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dysautonomia review

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https://www.readbyqxmd.com/read/28904566/is-vitamin-d-deficiency-implicated-in-autonomic-dysfunction
#1
REVIEW
Rozina Wadhwania
Dysautonomia, dysfunction of the autonomic nervous system, presents with heterogeneous clinical features from an imbalanced regulation of the sympathetic and parasympathetic nervous systems. Low Vitamin D levels can explain the heterogeneous clinical features of migraine headaches, cardiac and gastrointestinal dysfunction, and oxidative stress evident in dysautonomia patients. The role of Vitamin D in modulating pain sensitivity has been recently established. However, there is a lack of research and understanding regarding the association between Vitamin D deficiency and autonomic dysfunction...
April 2017: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/28770651/multiple-system-atrophy-many-lessons-from-the-transcriptome
#2
Ashton Curry-Hyde, Bei Jun Chen, Uwe Ueberham, Thomas Arendt, Michael Janitz
Multiple system atrophy (MSA) is a complex, multifactorial, debilitating neurodegenerative disease that is often misdiagnosed and misunderstood. MSA has two subclasses, MSA-P and MSA-C, defined by the dominance of parkinsonism or cerebellar dysfunction in the earlier stages of disease, coupled with dysautonomia. This distinction between subclasses becomes largely redundant as the disease progresses. Aggregation of α-synuclein is a clinical marker used to confirm MSA diagnoses, which can only be performed postmortem...
August 1, 2017: Neuroscientist: a Review Journal Bringing Neurobiology, Neurology and Psychiatry
https://www.readbyqxmd.com/read/28738696/the-role-of-autoantibodies-in-the-syndromes-of-orthostatic-intolerance-a-systematic-review
#3
REVIEW
Mohammed Ruzieh, Lillian Batizy, Osama Dasa, Carson Oostra, Blair Grubb
Orthostatic intolerance is defined as the provocation of symptoms upon standing, commonly caused by neurogenic orthostatic hypotension (OH) and postural tachycardia syndrome (POTS), the etiology for which has not been fully uncovered yet. Many reports have described the occurrence of dysautonomia, orthostatic intolerance and POTS following febrile illness, presumably viral and post-vaccine. Furthermore, patients with dysautonomia have higher rates of autoimmune disorders such as Hashimoto thyroiditis and SLE...
October 2017: Scandinavian Cardiovascular Journal: SCJ
https://www.readbyqxmd.com/read/28725706/the-effect-of-deep-brain-stimulation-on-the-non-motor-symptoms-of-parkinson-s-disease-a-critical-review-of-the-current-evidence
#4
REVIEW
Mónica M Kurtis, Thadshani Rajah, Luisa F Delgado, Haidar S Dafsari
The benefit of deep brain stimulation (DBS) in controlling the motor symptoms of Parkinson's disease is well established, however, the impact on the non-motor symptoms (NMS) remains to be elucidated, although the growing investigative efforts are promising. This article reviews the reported data and considers the level of evidence available with regard to the effect of DBS on NMS total burden and on the cognitive, neuropsychiatric, sleep, pain, dysautonomic, and weight domains. Multiple case series suggest that DBS improves the burden of NMS by reducing prevalence, intensity, and non-motor fluctuations...
2017: NPJ Parkinson's Disease
https://www.readbyqxmd.com/read/28716515/calming-the-storm-dysautonomia-for-the-pediatrician
#5
Justin M Burton, Olga M Morozova
Dysautonomia is a potentially life-threatening syndrome seen in many different types of brain injuries. It involves paroxysmal sympathetic hyperactivity and typically includes a constellation of symptoms, including: tachycardia, tachypnea, hyperthermia, hypertension, diaphoresis, hypertonia, and/or decerebrate or decorticate posturing. It is a clinical diagnosis of exclusion. A multimodal treatment approach is necessary including environmental modifications along with pharmacotherapy. Early management can help prevent comorbidities including secondary brain injury while also improving patient outcomes...
July 14, 2017: Current Problems in Pediatric and Adolescent Health Care
https://www.readbyqxmd.com/read/28667575/animal-and-cellular-models-of-familial-dysautonomia
#6
REVIEW
Frances Lefcort, Marc Mergy, Sarah B Ohlen, Yumi Ueki, Lynn George
Since Riley and Day first described the clinical phenotype of patients with familial dysautonomia (FD) over 60 years ago, the field has made considerable progress clinically, scientifically, and translationally in treating and understanding the etiology of FD. FD is classified as a hereditary sensory and autonomic neuropathy (HSAN type III) and is both a developmental and a progressive neurodegenerative condition that results from an autosomal recessive mutation in the gene IKBKAP, also known as ELP1. FD primarily impacts the peripheral nervous system but also manifests in central nervous system disruption, especially in the retina and optic nerve...
August 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28553323/phosphatidylserine-improves-axonal-transport-by-inhibition-of-hdac-and-has-potential-in-treatment-of-neurodegenerative-diseases
#7
REVIEW
Shiran Naftelberg, Gil Ast, Eran Perlson
Familial dysautonomia (FD) is a rare children neurodegenerative disease caused due to a point mutation in the IKBKAP gene that results in decreased IKK complex-associated protein (IKAP) protein production. The disease affects mostly the dorsal root ganglion (DRG) and the sympathetic ganglion. Recently, we found that the molecular mechanisms underlying neurodegeneration in FD patients are defects in axonal transport of nerve growth factors and microtubule stability in the DRG. Neurons are highly polarized cells with very long axons...
April 2017: Neural Regeneration Research
https://www.readbyqxmd.com/read/28506086/invasive-cardiopulmonary-exercise-testing-in-the-evaluation-of-unexplained-dyspnea-insights-from-a-multidisciplinary-dyspnea-center
#8
Wei Huang, Stephen Resch, Rudolf Kf Oliveira, Barbara A Cockrill, David M Systrom, Aaron B Waxman
Background Unexplained dyspnea is a common diagnosis that often results in repeated diagnostic testing and even delayed treatments while a determination of the cause is being investigated. Through a retrospective study, we evaluated the diagnostic efficacy of a multidisciplinary dyspnea evaluation center (MDEC) using invasive cardiopulmonary exercise test to diagnose potential causes of unexplained dyspnea. Methods We reviewed the medical records of all patients referred with unexplained dyspnea to the MDEC between March 2011 and October 2014...
January 1, 2017: European Journal of Preventive Cardiology
https://www.readbyqxmd.com/read/28360997/imaging-biomarkers-in-parkinson-s-disease-and-parkinsonian-syndromes-current-and-emerging-concepts
#9
REVIEW
Usman Saeed, Jordana Compagnone, Richard I Aviv, Antonio P Strafella, Sandra E Black, Anthony E Lang, Mario Masellis
Two centuries ago in 1817, James Parkinson provided the first medical description of Parkinson's disease, later refined by Jean-Martin Charcot in the mid-to-late 19th century to include the atypical parkinsonian variants (also termed, Parkinson-plus syndromes). Today, Parkinson's disease represents the second most common neurodegenerative disorder with an estimated global prevalence of over 10 million. Conversely, atypical parkinsonian syndromes encompass a group of relatively heterogeneous disorders that may share some clinical features with Parkinson's disease, but are uncommon distinct clinicopathological diseases...
2017: Translational Neurodegeneration
https://www.readbyqxmd.com/read/28324299/fatal-familial-insomnia-clinical-aspects-and-molecular-alterations
#10
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/28318820/sarcoidosis-associated-small-fiber-neuropathy-in-a-large-cohort-clinical-aspects-and-response-to-ivig-and-anti-tnf-alpha-treatment
#11
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...
May 2017: Respiratory Medicine
https://www.readbyqxmd.com/read/28261938/mast-cell-disorders-in-ehlers-danlos-syndrome
#12
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 2017: American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
https://www.readbyqxmd.com/read/28250027/predictors-of-survival-in-progressive-supranuclear-palsy-and-multiple-system-atrophy-a-systematic-review-and-meta-analysis
#13
REVIEW
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...
May 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28128656/anesthetic-management-of-a-child-with-unspecified-mitochondrial-disease-in-an-outpatient-dental-setting
#14
REVIEW
Taylor R Gordon, Richard J Montandon
Mitochondrial disease (MD) represents a category of metabolic disorders with a wide range of symptoms across a variety of organ systems. It occurs with an incidence of greater than 1:5000 and can be difficult to specifically diagnose because of the variety of clinical presentations and multiple genomic origins. Although phenotypically variable, MD symptoms often include hypotonia, cardiac defects, dysautonomia, and metabolic dysfunction. Mitochondrial disease presents a unique challenge in terms of anesthetic management, as many anesthetic drugs suppress mitochondrial function...
2017: Anesthesia Progress
https://www.readbyqxmd.com/read/28120078/brainstem-and-autonomic-nervous-system-dysfunction-a-neurosurgical-point-of-view
#15
A Martín-Gallego, L González-García, A Carrasco-Brenes, M Segura-Fernández-Nogueras, A Delgado-Babiano, A Ros-Sanjuán, L Romero-Moreno, M Domínguez-Páez, M S Dawid-Milner, M A Arráez-Sánchez
Central autonomic control nuclei and pathways are mainly integrated within the brainstem, especially in the medulla oblongata. Lesions within these structures can lead to central dysautonomia.Central autonomic control structures can be damaged by tumors, during surgery, or by other neurosurgical pathologies. These may elicit clinical or subclinical autonomic complications that can constitute a serious clinical problem.The authors present a broad review of the central autonomic nervous system, its possible dysfunctions, and the relation between neurosurgery and this "not-well-known system"...
2017: Acta Neurochirurgica. Supplement
https://www.readbyqxmd.com/read/27847465/the-many-faces-of-elongator-in-neurodevelopment-and-disease
#16
REVIEW
Marija Kojic, Brandon Wainwright
Development of the nervous system requires a variety of cellular activities, such as proliferation, migration, axonal outgrowth and guidance and synapse formation during the differentiation of neural precursors into mature neurons. Malfunction of these highly regulated and coordinated events results in various neurological diseases. The Elongator complex is a multi-subunit complex highly conserved in eukaryotes whose function has been implicated in the majority of cellular activities underlying neurodevelopment...
2016: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/27752785/dexmedetomidine-for-refractory-adrenergic-crisis-in-familial-dysautonomia
#17
Ryan C Dillon, Jose-Alberto Palma, Christy L Spalink, Diana Altshuler, Lucy Norcliffe-Kaufmann, David Fridman, John Papadopoulos, Horacio Kaufmann
OBJECTIVE: Adrenergic crises are a cardinal feature of familial dysautonomia (FD). Traditionally, adrenergic crises have been treated with the sympatholytic agent clonidine or with benzodiazepines, which can cause excessive sedation and respiratory depression. Dexmedetomidine is a centrally-acting α 2-adrenergic agonist with greater selectivity and shorter half-life than clonidine. We evaluated the preliminary effectiveness and safety of intravenous dexmedetomidine in the treatment of refractory adrenergic crisis in patients with FD...
February 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/27547054/intestinal-ischemia-in-neonates-and-children
#18
REVIEW
Ionuţ Isaia Jeican, Gabriela Ichim, Dan Gheban
The article reviews the intestinal ischemia theme on newborn and children. The intestinal ischemia may be either acute - intestinal infarction (by vascular obstruction or by reduced mesenteric blood flow besides the occlusive mechanism), either chronic. In neonates, acute intestinal ischemia may be caused by aortic thrombosis, volvulus or hypoplastic left heart syndrome. In children, acute intestinal ischemia may be caused by fibromuscular dysplasia, volvulus, abdominal compartment syndrome, Burkitt lymphoma, dermatomyositis (by vascular obstruction) or familial dysautonomia, Addison's disease, situs inversus abdominus (intraoperative), burns, chemotherapy administration (by nonocclusive mesenteric ischemia)...
2016: Clujul Medical (1957)
https://www.readbyqxmd.com/read/27538652/case-fatality-of-adult-tetanus-in-africa-systematic-review-and-meta-analysis
#19
REVIEW
Yohannes W Woldeamanuel, Adel T Andemeskel, Kwame Kyei, Meheret W Woldeamanuel, Woubishet Woldeamanuel
INTRODUCTION: Tetanus is a continued public health neuroinfectious burden in Africa; it accounts for significant proportion of lengthy intensive care unit (ICU) and hospital admissions. OBJECTIVES: This study aimed to describe the pooled case-fatality rates of adult tetanus at African hospitals along with relevant discussions and recommendations. METHODS: A systematic review using advanced search strategies employing PubMed/MEDLINE and Web of Science inclusive of gray literature handsearch was conducted for facility-based studies on adult tetanus by combining the terms "tetanus", "Africa" spanning all previous years until January 15, 2016...
September 15, 2016: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/27527090/evaluation-of-magnetic-resonance-imaging-abnormalities-in-juvenile-onset-neuropsychiatric-systemic-lupus-erythematosus
#20
M Al-Obaidi, D Saunders, S Brown, L Ramsden, N Martin, E Moraitis, C A Pilkington, P A Brogan, D Eleftheriou
The aim of this study was to describe the abnormalities identified with conventional MRI in children with neuropsychiatric systemic lupus erythematosus (NPSLE). This was single-centre (Great Ormond Street Hospital, London) retrospective case series of patients with juvenile NPSLE seen in 2003-2013. Brain MR images of the first episode of active NPSLE were reviewed. All patients fulfilled the 1999 ACR case definitions for NPSLE syndromes. Presenting neuropsychiatric manifestations, immunological findings and treatment are reported...
October 2016: Clinical Rheumatology
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