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Yeşim Gülen Abanoz, Yasin Abanoz, Çiğdem Özkara
INTRODUCTION: Photosensitivity, which is a main feature of Jeavons syndrome, can be seen in other types of idiopathic or genetic epilepsies with focal or generalized seizures and tends to disappear spontaneously usually in the second decade. Although it responds well to antiepileptic treatment, especially to valproic acid, it may continue into adulthood in rare cases. CASE REPORT: We describe a 63-year-old male patient with eyelid myoclonia with absences, generalized tonic-clonic seizures, and severe photosensitivity accompanied by eyelid myoclonia...
May 2018: Neurologist
Cassandra Jeavons, Craig Hacking, Ludo F Beenen, Martin L Gunn
PURPOSE: The purpose of this study was to review and compare the image quality and radiation dose of split-bolus single-pass computed tomography(CT) in the assessment of trauma patients in comparison to standard multi-phase CT techniques. METHODS: An online electronic database was searched using the MESH terms "split-bolus," "dual phase," and "single pass." Inclusion criteria required the research article to compare a split contrast bolus protocol in a single-pass scan in the assessment of trauma patients...
February 24, 2018: Emergency Radiology
Pinelopi Dragoumi, Jacqueline Emery, Fiona Chivers, Megan Brady, Archana Desurkar, J Helen Cross, Krishna B Das
Accurate diagnosis of a distinct epilepsy syndrome is based on well-defined electroclinical features that differentiate separate nosological entities. In clinical practice, however, syndromes may overlap and cases may present with unusual manifestations posing a diagnostic challenge. This heterogeneity has been documented in several cases presenting with eyelid myoclonia with or without absences (EMA) diagnosed either as Jeavons syndrome (JS) variants or as genetic generalised epilepsies defined by the presence of this unique clinical entity...
February 1, 2018: Epileptic Disorders: International Epilepsy Journal with Videotape
Felippe Borlot, Brigid M Regan, Anne S Bassett, D James Stavropoulos, Danielle M Andrade
Importance: Copy number variation (CNV) is an important cause of neuropsychiatric disorders. Little is known about the role of CNV in adults with epilepsy and intellectual disability. Objectives: To evaluate the prevalence of pathogenic CNVs and identify possible candidate CNVs and genes in patients with epilepsy and intellectual disability. Design, Setting, and Participants: In this cross-sectional study, genome-wide microarray was used to evaluate a cohort of 143 adults with unexplained childhood-onset epilepsy and intellectual disability who were recruited from the Toronto Western Hospital epilepsy outpatient clinic from January 1, 2012, through December 31, 2014...
November 1, 2017: JAMA Neurology
W Phillip Law, Nicole Maggacis, Susanne J Jeavons, Kenneth A Miles
AIM: The aim of this study was to assess the concordance of PET measurements of F-FDG uptake in tumor and normal tissues obtained on Australia's first clinical PET/MRI scanner in comparison to PET/CT, with comparison against published data. METHODS: One hundred subjects were prospectively recruited from an unselected, heterogeneous group of cancer patients to undergo F-FDG PET/CT and PET/MRI on the same day. SUVs of physiological regions and tumor tissues obtained by PET/MRI and PET/CT were compared and benchmarked against existing published data...
March 2017: Clinical Nuclear Medicine
Daniel Nichol, Mark Robertson-Tessi, Peter Jeavons, Alexander R A Anderson
Nongenetic variation in phenotypes, or bet-hedging, has been observed as a driver of drug resistance in both bacterial infections and cancers. Here, we study how bet-hedging emerges in genotype-phenotype (GP) mapping through a simple interaction model: a molecular switch. We use simple chemical reaction networks to implement stochastic switches that map gene products to phenotypes, and investigate the impact of structurally distinct mappings on the evolution of phenotypic heterogeneity. Bet-hedging naturally emerges within this model, and is robust to evolutionary loss through mutations to both the expression of individual genes, and to the network itself...
December 2016: Genetics
Nicole Armbruster, Annalisa Lattanzi, Matthieu Jeavons, Laetitia Van Wittenberghe, Bernard Gjata, Thibaut Marais, Samia Martin, Alban Vignaud, Thomas Voit, Fulvio Mavilio, Martine Barkats, Ana Buj-Bello
Spinal muscular atrophy (SMA) is an autosomal recessive disease of variable severity caused by mutations in the SMN1 gene. Deficiency of the ubiquitous SMN function results in spinal cord α-motor neuron degeneration and proximal muscle weakness. Gene replacement therapy with recombinant adeno-associated viral (AAV) vectors showed therapeutic efficacy in several animal models of SMA. Here, we report a study aimed at analyzing the efficacy and biodistribution of a serotype-9, self-complementary AAV vector expressing a codon-optimized human SMN1 coding sequence (coSMN1) under the control of the constitutive phosphoglycerate kinase (PGK) promoter in neonatal SMNΔ7 mice, a severe animal model of the disease...
2016: Molecular Therapy. Methods & Clinical Development
Judith Brown, Joanne Neary, Srinivasa Vittal Katikireddi, Hilary Thomson, Ronald W McQuaid, Alastair H Leyland, John Frank, Luke Jeavons, Paul de Pellette, Sibel Kiran, Ewan B Macdonald
INTRODUCTION: Increasing employment among older workers is a policy priority given the increase in life expectancy and the drop in labour force participation after the age of 50. Reasons for this drop are complex but include poor health, age discrimination, inadequate skills/qualifications and caring roles; however, limited evidence exists on how best to support this group back to work. The Work Programme is the UK Government's flagship policy to facilitate return to work (RTW) among those at risk of long-term unemployment...
December 16, 2015: BMJ Open
Panos Lehouritis, Michael Stanton, Florence O McCarthy, Matthieu Jeavons, Mark Tangney
Some chemotherapeutic drugs (prodrugs) require activation by an enzyme for efficacy. We and others have demonstrated the ability of probiotic bacteria to grow specifically within solid tumours following systemic administration, and we hypothesised that the natural enzymatic activity of these tumour-localised bacteria may be suitable for activation of certain such chemotherapeutic drugs. Several wild-type probiotic bacteria; Escherichia coli Nissle, Bifidobacterium breve, Lactococcus lactis and Lactobacillus species, were screened against a panel of popular prodrugs...
January 28, 2016: Journal of Controlled Release: Official Journal of the Controlled Release Society
Magnhild Kverneland, Kaja K Selmer, Karl O Nakken, Per O Iversen, Erik Taubøll
For children with pharmacoresistant epilepsy, the ketogenic diet is an established treatment option worldwide. However, for adults, this treatment is less frequently offered, and its efficacy less well-documented. The aim of this study was to examine efficacy and tolerability of such a diet as an adjuvant therapy to antiepileptic drugs for adult patients with pharmacoresistant generalized epilepsy. Thirteen patients (12 women) aged 16-57 years were included prospectively. They were treated with a modified Atkins diet for 12 weeks...
December 2015: Epilepsy & Behavior: E&B
Beatriz G Giráldez, Jose M Serratosa
No abstract text is available yet for this article.
November 2015: Seizure: the Journal of the British Epilepsy Association
Ashley S Fournier-Goodnight, Marsha Gabriel, M Scott Perry
Jeavons syndrome (JS, eyelid myoclonia with absences [EMA]) consists of a triad of symptoms including eyelid myoclonia that may be accompanied by absence seizures, eye closure-induced EEG paroxysms or seizures, and photosensitivity. The age of onset ranges between 2 and 14 years with symptoms peaking between 6 and 8 years of age. Though investigation of the clinical, EEG, and neurological features of JS has occurred, neurocognitive functioning has not been well-delineated despite suggestion that a subtype of the syndrome is characterized in part by cognitive impairment...
November 2015: Epilepsy & Behavior: E&B
Daniel Nichol, Peter Jeavons, Alexander G Fletcher, Robert A Bonomo, Philip K Maini, Jerome L Paul, Robert A Gatenby, Alexander R A Anderson, Jacob G Scott
The increasing rate of antibiotic resistance and slowing discovery of novel antibiotic treatments presents a growing threat to public health. Here, we consider a simple model of evolution in asexually reproducing populations which considers adaptation as a biased random walk on a fitness landscape. This model associates the global properties of the fitness landscape with the algebraic properties of a Markov chain transition matrix and allows us to derive general results on the non-commutativity and irreversibility of natural selection as well as antibiotic cycling strategies...
September 2015: PLoS Computational Biology
Marina Trivisano, Pasquale Striano, Jacopo Sartorelli, Lucio Giordano, Monica Traverso, Patrizia Accorsi, Simona Cappelletti, Dianela Judith Claps, Federico Vigevano, Federico Zara, Nicola Specchio
Chromodomain helicase DNA-binding protein 2 (CHD2) gene mutations have been reported in patients with myoclonic-atonic epilepsy (MAE), as well as in patients with Lennox-Gastaut, Dravet, and Jeavons syndromes and other epileptic encephalopathies featuring generalized epilepsy and intellectual disability. The aim of this study was to assess the impact of CHD2 mutations in a series of patients with MAE. Twenty patients affected by MAE were included in the study. We analyzed antecedents, age at onset, seizure semiology and frequency, EEG, treatment, and neuropsychological outcome...
October 2015: Epilepsy & Behavior: E&B
Lei Xu, Peter Jeavons
Leader election in anonymous rings and complete networks is a very practical problem in distributed computing. Previous algorithms for this problem are generally designed for a classical message passing model where complex messages are exchanged. However, the need to send and receive complex messages makes such algorithms less practical for some real applications. We present some simple synchronous algorithms for distributed leader election in anonymous rings and complete networks that are inspired by the development of the neural system of the fruit fly...
November 2015: International Journal of Neural Systems
Jenny Clements, Richard Jeavons, Craig White, Ian McMurtry
BACKGROUND: Fractures of the pelvis and acetabulum are relatively rare, with a reported incidence of 3% to 8% of all adult fractures, but occur in approximately 20% of all polytrauma cases. They have high associated morbidity (40% to 50%) and mortality (5% to 30%). It is recommended that an external compression splint be applied in the presence of a suspected pelvic fracture before transfer and definitive investigation and management. CASE REPORT: Two cases are presented in which these recommendations were met and the patients underwent computed tomography (CT) scanning upon arrival to the emergency department at a major trauma center with the pelvic binder in situ...
November 2015: Journal of Emergency Medicine
Andrew James Berg, Cyrus Dokhanian Jensen, Richard Paul Jeavons, Guru Raj Reddy, Tai Freisem
BACKGROUND: Vertebrobasilar stroke associated with the anterior approach to the cervical spine is rare and has not been reported in cervical disc arthroplasty surgery. We report the case of a 60-year-old patient who underwent cervical disc arthroplasty at C4-5, C5-6 and C6-7. Postoperatively, due to symptoms and signs of a cerebellar stroke, magnetic resonance imaging of the brain was obtained confirming this diagnosis. Despite thorough investigation no specific identifiable cause for the stroke has been identified...
2015: International Journal of Spine Surgery
Christina Jang, Sandya Jalapu, Moe Thuzar, Phillip W Law, Susanne Jeavons, Johanna L Barclay, Ken K Y Ho
PET-CT using (18)F-FDG is employed for detecting brown adipose tissue (BAT) in humans. Alternative methods are needed because of the radiation and cost of PET-CT imaging. The aim was to evaluate the accuracy of infrared thermography (IRT) in detecting human BAT benchmarked to PET-CT imaging. Seventeen individuals underwent a total of 29 PET-CT scans, 12 of whom were studied twice, after 2 h of cold stimulation at 19°C, in parallel with measurement of skin temperatures overlying the supraclavicular (SCV) fossa and the lateral upper chest (control), before and after cold stimulation...
November 1, 2014: Physiological Reports
Anna Elisabetta Vaudano, Andrea Ruggieri, Manuela Tondelli, Pietro Avanzini, Francesca Benuzzi, Giuliana Gessaroli, Gaetano Cantalupo, Massimo Mastrangelo, Aglaia Vignoli, Carlo Di Bonaventura, Maria Paola Canevini, Bernardo Dalla Bernardina, Paolo Frigio Nichelli, Stefano Meletti
OBJECTIVE: To investigate the functional and structural brain correlates of eyelid myoclonus and absence seizures triggered by eye closure (eye closure sensitivity [ECS]). METHODS: Fifteen patients with eyelid myoclonus with absences (EMA, Jeavons syndrome), 14 patients with idiopathic generalized epilepsies (IGE) without ECS, and 16 healthy controls (HC) underwent an electroencephalography (EEG)-correlated functional magnetic resonance imaging (fMRI) and voxel brain morphometry (VBM) protocol...
September 2014: Annals of Neurology
Michael Berk, Olivia M Dean, Sue M Cotton, Susan Jeavons, Michelle Tanious, Kristy Kohlmann, Karen Hewitt, Kirsteen Moss, Christine Allwang, Ian Schapkaitz, Jenny Robbins, Heidi Cobb, Felicity Ng, Seetal Dodd, Ashley I Bush, Gin S Malhi
OBJECTIVE: Major depressive disorder (MDD) is one of the most common psychiatric disorders, conferring considerable individual, family, and community burden. To date, treatments for MDD have been derived from the monoamine hypothesis, and there is a paucity of emerging antidepressants, especially with novel mechanisms of action and treatment targets. N-acetylcysteine (NAC) is a redox-active glutathione precursor that decreases inflammatory cytokines, modulates glutamate, promotes neurogenesis, and decreases apoptosis, all of which contribute to the neurobiology of depression...
June 2014: Journal of Clinical Psychiatry
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