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https://www.readbyqxmd.com/read/28078312/biallelic-scn10a-mutations-in-neuromuscular-disease-and-epileptic-encephalopathy
#1
Marios Kambouris, Julien Thevenon, Ariane Soldatos, Allison Cox, Joshi Stephen, Tawfeg Ben-Omran, Yasser Al-Sarraj, Hala Boulos, William Bone, James C Mullikin, Alice Masurel-Paulet, Judith St-Onge, Yannis Dufford, Corrine Chantegret, Christel Thauvin-Robinet, Jamil Al-Alami, Laurence Faivre, Jean Baptiste Riviere, William A Gahl, Alexander G Bassuk, May Christine V Malicdan, Hatem El-Shanti
OBJECTIVES: Two consanguineous families, one of Sudanese ethnicity presenting progressive neuromuscular disease, severe cognitive impairment, muscle weakness, upper motor neuron lesion, anhydrosis, facial dysmorphism, and recurrent seizures and the other of Egyptian ethnicity presenting with neonatal hypotonia, bradycardia, and recurrent seizures, were evaluated for the causative gene mutation. METHODS AND RESULTS: Homozygosity mapping and whole exome sequencing (WES) identified damaging homozygous variants in SCN10A, namely c...
January 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/28067748/levator-ani-muscle-defects-in-patients-with-surgical-failure
#2
Allison M Wyman, Kristie A Greene, Renee Bassaly, Lindsey Hahn, Simon Patton, Branko Miladinovic, Lennox Hoyte
INTRODUCTION: The objective of the study was to use a well-described system of measuring levator ani (LA) muscle defects from magnetic resonance images to evaluate whether major defects are correlated to an increased risk of surgical failure. METHODS: A retrospective cohort study performed on patients who underwent laparoscopic uterosacral ligament suspension from 2010 to 2012. Surgical failure was defined as a composite score of anatomic bulge beyond the hymen with sensation of bulge or repeat treatment of prolapse via pessary or surgery by 1-year follow-up...
January 6, 2017: Female Pelvic Medicine & Reconstructive Surgery
https://www.readbyqxmd.com/read/28056580/utility-of-adjunctive-digital-subtraction-venography-for-the-treatment-of-saphenous-vein-insufficiency
#3
Ramon L Varcoe, Shannon D Thomas, Victor Bourke, Nicole M K Rübesamen, Andrew F Lennox
PURPOSE: To report the use of adjunctive venography for the treatment of superficial venous reflux. METHODS: Two hundred consecutive patients (mean age 60.9 years, range 33-86; 128 women) with chronic venous disease underwent saphenous or perforator vein ablation in 268 limbs (305 venous trunks) guided by adjunctive venography and fluoroscopy in addition to ultrasound between October 2010 and May 2016. Intraprocedural venograms were independently evaluated by 2 vascular specialists to identify the presence of venous anomalies and the need for fluoroscopy-guided maneuvers to successfully complete venous ablation...
January 1, 2017: Journal of Endovascular Therapy
https://www.readbyqxmd.com/read/28038390/a-two-year-retrospective-evaluation-of-perampanel-in-patients-with-highly-drug-resistant-epilepsy-and-cognitive-impairment
#4
Bernd Huber, Gaby Schmid
PURPOSE: The objective of this work was to review systematically the efficacy and tolerability of perampanel (PER) in residential patients of an epilepsy center. METHOD: We adopted an industry-independent noninterventional retrospective evaluation on the basis of the paper and electronic records complemented by personal information on the part of the treating neurologists. All patients (N=26, 15 females, mean age: 30, range 21-55years) started on PER from its introduction to the market in September 2012 until December 15th 2013 were included...
December 27, 2016: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28027256/evidence-based-medicine-autologous-breast-reconstruction
#5
Sheina A Macadam, Esta S Bovill, Edward W Buchel, Peter A Lennox
LEARNING OBJECTIVES: After studying this article, the participant should be able to: 1. Gain an understanding of the different methods of autologous reconstruction available. 2. Understand the timing of autologous breast reconstruction and the impact of adjuvant and neoadjuvant treatments. 3 Understand the factors necessary for a comprehensive patient assessment. 4. Gain knowledge of patient factors that will affect autologous reconstruction and potential contraindications. 5. Summarize the patient-reported and clinical outcomes of autologous breast reconstruction...
January 2017: Plastic and Reconstructive Surgery
https://www.readbyqxmd.com/read/27994367/brainstem-dysfunction-in-patients-with-late-onset-lennox-gastaut-syndrome-voxel-based-morphometry-and-tract-based-spatial-statistics-study
#6
Kang Min Park, Yun Jung Hur, Sung Eun Kim
BACKGROUND: There have been a few reports of patients who developed Lennox-Gastaut syndrome (LGS) in the second decades of their life. OBJECTIVES: The aim of this study was to investigate electroclinical presentation in patients with late-onset LGS. In addition, we evaluated structural abnormalities of the brain, which may give some clue about the common pathogenic pathway in LGS. MATERIALS AND METHODS: We enrolled the patients with late-onset LGS...
October 2016: Annals of Indian Academy of Neurology
https://www.readbyqxmd.com/read/27992500/discovery-of-novel-small-molecule-inhibitors-of-vegf-expression-in-tumor-cells-using-a-cell-based-high-throughput-screening-platform
#7
Liangxian Cao, Marla Weetall, Jenelle Bombard, Hongyan Qi, Tamil Arasu, William Lennox, Jean Hedrick, Josephine Sheedy, Nicole Risher, Peter C Brooks, Panayiota Trifillis, Christopher Trotta, Young-Choon Moon, John Babiak, Neil G Almstead, Joseph M Colacino, Thomas W Davis, Stuart W Peltz
Current anti-VEGF (Vascular Endothelial Growth Factor A) therapies to treat various cancers indiscriminately block VEGF function in the patient resulting in the global loss of VEGF signaling which has been linked to dose-limiting toxicities as well as treatment failures due to acquired resistance. Accumulating evidence suggests that this resistance is at least partially due to increased production of compensatory tumor angiogenic factors/cytokines. VEGF protein production is differentially controlled depending on whether cells are in the normal "homeostatic" state or in a stressed state, such as hypoxia, by post-transcriptional regulation imparted by elements in the 5' and 3' untranslated regions (UTR) of the VEGF mRNA...
2016: PloS One
https://www.readbyqxmd.com/read/27981644/structure-activated-copper-photosensitizers-for-photocatalytic-water-reduction
#8
Shu-Ping Luo, Nan-Yu Chen, Yuan-Yuan Sun, Alastair J J Lennox, Liang-Min Xia, Hao Chen, Hai-Ming Jin, Henrik Junge, Qin-An Wu, Jian-Hong Jia, Matthias Beller
A series of phenanthroline-based ligands have been synthesized and their influence as N ligands in heteroleptic [Cu(P^P)(N^N)]+ photosensitizers in light driven water reduction has been studied. In this noble-metal free Cu-Fe-based photocatalytic water reduction system, the structure effect of this N ligands has been explored by a previously developed in-situ method and the complexes exhibited a significant hydrogen generation with up to 1388 turnover numbers (TONCu). The steric function and electron effect of 2, 9 and 4, 7 positions substituent groups in phenanthroline were discussed for the complex's activity in detail...
December 16, 2016: Chemistry: a European Journal
https://www.readbyqxmd.com/read/27965002/prevalence-and-clinical-characteristics-of-serum-neuronal-cell-surface-antibodies-in-first-episode-psychosis-a-case-control-study
#9
Belinda R Lennox, Emma C Palmer-Cooper, Thomas Pollak, Jane Hainsworth, Jacqui Marks, Leslie Jacobson, Bethan Lang, Hannah Fox, Berne Ferry, Linda Scoriels, Hannah Crowley, Peter B Jones, Paul J Harrison, Angela Vincent
BACKGROUND: Psychosis is a common presenting feature in antibody-mediated encephalitis, for which prompt recognition and treatment usually leads to remission. We aimed to investigate whether people with circumscribed schizophrenia-like illnesses have such antibodies-especially antibodies against the N-methyl-D-aspartate receptor (NMDAR)-more commonly than do healthy controls. METHODS: We recruited patients aged 14-35 years presenting to any of 35 mental health services sites across England with first-episode psychosis, less than 6 weeks of treatment with antipsychotic medication, and a score of 4 or more on at least one selected Positive and Negative Syndrome Scale (PANSS) item...
January 2017: Lancet Psychiatry
https://www.readbyqxmd.com/read/27934621/drug-resistant-epilepsy-after-treatment-for-childhood-acute-lymphocytic-leukaemia-from-focal-epilepsy-to-lennox-gastaut-syndrome
#10
Karina A González-Otárula, Blanca Mercedes Álvarez, François Dubeau
Drug-resistant epilepsy, not associated with acute brain complications or central nervous system leukaemic involvement, can develop in patients treated for acute lymphocytic leukaemia during childhood. It has been postulated that this rare complication may be due to CNS oncological treatment neurotoxicity, related to intrathecal drugs, such as methotrexate, and brain radiotherapy. We report four patients who developed drug-resistant epilepsy sometime after receiving treatment for acute lymphocytic leukaemia...
December 1, 2016: Epileptic Disorders: International Epilepsy Journal with Videotape
https://www.readbyqxmd.com/read/27924473/non-nucleotide-modification-of-anti-mirna-oligonucleotides
#11
Kim A Lennox, Christopher A Vakulskas, Mark A Behlke
MicroRNAs (miRNAs) are important modulators of gene expression. Synthetic anti-microRNA oligonucleotides (AMOs, or anti-miRs) are a form of steric-blocking antisense oligonucleotides (ASOs) that inhibit miRNA function through high-affinity binding and subsequent inactivation and/or degradation of the targeted miRNA. AMOs are a primary tool used to empirically determine the biological targets of a miRNA and can also be used therapeutically when overexpression of a miRNA contributes to a disease state. Chemical modification of synthetic AMOs enhance potency by protecting the oligonucleotide from nuclease degradation and by increasing binding affinity to the target miRNA...
2017: Methods in Molecular Biology
https://www.readbyqxmd.com/read/27917084/sofosbuvir-and-simeprevir-combination-therapy-for-hcv-genotype-1-infection-results-of-a-single-center-va-experience
#12
Seth N Sclair, Maria Del Pilar Hernandez, Evan Vance, Dani Gilinski, Helen Youtseff, Maribel Toro, Marie Antoine, Lennox J Jeffers, Adam Peyton
Treatment of chronic hepatitis C virus (HCV) infection remains a priority in the veterans affairs (VA) health care system nationwide, as there is a high burden of liver disease due to HCV infection among US veterans. The combination of sofosbuvir and simeprevir was the first all-oral antiviral regimen used in clinical practice to treat veterans with HCV infection. In this study, we report a single-center experience showing both the feasibility and effectiveness of this all-oral combination to treat HCV genotype 1 infection...
August 2016: Gastroenterology & Hepatology
https://www.readbyqxmd.com/read/27916527/dynamic-mrna-transport-and-local-translation-in-radial-glial-progenitors-of-the-developing-brain
#13
Louis-Jan Pilaz, Ashley L Lennox, Jeremy P Rouanet, Debra L Silver
In the developing brain, neurons are produced from neural stem cells termed radial glia [1, 2]. Radial glial progenitors span the neuroepithelium, extending long basal processes to form endfeet hundreds of micrometers away from the soma. Basal structures influence neuronal migration, tissue integrity, and proliferation [3-7]. Yet, despite the significance of these distal structures, their cell biology remains poorly characterized, impeding our understanding of how basal processes and endfeet influence neurogenesis...
December 19, 2016: Current Biology: CB
https://www.readbyqxmd.com/read/27916138/alcohol-exposure-differentially-effects-anti-tumor-immunity-in-females-by-altering-dendritic-cell-function
#14
Matthew G Thompson, Flor Navarro, Lennox Chitsike, Luis Ramirez, Elizabeth J Kovacs, Stephanie K Watkins
Dendritic cells (DCs) are a critical component of anti-tumor immunity due to their ability to induce a robust immune response to antigen (Ag). Alcohol was previously shown to reduce DC ability to present foreign Ag and promote pro-inflammatory responses in situations of infection and trauma. However the impact of alcohol exposure on generation of an anti-tumor response, especially in the context of generation of an immune vaccine has not been examined. In the clinic, DC vaccines are typically generated from autologous blood, therefore prior exposure to substances such as alcohol may be a critical factor to consider regarding the effectiveness in generating an immune response...
December 2016: Alcohol
https://www.readbyqxmd.com/read/27913561/hospitals-and-patients-working-in-unity-how-r-u-protocol-for-a-prospective-feasibility-study-of-telephone-peer-support-to-improve-older-patients-quality-of-life-after-emergency-department-discharge
#15
Judy A Lowthian, Alyse Lennox, Andrea Curtis, Jeremy Dale, Colette Browning, De Villiers Smit, Gillian Wilson, Debra O'Brien, Cate Rosewarne, Lee Boyd, Cath Garner, Peter Cameron
INTRODUCTION: Older people presenting to an emergency department (ED) have a higher likelihood of social isolation, loneliness and depression; which are all associated with negative health outcomes and increased health service use, including higher rates of ED attendance. The HOW R U? study aims to ascertain the feasibility and acceptability of a postdischarge telephone support programme for older ED patients following discharge. The intervention, which aims to improve quality of life, will be delivered by hospital-based volunteers...
December 2, 2016: BMJ Open
https://www.readbyqxmd.com/read/27868478/genetic-diversity-and-gene-flow-of-four-south-african-venturia-inaequalis-apple-scab-populations
#16
Trevor A Koopman, Julia Christine Meitz-Hopkins, Aletta E Bester-van der Merwe, Kenneth R Tobutt, Cecilia Bester, Cheryl L Lennox
Venturia inaequalis isolates were collected during the 2012/13 and 2013/14 seasons from the four principal apple growing regions of South Africa, Elgin (N=114), Koue Bokkeveld (N=126), Lower Langkloof (N=92) and Upper Langkloof (N=103). Sequence analysis of the ribosomal internal transcribed spacer (ITS) gene regions, and genotyping with six (2012/13) and seven (2013/14) microsatellite (SSR) markers, was conducted. A subset of 12 isolates from the individual ITS haplotype groups were sequenced for the translation elongation factor-1 alpha (TEF1) and the large subunit of the RNA polymerases II (RBP1) gene regions...
November 21, 2016: Phytopathology
https://www.readbyqxmd.com/read/27857813/anesthetic-management-of-a-child-with-lennox-gastaut-syndrome-with-intractable-epilepsy-posted-for-intracranial-surgery
#17
Indu Kapoor, Girija Prasad Rath
No abstract text is available yet for this article.
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27846468/therapeutic-effects-of-the-ketogenic-diet-in-children-with-lennox-gastaut-syndrome
#18
Yunjian Zhang, Yi Wang, Yuanfeng Zhou, Linmei Zhang, Lifei Yu, Shuizhen Zhou
OBJECTIVE: The aim of this study was to evaluate the efficacy of the ketogenic diet (KD) on the clinical and electroencephalographic (EEG) features of Lennox-Gastaut syndrome (LGS) and explore the relationships between EEG changes and clinical efficacy. METHODS: We retrospectively studied 47 patients with LGS who accepted KD therapy between May 2011 and May 2015. Clinical efficacy and EEG features such as background activity, abnormal interictal epileptic discharges (IEDs) and the discharge location were evaluated prior to and at 3 and 6 months after therapy...
December 2016: Epilepsy Research
https://www.readbyqxmd.com/read/27827811/lacosamide-in-lennox-gastaut-syndrome-caution-is-still-needed
#19
REVIEW
Edoardo Ferlazzo, Sara Gasparini, Chiara Sueri, Vittoria Cianci, Umberto Aguglia
No abstract text is available yet for this article.
December 2016: Journal of Child Neurology
https://www.readbyqxmd.com/read/27806796/-dynamin-1-related-infantile-spasms-a-case-report-and-review-of-literature
#20
X L Deng, F Yin, C L Zhang, Y P Ma, F He, L W Wu, J Peng
Objective: To analyze the clinical and gene mutation characteristics of dynamin-1 (DNM1)-related infantile spasms. Method: Clinical, laboratory and genetic data of one case of DNM1-related infantile spasms diagnosed by Xiangya Hospital in September 2015 were analyzed.Through taking "Dynamin-1" "DNM1" as key words to search at CNKI, Wanfang, PubMed and OMIM to date (April 2016), the clinical characteristics of 9 reported cases of DNM1-related epileptic encephalopathy in international literature with our case were reviewed...
November 2, 2016: Zhonghua Er Ke za Zhi. Chinese Journal of Pediatrics
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