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dysautonomia 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
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
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
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
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)
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
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
Remi A Kessler, Maureen A Mealy, Michael Levy
OBJECTIVE: The purpose of this study was to review cases of neuromyelitis optica spectrum disorder (NMOSD) relapses and pseudorelapses to identify early features that differentiate between them at onset of symptoms. METHODS: This was a retrospective analysis of 74 hospitalizations of patients with NMOSD who were admitted to the Johns Hopkins Hospital for workup and treatment of a presumed relapse. Standard workup included MRI and blood and urine testing for metabolic and infectious etiologies...
October 2016: Neurology® Neuroimmunology & Neuroinflammation
Lucy Norcliffe-Kaufmann, Susan A Slaugenhaupt, Horacio Kaufmann
Familial dysautonomia (FD) is a rare neurological disorder caused by a splice mutation in the IKBKAP gene. The mutation arose in the 1500s within the small Jewish founder population in Eastern Europe and became prevalent during the period of rapid population expansion within the Pale of Settlement. The carrier rate is 1:32 in Jews descending from this region. The mutation results in a tissue-specific deficiency in IKAP, a protein involved in the development and survival of neurons. Patients homozygous for the mutations are born with multiple lesions affecting mostly sensory (afferent) fibers, which leads to widespread organ dysfunction and increased mortality...
June 15, 2016: Progress in Neurobiology
Manoj Kumar Agarwala, Leni George, Harshad Parmar, Vivek Mathew
Ross syndrome is a rare dysautonomia characterized by a clinical complex of segmental anhidrosis or hypohidrosis, areflexia, and tonic pupils. A very few cases (≃50) have been reported in literature since its original description in 1958. Here, we report the case of a middle-aged homemaker from Odisha, India, who presented with complaints of segmental hypohidrosis for the past 7 years.
May 2016: Indian Journal of Dermatology
Yu Chen, Xiao-Wei Xing, Jia-Tang Zhang, Ruo-Xi Wang, Wei Zhao, Qing-Che Tan, Ruo-Zhuo Liu, Xiang-Qing Wang, Xu-Sheng Huang, Sheng-Yuan Yu
Autoimmune encephalitis associated with anti-voltage-gated potassium channel antibodies are most likely to be misdiagnosed as sporadic Creutzfeldt-Jakob disease (sCJD). Our goal was to delineate patients who were initially suspected to have CJD but were later found to have AE. We performed a retrospective clinical review of cases of individuals and made a comparison between groups of patients diagnosed with sCJD and AE. Patients who had rapidly progressing dementia and focal neurological impairment, such as aphasia, gait disturbance, visual disturbance, and depression, at onset were diagnosed with sCJD, whereas epilepsy, hyponatremia and dysautonomia were strong hints for AE...
June 15, 2016: Journal of Neuroimmunology
Débora Romeo Bertola, Rachel S Honjo, Wagner A R Baratela
Stüve-Wiedemann syndrome is a rare autosomal recessive disorder characterized by bowed long bones, joint restrictions, dysautonomia, and respiratory and feeding difficulties, leading to death in the neonatal period and infancy in several occasions. Since the first cases in 1971, much has been learned about this condition, including its molecular basis - mutations in the leukemia inhibitory factor receptor gene (LIFR) -, natural history and management possibilities. This review aims to highlight the clinical aspects, radiological features, molecular findings, and management strategies in Stüve-Wiedemann syndrome...
April 2016: Molecular Syndromology
Marcio M de Oliveira, Cristiane Conti, Gilmar F Prado
BACKGROUND: This is an updated version of the original Cochrane review, published in 2009, Issue 2.Kleine-Levin syndrome (KLS) is a rare disorder that mainly affects adolescent men. It is characterised by recurrent episodes of hypersomnia, usually accompanied by hyperphagia, cognitive and mood disturbances, abnormal behaviour, such as hypersexuality, and signs of dysautonomia.In 1990, the diagnostic criteria for Kleine-Levin syndrome were modified in the International Classification of Sleep Disorders, where KLS was defined as a syndrome comprised of recurring episodes of undue sleepiness lasting some days, which may or may not be associated with hyperphagia and abnormal behaviour...
2016: Cochrane Database of Systematic Reviews
Kaartik Soota, Archana Kedar, Yana Nikitina, Evelyn Arendale, Vetta Vedanarayanan, Thomas L Abell
OBJECTIVE: Patients with generalized autoimmune dysautonomia may also present with gastroparesis. Immune dysfunction in such patients can be evaluated using antibodies to glutamic acid decarboxylase (GAD) and full thickness biopsy of stomach. In this study, we utilize immunotherapy for treatment of drug and Gastric Electrical Stimulation (GES) resistant gastroparetic patients with evidence of neuroinflammation on full thickness gastric biopsy and had positive GAD65 autoantibodies. MATERIAL AND METHODS: We conducted a retrospective chart review of 11 female patients with drug and device resistant gastroparesis...
2016: Results in Immunology
Dimitrios Arkilo, Orrin Devinsky, Basanagoud Mudigoudar, Susana Boronat, Melanie Jennesson, Kenneth Sassower, Okeanis Eleni Vaou, Jason T Lerner, Shafali Spurling Jeste, Kadi Luchsinger, Ronald Thibert
Our objective was to define the EEG features during sleep of children with neurodevelopmental disorders due to copy number gains of 15q11-q13 (Dup15q). We retrospectively reviewed continuous EEG recordings of 42 children with Dup15q (mean age: eight years, 32 with idic15), and data collected included background activity, interictal epileptiform discharges, sleep organization, and ictal activity. Three patterns were recognized: Pattern 1: Alpha–delta sleep was noted in 14 children (33%), not associated with any clinical changes...
April 2016: Epilepsy & Behavior: E&B
Eve Chanson, Élodie Bicilli, Michel Lauxerois, Sophie Kauffmann, Russell Chabanne, François Ducray, Jérome Honnorat, Pierre Clavelou, Sarah Rosenberg
Seizures are common clinical manifestations in anti-N-methyl-d-aspartate receptor (anti-NMDA-R) encephalitis, among other neurological and psychiatric symptoms. During the course of the disease, some specific EEG patterns have been described: generalized rhythmic delta activity (GRDA) and extreme delta brush (EDB). In comatose patients, the association of these EEG abnormalities with subtle motor manifestations can suggest ongoing non-convulsive status epilepticus (NCSE). We report the case of a 28-year-old woman admitted for a clinical presentation typical of anti-NMDA-R encephalitis, which was confirmed by CSF analysis...
February 2016: Neurophysiologie Clinique, Clinical Neurophysiology
Dan Li, David J Paterson
Cyclic adenosine monophosphate (cAMP) and cyclic guanosine monophosphate (cGMP) are now recognized as important intracellular signalling molecules that modulate cardiac sympatho-vagal balance in the progression of heart disease. Recent studies have identified that a significant component of autonomic dysfunction associated with several cardiovascular pathologies resides at the end organ, and is coupled to impairment of cyclic nucleotide targeted pathways linked to abnormal intracellular calcium handling and cardiac neurotransmission...
July 15, 2016: Journal of Physiology
Elliot T Dawson, Sara E Hocker
This chapter reviews the neurologic complications of medications administered in the hospital setting, by class, introducing both common and less common side effects. Detail is devoted to the interaction between pain, analgesia, sedation, and their residual consequences. Antimicrobials are given in nearly every hospital setting, and we review their capacity to produce neurologic sequelae with special devotion to cefepime and the antiviral treatment of human immunodeficiency virus. The management of hemorrhagic stroke has become more complex with the introduction of novel oral anticoagulants, and we provide an update on what is known about reversal of the new oral anticoagulants...
April 2016: Current Neurology and Neuroscience Reports
Warren G Tourtellotte
Peripheral neuropathies are highly prevalent and are most often associated with chronic disease, side effects from chemotherapy, or toxic-metabolic abnormalities. Neuropathies are less commonly caused by genetic mutations, but studies of the normal function of mutated proteins have identified particular vulnerabilities that often implicate mitochondrial dynamics and axon transport mechanisms. Hereditary sensory and autonomic neuropathies are a group of phenotypically related diseases caused by monogenic mutations that primarily affect sympathetic and sensory neurons...
March 2016: American Journal of Pathology
Magda Dąbrowska, Michał Schinwelski, Emilia J Sitek, Anna Muraszko-Klaudel, Bogna Brockhuis, Zygmunt Jamrozik, Jarosław Sławek
Atypical parkinsonian disorders (APD) are a heterogenous group of neurodegenerative diseases such as: progressive supranuclear palsy (PSP), multiple system atrophy (MSA), cortico-basal degeneration (CBD) and dementia with Lewy bodies (DLB). In all of them core symptoms of parkinsonian syndrome are accompanied by many additional clinical features not typical for idiopathic Parkinson's disease (PD) like rapid progression, gaze palsy, apraxia, ataxia, early cognitive decline, dysautonomia and usually poor response to levodopa therapy...
2015: Neurologia i Neurochirurgia Polska
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