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https://www.readbyqxmd.com/read/29327099/-genetics-of-tremor
#1
REVIEW
G Kuhlenbäumer, F Hopfner
BACKGROUND: Tremor is a symptom of many diseases and can constitute a disease of its own: essential tremor. OBJECTIVE: The genetics of essential tremor and differential diagnosis of monogenic diseases with the symptom tremor. MATERIAL AND METHODS: Literature search and search of clinical genetics databases, e.g. OMIM, GeneReviews, MDSGene and the German Neurological Society (DGN) guidelines. RESULTS: The genetics of essential tremor remain unresolved in spite of large, adequately powered studies...
January 11, 2018: Der Nervenarzt
https://www.readbyqxmd.com/read/29325628/pharmacogenetics
#2
Jeffrey R Bishop
Pharmacogenetics is the study of how genetics influences drug treatment outcomes. Much research has been conducted to identify and characterize gene variants that impact the pharmacokinetic and pharmacodynamic aspects of medications used to treat neurologic and psychiatric disorders. This chapter reviews the current state of pharmacogenetic aspects of these treatments. Medications with supporting pharmacogenetic information in product labeling, clinical guidelines, or important mechanistic implications are discussed...
2018: Handbook of Clinical Neurology
https://www.readbyqxmd.com/read/29324959/surveillance-of-intradomiciliary-contacts-of-leprosy-cases-perspective-of-the-client-in-a-hyperendemic-municipality
#3
Helizandra Simoneti Bianchini Romanholo, Eliana Amorim de Souza, Alberto Novaes Ramos Júnior, Adélia Cileode Gomes Castelo Branco Kaiser, Ismália Oliveira da Silva, Aline Lima Brito, Cídia Vasconcellos
OBJECTIVE: To characterize approach methods for intradomiciliary contacts (IdC) of leprosy cases resident in Northern Brazil, during 2001-2012. METHOD: A cross-sectional and descriptive study in the state of Rondônia. Included IdC of leprosy cases diagnosed/reported in SINAN-Ministry of Health (MS), 2001-2012. A semi-structured instrument was applied to the IdCs, with six interventions: complete dermatological examination; complete neurological examination; BCG vaccination; instructions for return to the health unit; BCG guidance; and guidance to mobilize other contacts...
January 2018: Revista Brasileira de Enfermagem
https://www.readbyqxmd.com/read/29324936/the-impact-of-lung-perfusion-scintigraphy-in-the-emergency-management-of-patients-with-suspected-pulmonary-embolism
#4
Cristina Ferrari, Alessandra Cimino, Giacomo Bianco, Francesca Iuele, Alessandra Di Palo, Margherita Fanelli, Artor Niccoli-Asabella, Giuseppe Rubini
OBJECTIVE: Pulmonary Embolism (PE) is an emergency condition that requires immediate treatment. As the symptoms and the risk factors are nonspecific, PE differential diagnosis is often required. Even if angio-CT is considered the gold standard for PE diagnosis, the frequent allergic condition and/or chronic renal failure of patients make, in most cases, not possible the use of contrast enhancement in emergency with even more increasing use of Lung Perfusion Scintigraphy (LPS), as a simple and fast examination with no preparation/contraindication...
September 2017: Hellenic Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29324372/dislocation-of-a-cerebral-protection-device-component-during-carotid-stenting-a-case-report-of-favorable-outcome-from-conservative-management-after-failure-of-retrieval
#5
Ilaria Tocco-Tussardi, Caterina Kulyk, Vincenzo Vindigni, Giampiero Avruscio
INTRODUCTION: Cerebral-protection devices (CPDs) are a well-established system for reduction of embolic risk in carotid artery angioplasty and stenting (CAS). Although rare, adverse events with CPDs are unpredictable and can be associated with serious outcomes and iatrogenic sequelae. PRESENTATION OF CASE: We describe the unique case of dislocation of a FilterWire EX™ filter loop during right CAS. On trying to recapture the CPD filter at the end of the procedure, the filter loop suddenly detached from the guidewire and dislocated to the proximal middle cerebral artery...
December 28, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29323137/issues-with-the-specificity-of-immunological-reagents-for-nlrp3-implications-for-age-related-macular-degeneration
#6
Cassandra Kosmidou, Nikolaos E Efstathiou, Mien V Hoang, Shoji Notomi, Eleni K Konstantinou, Masayuki Hirano, Kosuke Takahashi, Daniel E Maidana, Pavlina Tsoka, Lucy Young, Evangelos S Gragoudas, Timothy W Olsen, Yuki Morizane, Joan W Miller, Demetrios G Vavvas
Contradictory data have been presented regarding the implication of the NACHT, LRR and PYD domains-containing protein 3 (NLRP3) inflammasome in age-related macular degeneration (AMD), the leading cause of vision loss in the Western world. Recognizing that antibody specificity may explain this discrepancy and in line with recent National Institutes of Health (NIH) guidelines requiring authentication of key biological resources, the specificity of anti-NLRP3 antibodies was assessed to elucidate whether non-immune RPE cells express NLRP3...
January 11, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29322259/csf-neurofilament-proteins-as-diagnostic-and-prognostic-biomarkers-for-amyotrophic-lateral-sclerosis
#7
Daniela Rossi, Paolo Volanti, Liliana Brambilla, Tiziana Colletti, Rossella Spataro, Vincenzo La Bella
Elevated cerebrospinal fluid (CSF), Neurofilament Light (NF-L) and phosphorylated Heavy (pNF-H) chain levels have been found in Amyotrophic Lateral Sclerosis (ALS), with studies reporting a correlation of both neurofilaments (NFs) with the disease progression. Here, we measured NF-L and pNF-H concentrations in the CSF of ALS patients from a single tertiary Center and investigated their relationship with disease-related variables. A total of 190 ALS patients (Bulbar, 29.9%; Spinal, 70.1%; M/F = 1.53) and 130 controls with mixed neurological diseases were recruited...
January 10, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29321106/segway%C3%A2-personal-transporter-related-injuries-a-systematic-literature-review-and-implications-for-acute-and-emergency-care
#8
Ali Pourmand, Jen Liao, Jesse M Pines, Maryann Mazer-Amirshahi
BACKGROUND: The Segway® Personal Transporter™ (SPT) is used widely as a means of transport for city sightseeing tours, law enforcement, and professionals working in large facilities and factories. METHODS: We conducted a systematic review of the literature to assess SPT-related injuries. Following the PRISMA (Preferred Reporting Items for Systematic Reviews and Meta-Analysis) guidelines, we queried PubMed from 1990 to 2017. The search terms Segway, personal transporter, and injury were used...
January 8, 2018: Journal of Emergency Medicine
https://www.readbyqxmd.com/read/29317455/improving-temporal-trends-in-survival-and-neurological-outcomes-after-out-of-hospital-cardiac-arrest
#9
Jason E Buick, Ian R Drennan, Damon C Scales, Steven C Brooks, Adams Byers, Sheldon Cheskes, Katie N Dainty, Michael Feldman, P Richard Verbeek, Cathy Zhan, Alex Kiss, Laurie J Morrison, Steve Lin
BACKGROUND: Considerable effort has gone into improving outcomes from out-of-hospital cardiac arrest (OHCA). Studies suggest that survival is improving; however, prior studies had insufficient data to pursue the relationship between markers of guideline compliance and temporal trends. The objective of the study was to evaluate trends in OHCA survival over an 8-year period that included the implementation of the 2005 and 2010 international cardiopulmonary resuscitation (CPR) guidelines...
January 2018: Circulation. Cardiovascular Quality and Outcomes
https://www.readbyqxmd.com/read/29314105/ambulatory-diagnostic-ecg-monitoring-for-syncope-and-collapse-an-assessment-of-clinical-practice-in-the-united-states
#10
David G Benditt, Wayne O Adkisson, Richard Sutton, Robin K Mears, Scott Sakaguchi
INTRODUCTION: Diagnostic ambulatory ECG (AECG) monitoring is widely used for evaluating syncope and collapse, and practice guidelines provide recommendations regarding optimal AECG device selection. However, whether physicians utilize AECGs in accordance with the pertinent guidelines is unclear. This study assessed utilization of AECG monitoring systems for syncope and collapse diagnosis by physicians in the United States. METHODS AND RESULTS: A quantitative survey was undertaken of physicians comprising multiple specialties (Emergency Room, n = 35; Primary care, n = 35; Hospitalists, n = 30; Neurologists, n = 30; non-implanting, n = 34 and implanting-Cardiologists, n = 35)...
January 4, 2018: Pacing and Clinical Electrophysiology: PACE
https://www.readbyqxmd.com/read/29305926/lower-dose-epinephrine-administration-and-out-of-hospital-cardiac-arrest-outcomes
#11
Cameron A Fisk, Michele Olsufka, Lihua Yin, Andrew M McCoy, Andrew J Latimer, Charles Maynard, Graham Nichol, Jonathan Larsen, Leonard A Cobb, Michael R Sayre
BACKGROUND: International guidelines recommend administration of 1 mg of intravenous epinephrine every 3 to 5 minutes during cardiac arrest. The optimal dose of epinephrine is not known. We evaluated the association of reduced frequency and dose of epinephrine with survival after out-of-hospital cardiac arrest (OHCA). METHODS: Included were patients with non-traumatic OHCA treated by advanced life support (ALS) providers from January 1, 2008 to June 30, 2016...
January 3, 2018: Resuscitation
https://www.readbyqxmd.com/read/29305644/mal-de-debarquement-syndrome-a-survey-on-subtypes-misdiagnoses-onset-and-associated-psychological-features
#12
V Mucci, J M Canceri, R Brown, M Dai, S Yakushin, S Watson, A Van Ombergen, V Topsakal, P H Van de Heyning, F L Wuyts, C J Browne
INTRODUCTION: Mal de Debarquement Syndrome (MdDS) is a neurological condition typically characterized by a sensation of motion, that persists longer than a month following exposure to passive motion (e.g., cruise, flight, etc.). The most common form of MdDS is motion triggered (MT). However, recently it has been acknowledged that some patients develop typical MdDS symptoms without an apparent motion trigger. These cases are identified here as spontaneous or other onset (SO) MdDS. This study aimed to address similarities and differences between the MdDS subtypes...
January 5, 2018: Journal of Neurology
https://www.readbyqxmd.com/read/29304497/predictors-of-hematological-abnormalities-in-multiple-sclerosis-patients-treated-with-fingolimod-and-dimethyl-fumarate-and-impact-of-treatment-switch-on-lymphocyte-and-leukocyte-count
#13
M Baharnoori, C T Gonzalez, A Chua, C Diaz-Cruz, B C Healy, J Stankiewicz, H L Weiner, T Chitnis
BACKGROUND: There is limited data regarding the predictors of hematological abnormalities in multiple sclerosis (MS) patients treated with dimethyl fumarate (DMF) or fingolimod (FNG), and the impact of treatment switch on lymphocyte and leukocyte count METHODS: We identified 405 patients on DMF and 300 patients on FNG (treatment duration: at least 12 month) within a large prospective study of MS patients conducted at the Partners MS Center, Brigham and Women's Hospital (CLIMB study) between Jan 2011 to Feb 2016...
December 14, 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/29303124/prevalence-and-clinical-characteristics-of-headaches-among-undergraduate-students-in-three-tertiary-institutions-in-ilorin-nigeria
#14
E O Sanya, O O Desalu, S A Aderibigbe, P M Kolo, A F Mustapha, O A Adeyanju
OBJECTIVE: Headache is a common chronic neurologic disorder with huge economic and psychosocial impact. In comparison with other neurological disorders, there is limited data on primary headache, especially from sub-Saharan Africa. This study was done to fill in the gap and provide recent information on headache among Nigerian undergraduate students. METHODOLOGY: Quota sampling was used to select students from three tertiary educational institutions within Ilorin, the capital of Kwara state...
November 2017: Nigerian Journal of Clinical Practice
https://www.readbyqxmd.com/read/29302622/challenges-in-diagnosing-normal-pressure-hydrocephalus-evaluation-of-the-diagnostic-guidelines
#15
J Andersson, M Rosell, K Kockum, L Söderström, K Laurell
Purpose: To evaluate the present diagnostic guidelines of idiopathic normal pressure hydrocephalus (iNPH) in a sample from the general population. Methods: A total of 168 individuals (93 females, 75 males), mean age 75 years (range 66-92) with and without symptoms of iNPH underwent a CT-scan of the brain, a neurological examination with assessment of the triad symptoms, i.e. gait disturbances, memory impairment and urgency incontinence. The participants were then diagnosed as "unlikely", "possible" and "probable" iNPH according to the American-European and the Japanese guidelines, respectively...
June 2017: ENeurologicalSci
https://www.readbyqxmd.com/read/29298527/a-narrative-review-of-the-clinical-application-of-pressure-reactiviy-indices-in-the-neurocritical-care-unit
#16
Stephen Copplestone, Jessie Welbourne
Pressure reactivity indices are used in clinical research as a surrogate marker of the ability of the cerebrovasculature to maintain cerebral autoregulation. The use of pressure reactivity indices in patients with neurological injury represents a potential to move away from population-based physiological targets used in guidelines to individualized physiological targets. The aim of this review is to describe the underlying principles and development of pressure reactivity indices, alongside a critique of how they have been used in clinical research, including their limitations...
January 4, 2018: British Journal of Neurosurgery
https://www.readbyqxmd.com/read/29296922/standard-measures-for-sickle-cell-disease-research-the-phenx-toolkit-sickle-cell-disease-collections
#17
James R Eckman, Kathryn L Hassell, Wayne Huggins, Ellen M Werner, Elizabeth S Klings, Robert J Adams, Julie A Panepinto, Carol M Hamilton
Standard measures and common data elements for sickle cell disease (SCD) will improve the data quality and comparability necessary for cross-study analyses and the development of guidelines that support effective treatments and interventions. In 2014, the National Institutes of Health, National Heart, Lung, and Blood Institute (NHLBI) funded an Administrative Supplement to the PhenX Toolkit (consensus measures for Phenotypes and eXposures; https://www.phenxtoolkit.org/) to identify common measures to promote data comparability across SCD research...
December 26, 2017: Blood Advances
https://www.readbyqxmd.com/read/29295830/treatment-of-severe-hyponatremia
#18
Richard H Sterns
Patients with severe (serum sodium ≤120 mEq/L), symptomatic hyponatremia can develop life-threatening or fatal complications from cerebral edema if treatment is inadequate and permanent neurologic disability from osmotic demyelination if treatment is excessive. Unfortunately, as is true of all electrolyte disturbances, there are no randomized trials to guide the treatment of this challenging disorder. Rather, therapeutic decisions rest on physiologic principles, animal models, observational studies, and single-patient reports...
January 2, 2018: Clinical Journal of the American Society of Nephrology: CJASN
https://www.readbyqxmd.com/read/29290375/prediction-of-mri-findings-including-disc-injury-and-posterior-ligamentous-complex-injury-in-neurologically-intact-thoracolumbar-burst-fractures-by-the-parameters-of-vertebral-body-damage-on-ct-scan
#19
Jie Mi, Xiao-Jiang Sun, Kai Zhang, Chang-Qing Zhao, Jie Zhao
OBJECTIVE: To formulate radiological indexes based on CT for further MRI examination to detect posterior ligamentous complex injury (PLC) or disc injury in thoracolumbar burst fractures without neurological deficit in the emergent setting. MATERIALS AND METHODS: Patients with a single thoracolumbar burst fracture and no neurological deficit were included into this study. Radiological indexes on CT included canal compromise (CC), anterior and posterior vertebral height ratio (PVH and AVH ratio), local kyphosis (LK) and regional kyphosis (RK)...
December 15, 2017: Injury
https://www.readbyqxmd.com/read/29289419/early-surgical-decompression-within-8-hours-for-traumatic-spinal-cord-injury-is-it-beneficial-a-meta-analysis
#20
Dong-Yeong Lee, Young-Jin Park, Hyun-Jung Kim, Hyeong-Sik Ahn, Sun-Chul Hwang, Dong-Hee Kim
INTRODUCTION: The aim of this study is to evaluate whether early (<8 h) surgical decompression is better in improving neurologic outcomes than late (≥8 h) surgical decompression for traumatic spinal cord injury (tSCI). METHODS: The various electronic databases were used to detect relevant articles published up until May 2016 that compared the outcomes of early versus late surgery for tSCI. Data searching, extraction, analysis, and quality assessment were performed according to Cochrane Collaboration guidelines...
December 27, 2017: Acta Orthopaedica et Traumatologica Turcica
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