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https://www.readbyqxmd.com/read/28351027/re-thinking-elective-single-embryo-transfer-increased-risk-of-monochorionic-twinning-a-systematic-review
#1
Margaret Dziadosz, Mark I Evans
BACKGROUND/OBJECTIVES: Multiple pregnancies have tripled in the United States over the past 3 decades. Attributed to increasing maternal age at delivery but more so assisted reproductive technological advances, an effort has been made to decrease twinning through elective single embryo transfer. We sought to review and evaluate risks of monochorionic twinning as a predictable consequence of increasing utilization of elective single embryo transfer on perinatal outcomes. Primary outcomes included twinning rates, fetal anomalies, growth, preterm birth, and mortality...
March 29, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28346744/radiopaque-uhmwpe-sublaminar-cables-for-spinal-deformity-correction-preclinical-mechanical-and-radiopacifier-leaching-assessment
#2
Alex K Roth, Karlien Boon-Ceelen, Harold Smelt, Bert van Rietbergen, Paul C Willems, Lodewijk W van Rhijn, Jacobus J Arts
Polymeric sublaminar cables have a number of advantages over metal cables in the field of spinal deformity surgery, with decreased risk of neurological injury and potential for higher correction forces as the two most predominant. However, currently available polymer cables are radiolucent, precluding postoperative radiological assessment of instrumentation stability and integrity. This study provides a preclinical assessment of a woven UHMWPE cable made with radiopaque UHMWPE fibers. Our primary goal was to determine if the addition of a radiopacifier negatively affects the mechanical properties of UHMWPE woven cables...
March 27, 2017: Journal of Biomedical Materials Research. Part B, Applied Biomaterials
https://www.readbyqxmd.com/read/28346496/overlapping-setbp1-gain-of-function-mutations-in-schinzel-giedion-syndrome-and-hematologic-malignancies
#3
Rocio Acuna-Hidalgo, Pelagia Deriziotis, Marloes Steehouwer, Christian Gilissen, Sarah A Graham, Sipko van Dam, Julie Hoover-Fong, Aida B Telegrafi, Anne Destree, Robert Smigiel, Lindsday A Lambie, Hülya Kayserili, Umut Altunoglu, Elisabetta Lapi, Maria Luisa Uzielli, Mariana Aracena, Banu G Nur, Ercan Mihci, Lilia M A Moreira, Viviane Borges Ferreira, Dafne D G Horovitz, Katia M da Rocha, Aleksandra Jezela-Stanek, Alice S Brooks, Heiko Reutter, Julie S Cohen, Ali Fatemi, Martin Smitka, Theresa A Grebe, Nataliya Di Donato, Charu Deshpande, Anthony Vandersteen, Charles Marques Lourenço, Andreas Dufke, Eva Rossier, Gwenaelle Andre, Alessandra Baumer, Careni Spencer, Julie McGaughran, Lude Franke, Joris A Veltman, Bert B A De Vries, Albert Schinzel, Simon E Fisher, Alexander Hoischen, Bregje W van Bon
Schinzel-Giedion syndrome (SGS) is a rare developmental disorder characterized by multiple malformations, severe neurological alterations and increased risk of malignancy. SGS is caused by de novo germline mutations clustering to a 12bp hotspot in exon 4 of SETBP1. Mutations in this hotspot disrupt a degron, a signal for the regulation of protein degradation, and lead to the accumulation of SETBP1 protein. Overlapping SETBP1 hotspot mutations have been observed recurrently as somatic events in leukemia. We collected clinical information of 47 SGS patients (including 26 novel cases) with germline SETBP1 mutations and of four individuals with a milder phenotype caused by de novo germline mutations adjacent to the SETBP1 hotspot...
March 27, 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28346272/influenza-in-children
#4
Janienne Kondrich, Michele Rosenthal
PURPOSE OF REVIEW: We review the current information and evidence available on the global burden of disease in the pediatric population, clinical presentation and complications, testing, treatment, and immunization. RECENT FINDINGS: In addition to multiple other risk factors for influenza complications, children with neurologic and neuromuscular disorders are significantly higher risk for serious complications. In practice, there is no lower age limit for children with influenza who can be treated with oseltamivir...
March 24, 2017: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/28345734/-restless-legs-syndrome-in-patients-diagnosed-with-attention-deficit-hyperactivity-disorder
#5
C Castano-De la Mota, N Moreno-Acero, R Losada-Del Pozo, V Soto-Insuga, A Perez-Villena, C Rodriguez-Fernandez, F Martin-Del Valle, M Pons-Rodriguez
INTRODUCTION: Restless legs syndrome (RLS) is a common neurological disease. RLS has been linked to various psychiatric disorders, especially with attention deficit hyperactivity disorder (ADHD). AIMS: The main objective was to describe the frequency of RLS in pediatric patients diagnosed with ADHD. Secondary objectives of the study were describe other sleep disorders in ADHD patients. PATIENTS AND METHODS: A multicentre prospective study was conducted in nine Spanish centers...
April 1, 2017: Revista de Neurologia
https://www.readbyqxmd.com/read/28345152/the-impact-of-seizures-on-epilepsy-outcomes-a-national-community-based-survey
#6
Colin B Josephson, Scott B Patten, Andrew Bulloch, Jeanne V A Williams, Dina Lavorato, Kirsten M Fiest, Mary Secco, Nathalie Jette
OBJECTIVE: The aim of this study was to examine the impact of seizures on persons living with epilepsy in a national, community-based setting. METHODS: The data source was the Survey of Living with Neurological Conditions in Canada (SLNCC), a cohort derived from a national population-based survey of noninstitutionalized persons aged 15 or more years. Participants had to be on a seizure drug or to have had a seizure in the past 5 years to meet the definition of active epilepsy...
March 27, 2017: Epilepsia
https://www.readbyqxmd.com/read/28344933/precision-medicine-the-golden-gate-for-detection-treatment-and-prevention-of-alzheimer-s-disease
#7
H Hampel, S E O'Bryant, J I Castrillo, C Ritchie, K Rojkova, K Broich, N Benda, R Nisticò, R A Frank, B Dubois, V Escott-Price, S Lista
During this decade, breakthrough conceptual shifts have commenced to emerge in the field of Alzheimer's disease (AD) recognizing risk factors and the non-linear dynamic continuum of complex pathophysiologies amongst a wide dimensional spectrum of multi-factorial brain proteinopathies/neurodegenerative diseases. As is the case in most fields of medicine, substantial advancements in detecting, treating and preventing AD will likely evolve from the generation and implementation of a systematic precision medicine strategy...
December 2016: Journal of Prevention of Alzheimer's Disease
https://www.readbyqxmd.com/read/28344751/management-of-critically-ill-patients-with-diabetes
#8
REVIEW
Livier Josefina Silva-Perez, Mario Alberto Benitez-Lopez, Joseph Varon, Salim Surani
Disorders of glucose homeostasis, such as stress-induced hypoglycemia and hyperglycemia, are common complications in patients in the intensive care unit. Patients with preexisting diabetes mellitus (DM) are more susceptible to hyperglycemia, as well as a higher risk from glucose overcorrection, that may results in severe hypoglycemia. In critically ill patients with DM, it is recommended to maintain a blood glucose range between 140-180 mg/dL. In neurological patients and surgical patients, tighter glycemic control (i...
March 15, 2017: World Journal of Diabetes
https://www.readbyqxmd.com/read/28344687/disseminated-pancreatic-neuroendocrine-neoplasm-nen-with-an-uncommon-localisation-in-the-central-nervous-system-a-case-report
#9
Joanna Białkowska, Agnieszka Kolasińska-Ćwikła, Dorota Mroczkowska, Mariusz Sowa, Łukasz Grabarczyk, Wojciech Maksymowicz, Andrzej Cichocki, Jarosław B Ćwikła
BACKGROUND: Neuroendocrine neoplasms (NEN) are rare neoplasms that originate from neuroendocrine cells and are characterized by the potential of hormonal activity. Approximately 70% of these tumours are located in the gastrointestinal system (GI), followed by the bronchi, endocrine glands-like C cells of the thyroid (medullary carcinoma), the parasympathetic and sympathetic system (paragangliomas, pheochromocytoma) and other very rare locations. The prevalence of cerebral metastases in neuroendocrine tumours is estimated by various authors to be approximately 1...
2017: Polish Journal of Radiology
https://www.readbyqxmd.com/read/28343251/neurological-aspects-of-chemical-and-biological-terrorism-guidelines-for-neurologists
#10
REVIEW
Harald De Cauwer, Francis J M P Somville, Marieke Joillet
This statement paper deals with the key role an neurologist plays in the management of victims of chemical warfare/terrorist attacks. Because terrorist factions have expanded the war zone creating a worldwide risk of terrorist attacks, not only limited to some conflict zones in the Middle East, neurologists in all countries/regions have to be prepared for disaster response. The scope of this paper is to provide guidelines for the neurological management of victims of chemical and biological terrorist attacks...
March 25, 2017: Acta Neurologica Belgica
https://www.readbyqxmd.com/read/28343240/childhood-angular-kyphosis-a-plea-for-involvement-of-the-pediatric-neurosurgeon
#11
E Cornips, S Koudijs, J Vles, L van Rhijn
INTRODUCTION: Childhood angular kyphosis is rare, as most children are affected by a mixed kyphotic and scoliotic deformity. Published series involving a mix of kyphosis and kyphoscoliosis, pediatric and adult, congenital and acquired cases are almost exclusively authored by orthopedic surgeons, suggesting that (pediatric) neurosurgeons are not involved. CASE SERIES: We present five cases that illustrate the spectrum of angular kyphosis, and these were treated by a multidisciplinary team including child neurologist, orthopedic surgeon, and pediatric neurosurgeon as complementary partners...
March 25, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28343220/hemorrhagic-transformations-after-thrombectomy-risk-factors-and-clinical-relevance
#12
Johannes Kaesmacher, Mirjam Kaesmacher, Christian Maegerlein, Claus Zimmer, Alexandra S Gersing, Silke Wunderlich, Benjamin Friedrich, Tobias Boeckh-Behrens, Justus F Kleine
BACKGROUND: Hemorrhagic transformation (HT) is a major complication of acute ischemic stroke, potentially associated with clinical deterioration. We attempted to identify risk factors and evaluated clinical relevance of minor and major HTs following endovascular thrombectomy (ET) in isolated middle cerebral artery (MCA) occlusions. METHODS: This is a retrospective single-center analysis of 409 patients with isolated MCA occlusion treated with ET. Patients' and procedural characteristics, severity of HT according to the European Cooperative Acute Stroke Study criteria, and clinical outcomes were analyzed...
March 25, 2017: Cerebrovascular Diseases
https://www.readbyqxmd.com/read/28340352/human-epistatic-interaction-controls-il7r-splicing-and-increases-multiple-sclerosis-risk
#13
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
#14
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
#15
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
#16
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
#17
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
#18
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
#19
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
#20
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
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