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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/28339329/morbidity-and-mortality-associated-with-meningioma-after-cranial-radiotherapy-a-report-from-the-childhood-cancer-survivor-study
#2
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/28338570/a-case-of-all-developing-posterior-reversible-encephalopathy-secondary-to-hyponatremia
#3
Nilgun Eroglu, Aysenur Bahadir, Erol Erduran
Posterior reversible encephalopathy syndrome (PRES), may be due to different causes. It may develop secondary to hypertension, renal decompensation, electrolyte imbalance, and chemotherapeutic drugs. We describe a case of acute lymphoblastic leukemia in which PRES developed secondary to hyponatremia despite being normotensive during receipt of chemotherapy. Magnetic resonance imaging findings were suggestive of PRES. Partial diffusion restriction was observed in lesions in the bilateral occipitoparietal regions and the cerebellum...
March 23, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28338439/stereotactic-radiosurgery-in-the-treatment-of-parasellar-meningiomas-long-term-volumetric-evaluation
#4
Or Cohen-Inbar, Athreya Tata, Shayan Moosa, Cheng-Chia Lee, Jason P Sheehan
OBJECTIVE Parasellar meningiomas tend to invade the suprasellar, cavernous sinus, and petroclival regions, encroaching on adjacent neurovascular structures. As such, they prove difficult to safely and completely resect. Stereotactic radiosurgery (SRS) has played a central role in the treatment of parasellar meningiomas. Evaluation of tumor control rates at this location using simplified single-dimension measurements may prove misleading. The authors report the influence of SRS treatment parameters and the timing and volumetric changes of benign WHO Grade I parasellar meningiomas after SRS on long-term outcome...
March 24, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28337761/depression-and-cognitive-deficits-as-long-term-consequences-of-thrombotic-thrombocytopenic-purpura
#5
Tanja Falter, Veronique Schmitt, Stephanie Herold, Veronika Weyer, Charis von Auer, Stefanie Wagner, Gudrun Hefner, Manfred Beutel, Karl Lackner, Bernhard Lämmle, Inge Scharrer
BACKGROUND: Thrombotic thrombocytopenic purpura (TTP) is an acute life-threatening microangiopathy with a tendency of relapse characterized by consumptive thrombocytopenia, microangiopathic hemolytic anemia, and spontaneous von Willebrand factor-induced platelet clumping leading to microthrombi. The brain is frequently affected by microthrombi leading to neurologic abnormalities of varying severity. STUDY DESIGN AND METHODS: The aim of this observational cohort study was to investigate the prevalence of depression and cognitive deficits in 104 patients having survived acute TTP...
March 24, 2017: Transfusion
https://www.readbyqxmd.com/read/28336681/accuracy-and-reliability-of-stroke-diagnosis-in-the-pediatric-emergency-department
#6
Mark T Mackay, Adriana Yock-Corrales, Leonid Churilov, Paul Monagle, Geoffrey A Donnan, Franz E Babl
BACKGROUND AND PURPOSE: Access to acute stroke interventions in the emergency department (ED) relies on correct clinical diagnosis. Our aims were to determine the accuracy and reliability of pediatric ED physician diagnosis of childhood stroke and other conditions presenting with brain attack symptoms. METHODS: Prospective study of consecutive children aged 1 month to 18 years presenting to the ED from June 2009 to December 2010 with focal neurological deficits...
March 23, 2017: Stroke; a Journal of Cerebral Circulation
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
#7
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
#8
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/28333487/adaptation-of-the-arizona-cognitive-task-battery-for-use-with-the-ts65dn-mouse-model-mus-musculus-of-down-syndrome
#9
Michael R Hunsaker, Genevieve K Smith, Raymond P Kesner
We propose and validate a clear strategy to efficiently and comprehensively characterize neurobehavioral deficits in the Ts65Dn mouse model of Down syndrome. This novel approach uses neurocognitive theory to design and select behavioral tasks that test specific hypotheses concerning the results of Down syndrome. In this article, we model the Arizona Cognitive Task Battery, used to study human populations with Down syndrome, in Ts65Dn mice. We observed specific deficits for spatial memory, impaired long-term memory for visual objects, acquisition and reversal of motor responses, reduced motor dexterity, and impaired adaptive function as measured by nesting and anxiety tasks...
March 23, 2017: Journal of Comparative Psychology
https://www.readbyqxmd.com/read/28333097/effects-of-a-sativex-like-combination-of-phytocannabinoids-on-disease-progression-in-r6-2-mice-an-experimental-model-of-huntington-s-disease
#10
Sara Valdeolivas, Onintza Sagredo, Mercedes Delgado, Miguel A Pozo, Javier Fernández-Ruiz
Several cannabinoids afforded neuroprotection in experimental models of Huntington's disease (HD). We investigated whether a 1:1 combination of botanical extracts enriched in either ∆⁸-tetrahydrocannabinol (∆⁸-THC) or cannabidiol (CBD), which are the main constituents of the cannabis-based medicine Sativex(®), is beneficial in R6/2 mice (a transgenic model of HD), as it was previously shown to have positive effects in neurotoxin-based models of HD. We recorded the progression of neurological deficits and the extent of striatal deterioration, using behavioral, in vivo imaging, and biochemical methods in R6/2 mice and their corresponding wild-type mice...
March 23, 2017: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/28333012/cerebral-cortex-regions-selectively-vulnerable-to-radiation-dose-dependent-atrophy
#11
Tyler M Seibert, Roshan Karunamuni, Samar Kaifi, Jeffrey Burkeen, Michael Connor, Anitha Priya Krishnan, Nathan S White, Nikdokht Farid, Hauke Bartsch, Vyacheslav Murzin, Tanya T Nguyen, Vitali Moiseenko, James B Brewer, Carrie R McDonald, Anders M Dale, Jona A Hattangadi-Gluth
PURPOSE AND OBJECTIVES: Neurologic deficits after brain radiation therapy (RT) typically involve decline in higher-order cognitive functions such as attention and memory rather than sensory defects or paralysis. We sought to determine whether areas of the cortex critical to cognition are selectively vulnerable to radiation dose-dependent atrophy. METHODS AND MATERIALS: We measured change in cortical thickness in 54 primary brain tumor patients who underwent fractionated, partial brain RT...
April 1, 2017: International Journal of Radiation Oncology, Biology, Physics
https://www.readbyqxmd.com/read/28332424/neuroprotective-effect-of-dl-3-n-butylphthalide-on-patients-with-radiation-induced-brain-injury-a-clinical-retrospective-cohort-study
#12
Xiaoni Zhang, Yi Li, Xiangpen Li, Xiaoming Rong, Yamei Tang, Ying Peng
PURPOSE: To evaluate the neuroprotective effects of Dl-3-n-butylphthalide (NBP) on patients with radiation-induced brain injury, a hospital-based, clinical retrospective cohort study was conducted. PATIENTS AND METHODS: Data was collected on patients diagnosed with radiation-induced brain injury from January 2009 to January 2015 in Department of Neurology, Sun Yat-Sen Memorial Hospital. All patients enrolled have received cranial radiotherapy and were diagnosed with radiation-induced brain injury...
March 23, 2017: International Journal of Neuroscience
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
#13
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/28331802/molecular-epidemiology-and-pathology-of-spirorchiid-infection-in-green-sea-turtles-chelonia-mydas
#14
Phoebe A Chapman, Helen Owen, Mark Flint, Ricardo J Soares Magalhães, Rebecca J Traub, Thomas H Cribb, Myat T Kyaw-Tanner, Paul C Mills
Spirorchiid blood fluke infections affect endangered turtle populations globally, and are reported as a common cause of mortality in Queensland green sea turtles. Both the flukes and their ova are pathogenic and can contribute to the stranding or death of their host. Of particular interest are ova-associated brain lesions, which have been associated with host neurological deficits. Accurate estimations of disease frequency and the relative effect of infection relating to different spirorchiid species are made difficult by challenges in morphological identification of adults of some genera, and a lack of species-level identifying features for ova...
April 2017: International Journal for Parasitology. Parasites and Wildlife
https://www.readbyqxmd.com/read/28330447/cigarette-smoking-is-an-independent-risk-factor-for-post-stroke-delirium
#15
Tae Sung Lim, Jin Soo Lee, Jung Han Yoon, So Young Moon, In Soo Joo, Kyoon Huh, Ji Man Hong
BACKGROUND: Post-stroke delirium is a common problem in the care of stroke patients, and is associated with longer hospitalization, high short-term mortality, and an increased need for long-term care. Although post-stroke delirium occurs in approximately 10 ~ 30% of patients, little is known about the risk factors for post-stroke delirium in patients who experience acute stroke. METHODS: A total of 576 consecutive patients who experienced ischemic stroke (mean age, 65...
March 23, 2017: BMC Neurology
https://www.readbyqxmd.com/read/28328806/craniosynostosis-scheuermann-s-disease-and-intellectual-disability-resembling-shprintzen-goldberg-syndrome-a-report-on-a-family-over-4-generations-case-report
#16
Ali Al Kaissi, Zahra Marrakchi, Nabil M Nassib, Jochen Hofstaetter, Franz Grill, Rudolf Ganger, Susanne Gerit Kircher
RATIONALE: Craniosynostosis is a disorder characterized by premature fusion of cranial sutures with subsequent development of abnormal craniofacial contour associated with variable skeletal and extra-skeletal abnormalities. In this family syndromic type of craniosynostosis was recognized and the etiology behind diverse forms of deformities have been diagnosed. PATIENT CONCERNS: The negative impact of the disorder on the child and his family is enormous. Particularly when the diagnosis is late and little can be done...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28328563/patients-without-intraoperative-neuromonitoring-ionm-alerts-during-veptr-implantation-did-not-sustain-neurological-injury-during-subsequent-routine-expansions-a-retrospective-multicenter-cohort-study
#17
Jaren LaGreca, Tara Flynn, Patrick J Cahill, Amer Samdani, Michael G Vitale, Ron El-Hawary, John T Smith, Jonathan H Phillips, John M Flynn, Michael Glotzbecker, Sumeet Garg
BACKGROUND: The purpose of this study was to determine the rate of intraoperative neurological monitoring (IONM) alerts and neurological injury during vertical expandable prosthetic titanium rib (VEPTR) treatment and evaluate the utility of IONM during VEPTR expansion procedures in patients who have not previously had neurological injury or IONM alerts. METHODS: After institutional review board approval, VEPTR procedures and IONM records were reviewed at 17 institutions for patients treated with VEPTR from 2005 to 2011...
March 21, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/28327595/x-linked-inhibitor-of-apoptosis-inhibits-apoptosis-and-preserves-the-blood-brain-barrier-after-experimental-subarachnoid-hemorrhage
#18
Cheng Gao, Hongwei Yu, Cong Yan, Wenyang Zhao, Yao Liu, Dongdong Zhang, Jingwei Li, Nan Liu
Early brain injury following subarachnoid hemorrhage (SAH) strongly determines the prognosis of patients suffering from an aneurysm rupture, and apoptosis is associated with early brain injury after SAH. This study was designed to explore the role of X-linked inhibitor of apoptosis (XIAP) in early brain injury following SAH. The expression of XIAP was detected using western blotting and real-time RT-PCR in an autologous blood injection model of SAH. We also studied the role of XIAP in early brain injury and detected apoptosis-related proteins...
March 22, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#19
Zhongdong Lin, Zhenwei Liu, Xiucui Li, Feng Li, Ying Hu, Bingyu Chen, Zhen Wang, Yong Liu
Epileptic encephalopathies (EE) are a group of severe childhood epilepsy disorders characterized by intractable seizures, cognitive impairment and neurological deficits. Recent whole-exome sequencing (WES) studies have implicated significant contribution of de novo mutations to EE. In this study, we utilized WES for identifying causal de novo mutations in 4 parent-offspring trios affected by West syndrome. As a result, we found two deleterious de novo mutations in DYNC1H1 and RTP1 in two trios. Expression profile analysis showed that DYNC1H1 and RTP1 are expressed in almost all brain regions and developmental stages...
March 21, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28325788/decompression-illness-with-hypovolemic-shock-and-neurological-failure-symptoms-after-two-risky-dives-a-case-report
#20
Sebastian Klapa, Johannes Meyne, Wataru Kähler, Frauke Tillmans, Henning Werr, Andreas Binder, Andreas Koch
Hypovolemia is known to be a predisposing factor of decompression illness (DCI) while diving. The typical clinically impressive neurological symptoms of DCI may distract from other symptoms such as an incipient hypovolemic shock. We report the case of a 61-year-old male Caucasian, who presented with an increasing central and peripheral neural failure syndrome and massive hypovolemia after two risky dives. Computed tomography (CT) scans of the chest and Magnetic resonance imaging scans of the head revealed multiple cerebral and pulmonary thromboembolisms...
March 2017: Physiological Reports
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