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This page shows you the most recent publications within this specialty of the MedWorm directory. This is page number 14.

The AhR agonist VAF347 augments retinoic acid-induced differentiation in leukemia cells
Publication date: Available online 8 April 2015 Source:FEBS Open Bio Author(s): Christopher N. Ibabao , Rodica P. Bunaciu , Deanna M.W. Schaefer , Andrew Yen In binary cell-fate decisions, driving one lineage and suppressing the other are conjoined. We have previously reported that aryl hydrocarbon receptor (AhR) promotes retinoic acid (RA)-induced granulocytic differentiation of lineage bipotent HL-60 myeloblastic leukemia cells. VAF347, an AhR agonist, impairs the development of CD14+CD11b+ monocytes from granulo-monocytic (GM) stage precursors. We thus hypothesized that VAF347 propels RA-induced granulocytic different...
Source: FEBS Open Bio - April 8, 2015 Category: Molecular Biology Source Type: research

Low alveolar and bronchial nitric oxide in severe uncomplicated obesity
Conclusions Respiratory NO output is decreased in severe uncomplicated obesity for the reduction of both large/central airway maximal NO flux and alveolar NO concentration. The pathophysiological relevance of airway NO abnormalities in severe obese phenotype remains to be investigated. (Source: Obesity Research and Clinical Practice)
Source: Obesity Research and Clinical Practice - April 8, 2015 Category: Eating Disorders and Weight Management Source Type: research

ECG-derived respiration methods: Adapted ICA and PCA
Respiration rate and volume are important measures in detection and treatment of many common diseases such as cardiac disorders, asthma, obstructive pulmonary diseases, and sleep apnea. Outside controlled laboratory environments, however, the usage of spirometers and respiratory effort belts is faced with challenges such as interfering with the subjects’ natural respiration, limited measurement capacity, and motion artifacts. Respiration modulates several bioelectric and biomechanical signals such as electrocardiography (ECG) [1], impedance plethysmography [2] and thorax acceleration [3]. (Source: Medical Engineering and Physics)
Source: Medical Engineering and Physics - April 8, 2015 Category: Biomedical Engineering Authors: Suvi Tiinanen, Kai Noponen, Mikko Tulppo, Antti Kiviniemi, Tapio Seppänen Tags: Technical note Source Type: research

Th2‐cytokines impair innate immune responses to rhinovirus in respiratory epithelial cells
ConclusionsIL‐4 and IL‐13, through inhibition of TLR3 expression and signalling (IRF‐3), impair immune response to RV‐16 infection. These data suggest that Th2 conditions increase susceptibility to infections and identify pharmacological approaches with potential to restore impaired immune response in these conditions.This article is protected by copyright. All rights reserved. (Source: Allergy)
Source: Allergy - April 8, 2015 Category: Allergy & Immunology Authors: Marco Contoli, Kazuhiro Ito, Anna Padovani, Donatella Poletti, Brunilda Marku, Michael R. Edwards, Luminita A. Stanciu, Giulia Gnesini, Antonio Pastore, Antonio Spanevello, Paolo Morelli, Sebastian L. Johnston, Gaetano Caramori, Alberto Papi Tags: Original Article Experimental Allergy and Immunology Source Type: research

Experimental pulmonary fibrosis in rats with chronic gastric acid reflux esophagitis
To elucidate the association between gastric acid reflux and respiratory diseases by studying the histological changes of the lower airway in rats with chronic acid reflux esophagitis. (Source: Auris, Nasus, Larynx)
Source: Auris, Nasus, Larynx - April 8, 2015 Category: ENT & OMF Authors: Rintaro Shimazu, Shigehisa Aoki, Yuichiro Kuratomi Source Type: research

Transfusion‐associated dyspnoea – shadow or substance?
New Zealand Blood Service Haemovigilance uses International Society of Blood Transfusion/International Haemovigilance Network definitions to categorize transfusion reactions (TR). Transfusion‐associated dyspnoea (TAD) is a category for TR with respiratory features (TRRF) that do not fit definitive entities. TRRF, including TAD, are clinically significant. TR classified as TAD were reviewed. We found that many TAD may have been transfusion‐associated circulatory overload. Better information in TR reports and refining TR diagnostic criteria may result in less misclassification of TRRF. TAD may represent mild, atypical or...
Source: Vox Sanguinis - April 8, 2015 Category: Hematology Authors: K. G. Badami, E. Joliffe, M. Stephens Tags: Short Report Source Type: research

The health and economic burden of air pollution
Many epidemiological data support the association between ambient air pollution and all-cause mortality and morbidity, mainly from respiratory and cardiovascular diseases, particularly in the elderly, infants, pregnant women and people with comorbidities. In addition, air pollution has been related to higher risks for lung cancer and allergic diseases. The World Health Organization (WHO) estimated that in the year 2012 ambient air pollution was responsible for 3.7 million annual deaths, representing 6.7% of all-cause deaths and tripling the 2008 estimates [1]. (Source: The American Journal of Medicine)
Source: The American Journal of Medicine - April 8, 2015 Category: Journals (General) Authors: Massimo Franchini, Pier Mannuccio Mannucci, Sergio Harari, Federico Pontoni, Edoardo Croci Tags: Commentary Source Type: research

Identification of vitamin C transporters in the human airways: a cross-sectional in vivo study
Conclusions This experimental study is the first to demonstrate protein expression of GLUT2 and SVCT2 in the human bronchial epithelium. A negative correlation between SVCT2-positive goblet cells and bronchial RTLF vitamin C concentrations suggests a possible role for goblet cells in regulating the extracellular vitamin C pool. (Source: BMJ Open)
Source: BMJ Open - April 8, 2015 Category: Journals (General) Authors: Larsson, N., Rankin, G. D., Bicer, E. M., Roos-Engstrand, E., Pourazar, J., Blomberg, A., Mudway, I. S., Behndig, A. F. Tags: Open access, Nutrition and metabolism, Respiratory medicine Research Source Type: research

Everolimus long-term safety and efficacy in patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): final analysis of a phase 2 study (I6-2A)
CONCLUSIONS: This analysis confirms the long-term prevention of SEGA growth using everolimus. Safety and tolerability of everolimus improved over 5 years. Study Supported by: Novartis Pharmaceuticals CorporationDisclosure: Dr. Franz has received personal compensation for activities with Novartis and Lundbeck Research USA, Inc. Dr. Care has nothing to disclose. Dr. Holland has nothing to disclose. Dr. Agricola has nothing to disclose. Dr. Tudor has nothing to disclose. Dr. Berkowitz has received personal compensation for activities with Novartis. Dr. Miao has received personal compensation for activities with Novartis as an...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Franz, D., Care, M., Holland-Bouley, K., Agricola, K., Tudor, C., Berkowitz, N., Miao, S., Peyrard, S., Krueger, D. Tags: Future Therapies: How We Will Be Treating, Preventing, and Curing Epilepsy in the Year 2025 Data Blitz Presentations Source Type: research

A Single-Center, Randomized, Double-Blind, Placebo-Controlled, Six-Month Clinical Trial Followed by an Open-Label Extension to Evaluate the Safety, Tolerability and Clinical Endpoint Responsiveness of the Phosphodiesterase Type 4 (PDE4) Inhibitor Ibudilast (MN-166) in Subjects with Amyotrophic Lateral Sclerosis (ALS) - STEP-IBUDILAST-ALS-DB-OLE-1 (I8-1B)
CONCLUSIONS: Interim evaluation of the primary objective-safety/tolerability and secondary objective-clinical endpoint responsiveness of MN-166 60 mg/day versus placebo administered for six months with riluzole in subjects with ALS will be presented for the first 30 patients. Study Supported by: Medicinova and Carolinas ALS Research FundDisclosure: Dr. Brooks has received personal compensation for activities with Biogen Idec, Avanir Pharmaceuticals, Acorda Therapeutics, Cytokinetics, Synapse, and the National Institute of Neurological Disorders and Stroke. Dr. Bravver has nothing to disclose. Dr. Sanjak has nothing to disc...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Brooks, B., Bravver, E., Sanjak, M., Langford, V., Lary, C., Alwan, M., Nemeth, J., Russo, P., Smith, N., Lucas, N., Nichols, M., Belcher, S., Wright, K., Ward, A., Holsten, S., Fischer, M., Bockenek, W., Desai, U., Lindblom, S. C., Pacicco, T., Matsuda, Tags: Advances in ALS and Other Motor Neuron Diseases Data Blitz Presentations Source Type: research

AAV9-mediated gene therapy in a SMARD1 mouse model (PL1.003)
CONCLUSIONS:Our data support the translational potential of AAV mediated gene therapies for SMARD1, opening the path for AAV9-mediated therapy in human clinical trials. Study Supported by: Italian Ministry of Health GR-2010-2309229 to M.N.Disclosure: Dr. Nizzardo has nothing to disclose. Dr. Simone has nothing to disclose. Dr. Rizzo has nothing to disclose. Dr. Salani has nothing to disclose. Dr. Ulzi has nothing to disclose. Dr. Dametti has nothing to disclose. Dr. Rinchetti has nothing to disclose. Dr. Del Bo has nothing to disclose. Dr. Kaspar stands to receive license fee payments from Milo Biotechnology Corporation. D...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Nizzardo, M., Simone, C., Rizzo, F., Salani, S., Ulzi, G., Dametti, S., Rinchetti, P., Del Bo, R., Kaspar, B., Foust, K., Bresolin, N., Comi, G., Corti, S. Tags: Contemporary Clinical Issues Plenary Session Source Type: research

Baseline Autonomic Dysfunction Relates to Cognitive Empathy Impairment in Behavioral Variant Frontotemporal Dementia (P1.230)
CONCLUSIONS: In bvFTD, there are deficits in baseline sympathetic and parasympathetic tone. While sympathetic deficits may dampen patients’ responsivity to salient socioemotional cues, parasympathetic deficits may impede physiological downregulation and hinder socioemotional engagement and empathy in bvFTD.Disclosure: Dr. Sturm has nothing to disclose. Dr. Hua has nothing to disclose. Dr. Lwi has nothing to disclose. Dr. Rankin has nothing to disclose. Dr. Rosen has nothing to disclose. Dr. Miller has received personal compensation in an editorial capacity for Cambridge University Press, Guilford Publications, Inc., ...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Sturm, V., Hua, A., Lwi, S., Rankin, K., Rosen, H., Miller, B., Levenson, R., Seeley, W. Tags: Aging, Dementia, Cognitive, and Behavioral Neurology: Frontotemporal Degenerations: Cognition and Behavior Source Type: research

Acute Autonomic and Sensory Neuropathy: A Case Report (P1.275)
CONCLUSIONS: The presence of acute autonomic and sensory deficits with preserved muscle strength confirmed the diagnosis of AASN. Despite possibly having an underlying immune-mediated mechanism, AASN cases are rarely diagnosed. A literature search for case or series studies returned 28 articles only. Milder forms of AASN could remain under-diagnosed.Disclosure: Dr. Gutierrez has nothing to disclose. Dr. Palma has received personal compensation for activities with Lundbeck Research USA, Inc. as a consultant. Dr. Vishwanath has nothing to disclose. Dr. Kaufmann has received personal compensation from Chelsea Therapeutics as ...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Gutierrez, J., Palma, J.-A., Vishwanath, V., Kaufmann, H. Tags: Autonomic Disorders: Autonomic Neuropathies and Postural Tachycardia Syndrome Source Type: research

Autonomic Dysfunction in Guillain Barre Syndrome: development of a Risk Score Scale (P1.278)
CONCLUSIONS: Our risk score scale allows us to precisely predict those patients who will develop AD. However, more studies are necessary to confirm its external validity. Study Supported by: Raul Carrea Institute for Neurological Research (FLENI)Disclosure: Dr. Wilken has nothing to disclose. Dr. Farez has received personal compensation for activities with Merck Serono. Dr. Carpani has nothing to disclose. Dr. Barroso has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Wilken, M., Farez, M., Carpani, F., Barroso, F. A. Tags: Autonomic Disorders: Autonomic Neuropathies and Postural Tachycardia Syndrome Source Type: research

Active standing reveals subtle cardiac autonomic dysfunction in patients with traumatic brain injury (P1.286)
Conclusions: While supine, sympathetic activity was increased in TBI-patients. Upon standing, TBI-patients did not adequately augment sympathetic and withdraw parasympathetic cardiovascular activity. The correlation of GCS-scores with autonomic parameters upon standing suggests an increased risk of cardiovascular instability with increasing TBI-severity. Acknowledgement: The study was partially funded by the International-Brain-Research-Foundation, IBRF, Flanders, NJ, USA.Disclosure: Dr. Hilz has received personal compensation for activities with Genzyme and Pfizer Inc. as a speaker and/or consultant. Dr. Jörg has not...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Hilz, M., Jorg, M., Intravooth, T., Hosl, K., Koehn, J. Tags: Autonomic Disorders: Other Source Type: research

Non-invasive Vagus Nerve Stimulator (gammaCore(R)) Was Not Associated With Meaningful Cardiovascular Adverse Effects (P1.292)
Conclusions: Non-invasive VNS treatment had no clinically meaningful effect on CV function, as abnormal ECG events were transient and benign. Supported by electroCore, LLC Disclosure: Dr. Engel has received compensation for activities with Depomed, Allergan, and electroCore LLC as a speaker and/or advisor. Dr. Blake has received personal compensation for activities with electroCore, LLC as an employee. Dr. Liebler has received personal compensation for activities with electroCore LLC as an employee. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Rubenstein Engel, E., Blake, J., Liebler, E. Tags: Headache I Source Type: research

Amifampridine phosphate (FirdapseTM) is safe and effective in a pivotal Phase 3 trial in LEMS patients. (PL2.001)
Conclusion: The treatment with FirdapseTM achieved statistical significance for both coprimary end-points and one of two secondary end-points. Long-term safety of Firdapse TM is being studied in an Expanded Access Program.Disclosure: Dr. Oh has nothing to disclose. Dr. Gorodetzky has received personal compensation for activities with Catalyst Pharmaceuticals as an employee. He is an employee of Catalyst, (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Oh, S., Gorodetzky, MD, PhD, C., Winship, D. Tags: Clinical Trials Plenary Session Source Type: research

Idebenone Reduces Loss of Respiratory Function in Duchenne Muscular Dystrophy - Outcome of a Phase III Double Blind, Randomised, Placebo-Controlled Trial (DELOS) (PL2.003)
Conclusions: The data showed that Idebenone was safe and well tolerated, significantly reduced loss of respiratory function, and represents a new treatment option for patients with DMD. Funding: Study supported by Santhera Pharmaceuticals.Disclosure: Dr. Buyse has received personal compensation for activities with Santhera Pharmaceuticals as a consultant. Dr. Voit has received personal compensation for activities with Prosensa. Dr. Schara has nothing to disclose. Dr. Verschuuren has nothing to disclose. Dr. D'Angelo has nothing to disclose. Dr. Bernert has nothing to disclose. Dr. Cuisset has nothing to disclose. Dr. Finke...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Buyse, G., Voit, T., Schara, U., Verschuuren, J., D'Angelo, M., Bernert, G., Cuisset, J.-M., Finkel, R., Goemans, N., McDonald, C., Rummey, C., Meier, T. Tags: Clinical Trials Plenary Session Source Type: research

Mutations in MEGF10 in a patient presenting with late onset myopathy and respiratory distress. (P2.041)
CONCLUSIONS: Our patient has many features of those described in early onset EMARDD, including respiratory distress, areflexia and midline palate ridge. The later onset and milder phenotype in our patient could be due to residual MEGF10 function or could suggest a broader phenotypic spectrum than previously recognized. Given our findings, it may be worthwhile to pursue further evaluation of MEGF10 in patients with late onset myopathy and respiratory compromise.Disclosure: Dr. Chahin has nothing to disclose. Dr. Selcen has nothing to disclose. Dr. Roche has nothing to disclose. Dr. Weck has nothing to disclose. Dr. Wilhelms...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Chahin, N., Selcen, D., Roche, M., Weck, K., Wilhelmsen, K., Evans, J., Berg, J. Tags: Muscle Disease: Genetics, Pathogenesis, and Pathology Source Type: research

Screening of CHCHD10 in an Italian cohort of ALS/ALS-FTD patients (P2.051)
CONCLUSIONS This study confirms the modest but not negligible incidence of CHCHD10 mutations also in Italian ALS/ALS-FTD sporadic patients. The incidence of this gene in our cohort was slightly lower compared to recent reports (1.4[percnt] versus 2.6[percnt]). All the mutations so far reported lie in a conserved region of the exon 2. Muscle mitochondrial abnormalities were observed in a patient of our cohort but they do not seem a peculiar feature of CHCHD10 pathology. Further studies are required to address the role of CHCHD10 in motor neuron disease.Disclosure: Dr. Riboldi has nothing to disclose. Dr. Ronchi has nothing ...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Riboldi, G., Ronchi, D., Del Bo, R., Ticozzi, N., Scarlato, M., Galimberti, D., Del Menico, B., Brajkovic, S., Corti, S., Silani, V., Bresolin, N., Comi, G. Tags: ALS: Genetics and Clinical Outcomes Source Type: research

Chronological Process of Cardiac Sympathetic Function in Patients with Amyotrophic Lateral Sclerosis (P2.065)
CONCLUSIONS: These results suggested that some patients with ALS at diagnosis have cardiac sympathetic hyperactivity and the percentage of ALS patients with cardiac sympathetic hyperactivity increase gradually. These patients may experience chronic cardiac sympathetic hyperactivity, which is associated with sudden cardiac death and stress-induced cardiomyopathy. Increased WR in cardiac I-123-MIBG scintigraphy at the time of diagnosis may be a predictive factor in patients with ALS.Disclosure: Dr. Tanaka has nothing to disclose. Dr. Yamada has nothing to disclose. Dr. Koumura has nothing to disclose. Dr. Hayashi has nothing...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Tanaka, Y., Yamada, M., Koumura, A., Hayashi, Y., Kimura, A., Inuzuka, T. Tags: ALS and Motor Neuron Disease Source Type: research

Recurrent Guillain Barre Syndrome- A report of three cases with clinical electrophysiological and CSF profile (P2.070)
Conclusion: Recurrence of GBS can happen at any time after the first episode. Age at onset, severity of episode, CSF profile and electrophysiology cannot predict the possibility for recurrence. The recurrent GBS does not require to be precipitated by a prodrome and it can be severe with reduced response to immunomodulatory treatment.Disclosure: Dr. Almadani has nothing to disclose. Dr. Alboudi has nothing to disclose. Dr. Alrukn has nothing to disclose. Dr. Sarathchandran has nothing to disclose. Dr. Inshasi has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Almadani, A., Alboudi, A., Alrukn, S., Sarathchandran, P., Inshasi, J. Tags: Neurological Consequences of Autoimmune Disease Source Type: research

A Case of Neuro-Behcet's Disease Presenting With Central Neurogenic Hyperventilation (P2.076)
CONCLUSIONS: This case is remarkable for several reasons: (1) Our patient had an oral ulceration but this came late in the course and only after her other neurological symptoms; (2) She did not have genital ulcerations, skin lesions, or skin pathergy; (3) Uveitis is the most frequent ocular manifestation of Behcet’s disease. Retinal detachment has been well described but it is uncommon; (4) Neuro-Behcet’s disease is rare occurring in 10-20[percnt] of patients with Behcet’s disease. Typically this develops many years after the diagnosis of Behcet’s; (5) The most common presentation of Neuro-Behcet&rs...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Alkhachroum, A., Saeed, S., Kaur, J., Shams, T., De Georgia, M. Tags: Neurological Consequences of Autoimmune Disease Source Type: research

Sudden Adult Death Syndrome: An Uncommon or Simply Unrecognised Clinical Entity in Young, Asymptomatic Adults with m.3243A>G Disease? (P2.100)
Conclusion: Our findings suggest SADS is not uncommon and highlights the importance of in-depth family tracing in known m.3243A>G family pedigrees; in addition to the need for a comprehensive cardiac screening programme. Given the devastating nature of SADS and the frequent prevalence of this mtDNA point mutation, we suggest that exclusion of m.3243A>G should be considered in all cases of SADS.Disclosure: Dr. Gorman has nothing to disclose. Dr. Ng has nothing to disclose. Dr. Lax has nothing to disclose. Dr. Alston has nothing to disclose. Dr. Schaefer has nothing to disclose. Dr. Radunovic has nothing to disclose. D...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Gorman, G., Ng, Y. S., Lax, N., Alston, C., Schaefer, A., Radunovic, A., Alhakim, A., Bourke, J., Taylor, R., McFarland, R., Turnbull, D. Tags: Neurogenetics and Ataxia Source Type: research

Unusual presentation of a not so rare disease: implications for the differential diagnosis of generalized dystonia (P2.115)
Conclusions Generalized dystonia is a diagnostic challenge because of its evolution in time and multiple etiologies. Despite the resemblance of isolated or familial dystonia, these two patients illustrate the need for careful reevaluation and stress the importance of exploring the past medical and family history. We believe that SCA3 should be considered in the differential diagnosis of dystonia, particularly in areas where the disease is relatively frequent. supported by fapespDisclosure: Dr. Piovesana has nothing to disclose. Dr. Torres has nothing to disclose. Dr. Azevedo has nothing to disclose. Dr. Nunes has nothing t...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Piovesana, L., Torres, F., Azevedo, P., Nunes, M., Amaral, T., Rosa, M., Franca, Jr., M., Lopes-Cendes, I., D'Abreu, A. Tags: Movement Disorders: Ataxias Source Type: research

ATP1A3-Related Disorders: A Broadening of the Phenotypic and Genotypic Presentation (P2.141)
CONCLUSIONS: A breadth of observed clinical features indicates central nervous system involvement in ATP1A3-related disorders. The phenotypic and genetic presentation of ATP1A3-related disorders continues to broaden. Study Supported by:NINDS 5R01NS058949-04Disclosure: Dr. Brashear has received personal compensation for activities with Allergan and Concerta as a consultant. Dr. Brashear has received royalty payments from books. Dr. Brashear has received research support from Ipsen, Merz, Allergan and NINDS. Dr. Cook has nothing to disclose. Dr. Snively has nothing to disclose. Dr. Sweadner has received personal compensation...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Brashear, A., Cook, J., Snively, B., Sweadner, K., Ozelius, L. Tags: Movement Disorders: Genetics Source Type: research

22q11.2 Deletion Syndrome Presenting as Parkinson Disease (P2.144)
CONCLUSIONS: This case illustrates that individuals with 22q11.2 deletion syndrome without major congenital heart defects or cleft lip or palate may not be diagnosed until much later in life and early-onset PD may be part of their presentation. Study Supported by:Disclosure: Dr. Rehman has nothing to disclose. Dr. Dhamija has nothing to disclose. Dr. Barrett has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Rehman, A., Dhamija, R., Barrett, M. Tags: Movement Disorders: Genetics Source Type: research

Early-onset cerebellar ataxia due to novel mutations in ACO2 (P2.224)
CONCLUSIONS: Defect in mitochondrial aconitase was associated with an infantile neurodegenerative disorder affecting cerebellum and retina. We report one case of aconitase deficiency with milder phenotype confined to cerebellum, thus suggesting that aconitase mutation must be considered in differential diagnosis of childhood-onset cerebellar ataxias, even when retinal involvement is not present.Disclosure: Dr. Barca has nothing to disclose. Dr. Neil has nothing to disclose. Dr. Naini has nothing to disclose. Dr. De Vivo has received personal compensation for activities with Isis Pharmaceuticals as a consultant. Dr. DiMauro...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Barca, E., Neil, H., Naini, A., De Vivo, D., DiMauro, S. Tags: Child Neurology and Developmental Neurology: Genetics Source Type: research

Everolimus long-term safety and efficacy in patients with subependymal giant cell astrocytoma (SEGA) associated with tuberous sclerosis complex (TSC): final analysis of a phase 2 study (P2.234)
CONCLUSIONS: This analysis confirms the long-term prevention of SEGA growth using everolimus. Safety and tolerability of everolimus improved over 5 years. Study Supported by: Novartis Pharmaceuticals CorporationDisclosure: Dr. Franz has received personal compensation for activities with Novartis and Lundbeck Research USA, Inc. Dr. Care has nothing to disclose. Dr. Holland has nothing to disclose. Dr. Agricola has nothing to disclose. Dr. Tudor has nothing to disclose. Dr. Berkowitz has received personal compensation for activities with Novartis. Dr. Miao has received personal compensation for activities with Novartis as an...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Franz, D., Care, M., Holland-Bouley, K., Agricola, K., Tudor, C., Berkowitz, N., Miao, S., Peyrard, S., Krueger, D. Tags: Child Neurology and Developmental Neurology: Genetics Source Type: research

Two novel compound heterozygous mutations in ACAD9 in a patient with infantile-onset hypertrophic cardiomyopathy, hypotonia, and lactic acidosis. (P2.241)
Conclusions: Since the first identification of complex I deficiency due to ACAD9 mutations in 2010, 15 patients have been described. Clinical presentation ranges from severe fatal infantile forms with hypertrophic cardiomyopathy to mild encephalomyopathy. Here we describe two novel mutations in ACAD9 associated with complex I deficiency and a fatal infantile phenotype. This report confirms the clinical heterogeneity of ACAD9 mutations and its importance as complex I assembly factor.Disclosure: Dr. Emmanuele has nothing to disclose. Dr. Wasserstein has nothing to disclose. Dr. Pang has nothing to disclose. Dr. Krishna has n...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Emmanuele, V., Wasserstein, M., Pang, J., Krishna, S., Tanji, K., Nagy, P., Hirano, M. Tags: Child Neurology and Developmental Neurology: Genetics Source Type: research

Polysomnographic assessment of sleep disorders in rural areas of low- and middle-income countries. A feasibility study in Atahualpa (rural coastal Ecuador). (P2.330)
CONCLUSIONS: Sleep disorders are prevalent in this asymptomatic random sample from a rural community. High-quality sleep research is possible in rural areas of LMIC and may help enhance population awareness on the importance of these conditions as major determinants of health. Study Supported by: This study was supported by an unrestricted grant from Universidad Espiritu Santo-Ecuador, and Mayo Clinic.Disclosure: Dr. Castillo has nothing to disclose. Dr. Lawson has nothing to disclose. Dr. Shimelise-Chamblin has nothing to disclose. Dr. Phelan has nothing to disclose. Dr. Cusick has nothing to disclose. Dr. Gruen has nothi...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Castillo, P., Lawson, M., Shimelise-Chamblin, B., Phelan, K., Cusick, E., Gruen, J., Zambrano, M., Del Brutto, O. Tags: Global Neurology Source Type: research

On what type of ICH patient do neurologists order EEG on? (P3.079)
Conclusions: Many neurologists believe that infection can lower seizure threshold. Our findings bring into question whether SIRS has the potential to lower the seizure threshold. Further research is needed to explore these associations.Disclosure: Dr. Gadpaille has nothing to disclose. Dr. Boehme has nothing to disclose. Dr. Albright has nothing to disclose. Dr. Sands has nothing to disclose. Dr. Shiue has nothing to disclose. Dr. Harrigan has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Gadpaille, A., Boehme, A., Albright, K., Sands, K., Shiue, H., Harrigan, M. Tags: Cerebrovascular Disease and Interventional Neurology: Hemorrhagic and Ischemic Stroke Source Type: research

The Prevalence of Admission Leukocytosis and Systemic Inflammatory Response Syndrome (SIRS) in Intracerebral hemorrhage (ICH) Patients and Its Association with Primary Infection. (P3.103)
Conclusions:Less than half of ICH patients with WBCp24 have positive Cx7. This is despite the over-whelming majority meeting SIRS criteria. WBCp24 may therefore be more often an indicative of acute inflammatory response to ICH than primary infection. Large-scale studies are needed to determine the impact of SIRS and leukocytosis on outcome in ICH patients.Disclosure: Dr. Hafeez has nothing to disclose. Dr. Zha has nothing to disclose. Dr. Grose has nothing to disclose. Dr. Mutgi has nothing to disclose. Dr. Behrouz has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Hafeez, S., Zha, A., Grose, N., Mutgi, S., Behrouz, R. Tags: Cerebrovascular Disease and Interventional Neurology: Intracerebral Hemorrhage Source Type: research

Acute reversible toxic leukoencephalopathy due to the chemotherapeutic agent folfox in a patient with negative IVS14+1G>A mutation in the DPD (dihydropyrimidine dehydrogenase) gene (P3.142)
CONCLUSIONS: We describe a folfox induced acute reversible toxic syndrome with a unique acute leukoencephalopathy with prominent involvement of the corticospinal tracts. Although our patient was negative for common mutation, the above clinical presentation could be due to a different mutation in the DPD gene. Our case report importantly illustrates that one has to be aware and recognize the development of an acute toxic syndrome with the use of folfox, even in the absence of common mutation in DPD gene. Prompt recognition and the cessation of chemotherapy is critical in order to engender recovery and avoid a potentially fa...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Molyneaux, B., Nattanmai Chandrasekaran, P. Tags: Neuro-oncology: CNS Metastases and Other Neurologic Complications of Cancer Source Type: research

A retrospective analysis of and proposed framework for palliative care discussions in patients with multiple system atrophy (P3.312)
CONCLUSIONS: This study underscores the need for a systematic approach to advanced care planning and palliative care discussions in patients living with MSA. We propose a framework for advance care planning and palliative care discussions in MSA. Study Supported by: No funding was received for this study.Disclosure: Dr. Dayal has nothing to disclose. Dr. Gofton has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Dayal, A., Gofton, T. Tags: Pain and Palliative Care Source Type: research

Long-term Safety of Fingolimod: An Interim Analysis of the LONGTERMS Cohort (S4.006)
CONCLUSIONS: The well-characterized safety profile of fingolimod was confirmed in long term treatment. This long term follow up did not raise safety or tolerability concerns against fingolimod as long-term therapy for patients with relapsing remitting MS. Study Supported by: Novartis Pharma AG.Disclosure: Dr. Cohen has received personal compensation for activities with Biogen Idec, Eli Lilly, Novartis, and Vaccinex as a consultant and/or speaker. Dr. von Rosenstiel has received personal compensation for activities with Novartis as an employee. Dr. Gottschalk has received personal compensation for activities with Novartis a...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Cohen, J., Von Rosenstiel, P., Gottschalk, R., Pradhan, A., Zhang, Y., Kappos, L. Tags: Clinical Trial Outcomes in Multiple Sclerosis Source Type: research

Unusual Association of Acute Motor and Sensory Axonal Polyneuropathy (AMSAN) With EBV in the Absence of a Preceding Illness: A Case Report (P4.055)
Conclusion: We are reporting a very uncommon association between AMSAN and EBV infection in the United States. Physicians should be aware about the possibility of GBS even in the absence of both, typical presentation and preceding illness.Disclosure: Dr. Hassan has nothing to disclose. Dr. Boddu has nothing to disclose. Dr. Hussaini has nothing to disclose. Dr. Gupta has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Hassan, A., Boddu, P., Hussaini, A., Gupta, R. Tags: MS and CNS Inflammatory Diseases: CNS Inflammatory Diseases and Differential Diagnosis Source Type: research

Diagnostic and Therapeutic Management of Non-Traumatic Acute Myelopathy based on Clinical Experience with 66 Cases. (P4.072)
Conclusions: In our series there was a remarkably high percentage of inflammatory cases and a high incidence of debut with pain, which may help us to prevent delayed diagnosis in possible new cases. Both the cerebrospinal fluid analysis (previous to mega-doses of steroids) and an early MRI allowed etiologic diagnosis in most cases.Disclosure: Dr. PALAZON has nothing to disclose. Dr. Carreon Guarnizo has nothing to disclose. Dr. Hernandez Clares has nothing to disclose. Dr. Salgado has nothing to disclose. Dr. Jimenez Veiga has nothing to disclose. Dr. MARTIN has nothing to disclose. Dr. Jose has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Palazon, B., Carreon Guarnizo, E., Hernandez Clares, R., Salgado, G., Jimenez Veiga, J., Martin, J., Meca La Llana, J. Tags: MS and CNS Inflammatory Diseases: CNS Inflammatory Diseases and Differential Diagnosis Source Type: research

Effects of Automed Sputum Aspirating Device for the Patients With Congenital Muscular Dystrophy Using TPPV (P4.116)
CONCLUSIONS: The automated sputum aspirating device adequately supports the quality of life of TPPV patients and caregivers and reduces expenses for manual suctioning. Study Supported by: This study was supported by grants from the National Hospital Organization.Disclosure: Dr. Fukudome has nothing to disclose. Dr. Matsuo has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Fukudome, T., Matsuo, H. Tags: Neuromuscular Disease: Health Services and Outcome Measures Source Type: research

Patient Reported Quality of Life Measures in Limb-Girdle Muscular Dystrophy: Correlation with Clinical Outcomes (P4.118)
Conclusion: To date, there has not been confirmation of clinical endpoints that correlate to patient reported outcomes in LGMD. This study shows initial evidence that the INQoL and ACTIVLIM may be useful measures for future clinical trials.Disclosure: Dr. Duong has nothing to disclose. Dr. Tesi Rocha has nothing to disclose. Dr. Gordish-Dressman has nothing to disclose. Dr. Morgenroth has nothing to disclose. Dr. Leshner has received personal compensation for activities with Genzyme as a speaker and/or consultant. Dr. Sparks has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Duong, T., Tesi Rocha, C., Gordish-Dressman, H., Morgenroth, L., Leshner, R., Sparks, S. Tags: Neuromuscular Disease: Health Services and Outcome Measures Source Type: research

A description of pain in amyotrophic lateral sclerosis (P4.121)
Discussion: Pain is common in patients with ALS. It is predominantly proximal, and, on average, moderate in severity and interference with daily life. Although most participants judged their pain control to be adequate, there were concerns about their pain management. The study highlights the need for further study and for the development of guidelines for treatment of pain in ALS.Disclosure: Dr. Stephens has nothing to disclose. Dr. Walsh has nothing to disclose. Dr. Raheja has nothing to disclose. Dr. Simmons has received personal compensation for activities with Cytokinetics, Neuralstem, and Guidepoint Global as a consu...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Stephens, H., Walsh, S., Raheja, D., Simmons, Z. Tags: Neuromuscular Disease: Health Services and Outcome Measures Source Type: research

Diaphragm Ultrasound: A Potential Outcome Measure in Amyotrophic Lateral Sclerosis (P4.122)
CONCLUSIONS:This pilot study suggests that diaphragmatic ultrasound is a useful non invasive method of evaluating respiratory function in patients with ALS. Relevance of this tool in clinical practice is unclear. Further studies aimed at proving reproducibility and changes with progression are needed in order to use diaphragm ultrasound as an outcome measure in ALS.Disclosure: Dr. Karwa has nothing to disclose. Dr. Malek has nothing to disclose. Dr. Stickler has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Karwa, K., Malek, A., Stickler, D. Tags: Neuromuscular Disease: Health Services and Outcome Measures Source Type: research

Feasibility study of the use of telemedicine in the care of ALS patients. (P4.127)
CONCLUSIONS: Telemedicine using a hybrid approach combining store and forward with videoconference appears to be a feasible method of multidisciplinary care for ALS patients that will allow improved access to care. Study Supported by: The Bitner-Plante ALS Clinic Initiative is funded by The ALS Association Florida Chapter and The State of Florida Department of HealthDisclosure: Dr. Pulley has received personal compensation for activities with Walgreens as a consultant. Dr. Berger has nothing to disclose. Dr. Hodges has nothing to disclose. Dr. Brittain has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Pulley, M., Berger, A., Hodges, W., Brittain, R. Tags: ALS: Health Services and Outcomes Measures Source Type: research

Models of ALS Disease Onset and Progression: Insights from the Pre-fALS Study (P4.133)
CONCLUSIONS: These observations suggest that, though initial weakness and functional impairment is typically focal, early clinical/subclinical manifestations are often multifocal or even diffuse, with the underlying propagation of disease and appearance of weakness reflected by a biphasic kinetic of functional decline.Disclosure: Dr. Benatar has received personal compensation for activities with Eli Lilly, Biogen Idec, and Asubio Pharmaceuticals as a consultant. Dr. Carlile has nothing to disclose. Dr. Reyes has nothing to disclose. Dr. Hussain has nothing to disclose. Dr. Garcia has nothing to disclose. Dr. Andersen has n...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Benatar, M., Carlile, R., Reyes, E., Hussain, S., Garcia, N., Andersen, P., Stanislaw, C., Wuu, J. Tags: ALS: Health Services and Outcomes Measures Source Type: research

Intravascular Lymphoma Masquerading as Neuromyelitis Optica Spectrum Disorder: An Atypical Presentation (P4.164)
CONCLUSIONS: This is an unusual presentation of IVLBCL initially presenting as NMO spectrum disorder with a longitudinally extensive cord lesion. Disease progression later included extensive cerebral infarctions and cortical necrosis. Diagnosis requires tissue biopsy, which is often difficult in critically ill patients. Random skin biopsy reaches a sensitivity of 71.4[percnt] and may provide an early diagnosis in patients with aggressive, idiopathic CNS disease and suspected IVLBCL.Disclosure: Dr. Hupman has nothing to disclose. Dr. Singer has received personal compensation for activities with Lundbeck Research USA, Inc., ...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Hupman, C., Singer, C. Tags: Neurological Consequences of Medical Disease Source Type: research

Unusual case of motor neuron disease as a paraneoplastic process (P4.230)
CONCLUSIONS: MND as a paraneoplastic process is a difficult diagnosis to establish with certainty. In our patient, neurologic symptoms heralded the recurrence of breast cancer although the co existence may be circumstantial. It is important to consider a paraneoplastic process as an etiology in cancer patients since it can be potentially treated with a good outcome. Disclosure: Dr. Pillainayagam has nothing to disclose. Dr. Mella has nothing to disclose. Dr. Johnson has nothing to disclose. Dr. Woodman has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Pillainayagam, C., Mella, D., Johnson, J., Woodman, K. Tags: Neuro-oncology: Paraneoplastic Disorders Source Type: research

Predictors of Poor Outcome in Bacterial Meningitis: Retrospective Analysis of Nationwide Inpatient Sample (P5.046)
CONCLUSIONS: In this retrospective study, every decade increase in age, teaching hospital status and development of complications like hydrocephalus, ischemic stroke, seizures, intracranial abscess and respiratory failure were predictors of poor outcome. Every calendar year increase was a negative predictor of poor outcome. Study Supported by:Disclosure: Dr. Dharaiya has nothing to disclose. Dr. Modi has nothing to disclose. Dr. Maraka has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Dharaiya, D., Modi, S., Maraka, S. Tags: Neuroepidemiology: Headache, Global Health, and Infectious Disease Source Type: research

Cluster of Acute Flaccid Paralysis and Cranial Nerve Dysfunction in Children Temporally Associated with an Enterovirus D68 Outbreak in Colorado (P5.048)
CONCLUSIONS: Recovery to date has been poor for this cohort of patients despite treatment with a variety of therapies. Though causality must be proven, this first geographically and temporally defined cluster of AFP and cranial nerve dysfunction in children associated with an outbreak of EV-D68 respiratory illness suggests the possibility of a link between EV-D68 and severe neurologic damage in children.Disclosure: Dr. Schreiner stands to receive personal compensation for activities with Teva Neuroscience. Dr. Messacar has nothing to disclose. Dr. Maloney has nothing to disclose. Dr. Wallace has nothing to disclose. Dr. Lu...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Schreiner, T., Messacar, K., Maloney, J., Wallace, A., Ludke, J., Dominguez, S. Tags: Neuroepidemiology: Headache, Global Health, and Infectious Disease Source Type: research

Mortality Predictors in Bacterial Meningitis Patients who developed Hydrocephalus (P5.050)
CONCLUSIONS: In this retrospective analysis, we found that every decade increase in age, ischemic stroke, respiratory failure and requirement of ventriculostomy were significant predictors of mortality in patients of bacterial meningitis who developed hydrocephalus. Study Supported by:Disclosure: Dr. Irshad has nothing to disclose. Dr. Modi has nothing to disclose. Dr. Naqvi has nothing to disclose. Dr. Dharaiya has nothing to disclose. (Source: Neurology)
Source: Neurology - April 8, 2015 Category: Neurology Authors: Irshad, K., Modi, S., Naqvi, I., Dharaiya, D. Tags: Neuroepidemiology: Headache, Global Health, and Infectious Disease Source Type: research

Progression to Clinically Meaningful Changes in ALSFRS-R Bulbar and Fine Motor Domains is Faster in Bulbar Onset and in Limb Onset Amyotrophic Lateral Sclerosis Patients Respectively (P5.051)
CONCLUSIONS: As expected, bulbar and limb-onset patients differed for survival, gender, baseline age, ALSFRS-R domains, but had similar baseline total ALSFRS-R, suggesting that total ALSFRS-R may hide important phenotypic differences within a diverse patient population. ALSFRS-R domains analysis revealed faster clinically meaningful progression in bulbar domain in bulbar-onset and in fine-motor domain in limb-onset, confirming different disease progression patterns in these patient populations. Additional studies of ALSFRS-R domains may further guide patient stratification and highlight patient reported outcomes importance...
Source: Neurology - April 8, 2015 Category: Neurology Authors: Ratti, E., Berry, J., Vangel, M., Macklin, E., Schoenfeld, D., Cudkowicz, M. Tags: Biomarkers of Neuromuscular Disease Source Type: research