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Dysautonomia

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https://www.readbyqxmd.com/read/28333983/alterations-in-amino-acid-status-in-cats-with-feline-dysautonomia
#1
Bruce C McGorum, Herb W Symonds, Clare Knottenbelt, Tom A Cave, Susan J MacDonald, Joanna Stratton, Irene Leon, Judith A Turner, R Scott Pirie
Feline dysautonomia (FD) is a multiple system neuropathy of unknown aetiology. An apparently identical disease occurs in horses (equine grass sickness, EGS), dogs, rabbits, hares, sheep, alpacas and llamas. Horses with acute EGS have a marked reduction in plasma concentrations of the sulphur amino acids (SAA) cyst(e)ine and methionine, which may reflect exposure to a neurotoxic xenobiotic. The aim of this study was to determine whether FD cats have alterations in amino acid profiles similar to those of EGS horses...
2017: PloS One
https://www.readbyqxmd.com/read/28324299/fatal-familial-insomnia-clinical-aspects-and-molecular-alterations
#2
REVIEW
Franc Llorens, Juan-José Zarranz, Andre Fischer, Inga Zerr, Isidro Ferrer
PURPOSE OF REVIEW: Fatal familiar insomnia (FFI) is an autosomal dominant inherited prion disease caused by D178N mutation in the prion protein gene (PRNP D178N) accompanied by the presence of a methionine at the codon 129 polymorphic site on the mutated allele. FFI is characterized by severe sleep disorder, dysautonomia, motor signs and abnormal behaviour together with primary atrophy of selected thalamic nuclei and inferior olives, and expansion to other brain regions with disease progression...
April 2017: Current Neurology and Neuroscience Reports
https://www.readbyqxmd.com/read/28319594/long-term-cardiovascular-autonomic-and-clinical-changes-after-immunoglobulin-g-immunoadsorption-therapy-in-autoimmune-autonomic-ganglionopathy
#3
Franca Barbic, Franca Dipaola, Francesca Andreetta, Enrico Brunetta, Laura Dalla Vecchia, Renato Mantegazza, Raffaello Furlan, Carlo Antozzi
A 63-year-old male was diagnosed with autoimmune autonomic ganglionopathy based on the finding of plasma antibodies to the nicotinic acetylcholine receptor (nAChR) of autonomic ganglia. He complained of mouth and eye dryness, dysphagia, severe constipation, erectile dysfunction, urgency, frequent urination, habitual orthostatic syncope and presyncope. A remarkable symptomatic orthostatic hypotension without changes in heart rate was present. We here describe the 3-year time course of the changes in spectral indices of cardiovascular autonomic control LF/HF and LFSAP, dysautonomia symptoms intensity and anti-nAChR antibodies following repetitive selective immunoadsorptions...
March 17, 2017: Journal of Hypertension
https://www.readbyqxmd.com/read/28318820/sarcoidosis-associated-small-fiber-neuropathy-in-a-large-cohort-clinical-aspects-and-response-to-ivig-and-anti-tnf-alpha-treatment
#4
Jinny O Tavee, Karen Karwa, Zubair Ahmed, Nicolas Thompson, Joseph Parambil, Daniel A Culver
OBJECTIVE: Small fiber neuropathy commonly affects patients with sarcoidosis and is often refractory to standard immunosuppressive therapies used for systemic disease. The clinical features of sarcoidosis-associated small fiber neuropathy (SSFN) and its response to medical therapy have not been described in a large population. METHODS: We performed a retrospective review of patients with SSFN seen at the Cleveland Clinic over a 4-year period. RESULTS: SSFN was identified in 143 individuals although other causes of neuropathy were found in 28 cases...
March 9, 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28261938/mast-cell-disorders-in-ehlers-danlos-syndrome
#5
REVIEW
Suranjith L Seneviratne, Anne Maitland, Lawrence Afrin
Well known for their role in allergic disorders, mast cells (MCs) play a key role in homeostatic mechanisms and surveillance, recognizing and responding to different pathogens, and tissue injury, with an array of chemical mediators. After being recruited to connective tissues, resident MCs progenitors undergo further differentiation, under the influence of signals from surrounding microenvironment. It is the differential tissue homing and local maturation factors which result in a diverse population of resident MC phenotypes...
March 6, 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28255253/a-case-report-of-complex-auricular-neuralgia-treated-with-the-great-auricular-nerve-and-facet-blocks
#6
Marzieh Eghtesadi, Elizabeth Leroux, Grisell Vargas-Schaffer
BACKGROUND: The great auricular nerve is a cutaneous branch of the cervical plexus originating from the C2 and C3 spinal nerves. It innervates the skin over the external ear, the angle of the mandible and the parotid gland. It communicates with the ansa cervicalis. Great auricular neuralgia is rarely diagnosed in clinical practice and can be refractory. We present a new approach using ultrasound-guided nerve blocks. CASE: We present a case of a 41-year-old female with paroxysmal ear pain accompanied by dysautonomia, tingling in the tongue, dysphagia, dysarthria and abdominal symptoms...
2017: Journal of Pain Research
https://www.readbyqxmd.com/read/28250027/predictors-of-survival-in-progressive-supranuclear-palsy-and-multiple-system-atrophy-a-systematic-review-and-meta-analysis
#7
Stella Andrea Glasmacher, Peter Nigel Leigh, Romi Anirban Saha
OBJECTIVE: To undertake a systematic review and meta-analysis of studies that investigated prognostic factors and survival in patients with progressive supranuclear palsy (PSP) and multiple system atrophy (MSA). METHODS: Publications of at least 10 patients with a likely or confirmed diagnosis of PSP or MSA were eligible for inclusion. Methodological quality was rated using a modified version of the Quality in Prognostic Studies tool. For frequently examined prognostic factors, HRs derived by univariate and multivariate analysis were pooled in separate subgroups; other results were synthesised narratively and HRs could not be reported here...
March 1, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28244034/depression-and-cardiac-dysautonomia-in-eating-disorders
#8
Herbert F Jelinek, Ian Spence, David J Cornforth, Mika P Tarvainen, Janice Russell
PURPOSE: Individuals with eating disorder (ED) are at an increased risk of cardiac arrhythmias due to cardiac dysautonomia, which may be exacerbated if depression is also present. The aim of the study was to use heart rate analysis as a marker for cardiac dysautonomia in patients with eating disorders and depression as a comorbidity. METHODS: Clinical data, including presence of depression, was obtained from all participants. A three-lead ECG was used to determine interbeat intervals, and these were analyzed using time domain, frequency domain, and nonlinear heart rate variability measures...
February 27, 2017: Eating and Weight Disorders: EWD
https://www.readbyqxmd.com/read/28228307/comparative-study-of-cardiac-autonomic-status-by-heart-rate-variability-between-under-treatment-normotensive-and-hypertensive-known-type-2-diabetics
#9
Jayesh D Solanki, Sanket D Basida, Hemant B Mehta, Sunil J Panjwani, Bhakti P Gadhavi
BACKGROUND: Co-existence of hypertension is known in three quarter of Indian type 2 diabetics, this duo having adverse additive effect on cardiovascular health including dysautonomia. Latter can be measured by simple 5min heart rate variability (HRV) using simple electrocardiogram, which if reduced indicates cardiac risk. OBJECTIVE: We compared HRV parameters between hypertensive and normotensive type 2 diabetics, looking for significant difference if any. MATERIALS AND METHODS: 98 hypertensive and 40 normotensive type 2 diabetics treated as outpatients were evaluated for disease control and risk stratification...
January 2017: Indian Heart Journal
https://www.readbyqxmd.com/read/28228131/whole-genome-sequencing-of-one-complex-pedigree-illustrates-challenges-with-genomic-medicine
#10
Han Fang, Yiyang Wu, Hui Yang, Margaret Yoon, Laura T Jiménez-Barrón, David Mittelman, Reid Robison, Kai Wang, Gholson J Lyon
BACKGROUND: Human Phenotype Ontology (HPO) has risen as a useful tool for precision medicine by providing a standardized vocabulary of phenotypic abnormalities to describe presentations of human pathologies; however, there have been relatively few reports combining whole genome sequencing (WGS) and HPO, especially in the context of structural variants. METHODS: We illustrate an integrative analysis of WGS and HPO using an extended pedigree, which involves Prader-Willi Syndrome (PWS), hereditary hemochromatosis (HH), and dysautonomia-like symptoms...
February 23, 2017: BMC Medical Genomics
https://www.readbyqxmd.com/read/28217248/iatrogenic-amyloid-polyneuropathy-after-domino-liver-transplantation
#11
REVIEW
Diana Mnatsakanova, Saša A Živković
Liver transplantation has been used in treatment of transthyretin amyloidosis, and some patients undergo domino liver transplantation (DLT) with explanted liver being transplanted to another patient with liver failure as the liver is otherwise usually functionally normal. Until end of 2015, there were 1154 DLT performed worldwide. DLT for transthyretin amyloidosis is associated with the risk of developing de novo systemic amyloidosis and amyloid neuropathy, and the risk may be greater with some non-Val30Met mutations...
January 28, 2017: World Journal of Hepatology
https://www.readbyqxmd.com/read/28187808/diagnosis-and-management-of-acute-encephalitis
#12
REVIEW
J J Halperin
Encephalitis is typically viral (approximately half of diagnosed cases) or autoimmune (about a quarter) with the remainder remaining undiagnosable at this time. All require general supportive care but only a minority requires intensive care admission - in these intubation, to protect the airway or to treat status epilepticus with anesthetic drugs, may be needed. In some dysautonomia with wide blood pressure fluctuations is the principal concern. Remarkably, in addition to supportive care, specific treatment options are available for the majority - immune-modulating therapy for those with autoimmune disorders, antiviral therapy for herpes simplex 1 and 2, and varicella-zoster encephalitis...
2017: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/28179209/administration-of-anabolic-steroid-during-adolescence-induces-long-term-cardiac-hypertrophy-and-increases-susceptibility-to-ischemia-reperfusion-injury-in-adult-wistar-rats
#13
Fernando de Azevedo Cruz Seara, Raiana Andrade Quintanilha Barbosa, Dahienne Ferreira de Oliveira, Diorney Luiz Souza Gran da Silva, Adriana Bastos Carvalho, Andrea Claudia Freitas Ferreira, José Hamilton Matheus Nascimento, Emerson Lopes Olivares
Chronic administration of anabolic androgenic steroids (AAS) in adult rats results in cardiac hypertrophy and increased susceptibility to myocardial ischemia/reperfusion (IR) injury. Molecular analyses demonstrated that hyperactivation of type 1 angiotensin II (AT1) receptor mediates cardiac hypertrophy induced by AAS and also induces down-regulation of myocardial ATP-sensitive potassium channel (KATP), resulting in loss of exercise-induced cardioprotection. Exposure to AAS during adolescence promoted long-term cardiovascular dysfunctions, such as dysautonomia...
February 5, 2017: Journal of Steroid Biochemistry and Molecular Biology
https://www.readbyqxmd.com/read/28167615/the-familial-dysautonomia-disease-gene-ikbkap-elp1-is-required-in-the-developing-and-adult-central-nervous-system
#14
Marta Chaverra, Lynn George, Marc Mergy, Hannah Waller, Katharine Kujawa, Connor Murnion, Ezekiel Sharples, Julian Thorne, Nathaniel Podgajny, Andrea Grindeland, Yumi Ueki, Steven Eiger, Cassie Cusick, A Michael Babcock, George A Carlson, Frances Lefcort
Hereditary sensory and autonomic neuropathies (HSANs) are a genetically and clinically diverse group of disorders defined by peripheral nervous system (PNS) dysfunction. HSAN Type III, Familial Dysautonomia (FD), results from a single base mutation in the gene IKBKAP that encodes a scaffolding unit for a multi-subunit complex Elongator. Since mutations in other Elongator subunits (ELP2-4) are associated with central nervous system (CNS) disorders, the goal of this study was to investigate a potential CNS requirement for Ikbkap/Elp1 The sensory and autonomic pathophysiology of FD is fatal, with the majority of patients dying by age 40...
February 6, 2017: Disease Models & Mechanisms
https://www.readbyqxmd.com/read/28164144/pure-autonomic-failure-versus-prodromal-dysautonomia-in-parkinson%C3%A2-s-disease-insights-from-the-bedside
#15
Aristide Merola, Alberto J Espay, Maurizio Zibetti, Alberto Romagnolo, Michela Rosso, Simona Maule, Leonardo Lopiano
No abstract text is available yet for this article.
January 2017: Movement Disorders Clinical Practice
https://www.readbyqxmd.com/read/28162168/-analysis-of-clinical-characteristics-and-outcomes-of-mechanically-ventilated-patients-with-anti-n-methyl-d-aspartate-receptor-encephalitis
#16
Y Zhang, Y Y Su, D Q Gao, H Ye
Objective: To explore the clinical characteristics and long-term outcomes of mechanically ventilated patients with anti-N-methyl-D-aspartate receptor (anti-NMDAR) encephalitis. Methods: In this observational study, patients with anti-NMDAR encephalitis were enrolled, who were admitted into Xuanwu Hospital of Capital Medical University from Jan 2012 to Jun 2015.All patients accepted tumor screening, symptomatic therapy, and immunotherapy.Outcomes were assessed by modified Rankin Scale (mRS) after immunotherapy every 6 months, and mRS 0-2 was defined as favorable outcome...
January 17, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28161223/genetic-polymorphisms-in-the-esr1-and-vdr-genes-do-not-correlate-with-osteoporosis-in-patients-with-familial-dysautonomia
#17
David Cheishvili, Channa Maayan, Daniel M Sapozhnikov, Elad Lax, Rivka Dresner-Pollak
One of the major clinical manifestations of familial dysautonomia (FD)-a rare, neurodegenerative, autosomal-recessive disorder-is a high incidence and early onset of osteoporotic bone fractures. Early diagnosis is essential to initiate preventative therapy in at-risk patients and thus improve quality of life. However, the current lack of understanding of the complex relationship between FD and osteoporosis etiology precludes early diagnosis, and as such, accurate predictors of osteoporosis development in FD patients remain to be determined...
February 1, 2017: Journal of Clinical Densitometry
https://www.readbyqxmd.com/read/28149085/complications-in-mechanically-ventilated-patients-of-guillain-barre-syndrome-and-their-prognostic-value
#18
Archana Becket Netto, Arun B Taly, Girish B Kulkarni, G S Uma Maheshwara Rao, Shivaji Rao
INTRODUCTION: The spectrum of various complications in critically ill Guillain-Barre syndrome (GBS) and its effect on the prognosis is lacking in literature. This study aimed at enumerating the complications in such a cohort and their significance in the prognosis and mortality. MATERIALS AND METHODS: Retrospective case record analysis of all consecutive mechanically ventilated patients of GBS in neurology Intensive Care Unit (ICU) of a tertiary care institute for 10 years was done...
January 2017: Journal of Neurosciences in Rural Practice
https://www.readbyqxmd.com/read/28149069/impact-of-yoga-in-a-case-of-vocal-cord-dysfunction-with-dysautonomia
#19
Rozina Wadhwania
A 23-year-old female with a past medical history of gastroesophageal reflux disease presented with shortness of breath induced by exercise and certain odors. She reported the symptoms of autonomic dysfunction including fatigue, chest pain, lightheadedness, headaches, numbness/tingling in the arms and legs, and exercise intolerance. Vital signs were significant for orthostatic intolerance. Volume flow loop in the pulmonary function tests showed a flattening of the inspiratory portion characteristic of vocal cord dysfunction...
January 2017: International Journal of Yoga
https://www.readbyqxmd.com/read/28144147/neuroleptic-malignant-syndrome-an-easily-overlooked-neurologic-emergency
#20
REVIEW
Ramadhan Oruch, Ian F Pryme, Bernt A Engelsen, Anders Lund
Neuroleptic malignant syndrome is an unpredictable iatrogenic neurologic emergency condition, mainly arising as an idiosyncratic reaction to antipsychotic agent use. It is characterized by distinctive clinical features including a change in mental status, generalized rigidity, hyperpyrexia, and dysautonomia. It can be lethal if not diagnosed and treated properly. Mortality and morbidity attributed to this syndrome have recently declined markedly due to greater awareness, earlier diagnosis, and intensive care intervention...
2017: Neuropsychiatric Disease and Treatment
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