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https://www.readbyqxmd.com/read/28340352/human-epistatic-interaction-controls-il7r-splicing-and-increases-multiple-sclerosis-risk
#1
Gaddiel Galarza-Muñoz, Farren B S Briggs, Irina Evsyukova, Geraldine Schott-Lerner, Edward M Kennedy, Tinashe Nyanhete, Liuyang Wang, Laura Bergamaschi, Steven G Widen, Georgia D Tomaras, Dennis C Ko, Shelton S Bradrick, Lisa F Barcellos, Simon G Gregory, Mariano A Garcia-Blanco
Multiple sclerosis (MS) is an autoimmune disorder where T cells attack neurons in the central nervous system (CNS) leading to demyelination and neurological deficits. A driver of increased MS risk is the soluble form of the interleukin-7 receptor alpha chain gene (sIL7R) produced by alternative splicing of IL7R exon 6. Here, we identified the RNA helicase DDX39B as a potent activator of this exon and consequently a repressor of sIL7R, and we found strong genetic association of DDX39B with MS risk. Indeed, we showed that a genetic variant in the 5' UTR of DDX39B reduces translation of DDX39B mRNAs and increases MS risk...
March 23, 2017: Cell
https://www.readbyqxmd.com/read/28340308/a-preliminary-investigation-on-the-effect-of-extracorporeal-shock-wave-therapy-as-a-treatment-for-neurogenic-heterotopic-ossification-following-traumatic-brain-injury-part-i-effects-on-pain
#2
J E Reznik, E Biros, A C Lamont, Y Sacher, O Kibrik, S Milanese, S Gordon, M P Galea
INTRODUCTION: Neurogenic heterotopic ossification (NHO) is a complication of a neurological injury following traumatic brain injury (TBI) and may be present around major synovial joints. It is often accompanied by severe pain, which may lead to limitation in activities of daily living. Currently, a common intervention for NHO is surgery, which has been reported to carry many additional risks. This study was designed to assess the effect of extracorporeal shock wave therapy (ESWT) on pain in patients with TBI with chronic NHO...
March 24, 2017: Brain Injury: [BI]
https://www.readbyqxmd.com/read/28340102/impact-of-unrestricted-access-to-pregabalin-on-the-use-of-opioids-and-other-cns-active-medications-a-cross-sectional-time-series-analysis
#3
Herman Kwok, Wayne Khuu, Kimberly Fernandes, Diana Martins, Mina Tadrous, Samantha Singh, David N Juurlink, Tara Gomes
Objective. : Access to pregabalin via Ontario's public drug insurance program was expanded to an unrestricted model on April 1, 2013, from a prior authorization model. This study aims to identify the effect of expanded access on the rate of pregabalin use by publicly insured persons and to assess the characteristics of new patients initiating pregabalin following this expanded access. Methods. : We conducted a cross-sectional time series analysis using the linked health administrative records of residents of Ontario, Canada, with public drug coverage who were dispensed a prescription for pregabalin between April 1, 2006, and December 31, 2014...
March 6, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28340041/bleeding-complications-in-patients-undergoing-intrathecal-drug-delivery-system-implantation
#4
Nafisseh S Warner, Markus A Bendel, Matthew A Warner, Jacob J Strand, Halena M Gazelka, Bryan C Hoelzer, William D Mauck, Tim J Lamer, Daryl J Kor, Susan M Moeschler
Introduction.:  Intrathecal drug delivery systems (IDDSs) have dramatically improved analgesia and the functional status of cancer patients and those with chronic pain states. However, given the close proximity to the neuraxis and frequent concomitant use of antiplatelet or anticoagulant medications, this intervention is not without risk. The goal of this investigation was to determine the incidence of bleeding complications following IDDS placement. Methods.:  This is a retrospective review from 2005 through 2014 of adult patients undergoing IDDS implantation or revision at a tertiary care center...
March 3, 2017: Pain Medicine: the Official Journal of the American Academy of Pain Medicine
https://www.readbyqxmd.com/read/28339329/morbidity-and-mortality-associated-with-meningioma-after-cranial-radiotherapy-a-report-from-the-childhood-cancer-survivor-study
#5
Daniel C Bowers, Chaya S Moskowitz, Joanne F Chou, Claire M Mazewski, Joseph P Neglia, Gregory T Armstrong, Wendy M Leisenring, Leslie L Robison, Kevin C Oeffinger
Purpose Little is known about neurologic morbidity attributable to cranial radiotherapy (CRT) -associated meningiomas. Materials and Methods From 4,221 survivors exposed to CRT in the Childhood Cancer Survivor Study, a diagnosis of meningioma and onset of neurologic sequelae were ascertained. Cox proportional hazards regression was used to estimate hazard ratios (HR) and 95% CIs to evaluate the factors associated with neurologic sequelae after subsequent meningioma. Results One hundred ninety-nine meningiomas were identified among 169 participants...
March 24, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/28338532/is-severe-hypercalcemia-immediately-life-threatening
#6
Camille Guimard, Eric Batard, Frédéric Lavainne, David Trewick
OBJECTIVE: Severe hypercalcemia is often considered an emergency because of a potential risk of cardiac arrest or coma. However, there is little evidence to support this. The aim of our study was to assess whether severe hypercalcemia (Ca>4 mmol/l or 16 mg/dl) was associated with immediately life-threatening cardiac arrhythmias or neurological complications in patients admitted to the Emergency Department (ED). METHODS: A retrospective observational study was carried out over a 5-year period (2008-2012)...
March 23, 2017: European Journal of Emergency Medicine: Official Journal of the European Society for Emergency Medicine
https://www.readbyqxmd.com/read/28337122/cerebrospinal-fluid-cortisol-mediates-brain-derived-neurotrophic-factor-relationships-to-mortality-after-severe-tbi-a-prospective-cohort-study
#7
Miranda J Munoz, Raj G Kumar, Byung-Mo Oh, Yvette P Conley, Zhensheng Wang, Michelle D Failla, Amy K Wagner
Distinct regulatory signaling mechanisms exist between cortisol and brain derived neurotrophic factor (BDNF) that may influence secondary injury cascades associated with traumatic brain injury (TBI) and predict outcome. We investigated concurrent CSF BDNF and cortisol relationships in 117 patients sampled days 0-6 after severe TBI while accounting for BDNF genetics and age. We also determined associations between CSF BDNF and cortisol with 6-month mortality. BDNF variants, rs6265 and rs7124442, were used to create a gene risk score (GRS) in reference to previously published hypothesized risk for mortality in "younger patients" (<48 years) and hypothesized BDNF production/secretion capacity with these variants...
2017: Frontiers in Molecular Neuroscience
https://www.readbyqxmd.com/read/28336205/andersen-tawil-syndrome-clinical-presentation-and-predictors-of-symptomatic-arrhythmias-possible-role-of-polymorphisms-k897t-in-kcnh2-and-h558r-in-scn5a-gene
#8
Michalina Krych, Elżbieta Katarzyna Biernacka, Joanna Ponińska, Piotr Kukla, Artur Filipecki, Robert Gajda, Can Hasdemir, Charles Antzelevitch, Agnieszka Kosiec, Małgorzata Szperl, Rafał Płoski, Maria Trusz-Gluza, Katarzyna Mizia-Stec, Piotr Hoffman
BACKGROUND: Andersen-Tawil syndrome (ATS) is rare channelopathy caused by KCNJ2 mutation and probably KCNJ5. It is characterized by arrhythmias, neurological symptoms, and dysmorphic features. The present study retrospectively examined the characteristics of 11 unrelated families with ATS. METHODS: This study consisted of 11 probands positive for KCNJ2 variants and 33 family members (mean age 30.0±17.3 years, female n=31). Additional genetic screening of 3 LQTS genes (KCNQ1, KCNH2, SCN5A) was performed in 9 families...
March 20, 2017: Journal of Cardiology
https://www.readbyqxmd.com/read/28336156/pediatric-arterial-ischemic-stroke-epidemiology-risk-factors-and-management
#9
Ryan J Felling, Lisa R Sun, Emily C Maxwell, Neil Goldenberg, Timothy Bernard
Pediatric arterial ischemic stroke (AIS) is an uncommon but important cause of neurologic morbidity in neonates and children, with consequences including hemiparesis, intellectual disabilities, and epilepsy. The causes of pediatric AIS are unique to those typically associated with stroke in adults. Familiarity with the risk factors for AIS in children will help with efficient diagnosis, which is unfortunately frequently delayed. Here we review the epidemiology and risk factors for AIS in neonates and children...
March 7, 2017: Blood Cells, Molecules & Diseases
https://www.readbyqxmd.com/read/28335792/can-incontinence-be-cured-a-systematic-review-of-cure-rates
#10
Rob Riemsma, Suzanne Hagen, Ruth Kirschner-Hermanns, Christine Norton, Helle Wijk, Karl-Erik Andersson, Christopher Chapple, Julian Spinks, Adrian Wagg, Edward Hutt, Kate Misso, Sohan Deshpande, Jos Kleijnen, Ian Milsom
BACKGROUND: Incontinence constitutes a major health problem affecting millions of people worldwide. The present study aims to assess cure rates from treating urinary (UI) or fecal incontinence (FI) and the number of people who may remain dependent on containment strategies. METHODS: Medline, Embase, PsycINFO, Cochrane Central Register of Controlled Trials (CENTRAL), CINAHL, and PEDro were searched from January 2005 to June 2015. Supplementary searches included conference abstracts and trials registers (2013-2015)...
March 24, 2017: BMC Medicine
https://www.readbyqxmd.com/read/28334917/late-onset-cystic-brain-necrosis-after-radiotherapy-for-nasopharyngeal-carcinoma
#11
Wenli Fang, Beibei Gu, Xiuna Jing, Songhua Xiao, Shengnuo Fan, Wang Liao, Yuqiu Zheng, Jun Liu
Background: Cystic brain radionecrosis (CBRN) is a late-onset devastating complication after radiotherapy for head and neck neoplasms, especially for nasopharyngeal carcinoma (NPC). To our knowledge, it has scarcely been reported. Methods: We retrospectively reviewed all available medical records of NPC patients with CBRN who were treated with surgical intervention. Results: Sixteen patients were identified in this study and the mean latency of CBRN was 9...
February 24, 2017: Japanese Journal of Clinical Oncology
https://www.readbyqxmd.com/read/28334860/genetic-regulation-of-gene-expression-in-the-epileptic-human-hippocampus
#12
Nasir Mirza, Richard Appleton, Sasha Burn, Daniel du Plessis, Roderick Duncan, Jibril Osman Farah, Bjarke Feenstra, Anders Hviid, Vivek Josan, Rajiv Mohanraj, Arif Shukralla, Graeme J Sills, Anthony G Marson, Munir Pirmohamed
Epilepsy is a serious and common neurological disorder. Expression quantitative loci (eQTL) analysis is a vital aid for the identification and interpretation of disease-risk loci. Many eQTLs operate in a tissue- and condition-specific manner. We have performed the first genome-wide cis-eQTL analysis of human hippocampal tissue to include not only normal (n = 22) but also epileptic (n = 22) samples. We demonstrate that disease-associated variants from an epilepsy GWAS meta-analysis and a febrile seizures (FS) GWAS are significantly more enriched with epilepsy-eQTLs than with normal hippocampal eQTLs from two larger independent published studies...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28334687/neurocognitive-status-in-patients-with-newly-diagnosed-brain-tumors-in-good-neurological-condition-the-impact-of-tumor-type-volume-and-location
#13
Philipp Hendrix, Elisa Hans, Christoph J Griessenauer, Andreas Simgen, Joachim Oertel, Julia Karbach
OBJECTIVE: Neurocognitive function is of great importance in patients with brain tumors. Even patients in good neurological condition may suffer from neurocognitive dysfunction that affects their daily living. The purpose of the present study was to identify risk factors for neurocognitive dysfunction in patients suffering from common supratentorial brain tumors with minor neurological deficits. METHODS: A prospective study evaluating neurocognitive dysfunction in patients with a newly-diagnosed brain tumor in good neurological condition was performed at a major German academic institution...
March 18, 2017: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/28334392/validation-of-the-nih-toolbox-in-individuals-with-neurologic-disorders
#14
N E Carlozzi, S Goodnight, K B Casaletto, A Goldsmith, R K Heaton, A W K Wong, C M Baum, R Gershon, A W Heinemann, D S Tulsky
Objective: Individuals with spinal cord injury (SCI), traumatic brain injury (TBI), and stroke experience a variety of neurologically related deficits across multiple domains of function. The NIH Toolbox for the Assessment of Neurological and Behavioral Function (NIHTB) examines motor, sensation, cognition, and emotional functioning. The purpose of this paper is to establish the validity of the NIHTB in individuals with neurologic conditions. Methods: Community-dwelling individuals with SCI (n = 209), TBI (n = 184), or stroke (n = 211) completed the NIHTB...
March 18, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28334240/the-use-of-rbans-among-inpatient-forensic-monolingual-spanish-speakers
#15
Cynthia Aguilar, Kenny A Karyadi, Dominique I Kinney, Stephen R Nitch
Objective: The Repeatable Battery for the Assessment of Neuropsychological Status (RBANS) has been shown to be an effective screener for detecting neurocognitive impairments in English speaking forensic psychiatric inpatients, but no studies have examined whether the RBANS would have the same utility among monolingual Spanish speaking inpatients. This study sought to examine RBANS performance, as well as risk factors (i.e., educational, neurological, and medical) influencing RBANS performance, in that particular population...
February 18, 2017: Archives of Clinical Neuropsychology: the Official Journal of the National Academy of Neuropsychologists
https://www.readbyqxmd.com/read/28332157/systematic-overdosing-of-oxa-and-cloxacillin-in-severe-infections-treated-in-icu-risk-factors-and-side-effects
#16
Mathilde Neuville, Najoua El-Helali, Eric Magalhaes, Aguila Radjou, Roland Smonig, Jean-François Soubirou, Guillaume Voiriot, Alban Le Monnier, Stéphane Ruckly, Lila Bouadma, Romain Sonneville, Jean-François Timsit, Bruno Mourvillier
BACKGROUND: Oxacillin and cloxacillin are the most frequently used penicillins for the treatment of severe methicillin-susceptible Staphylococcus aureus infections in intensive care units (ICUs), especially endocarditis. International recommendations do not suggest any adaptation of the dosage in case of renal impairment. We wanted to assess the risk factors for overdosing in ICU and the related observed side effects. METHODS: All patients with a therapeutic drug monitoring of oxa- or cloxacillin between 2008 and 2014 were included...
December 2017: Annals of Intensive Care
https://www.readbyqxmd.com/read/28332012/-frequency-of-falls-among-clients-of-home-care-services-the-importance-of-care-related-and-social-risk-factors
#17
A Rommel, J Kottner, R Suhr, N Lahmann
BACKGROUND: Among the elderly falls frequently result in injuries, increase the need for long-term care and pose a challenge for the quality assurance in nursing care. We describe the frequency and risk factors of falls among care-dependent persons using home care services in Germany. METHODS: The participants of the study "Nursing-related health problems in home care" (n = 880) were recruited based on a list of the officially accredited nursing services. Data collection followed a standardized study protocol...
March 22, 2017: Zeitschrift Für Gerontologie und Geriatrie
https://www.readbyqxmd.com/read/28331979/clinical-and-radiological-factors-related-to-the-presence-of-motor-deficit-in-lumbar-disc-prolapse-a-prospective-analysis-of-70-consecutive-cases-with-neurological-deficit
#18
Vibhu Krishnan, Shanmuganathan Rajasekaran, Siddharth N Aiyer, Rishi Kanna, Ajoy Prasad Shetty
PURPOSE: To analyse the clinic-radiological factors associated with neurological deficit following lumbar disc herniation. METHODS: A prospective, cross-sectional study was performed in 140 cases of micro-discectomy following lumbar disc herniation. Group 1 included 70 consecutive patients with motor deficit and group 2 (controls) included 70 patients with intact neurology. Motor deficit was defined as the occurrence of motor power ≤3/5 in L2-S1 myotomes. Multiple clinical and radiological parameters were studied between the two groups...
March 22, 2017: European Spine Journal
https://www.readbyqxmd.com/read/28331457/visual-loss-retinal-hemorrhages-and-optic-disc-edema-resulting-from-thiamine-deficiency-following-bariatric-surgery-complicated-by-prolonged-vomiting
#19
Andrew W Lawton, Nicholas E Frisard
BACKGROUND: Vision loss resulting from thiamine deficiency is a recognized complication of bariatric surgery. Most patients with such vision loss have Wernicke encephalopathy with characteristic changes seen on neuroimaging. Other patients may have retinal hemorrhages, optic disc edema, and peripheral neuropathy without Wernicke encephalopathy. The risk for thiamine deficiency is potentiated by the presence of prolonged vomiting. CASE REPORT: A 37-year-old female presented with abrupt onset of vision loss and peripheral neuropathy following bariatric surgery...
2017: Ochsner Journal
https://www.readbyqxmd.com/read/28331352/skin-disorders-in-parkinson-s-disease-potential-biomarkers-and-risk-factors
#20
REVIEW
Astrid-Helene Ravn, Jacob P Thyssen, Alexander Egeberg
Parkinson's disease (PD) is one of the most common neurodegenerative disorders, characterized by a symptom triad comprising resting tremor, rigidity, and akinesia. In addition, non-motor symptoms of PD are well recognized and often precede the overt motor manifestations. Cutaneous manifestations as markers of PD have long been discussed, and cumulative evidence shows an increased prevalence of certain dermatological disorders in PD. Seborrheic dermatitis is considered to occur as a premotor feature of PD referable to dysregulation of the autonomic nervous system...
2017: Clinical, Cosmetic and Investigational Dermatology
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