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dysautonomia review

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https://www.readbyqxmd.com/read/28360997/imaging-biomarkers-in-parkinson-s-disease-and-parkinsonian-syndromes-current-and-emerging-concepts
#1
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
#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/28318820/sarcoidosis-associated-small-fiber-neuropathy-in-a-large-cohort-clinical-aspects-and-response-to-ivig-and-anti-tnf-alpha-treatment
#3
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
#4
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/28250027/predictors-of-survival-in-progressive-supranuclear-palsy-and-multiple-system-atrophy-a-systematic-review-and-meta-analysis
#5
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/28128656/anesthetic-management-of-a-child-with-unspecified-mitochondrial-disease-in-an-outpatient-dental-setting
#6
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
#7
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
#8
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
#9
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
#10
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
#11
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
#12
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
https://www.readbyqxmd.com/read/27508210/early-indicators-of-relapses-vs-pseudorelapses-in-neuromyelitis-optica-spectrum-disorder
#13
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
https://www.readbyqxmd.com/read/27317387/familial-dysautonomia-history-genotype-phenotype-and-translational-research
#14
REVIEW
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
https://www.readbyqxmd.com/read/27293279/ross-syndrome-a-case-report-and-review-of-cases-from-india
#15
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
https://www.readbyqxmd.com/read/27235341/autoimmune-encephalitis-mimicking-sporadic-creutzfeldt-jakob-disease-a-retrospective-study
#16
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
https://www.readbyqxmd.com/read/27194968/st%C3%A3-ve-wiedemann-syndrome-update-on-clinical-and-genetic-aspects
#17
REVIEW
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
https://www.readbyqxmd.com/read/27153153/pharmacological-treatment-for-kleine-levin-syndrome
#18
REVIEW
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...
May 6, 2016: Cochrane Database of Systematic Reviews
https://www.readbyqxmd.com/read/27014566/immunomodulation-for-treatment-of-drug-and-device-refractory-gastroparesis
#19
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
https://www.readbyqxmd.com/read/26949155/electroencephalographic-patterns-during-sleep-in-children-with-chromosome-15q11-2-13-1-duplications-dup15q
#20
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
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