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https://www.readbyqxmd.com/read/28802771/dmd-and-west-syndrome
#1
Ruxandra Cardas, Catrinel Iliescu, Nina Butoianu, Andreea Seferian, Svetlana Gataullina, Elena Gargaun, Juliette Nectoux, Thierry Bienvenu, Dana Craiu, Teresa Gidaro, Laurent Servais
Duchenne Muscular Dystrophy (DMD) is the most frequent muscular dystrophy in childhood, with a worldwide incidence of one in 5000 live male births. It is due to mutations in the dystrophin gene leading to absence of full-length dystrophin protein. Central nervous system involvement is well-known in Duchenne Muscular Dystrophy. The multiple dystrophin isoforms expressed in brain have important roles in cerebral development and functioning. The association of Duchenne Muscular Dystrophy with seizures has been reported, and there is a higher prevalence of epilepsy in Duchenne Muscular Dystrophy patients (between 6...
July 19, 2017: Neuromuscular Disorders: NMD
https://www.readbyqxmd.com/read/28802383/absence-of-kcnq4-mutation-in-bengali-families-with-adnshl-originated-from-west-bengal-india
#2
Bidisha Adhikary, Biswabandhu Bankura, Subhradev Biswas, Silpita Paul, Madhusudan Das
OBJECTIVE: Autosomal Dominant Non-Syndromic Hearing Loss (ADNSHL) is extremely heterogeneous in nature. More than 60 loci with 30 different genes have been identified linked to ADNSHL. Mutation in KCNQ4 is considered as one of the most common causative factor responsible for ADNSHL. No study focused on the genetic alteration of KCNQ4 gene among hearing loss patients in India. The present study for the first time was carried out to determine the mutation spectrum of KCNQ4 gene in ADNSHL patients of West Bengal state, India...
September 2017: International Journal of Pediatric Otorhinolaryngology
https://www.readbyqxmd.com/read/28799513/ketogenic-diets-in-the-treatment-of-epilepsy
#3
Maurizio Elia, Joerg Klepper, Baerbel Leiendecker, Hans Hartmann
BACKGROUND: Although a larger number of antiepileptic drugs became available in the last decades, epilepsy remains drug-resistant in approximately a third of patients. Ketogenic diet (KD), first proposed at the beginning of the last century, is complex and has anticonvulsant effects, yet not completely understood. Over the last decades, different types of ketogenic diets (KDs) have been developed, namely classical KD and modified Atkins diet (MAD). They offer an effective alternative for children and adults with drug-resistant epilepsies...
August 9, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28794986/west-syndrome-in-three-patients-with-brain-injury-and-a-benign-course
#4
Angelo Russo, Michael Duchowny, Antonella Boni, Melania Giannotta, Melissa Filippini, Giuseppe Gobbi
Infants with West Syndrome and underlying structural pathology typically experience persistent symptomatic focal seizures and intellectual disability. We performed a retrospective case review of 84 patients with West Syndrome evaluated at one institution between 1990 and 2013. From this group we identified three patients with West syndrome and congenital hemiplegia who later developed genetic epilepsy features and had normal intellectual development. This outcome is highly unusual and raises important questions about the relationship and possible influence of genetic epilepsy in patients with pre-existent West Syndrome and brain injury...
2017: Epilepsy & Behavior Case Reports
https://www.readbyqxmd.com/read/28780738/john-p-craig-md-mph-physician-scientist-educator-and-mentor-1923-2016
#5
M A Haseeb, Pascal James Imperato
John P. Craig (1923-2016) was an eminent physician-scientist, gifted educator, and greatly valued mentor. Born in West Liberty, Ohio on 29 November 1923, he attended Oberlin College, and received his medical degree from Case Western Reserve University, School of Medicine. This was followed by an internship at Yale University Medical Center, and then service in the U.S. Army during the Korean War. He was a battalion surgeon, preventive medicine officer, and epidemiologist. While in Korea, he conducted important investigations of hemorrhagic fever among American troops...
August 5, 2017: Journal of Community Health
https://www.readbyqxmd.com/read/28780406/novel-mutations-in-the-cdkl5-gene-in-complex-genotypes-associated-with-west-syndrome-with-variable-phenotype-first-description-of-somatic-mosaic-state
#6
Marwa Ben Jdila, Abir Ben Issa, Boudour Khabou, Bochra Ben Rhouma, Fatma Kamoun, Leila Ammar-Keskes, Chahnez Triki, Faiza Fakhfakh
INTRODUCTION: West syndrome is a rare epileptic encephalopathy of early infancy, characterized by epileptic spasms, hypsarrhythmia, and psychomotor retardation beginning in the first year of life. METHODS: The present study reports the clinical, molecular and bioinformatic investigation in the three studied West patients. RESULTS: The results revealed a complex genotype with more than one mutation in each patient including the known mutations c...
August 2, 2017: Clinica Chimica Acta; International Journal of Clinical Chemistry
https://www.readbyqxmd.com/read/28769568/incidence-causative-drugs-and-economic-consequences-of-drug-induced-sjs-ten-and-sjs-ten-overlap-and-potential-drug-drug-interactions-during-treatment-a-retrospective-analysis-at-an-indonesian-referral-hospital
#7
Rizky Abdulah, Tazkia F Suwandiman, Nadhira Handayani, Dika P Destiani, Auliya A Suwantika, Melisa I Barliana, Keri Lestari
BACKGROUND: Stevens-Johnson syndrome (SJS) and toxic epidermal necrolysis (TEN) are acute life-threatening adverse drug reactions (ADRs) that are commonly caused by medications. Apart from their contribution to morbidity and mortality, these diseases may also present substantial consequences on health care resources. In this study, we aimed to identify the incidence, causative drugs, and economic consequences of these serious ADRs and potential drug-drug interactions (DDIs) during treatment...
2017: Therapeutics and Clinical Risk Management
https://www.readbyqxmd.com/read/28762286/childhood-onset-epileptic-encephalopathy-associated-with-isolated-focal-cortical-dysplasia-and-a-novel-tsc1-germline-mutation
#8
Hannes Hoelz, Eva Coppenrath, Konstanze Hoertnagel, Timo Roser, Moritz Tacke, Lucia Gerstl, Ingo Borggraefe
Tuberous sclerosis complex (TSC) is an autosomal-dominant inheritable neurocutaneous disease due to mutations within the TSC1 and TSC2 genes. Many patients present with West syndrome, a severe epilepsy syndrome characterized by the triad of infantile spasms, an interictal electroencephalogram (EEG) pattern termed hypsarrhythmia (continuous slow activity with an amplitude higher than 300 µV and multiregional spikes/polyspikes/sharp waves) and developmental regression. In this study, we report on a previously healthy patient with positive family history of epilepsy with new-onset epileptic encephalopathy at the age of 9 years...
March 1, 2017: Clinical EEG and Neuroscience: Official Journal of the EEG and Clinical Neuroscience Society (ENCS)
https://www.readbyqxmd.com/read/28760171/utility-of-ambulance-data-for-real-time-syndromic-surveillance-a-pilot-in-the-west-midlands-region-united-kingdom
#9
Dan Todkill, Paul Loveridge, Alex J Elliot, Roger A Morbey, Obaghe Edeghere, Tracy Rayment-Bishop, Chris Rayment-Bishop, John E Thornes, Gillian Smith
Introduction The Public Health England (PHE; United Kingdom) Real-Time Syndromic Surveillance Team (ReSST) currently operates four national syndromic surveillance systems, including an emergency department system. A system based on ambulance data might provide an additional measure of the "severe" end of the clinical disease spectrum. This report describes the findings and lessons learned from the development and preliminary assessment of a pilot syndromic surveillance system using ambulance data from the West Midlands (WM) region in England...
August 1, 2017: Prehospital and Disaster Medicine
https://www.readbyqxmd.com/read/28755841/gene-expression-profiles-in-whole-blood-and-associations-with-metabolic-dysregulation-in-obesity
#10
Amanda J Cox, Ping Zhang, Tiffany J Evans, Rodney J Scott, Allan W Cripps, Nicholas P West
BACKGROUND: Gene expression data provides one tool to gain further insight into the complex biological interactions linking obesity and metabolic disease. This study examined associations between blood gene expression profiles and metabolic disease in obesity. METHODS: Whole blood gene expression profiles, performed using the Illumina HT-12v4 Human Expression Beadchip, were compared between (i) individuals with obesity (O) or lean (L) individuals (n=21 each), (ii) individuals with (M) or without (H) Metabolic Syndrome (n=11 each) matched on age and gender...
July 26, 2017: Obesity Research & Clinical Practice
https://www.readbyqxmd.com/read/28752202/pediatric-central-nervous-system-hemangioblastomas-different-from-adult-forms-a-retrospective-series-of-25-cases
#11
Jian Cheng, Wenke Liu, Xuhui Hui, Si Zhang, Yan Ju
BACKGROUND: Pediatric hemangioblastomas are rare, and the clinical features, timing of surgical intervention, optimal treatment, and clinical outcomes are still unclear. METHODS: We performed a retrospective study of all patients with CNS hemangioblastomas who were treated at West China Hospital from January 2003 to March 2015. Patients under the age of 16 years were included in the study. The medical records of these patients were reviewed and statistically analyzed...
July 27, 2017: Acta Neurochirurgica
https://www.readbyqxmd.com/read/28728851/predictors-of-incident-heart-failure-in-patients-after-an-acute-coronary-syndrome-the-lipid-heart-failure-risk-prediction-model
#12
Andrea Driscoll, Elizabeth H Barnes, Stefan Blankenberg, David M Colquhoun, David Hunt, Paul J Nestel, Ralph A Stewart, Malcolm J West, Harvey D White, John Simes, Andrew Tonkin
BACKGROUND: Coronary heart disease is a major cause of heart failure. Availability of risk-prediction models that include both clinical parameters and biomarkers is limited. We aimed to develop such a model for prediction of incident heart failure. METHODS: A multivariable risk-factor model was developed for prediction of first occurrence of heart failure death or hospitalization. A simplified risk score was derived that enabled subjects to be grouped into categories of 5-year risk varying from <5% to >20%...
June 30, 2017: International Journal of Cardiology
https://www.readbyqxmd.com/read/28722564/guillain-barr%C3%A3-syndrome-and-chikungunya-description-of-all-cases-diagnosed-during-the-2014-outbreak-in-the-french-west-indies
#13
Stephanie Balavoine, Mathilde Pircher, Bruno Hoen, Cecile Herrmann-Storck, Fatiha Najioullah, Benjamin Madeux, Aissatou Signate, Ruddy Valentino, Annie Lannuzel, Magali Saint Louis, Sylvie Cassadou, André Cabié, Kinda Schepers
The Guillain-Barré syndrome (GBS) has been reported as a possible complication of acute chikungunya infection. The chikungunya epidemics, which occurred in Martinique and Guadeloupe in 2014, affected 308,000 people in these two islands. GBS occurred during or immediately after acute chikungunya infection in 13 patients (10 men, three women; mean age: 61 years). Median time from acute chikungunya to GBS onset was 9 days. Twelve patients were treated with intravenous polyvalent immunoglobulins, nine of whom improved within 7 days...
July 3, 2017: American Journal of Tropical Medicine and Hygiene
https://www.readbyqxmd.com/read/28720713/sensory-processing-of-deep-tissue-nociception-in-the-rat-spinal-cord-and-thalamic-ventrobasal-complex
#14
Shafaq Sikandar, Steven J West, Stephen B McMahon, David L Bennett, Anthony H Dickenson
Sensory processing of deep somatic tissue constitutes an important component of the nociceptive system, yet associated central processing pathways remain poorly understood. Here, we provide a novel electrophysiological characterization and immunohistochemical analysis of neural activation in the lateral spinal nucleus (LSN). These neurons show evoked activity to deep, but not cutaneous, stimulation. The evoked responses of neurons in the LSN can be sensitized to somatosensory stimulation following intramuscular hypertonic saline, an acute model of muscle pain, suggesting this is an important spinal relay site for the processing of deep tissue nociceptive inputs...
July 2017: Physiological Reports
https://www.readbyqxmd.com/read/28711467/retrospective-study-of-jellyfish-envenomation-in-emergency-wards-in-guadeloupe-between-2010-and-2016-when-to-diagnose-irukandji-syndrome
#15
Djoudi Bouyer-Monot, Stéphane Pelczar, Serge Ferracci, Denis Boucaud-Maitre
BACKGROUND: In Guadeloupe (French West Indies), many marine envenomation cases by jellyfish are observed. Some of them might induce an Irukandji syndrome (IS). The aim of this study was to analyse the clinical features of IS from the envenomation cases in the two public hospitals in Guadeloupe, and to compare them to non-IS stings. METHODS: All jellyfish envenomation cases between the 1st of January 2010 and the 1st of September 2016, from the emergencies data-base, have been extracted...
July 13, 2017: Toxicon: Official Journal of the International Society on Toxinology
https://www.readbyqxmd.com/read/28709814/the-therapeutic-implication-of-a-novel-scn2a-mutation-associated-early-onset-epileptic-encephalopathy-with-rett-like-features
#16
Jao-Shwann Liang, Li-Ju Lin, Ming-Tao Yang, Jinn-Shyan Wang, Jyh-Feng Lu
Epileptic encephalopathies are highly heterogeneous and phenotypical disorders with different underlying genetic defects. Mutations in the SCN2A gene cause different epilepsy syndromes, including epilepsy of infancy with migrating focal seizures, Ohtahara syndrome, and West syndrome. We utilized a targeted next generation sequencing (NGS) approach on a girl with early-onset seizures and Rett-like features, including autistic behavior, limited hand function with chorea, and profound intellectual disability, to identify novel missense mutation (c...
July 11, 2017: Brain & Development
https://www.readbyqxmd.com/read/28705793/dachsous1-fat4-signaling-controls-endothelial-cell-polarization-during-lymphatic-valve-morphogenesis
#17
Francoise Pujol, Tina Hodgson, Ines Martinez-Corral, Anne-Catherine Prats, Danelle Devenport, Masatoshi Takeichi, Elisabeth Genot, Taija Mäkinen, Philippa Francis-West, Barbara Garmy-Susini, Florence Tatin
OBJECTIVE: The purpose of this study was to investigate the role of Fat4 and Dachsous1 signaling in the lymphatic vasculature. APPROACH AND RESULTS: Phenotypic analysis of the lymphatic vasculature was performed in mice lacking functional Fat4 or Dachsous1. The overall architecture of lymphatic vasculature is unaltered, yet both genes are specifically required for lymphatic valve morphogenesis. Valve endothelial cells (Prox1(high) cells) are disoriented and failed to form proper valve leaflets...
July 13, 2017: Arteriosclerosis, Thrombosis, and Vascular Biology
https://www.readbyqxmd.com/read/28705671/antibiotic-resistance-in-west-africa-a-systematic-review-and-meta-analysis
#18
REVIEW
Kerlly J Bernabé, Céline Langendorf, Nathan Ford, Jean-Baptiste Ronat, Richard A Murphy
BACKGROUND: Growing data suggest that antibiotic-resistant bacterial infections are common in low and middle-income countries. This review summarizes the microbiology of key bacterial syndromes encountered in West Africa and estimates the prevalence of antimicrobial resistance (AMR) that could compromise first-line empirical treatment. METHODS: We systematically searched for studies reporting on the epidemiology of infection and AMR in West Africa. Within each syndrome, the pooled proportion and 95% confidence intervals were calculated for each pathogen-antibiotic pair, using random effects models...
July 10, 2017: International Journal of Antimicrobial Agents
https://www.readbyqxmd.com/read/28693597/clinical-outcome-and-risk-factors-of-neonatal-sepsis-among-neonates-in-felege-hiwot-referral-hospital-bahir-dar-amhara-regional-state-north-west-ethiopia-2016-a-retrospective-chart-review
#19
Tilahun Tewabe, Seida Mohammed, Yibeltal Tilahun, Birhanie Melaku, Mequanint Fenta, Tsigiereda Dagnaw, Amare Belachew, Ashagre Molla, Habte Belete
BACKGROUND: Sepsis remains a major cause of morbidity and mortality among neonates. The risk factors and clinical outcomes of sepsis are poorly understood. Most cases of sepsis occurred mostly within the first week of newborns life related to perinatal risk factors. Late onset sepsis is related to hospital acquired infections which is seen after seven days of age. The purpose of this study was to assess clinical outcome and risk factors of neonatal sepsis in Felege Hiwot referral hospital Bahir Dar, North West Ethiopia...
July 11, 2017: BMC Research Notes
https://www.readbyqxmd.com/read/28692384/advancing-the-use-of-emergency-department-syndromic-surveillance-data-new-york-city-2012-2016
#20
Ramona Lall, Jasmine Abdelnabi, Stephanie Ngai, Hilary B Parton, Kelly Saunders, Jessica Sell, Amanda Wahnich, Don Weiss, Robert W Mathes
INTRODUCTION: The use of syndromic surveillance has expanded from its initial purpose of bioterrorism detection. We present 6 use cases from New York City that demonstrate the value of syndromic surveillance for public health response and decision making across a broad range of health outcomes: synthetic cannabinoid drug use, heat-related illness, suspected meningococcal disease, medical needs after severe weather, asthma exacerbation after a building collapse, and Ebola-like illness in travelers returning from West Africa...
July 2017: Public Health Reports
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