched controls. We performed electro and echocardiograms to all patients and controls. The measurements were blind. In addition, we performed a neurological assessment. RESULTS: PD patients had higher left ventricular mass index (114...
October 23, 2017: Neurological Research
https://www.readbyqxmd.com/read/29055902/lgi1-caspr2-and-related-antibodies-a-molecular-evolution-of-the-phenotypes
#18
REVIEW
Sophie N M Binks, Christopher J Klein, Patrick Waters, Sean J Pittock, Sarosh R Irani
Recent biochemical observations have helped redefine antigenic components within the voltage-gated potassium channel (VGKC) complex. The related autoantibodies may be now divided into likely pathogenic entities, which target the extracellular domains of leucine-rich glioma-inactivated 1 (LGI1) and contactin-associated protein-like 2 (CASPR2), and species that target intracellular neuronal components and are likely non-pathogenic. This distinction has enhanced clinical practice as direct determination of LGI1 and CASPR2 antibodies offers optimal sensitivity and specificity...
October 21, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28991672/clinical-profiles-associated-with-lrrk2-and-gba-mutations-in-brazilians-with-parkinson-s-disease
#19
Camilla P da Silva, Gabriella de M Abreu, Pedro H Cabello Acero, Mário Campos, João S Pereira, Sarah R de A Ramos, Caroline M Nascimento, Danielle D Voigt, Ana Lucia Rosso, Marco A Araujo Leite, Luiz Felipe R Vasconcellos, Denise H Nicaretta, Marcus V Della Coletta, Delson José da Silva, Andressa P Gonçalves, Jussara M Dos Santos, Veluma Calassara, Débora Cristina T Valença, Cyro J de M Martins, Cíntia B Santos-Rebouças, Márcia M G Pimentel
BACKGROUND: Parkinson's disease (PD) is a neurodegenerative disorder characterized by remarkable phenotypic variability. Accumulated evidence points that the manifestation of PD clinical signs might be differentially modified by genetic factors, as mutations in LRRK2 and GBA genes. In this sense, the clarification of the genotype-phenotype correlations in PD has important implications in predicting prognosis and can contribute to the development of specific therapeutic approaches. METHODS: Here, we conducted the first comparative analysis of motor and non-motor features in 17 LRRK2 and 22 GBA mutation carriers and 93 non-carriers unrelated PD patients from Brazil, a highly admixed population...
October 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28976233/a-review-of-drug-therapy-for-sporadic-fatal-insomnia
#20
Pardis Tabaee Damavandi, Martin T Dove, Richard W Pickersgill
BACKGROUND: Sporadic fatal insomnia (sFI) is a rapid progressive neurodegenerative disease characterised by gradual to perpetual insomnia, followed by dysautonomia, coma and death. (1) The cause of sFI was recently mapped to a mutation in a protein, the prion, found in the human brain. It is the unfolding of the prion that leads to the generation of toxic oligomers that destroy brain tissue and function. Recent studies have confirmed that a methionine mutation at codon 129 of the human Prion is characteristic of sFI...
September 3, 2017: Prion
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