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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
#1
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/28717942/erratum-to-animal-and-cellular-models-of-familial-dysautonomia
#2
Frances Lefcort, Marc Mergy, Sarah B Ohlen, Yumi Ueki, Lynn George
No abstract text is available yet for this article.
July 17, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28716515/calming-the-storm-dysautonomia-for-the-pediatrician
#3
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/28707017/basic-research-and-model-systems-in-familial-dysautonomia-what-do-we-know-and-what-s-next
#4
EDITORIAL
Antonio Heras-Garvin
No abstract text is available yet for this article.
July 13, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28674865/intranasal-dexmedetomidine-for-adrenergic-crisis-in-familial-dysautonomia
#5
Christy L Spalink, Erin Barnes, Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Horacio Kaufmann
PURPOSE: To report the use of intranasal dexmedetomidine, an α2-adrenergic agonist for the acute treatment of refractory adrenergic crisis in patients with familial dysautonomia. METHODS: Case series. RESULTS: Three patients with genetically confirmed familial dysautonomia (case 1: 20-year-old male; case 2: 43-year-old male; case 3: 26-year-old female) received intranasal dexmedetomidine 2 mcg/kg, half of the dose in each nostril, for the acute treatment of adrenergic crisis...
July 3, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
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...
June 30, 2017: Clinical Autonomic Research: Official Journal of the Clinical Autonomic Research Society
https://www.readbyqxmd.com/read/28660750/urinary-manifestations-in-isaacs-s-syndrome-our-experience-in-8-cases
#7
Silvia N Gonzalez Primomo, Leandro Blas, Alicia C Bertotti, Carlos Ameri
INTRODUCTION: Isaacs's syndrome (IS), is a rare neurological disorder, characterized by sustained muscular activity, fasciculations, cramps, myokymia, excessive sweating, and occasional elevation of creatine phosphokinase (CPK) enzyme. AIM: To report our experience in patients with IS and urinary manifestations, describing clinical findings, test's results, and response to treatment. Methods An observational, retrospective analysis of patients with IS and urinary manifestations treated at German Hospital of Buenos Aires between 2001 and 2011 was done...
June 29, 2017: Neurourology and Urodynamics
https://www.readbyqxmd.com/read/28651678/latent-cognitive-phenotypes-in-de-novo-parkinson-s-disease-a-person-centered-approach
#8
Denise R LaBelle, Ryan R Walsh, Sarah J Banks
OBJECTIVES: Cognitive impairment is an important aspect of Parkinson's disease (PD), but there is considerable heterogeneity in its presentation. This investigation aims to identify and characterize latent cognitive phenotypes in early PD. METHODS: Latent class analysis, a data-driven, person-centered, cluster analysis was performed on cognitive data from the Parkinson's Progressive Markers Initiative baseline visit. This analytic method facilitates identification of naturally occurring endophenotypes...
June 27, 2017: Journal of the International Neuropsychological Society: JINS
https://www.readbyqxmd.com/read/28648835/effect-of-glp-1-receptor-agonist-on-gastrointestinal-tract-motility-and-residue-rates-as-evaluated-by-capsule-endoscopy
#9
Y Nakatani, M Maeda, M Matsumura, R Shimizu, N Banba, Y Aso, T Yasu, H Harasawa
AIM: This study evaluated the effects of a glucagon-like peptide-1 receptor agonist on gastrointestinal (GI) tract motility and residue rates by examining GI transit time and lumen using capsule endoscopy. MATERIAL AND METHODS: GI motility and lumen were assessed by capsule endoscopy before and after liraglutide administration in 14 patients with type 2 diabetes mellitus (T2DM). RESULTS: Gastric transit time in the group with diabetic neuropathy (DN) was 1:12:36±1:04:30h before liraglutide administration and 0:48:40±0:32:52h after administration (nonsignificant difference, P=0...
June 22, 2017: Diabetes & Metabolism
https://www.readbyqxmd.com/read/28592461/rbm24-promotes-u1-snrnp-recognition-of-the-mutated-5-splice-site-in-the-ikbkap-gene-of-familial-dysautonomia
#10
Kenji Ohe, Mayumi Yoshida, Akiko Nakano-Kobayashi, Motoyasu Hosokawa, Yukiya Sako, Maki Sakuma, Yukiko Okuno, Tomomi Usui, Kensuke Ninomiya, Takayuki Nojima, Naoyuki Kataoka, Masatoshi Hagiwara
The 5' splice site mutation (IVS20+6T>C) of the inhibitor of kappa light polypeptide gene enhancer in B cells, kinase complex-associated protein (IKBKAP) gene in familial dysautonomia (FD) is at the sixth intronic nucleotide of the 5' splice site. It is known to weaken U1 snRNP recognition and result in aberrantly spliced mRNA product in neuronal tissue, but normally spliced mRNA in other tissues. Aberrantly spliced IKBKAP mRNA abrogates IKK complex-associated protein (IKAP)/elongator protein 1 (ELP1) expression and results in a defect of neuronal cell development in FD...
June 7, 2017: RNA
https://www.readbyqxmd.com/read/28576852/neurocardiovascular-deficits-in-the-q175-mouse-model-of-huntington-s-disease
#11
Tamara S Cutler, Saemi Park, Dawn H Loh, Maria C Jordan, Tomohiro Yokota, Kenneth P Roos, Cristina A Ghiani, Christopher S Colwell
Cardiovascular dysautonomia as well as the deterioration of circadian rhythms are among the earliest detectable pathophysiological changes in individuals with Huntington's disease (HD). Preclinical research requires mouse models that recapitulate disease symptoms and the Q175 knock-in model offers a number of advantages but potential autonomic dysfunction has not been explored. In this study, we sought to test the dual hypotheses that cardiovascular dysautonomia can be detected early in disease progression in the Q175 model and that this dysfunction varies with the daily cycle...
June 2017: Physiological Reports
https://www.readbyqxmd.com/read/28554413/the-nonmotor-features-of-parkinson-s-disease
#12
Nataliya Titova, Mubasher A Qamar, K Ray Chaudhuri
Nonmotor symptoms (NMS) of Parkinson's disease (PD) were recognized by the great James Parkinson himself who mentioned symptoms such as sleep dysfunction, delirium, dementia, and dysautonomia, in his seminal 1817 essay, "An Essay on the Shaking Palsy" (Parkinson, 1817). In spite of the key impact of PD NMS on quality of life, there was little holistic research and awareness till the validation and use of comprehensive tools such as the NMS questionnaire, scale, and the revised version of the unified PD rating scale...
2017: International Review of Neurobiology
https://www.readbyqxmd.com/read/28553323/phosphatidylserine-improves-axonal-transport-by-inhibition-of-hdac-and-has-potential-in-treatment-of-neurodegenerative-diseases
#13
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/28550263/microglial-and-neuronal-tdp-43-pathology-in-anti-iglon5-related-tauopathy
#14
Annachiara Cagnin, Sara Mariotto, Michele Fiorini, Marina Gaule, Nicola Bonetto, Matteo Tagliapietra, Emanuele Buratti, Gianluigi Zanusso, Sergio Ferrari, Salvatore Monaco
A novel neuronal tauopathy, mainly confined to hypothalamus and brainstem tegmentum, has recently been reported in patients with autoantibodies to the neuronal cell-adhesion molecule IgLON5. We describe a patient with anti-IgLON5 syndrome, who presented with dysautonomia and sleep disorder, followed by subacute dementia. Postmortem brain examination disclosed neuronal tau pathology prevailing in the hippocampus, amygdala, and locus coeruleus, in addition to microglial/neuronal TDP-43 pathology, with overexpression of aberrantly phosphorylated forms and neurotoxic truncated fragments, in basal ganglia, nucleus basalis, thalamus, and midbrain...
2017: Journal of Alzheimer's Disease: JAD
https://www.readbyqxmd.com/read/28549077/clinical-criteria-for-subtyping-parkinson-s-disease-biomarkers-and-longitudinal-progression
#15
Seyed-Mohammad Fereshtehnejad, Yashar Zeighami, Alain Dagher, Ronald B Postuma
Parkinson's disease varies widely in clinical manifestations, course of progression and biomarker profiles from person to person. Identification of distinct Parkinson's disease subtypes is of great priority to illuminate underlying pathophysiology, predict progression and develop more efficient personalized care approaches. There is currently no clear way to define and divide subtypes in Parkinson's disease. Using data from the Parkinson's Progression Markers Initiative, we aimed to identify distinct subgroups via cluster analysis of a comprehensive dataset at baseline (i...
May 25, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28530322/-oro-dento-facial-manifestations-in-patients-with-familial-dysautonomia
#16
REVIEW
Eliyahu Mass
The oro-dento-facial features and dysfunctions of children with hereditary sensory and autonomic neuropathy type III (HSAN III), known as familial dysautonomia (FD) or Riley-Day syndrome, were first described in the scientific literature in 1949. They include: dental trauma, dental and soft tissue selfmutilation, normal dental age, normal sequence and timing of eruption and exfoliation of teeth, smaller tooth size, different and disproportional tooth components, normal alveolar bone height, small jaws, mild crowding and malocclusion...
August 2016: Harefuah
https://www.readbyqxmd.com/read/28527262/-autoimmune-encephalitis-associated-to-antibodies-against-the-n-methyl-d-aspartate-receptor-report-of-two-cases
#17
José Bustos, Yasmin Sánchez, Jhon Medina, Rommy Olivieri, Julián Mojica, Johan Ortiz
Anti-N-methyl-D-aspartate receptor encephalitis is a neurological syndrome that is more common in young women and is often associated with ovarian teratoma. It is characterized by acute general unspecific symptoms that evolve to neurological deterioration, psychosis and seizures. In its more advanced stage it is associated with abnormal movements and dysautonomia.We report two cases in women of 23 and 12 years of age. Given its low incidence, we present the clinical exercise that led to their diagnoses and the treatment options employed...
April 1, 2017: Biomédica: Revista del Instituto Nacional de Salud
https://www.readbyqxmd.com/read/28525326/short-term-heart-rate-variability-in-dogs-with-sick-sinus-syndrome-or-chronic-mitral-valve-disease-as-compared-to-healthy-controls
#18
Sz Bogucki, A Noszczyk-Nowak
Heart rate variability is an established risk factor for mortality in both healthy dogs and animals with heart failure. The aim of this study was to compare short-term heart rate variability (ST-HRV) parameters from 60-min electrocardiograms in dogs with sick sinus syndrome (SSS, n=20) or chronic mitral valve disease (CMVD, n=20) and healthy controls (n=50), and to verify the clinical application of ST-HRV analysis. The study groups differed significantly in terms of both time - and frequency- domain ST-HRV parameters...
March 28, 2017: Polish Journal of Veterinary Sciences
https://www.readbyqxmd.com/read/28521050/sudden-unexpected-death-during-sleep-in-familial-dysautonomia-a-case-control-study
#19
Jose-Alberto Palma, Lucy Norcliffe-Kaufmann, Miguel A Perez, Christy L Spalink, Horacio Kaufmann
Study Objectives: Sudden unexpected death during sleep (SUDS) is the most common cause of death in patients with familial dysautonomia, an autosomal recessive disease characterized by sensory and autonomic dysfunction. It remains unknown what causes SUDS in these patients and who is at highest risk. We tested the hypothesis that SUDS in FD is linked to sleep-disordered breathing. Methods: We retrospectively identified patients with familial dysautonomia who died suddenly and unexpectedly during sleep and had undergone polysomnography within the 18-month period prior to death...
May 18, 2017: Sleep
https://www.readbyqxmd.com/read/28506086/invasive-cardiopulmonary-exercise-testing-in-the-evaluation-of-unexplained-dyspnea-insights-from-a-multidisciplinary-dyspnea-center
#20
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
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