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Dysautonomia

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https://www.readbyqxmd.com/read/29781817/intravenous-immunoglobulin-therapy-in-refractory-autoimmune-dysautonomias-a-retrospective-analysis-of-38-patients
#1
Jill R Schofield, Kamal R Chemali
BACKGROUND: Intravenous immunoglobulin (IVIG) has recognized efficacy in autoimmune peripheral nerve disorders, but there has been limited study of the use of IVIG in autoimmune dysautonomias. STUDY QUESTION: To determine the efficacy and safety of IVIG in patients with disabling, refractory autoimmune dysautonomias, including patients with postural tachycardia syndrome and gastrointestinal dysmotility. STUDY DESIGN: Patients with one or more autonomic disorder(s) and persistent serological evidence for autoimmunity who were unable to work or attend school despite usual treatments for dysautonomia were treated with IVIG for at least 3 months at a dose of at least 1 gm/kg monthly...
May 14, 2018: American Journal of Therapeutics
https://www.readbyqxmd.com/read/29766276/anti-ganglionic-achr-antibodies-in-japanese-patients-with-motility-disorders
#2
Akihiro Mukaino, Hitomi Minami, Hajime Isomoto, Hitomi Hamamoto, Eikichi Ihara, Yasuhiro Maeda, Osamu Higuchi, Tohru Okanishi, Yohei Kokudo, Kazushi Deguchi, Fumisato Sasaki, Toshihito Ueki, Ken-Ya Murata, Takeshi Yoshida, Mistuyo Kinjo, Yoshihiro Ogawa, Akio Ido, Hidenori Matsuo, Kazuhiko Nakao, Shunya Nakane
BACKGROUND: The existence of several autoantibodies suggests an autoimmune basis for gastrointestinal (GI) dysmotility. Whether GI motility disorders are features of autoimmune autonomic ganglionopathy (AAG) or are related to circulating anti-ganglionic acetylcholine receptor (gAChR) antibodies (Abs) is not known. The aim of this study was to determine the associations between autonomic dysfunction, anti-gAChR Abs, and clinical features in patients with GI motility disorders including achalasia and chronic intestinal pseudo-obstruction (CIPO)...
May 15, 2018: Journal of Gastroenterology
https://www.readbyqxmd.com/read/29762696/blocking-of-an-intronic-splicing-silencer-completely-rescues-ikbkap-exon-20-splicing-in-familial-dysautonomia-patient-cells
#3
Gitte H Bruun, Jeanne Mv Bang, Lise L Christensen, Sabrina Brøner, Ulrika Ss Petersen, Barbara Guerra, Alexander Gb Grønning, Thomas K Doktor, Brage S Andresen
Familial dysautonomia (FD) is a severe genetic disorder causing sensory and autonomic dysfunction. It is predominantly caused by a c.2204+6T>C mutation in the IKBKAP gene. This mutation decreases the 5' splice site strength of IKBKAP exon 20 leading to exon 20 skipping and decreased amounts of full-length IKAP protein. We identified a binding site for the splicing regulatory protein hnRNP A1 downstream of the IKBKAP exon 20 5'-splice site. We show that hnRNP A1 binds to this splicing regulatory element (SRE) and that two previously described inhibitory SREs inside IKBKAP exon 20 are also bound by hnRNP A1...
May 14, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29716616/stability-of-the-htlv-1-glycoprotein-46-gp46-gene-in-an-endemic-region-of-the-brazilian-amazon-and-the-presence-of-a-significant-mutation-n93d-in-symptomatic-patients
#4
Maria de Nazaré do Socorro de Almeida Viana, Akim Felipe Santos Nobre, Edivaldo Costa, Ingrid Christiane Silva, Bruna Teles Pinheiro, Cássia Cristine Costa Pereira, Louise de Souza Canto Ferreira, Danilo Souza de Almeida, Marcos William Leão de Araújo, Mariza da Silva Borges, Carlos Araujo da Costa, Edna Aoba Yassui Ishikawa, Stephen Francis Ferrari, Maísa Silva de Sousa
BACKGROUND: The human T-lymphotropic virus type 1 (HTLV-1) affects 2-5 million people worldwide, and is associated with a number of degenerative and infectious diseases. The Envelope glycoproteins (gp) are highly conserved among the different HTLV-1 isolates, although nucleotide substitutions in the region that codifies these proteins may influence both the infectivity and the replication of the virus. The gp46 gene has functional domains which have been associated with the inhibition of the formation of the syncytium, cell-cell transmission, and the production of antibodies...
May 2, 2018: Virology Journal
https://www.readbyqxmd.com/read/29705971/roles-of-catechol-neurochemistry-in-autonomic-function-testing
#5
REVIEW
David S Goldstein, William P Cheshire
Catechols are a class of compounds that contain adjacent hydroxyl groups on a benzene ring. Endogenous catechols in human plasma include the catecholamines norepinephrine, epinephrine (adrenaline), and dopamine; the catecholamine precursor DOPA, 3,4-dihydroxyphenylglycol (DHPG), which is the main neuronal metabolite of norepinephrine; and 3,4-dihydroxyphenylacetic acid (DOPAC), which is the main neuronal metabolite of dopamine. In the diagnostic evaluation of patients with known or suspected dysautonomias, measurement of plasma catechols is rarely diagnostic but often is informative...
April 28, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/29701768/exon-specific-u1-snrnas-improve-elp1-exon-20-definition-and-rescue-elp1-protein-expression-in-a-familial-dysautonomia-mouse-model
#6
Irving Donadon, Mirko Pinotti, Katarzyna Rajkowska, Giulia Pianigiani, Elena Barbon, Elisabetta Morini, Helena Motaln, Boris Rogelj, Federico Mingozzi, Susan A Slaugenhaupt, Franco Pagani
Familial dysautonomia (FD) is a rare genetic disease with no treatment, caused by an intronic point mutation (c.2204 + 6T>C) that negatively affects the definition of exon 20 in the Elongator complex protein 1 gene (ELP1 also known as IKBKAP). This substitution modifies the 5' splice site and, in combination with regulatory splicing factors, induces different levels of exon 20 skipping, in various tissues. Here, we evaluated the therapeutic potential of a novel class of U1 snRNA molecules, Exon-Specific U1s (ExSpeU1s), in correcting ELP1 exon 20 recognition...
April 25, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29698477/characteristics-of-ataxic-gait-in-familial-dysautonomia-patients
#7
Sigal Portnoy, Channa Maayan, Jeanna Tsenter, Yonah Ofran, Vladimir Goldman, Nurit Hiller, Naama Karniel, Isabella Schwartz
INTRODUCTION AND OBJECTIVES: Progressive ataxic gait is a common symptom in individuals with Familial Dysautonomia (FD). At least 50% of adults with FD require assistance with walking. Our aims were to describe the medical condition of individuals with FD (ii) compare their gait characteristics to healthy individuals, and (iii) assess correlations between gait measures, presence of unstable gait pattern and frequency of falls. METHODS: Twelve subjects with FD (7 males, age 25...
2018: PloS One
https://www.readbyqxmd.com/read/29680425/prevalence-and-characteristics-of-sleep-disordered-breathing-in-familial-dysautonomia
#8
Kanwaljit Singh, Jose-Alberto Palma, Horacio Kaufmann, Nataliya Tkachenko, Lucy Norcliffe-Kaufmann, Christy Spalink, Mikhail Kazachkov, Sanjeev V Kothare
OBJECTIVE: Familial dysautonomia (FD) is an autosomal recessive disorder characterized by impaired development of sensory and afferent autonomic nerves. Untreated sleep-disordered breathing (SDB) has been reported to increase the risk of sudden unexpected death in FD. We aimed to describe the prevalence and characteristics of SDB in FD. PATIENTS/METHODS: Seventy-five patients with FD (20 adults and 55 children) underwent in-lab polysomnography, including peripheral capillary oxygen saturation (SpO2 ) and end-tidal capnography (EtCO2 ) measurements...
May 2018: Sleep Medicine
https://www.readbyqxmd.com/read/29672717/antisense-oligonucleotides-correct-the-familial-dysautonomia-splicing-defect-in-ikbkap-transgenic-mice
#9
Rahul Sinha, Young Jin Kim, Tomoki Nomakuchi, Kentaro Sahashi, Yimin Hua, Frank Rigo, C Frank Bennett, Adrian R Krainer
Familial dysautonomia (FD) is a rare inherited neurodegenerative disorder caused by a point mutation in the IKBKAP gene that results in defective splicing of its pre-mRNA. The mutation weakens the 5' splice site of exon 20, causing this exon to be skipped, thereby introducing a premature termination codon. Though detailed FD pathogenesis mechanisms are not yet clear, correcting the splicing defect in the relevant tissue(s), thus restoring normal expression levels of the full-length IKAP protein, could be therapeutic...
April 17, 2018: Nucleic Acids Research
https://www.readbyqxmd.com/read/29652832/sympathetic-nerve-hyperactivity-in-the-spleen-causal-for-nonpathogenic-driven-chronic-immune-mediated-inflammatory-diseases-imids
#10
REVIEW
Denise L Bellinger, Dianne Lorton
Immune-Mediated Inflammatory Diseases (IMIDs) is a descriptive term coined for an eclectic group of diseases or conditions that share common inflammatory pathways, and for which there is no definitive etiology. IMIDs affect the elderly most severely, with many older individuals having two or more IMIDs. These diseases include, but are not limited to, type-1 diabetes, obesity, hypertension, chronic pulmonary disease, coronary heart disease, inflammatory bowel disease, and autoimmunity, such as rheumatoid arthritis (RA), Sjőgren's syndrome, systemic lupus erythematosus, psoriasis, psoriatic arthritis, and multiple sclerosis...
April 13, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29626450/female-specific-association-between-variants-on-chromosome-9-and-self-reported-diagnosis-of-irritable-bowel-syndrome
#11
Ferdinando Bonfiglio, Tenghao Zheng, Koldo Garcia-Etxebarria, Fatemeh Hadizadeh, Luis Bujanda, Francesca Bresso, Lars Agreus, Anna Andreasson, Aldona Dlugosz, Greger Lindberg, Peter T Schmidt, Pontus Karling, Bodil Ohlsson, Magnus Simren, Susanna Walter, Gerardo Nardone, Rosario Cuomo, Paolo Usai-Satta, Francesca Galeazzi, Matteo Neri, Piero Portincasa, Massimo Bellini, Giovanni Barbara, Anna Latiano, Matthias Hübenthal, Vincent Thijs, Mihai G Netea, Daisy Jonkers, Lin Chang, Emeran A Mayer, Mira M Wouters, Guy Boeckxstaens, Michael Camilleri, Andre Franke, Alexandra Zhernakova, Mauro D'Amato
BACKGROUND & AIMS: Genetic factors are believed to affect risk for irritable bowel syndrome (IBS), but there have been no sufficiently powered and adequately sized studies. To identify DNA variants associated with IBS risk, we performed a genome-wide association study (GWAS) of the large UK Biobank population-based cohort, which includes genotype and health data from 500,000 participants. METHODS: We studied 7,287,191 high-quality single-nucleotide polymorphisms in individuals who self-reported a doctor's diagnosis of IBS (cases; m=9576) compared to the remainder of the cohort (controls; n=336,499) (mean age of study subjects, 40-69 years)...
April 4, 2018: Gastroenterology
https://www.readbyqxmd.com/read/29614636/autonomic-nervous-system-involvement-in-sickle-cell-disease
#12
Thomas D Coates, Patjanaporn Chalacheva, Lonnie Zeltzer, Michael C K Khoo
Sickle cell disease (SCD) is a genetic disorder of hemoglobin producing hemoglobin-S (HbS) and resulting in recurrent severe episodes of pain, organ damage and premature death due to vaso- occlusion. Deoxy HbS polymerizes, causing red cells to become rigid and lodge in the microvasculature if they do not escape into larger vessels before this transformation occurs. The mechanism that triggers this transition from steady state to vaso-occlusive crisis (VOC) is not known. Patients state that cold, emotional stress, and pain itself can trigger these events...
2018: Clinical Hemorheology and Microcirculation
https://www.readbyqxmd.com/read/29561920/the-symptom-burden-of-autonomic-dysfunction-is-positively-associated-with-chronic-rhinosinusitis-status
#13
W C Chen, Y T Chang, S F Chen, W C Lin, Y Y Su, S D Luo
BACKGROUND: Dysregulation of the autonomic system can affect sinonasal physiological function and may exacerbate the symptom burden associated with rhinosinusitis. However, the association between autonomic dysfunction and chronic rhinosinusitis (CRS) has seldom been studied. Here, we investigated the relationship between autonomic dysfunction and CRS. METHODS: Patients with CRS who failed medical treatment were prospectively enrolled. All patients underwent pre-operative examinations and completed questionnaires, including the reflux symptom index (RSI) and the Sino-nasal Outcome Test-22 (SNOT-22)...
March 21, 2018: Rhinology
https://www.readbyqxmd.com/read/29552666/improvement-of-chronic-corneal-opacity-in-ocular-surface-disease-with-prosthetic-replacement-of-the-ocular-surface-ecosystem-prose-treatment
#14
Anna Cressey, Deborah S Jacobs, Crystal Remington, Karen G Carrasquillo
Purpose: To demonstrate clearing of chronic corneal opacities and improvement of visual acuity with the use of BostonSight prosthetic replacement of the ocular surface ecosystem (PROSE) treatment in ocular surface disease. Observations: We undertook retrospective analysis of the medical records of a series of patients who underwent PROSE treatment from August 2006 to December 2014. Patients were referred for ocular surface disease of various etiologies. Primary inclusion criterion was corneal opacity that improved with PROSE treatment...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29545390/elongator-complex-is-required-for-long-term-olfactory-memory-formation-in-drosophila
#15
Dinghui Yu, Ying Tan, Molee Chakraborty, Seth Tomchik, Ronald L Davis
The evolutionarily conserved Elongator Complex associates with RNA polymerase II for transcriptional elongation. Elp3 is the catalytic subunit, contains histone acetyltransferase activity, and is associated with neurodegeneration in humans. Elp1 is a scaffolding subunit and when mutated causes familial dysautonomia. Here, we show that elp3 and elp1 are required for aversive long-term olfactory memory in Drosophila RNAi knockdown of elp3 in adult mushroom bodies impairs long-term memory (LTM) without affecting earlier forms of memory...
April 2018: Learning & Memory
https://www.readbyqxmd.com/read/29541560/managing-postural-hypotension-in-diabetic-autonomic-dysfunction-when-adrenergic-drugs-are-contraindicated-case-report-and-review-of-literature
#16
Syed Rizwan A Bokhari, Faisal Akhtar, Qurrat-Ul-Ain Abid, Uzma Jahanzaib, Maria R Bokhari, Sana Hasan, Khurshid Khan
Postural hypotension, as a manifestation of autonomic neuropathy is a very sinister long-term debilitating complication of diabetes, is usually irreversible and tough to manage with medications. The treatment of this condition following the standard treatment protocols can be contraindicated in the patients with underlying heart conditions. We report the case of a patient at our hospital who presented with full-blown symptomatic dysautonomia secondary to long-standing diabetes, with bedside testing positive for autonomic dysfunction...
January 8, 2018: Curēus
https://www.readbyqxmd.com/read/29537687/neurocardiovascular-pathology-in-pre-manifest-and-early-stage-huntington-s-disease
#17
E Bellosta Diago, J Pérez-Pérez, S Santos Lasaosa, A Viloria Alebesque, S Martínez-Horta, J Kulisevsky, J López Del Val
BACKGROUND AND PURPOSE: Cardiovascular events are a major cause of early death in the Huntington's disease (HD) population. Dysautonomia as well as deterioration of circadian rhythms can be detected early in the disease progression and can have profound effects on cardiac health. The aim of the present study was to determine if patients with HD and pre-manifest mutation carriers present a higher risk of cardiovascular disease than non-mutation-carrying controls. METHODS: This was a prospective, cross-sectional, multicentre study of 38 HD mutation carriers (23 pre-manifest and 15 early-stage patients) compared with 38 age- and gender-matched healthy controls...
March 14, 2018: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/29533949/dysautonomia-as-onset-symptom-of-myotonic-dystrophy-type-2
#18
Salvatore Rossi, Angela Romano, Anna Modoni, Francesco Perna, Valentina Rizzo, Massimo Santoro, Mauro Monforte, Maurizio Pieroni, Marco Luigetti, Maria Grazia Pomponi, Gabriella Silvestri
Myotonic dystrophy type 2 (DM2) is an autosomal dominant muscular dystrophy caused by the expansion of an intronic tetranucleotide CCTG repeat in CNBP on chromosome 3. As DM1, DM2 is a multisystem disorder affecting, beside the skeletal muscle, various other tissues, including peripheral nerves. Indeed, a subclinical involvement of peripheral nervous system has been described in several cohorts of DM2 patients, whereas DM2 patients manifesting clinical signs and/or symptoms of neuropathy have been only rarely reported...
March 13, 2018: European Neurology
https://www.readbyqxmd.com/read/29525296/further-evidence-for-a-distinctive-atypical-degenerative-parkinsonism-in-the-caribbean-a-new-cluster-in-the-french-west-indian-island-of-martinique
#19
Annie Lannuzel, Régine Edragas, Angéla Lackmy, Benoit Tressières, Véronique Pelonde, Mireille Edimo Nana Kaptué, Sylvie Mécharles, Alexis Demas, Billy François, Eavan McGovern, Marie Vidailhet, Bertrand Gaymard, Emmanuel Roze
BACKGROUND: A high prevalence of an atypical levodopa-resistant parkinsonism has been reported in the Caribbean island of Guadeloupe. These seminal observations have not been replicated or extended to neighbouring populations who share genetic and environmental characteristics. METHODS: To further characterise this atypical parkinsonism we prospectively investigated 305 consecutive patients with neurodegenerative parkinsonism in a community-based population from Guadeloupe and Martinique, a neighbouring French Caribbean island where the population has similar environmental and genetic backgrounds...
May 15, 2018: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/29511897/autonomic-involvement-in-hereditary-transthyretin-amyloidosis-hattr-amyloidosis
#20
REVIEW
Alejandra Gonzalez-Duarte
PURPOSE: Hereditary transthyretin amyloidosis (hATTR amyloidosis) is a progressive disease primarily characterized by adult-onset sensory, motor, and autonomic neuropathy. In this article, we discuss the pathophysiology and principal findings of autonomic neuropathy in hATTR amyloidosis, the most common methods of assessment and progression, and its relation as a predictive risk factor or a measure of progression in the natural history of the disease. METHODS: A literature search was performed using the terms "autonomic neuropathy," "dysautonomia," and "autonomic symptoms" in patients with hereditary transthyretin amyloidosis and familial amyloid polyneuropathy...
March 6, 2018: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
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