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https://www.readbyqxmd.com/read/28324682/gene-expression-analysis-in-untreated-absence-epilepsy-demonstrates-an-inconsistent-pattern
#1
Markus von Deimling, Robert Häsler, Verena Steinbach, Paul-Martin Holterhus, Sarah von Spiczak, Ulrich Stephani, Ingo Helbig, Hiltrud Muhle
OBJECTIVE: Childhood and Juvenile Absence Epilepsy account for 30% of all genetic generalized epilepsies with a strong genetic contribution. At the current state the genetic background remains to be resolved. The aim of this study was to identify disease associated transcripts pinpointing potential underlying disease mechanisms in patients with CAE and JAE. METHODS: We performed gene expression analysis from peripheral blood mononuclear cells (PBMCs) in 30 patients with newly-diagnosed absence epilepsy prior to initiating treatment and 30 healthy age - and gender-matched pediatric controls...
February 28, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/28320147/malignancy-in-guillain-barr%C3%A3-syndrome-a-twelve-year-single-center-study
#2
Fu Liong Hiew, Yusuf A Rajabally
The relationship between Guillain-Barré syndrome (GBS) and malignancy is uncertain. We retrospectively analyzed data of 118 consecutive patients admitted with GBS from Birmingham, U.K. (2001-2012). We calculated relative cancer risk using different definitions and determined characteristics of malignancy-associated GBS. Malignancy was globally commoner in our GBS cohort compared to the general population (odds ratio: 2.08; CI: 1.06-3.71; p=0.036). However, this was unconfirmed if paraneoplastic criteria were applied...
April 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28319444/retro-orbital-venous-sinus-delivery-of-raav9-mediates-high-level-transduction-of-brain-and-retina-compared-with-temporal-vein-delivery-in-neonatal-mouse-pups
#3
Alisha M Gruntman, Lin Su, Terence R Flotte
In order to pursue a clinical gene therapy for a human neurologic disease, it is often necessary to perform proof-of-concept trials in mouse models of that disease. In order to demonstrate a potential clinical efficacy, one must be able to select an appropriate vector and route of delivery for the appropriate age group in the disease model. Since many diseases require correction early in life, investigators often need to deliver recombinant adeno-associated viral (rAAV) vectors to neonatal mice. Herein, general central nervous system expression patterns of nuclear GFP following delivery of rAAV by three different routes are reported...
March 2017: Human Gene Therapy
https://www.readbyqxmd.com/read/28319240/two-paradigms-for-endovascular-thrombectomy-after-intravenous-thrombolysis-for-acute-ischemic-stroke
#4
Gaspard Gerschenfeld, Ioan-Paul Muresan, Raphael Blanc, Michael Obadia, Marie Abrivard, Michel Piotin, Sonia Alamowitch
Importance: Intravenous thrombolysis (IVT) followed by mechanical thrombectomy (MT) is recommended to treat acute ischemic stroke (AIS) with a large vessel occlusion (LVO). Most hospitals do not have on-site MT facilities, and most patients need to be transferred secondarily after IVT (drip and ship), which may have an effect on the neurologic outcome. Objective: To compare the functional independence at 3 months between patients treated under the drip-and-ship paradigm and those treated on site (mothership)...
March 20, 2017: JAMA Neurology
https://www.readbyqxmd.com/read/28319126/effects-of-sevoflurane-and-clonidine-on-acid-base-status-and-long-term-emotional-and-cognitive-outcomes-in-spontaneously-breathing-rat-pups
#5
Nicole Almenrader, Paola Colucci, Valentina De Castro, Daniela Valeri, Maura Palmery, Viviana Trezza, Patrizia Campolongo
BACKGROUND: Numerous experiments in rodents suggest a causative link between exposure to general anaesthetics during brain growth spurt and poor long-lasting neurological outcomes. Many of these studies have been questioned with regard of their translational value, mainly because of extremely long anaesthesia exposure. Therefore, the aim of the present study was to assess the impact of a short sevoflurane anaesthesia, alone or combined with clonidine treatment, on respiratory function in spontaneously breathing rat pups and overall effects on long-lasting emotional and cognitive functions...
2017: PloS One
https://www.readbyqxmd.com/read/28314940/diagnostic-accuracy-of-rem-sleep-behaviour-disorder-screening-questionnaire-a-meta-analysis
#6
Kai Li, Shu-Hua Li, Wen Su, Hai-Bo Chen
A screening tool can greatly facilitate the identification of individuals with rapid eye movement (REM) sleep behaviour disorder (RBD). Currently, the REM sleep behaviour disorder screening questionnaire (RBDSQ) is widely used, but its diagnostic accuracy has varied across previous studies. The aim of the present study was to systematically assess the diagnostic performance of the RBDSQ. We comprehensively searched for studies that evaluated the diagnostic performance of the RBDSQ. A bivariate mixed-effects model was used to summarize the diagnostic accuracy of the RBDSQ...
March 17, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28314518/the-interface-between-chronic-fatigue-syndrome-and-depression-a-psychobiological-and-neurophysiological-conundrum
#7
Derek Larkin, Colin R Martin
The chronic fatigue syndrome (CFS) remains a contentious and controversial presentation despite decades of systematic research from a variety of medical specialties and associated disciplines. Variously championed as a condition of immunological, neurological, neurophysiological, psychiatric or psychological origin, consensus on a cogent and evidenced-based pathway has yet to be achieved. Irrespective of the ambiguity regarding aetiology, what is incontrovertible is the experience of significant depression, which often accompanies this most distressing clinical presentation...
March 14, 2017: Neurophysiologie Clinique, Clinical Neurophysiology
https://www.readbyqxmd.com/read/28304316/perspectives-and-attitudes-of-pediatricians-concerning-post-discharge-care-practice-of-premature-infants
#8
A Gad, E Parkinson, N Khawar, A Elmeki, P Narula, D Hoang
OBJECTIVE: Survival rates of premature infants are at a historical high and increasingly more pediatricians are caring for former premature infants. The goal of this study was to describe the perspectives and attitudes of pediatricians, as well as, the challenges of rendering post-neonatal intensive care unit (NICU) discharge care for premature infants. METHODS: An anonymous 22-question web-based survey was emailed to pediatricians who are current members of the American Academy of Pediatrics (AAP) and practicing in Kings County, New York...
March 16, 2017: Journal of Neonatal-perinatal Medicine
https://www.readbyqxmd.com/read/28302865/management-of-patients-with-functional-neurological-symptoms-a-single-centre-randomised-controlled-trial
#9
Marc Pleizier, Rob J de Haan, Marinus Vermeulen
OBJECTIVE: Is health-related quality of life 12 months after randomisation in participants with functional neurological symptoms better after discussion of the diagnosis by trained neurologists who schedule at least two follow-up visits (intervention group) than after the same discussion of the diagnosis by these neurologists and immediate referral to the general practitioner (control group)? METHODS: A single-centre randomised controlled trial at one academic outpatient department of neurology...
March 16, 2017: Journal of Neurology, Neurosurgery, and Psychiatry
https://www.readbyqxmd.com/read/28302064/a-sibship-with-duplication-of-xq28-inherited-from-the-mother-genomic-characterization-and-clinical-outcomes
#10
Dong Keon Yon, Ji Eun Park, Seung Jun Kim, Sung Han Shim, Kyu Young Chae
BACKGROUND: Loss-of-function mutations in methyl-CpG-binding protein 2 (MECP2; MIM *300005) results in the Rett syndrome, whereas gain-of-function mutations are associated with the MECP2 duplication syndrome. METHODS: We did research on a family with two brothers showing Xq28 duplication syndrome using various molecular cytogenetic techniques such as multiplex ligation-dependent probe amplification and array-based genomic hybridization. RESULTS: The duplicated region had several genes including MECP2 and interleukin-1 receptor associated kinase 1 (IRAK1; MIM *300283)...
March 17, 2017: BMC Medical Genetics
https://www.readbyqxmd.com/read/28300031/epileptic-spasms-in-congenital-disorders-of-glycosylation
#11
Andreia G Pereira, Nadia Bahi-Buisson, Christine Barnerias, Nathalie Boddaert, Rima Nabbout, Pascale de Lonlay, Anna Kaminska, Monika Eisermann
Congenital disorders of glycosylation (CDG) are a group of rare metabolic diseases, characterized by impaired glycosylation of proteins and lipids. Multisystemic involvement is common and neurological impairment is notably severe and disabling, concerning the central and peripheral nervous system. Epilepsy is frequent, but detailed electroclinical description is rare. We describe, retrospectively, the electroclinical features in five children with CDG syndrome and epileptic spasms. Epileptic spasms were observed in patients with CDG Ik, Ic, Ix, and Ip subtypes, and occurred at an early age, before 6 months in all cases, except one who had spasms that started at 18 months...
March 14, 2017: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/28299224/a-rare-cause-of-childhood-cerebellitis-influenza-infection-a-case-report-and-systematic-review-of-literature
#12
Şule Gökçe, Zafer Kurugol, Aslı Aslan
Acute cerebellitis is a benign neurologic condition generally caused by viral or bacterial infections. Influenza associated cerebellitis is extremely rare; a 6-year-old boy with acute cerebellitis, who presented with fever, vomiting, weakness, febrile seizure, and acute cerebellar features, is discussed in this article.
2017: Case Reports in Pediatrics
https://www.readbyqxmd.com/read/28298623/length-dependent-gene-misexpression-is-associated-with-alzheimer-s-disease-progression
#13
Shahar Barbash, Thomas P Sakmar
Recent reports show transcription preference for long genes in neuronal tissues compared with non-neuronal tissues, and a gene-length dependent change in expression in the neurodevelopmental disease Rett syndrome (RTT). Whether the gene-length dependent changes in expression seen in RTT might also be seen in neurodegenerative diseases is not yet known. However, a reasonable hypothesis is that similar effects might be seen in neurodegenerative diseases as well as in RTT since a common general feature of both illnesses involves progressive dysfunction of synapses...
March 15, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28296747/adult-onset-still-s-disease-with-atypical-cutaneous-manifestations
#14
Francisco Javier Narváez Garcia, María Pascual, Mercè López de Recalde, Pablo Juarez, Isabel Morales-Ivorra, Jaime Notario, Anna Jucglà, Joan M Nolla
The diagnosis of adult-onset Still's disease (AOSD) can be very difficult. There are no specific tests available, and diagnosis is usually based on a symptom complex and the well-described typical evanescent rash seen in the majority of patients. However, in recent years, other atypical cutaneous manifestations of AOSD have been reported. These atypical skin eruptions often present in addition to the typical evanescent rash but may also be the only skin manifestation, resulting in delayed diagnosis because of under-recognition...
March 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28295553/serum-carcinoembryonic-antigen-specifically-increases-among-various-serum-markers-of-adenocarcinoma-in-hypohidrosis-or-conditions-related-to-hypohidrosis
#15
Masaru Honma, Hiroyoshi Nozaki, Hiroko Nagahata, Mizue Fujii, Takashi Shibuya, Kyoko Kanno, Masako Minami-Hori, Akemi Ishida-Yamamoto
Anhidrosis/hypohidrosis are conditions presenting various level of sweating dysfunction. Among them, acquired idiopathic generalized anhidrosis (AIGA) presents inadequate decrease or loss of sweating without apparent neurological and dermatological symptoms except cholinergic urticaria. Recently, serum level of carcinoembryonic antigen (CEA), one of the most well-known tumor markers, has been proposed as a clinical marker reflecting activity of AIGA. This study was performed to verify the specificity and independence of serum CEA level from the other serum tumor markers especially related to adenocarcinoma...
March 11, 2017: Journal of Dermatology
https://www.readbyqxmd.com/read/28293478/disrupted-brain-network-functional-dynamics-and-hyper-correlation-of-structural-and-functional-connectome-topology-in-patients-with-breast-cancer-prior-to-treatment
#16
Shelli R Kesler, Marjorie Adams, Melissa Packer, Vikram Rao, Ashley M Henneghan, Douglas W Blayney, Oxana Palesh
INTRODUCTION: Several previous studies have demonstrated that cancer chemotherapy is associated with brain injury and cognitive dysfunction. However, evidence suggests that cancer pathogenesis alone may play a role, even in non-CNS cancers. METHODS: Using a multimodal neuroimaging approach, we measured structural and functional connectome topology as well as functional network dynamics in newly diagnosed patients with breast cancer. Our study involved a novel, pretreatment assessment that occurred prior to the initiation of any cancer therapies, including surgery with anesthesia...
March 2017: Brain and Behavior
https://www.readbyqxmd.com/read/28293185/hypoconnectivity-of-resting-state-networks-in-persons-with-aphasia-compared-with-healthy-age-matched-adults
#17
Chaleece W Sandberg
Aphasia is a language disorder affecting more than one million people in the US. While language function has traditionally been the focus of neuroimaging research, other cognitive functions are affected in this population, which has implications not only for those specific processes but also for the interaction of language and other cognitive functions. Resting state fMRI (rs-fMRI) is a practical and informative way to explore and characterize general cognitive engagement and/or health in this population, but it is currently underutilized...
2017: Frontiers in Human Neuroscience
https://www.readbyqxmd.com/read/28291635/awareness-of-obstructive-sleep-apnea-hypopnea-syndrome-among-the-general-population-of-the-lorraine-region-of-france
#18
F Arous, J-M Boivin, A Chaouat, C Rumeau, R Jankowski, D T Nguyen
OBJECTIVE: Obstructive sleep apnea-hypopnea syndrome (OSAHS) seems to be underdiagnosed. The aim of this study was to assess awareness of OSAHS among the general population of the Lorraine Region of France. METHODS: A descriptive epidemiological study was carried out from July to November 2015 in the Lorraine Region, using an anonymous questionnaire that assessed knowledge of OSAHS-related symptoms and complications. The survey was also circulated on the Internet via social media...
March 10, 2017: European Annals of Otorhinolaryngology, Head and Neck Diseases
https://www.readbyqxmd.com/read/28291547/remote-cerebellar-haemorrhage-after-placement-of-an-external-ventricular-drainage-for-acute-hydrocephalus-a-case-report
#19
I Caldeira, J Lavrador, G Basílio, R Sousa, S Reimão
INTRODUCTION: Remote cerebellar haemorrhage (RCH) is a rare complication following a craniotomy. This generally benign phenomenon is an identifiable complication of supratentorial craniotomies and should not be mistaken with other pathologies. The most common presenting symptom is a decrease in the level of consciousness but in some cases the RCH may be asymptomatic and accidentally discovered in follow-up CT scans. CASE REPORT: A 70-year-old man was admitted to our emergency department with sudden mental status deterioration...
March 10, 2017: Neuro-Chirurgie
https://www.readbyqxmd.com/read/28291522/fractures-and-dislocations-of-the-hand-in-polytrauma-patients-incidence-injury-pattern-and-functional-outcome
#20
Steven Ferree, Quirine M J van der Vliet, Mark van Heijl, Roderick M Houwert, Luke P H Leenen, Falco Hietbrink
INTRODUCTION: Injuries of the hand can cause significant functional impairment, diminished quality of life and delayed return to work. However, the incidence and functional outcome of hand injuries in polytrauma patients is currently unknown. The aim of this study was to determine the incidence, distribution and functional outcome of fractures and dislocation of the hand in polytrauma patients. METHODS: A single centre retrospective cohort study was performed at a level 1 trauma centre...
March 6, 2017: Injury
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