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https://www.readbyqxmd.com/read/28427564/inflammation-in-epileptic-encephalopathies
#1
Oleksii Shandra, Solomon L Moshé, Aristea S Galanopoulou
West syndrome (WS) is an infantile epileptic encephalopathy that manifests with infantile spasms (IS), hypsarrhythmia (in ~60% of infants), and poor neurodevelopmental outcomes. The etiologies of WS can be structural-metabolic pathologies (~60%), genetic (12%-15%), or of unknown origin. The current treatment options include hormonal treatment (adrenocorticotropic hormone and high-dose steroids) and the GABA aminotransferase inhibitor vigabatrin, while ketogenic diet can be given as add-on treatment in refractory IS...
2017: Advances in Protein Chemistry and Structural Biology
https://www.readbyqxmd.com/read/28424778/estimation-of-time-dependent-reproduction-numbers-for-porcine-reproductive-and-respiratory-syndrome-across-different-regions-and-production-systems-of-the-us
#2
Andréia G Arruda, Moh A Alkhamis, Kimberly VanderWaal, Robert B Morrison, Andres M Perez
Porcine reproductive and respiratory syndrome (PRRS) is, arguably, the most impactful disease for the North American swine industry, due to its known considerable economic losses. The Swine Health Monitoring Project (SHMP) monitors and reports weekly new PRRS cases in 766 sow herds across the US. The time-dependent reproduction number (TD-R) is a measure of a pathogen's transmissibility. It may serve to capture and report PRRS virus (PRRSV) spread at the regional and system levels. The primary objective of the study here was to estimate the TD-R values for PRRSV using regional and system-level PRRS data, and to contrast it with commonly used metrics of disease, such as incidence estimates and space-time clusters...
2017: Frontiers in Veterinary Science
https://www.readbyqxmd.com/read/28417301/overview-of-coronary-heart-disease-risk-initiatives-in-south-asia
#3
REVIEW
Ankur Kalra, Deepak L Bhatt, Sanjay Rajagopalan, Kunal Suri, Sundeep Mishra, Romaina Iqbal, Salim S Virani
PURPOSE OF REVIEW: Cardiovascular disease (CVD) is now the leading cause of morbidity and mortality worldwide. Industrialization and economic growth have led to an unprecedented increment in the burden of CVD and their risk factors in less industrialized regions of the world. While there are abundant data on CVD and their risk factors from longitudinal cohort studies done in the West, good-quality data from South Asia are lacking. RECENT FINDINGS: Several multi-institutional, observational, prospective registries, and epidemiologic cohorts in South Asia have been established to systematically evaluate the burden of CVD and their risk factors...
June 2017: Current Atherosclerosis Reports
https://www.readbyqxmd.com/read/28401986/auditory-processing-following-infantile-spasms-an-event-related-potential-study
#4
Tangunu Fosi, Klaus Werner, Stewart G Boyd, Michelle De Haan, Rod C Scott, Brian G Neville
OBJECTIVES: To investigate acoustic auditory processing in patients with recent infantile spasms (IS). METHODS: Patients (n = 22; 12 female; median age 8 months; range 5-11 months) had normal preceding development, brain magnetic resonance imaging (MRI), and neurometabolic testing (West syndrome of unknown cause, uWS). Controls were healthy babies (n = 22; 11 female; median age 6 months; range 3-12 months). Event-related potentials (ERPs) and psychometry (Bayley Scales of Infant Development, Second Edition, BSID-II) took place at a month following IS remission...
April 12, 2017: Epilepsia
https://www.readbyqxmd.com/read/28400229/clinical-features-and-surgical-outcomes-in-patients-with-cerebellopontine-angle-hemangioblastomas-a-retrospective-series-of-23-cases
#5
Jian Cheng, Wenke Liu, Si Zhang, Ding Lei, Xuhui Hui
OBJECTIVE: Hemangioblastomas in the cerebellopontine angle (CPA) are uncommon and have rarely been reported. They may be easily misdiagnosed because of the atypical location, clinical and imaging features. The present study aimed to characterize clinical and radiological features, treatment strategies and outcomes in these rare lesions and to investigate various factors that may affect postoperative outcomes. METHODS: The medical records of patients with CPA hemangioblastomas who underwent surgery from 2003 to 2016 at the West China Hospital were reviewed retrospectively and statistically analyzed...
April 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28400021/east-and-west-african-milk-products-are-reservoirs-for-human-and-livestock-associated-staphylococcus-aureus
#6
Christoph Jans, Axel Merz, Sophia Johler, Mario Younan, Sabine A Tanner, Dasel Wambua Mulwa Kaindi, John Wangoh, Bassirou Bonfoh, Leo Meile, Taurai Tasara
Staphylococcus aureus frequently isolated from milk products in sub-Saharan Africa (SSA) is a major pathogen responsible for food intoxication, human and animal diseases. SSA hospital-derived strains are well studied but data on the population structure of foodborne S. aureus required to identify possible staphylococcal food poisoning sources is lacking. Therefore, the aim was to assess the population genetic structure, virulence and antibiotic resistance genes associated with milk-derived S. aureus isolates from Côte d'Ivoire, Kenya and Somalia through spa-typing, MLST, and DNA microarray analysis...
August 2017: Food Microbiology
https://www.readbyqxmd.com/read/28397999/scalp-eeg-ictal-gamma-and-beta-activity-during-infantile-spasms-evidence-of-focality
#7
Hiroki Nariai, Jules Beal, Aristea S Galanopoulou, Wenzhu B Mowrey, Stephan Bickel, Yoshimi Sogawa, Rana Jehle, Shlomo Shinnar, Solomon L Moshé
OBJECTIVE: We investigated temporal and spatial characteristics of ictal gamma and beta activity on scalp EEG during spasms in patients with West syndrome (WS) to evaluate potential focal cortical onset. METHODS: A total of 1,033 spasms from 34 patients with WS of various etiologies were analyzed on video-electroencephalography (EEG) using time-frequency analysis. Ictal gamma (35-90 Hz) and beta (15-30 Hz) activities were correlated with visual symmetry of spasms, objective EMG (electromyography) analysis, and etiology of WS...
April 11, 2017: Epilepsia
https://www.readbyqxmd.com/read/28396467/offering-patients-more-how-the-west-africa-ebola-outbreak-can-shape-innovation-in-therapeutic-research-for-emerging-and-epidemic-infections
#8
REVIEW
Amanda M Rojek, Peter W Horby
Although, after an epidemic of over 28 000 cases, there are still no licensed treatments for Ebola virus disease (EVD), significant progress was made during the West Africa outbreak. The pace of pre-clinical development was exceptional and a number of therapeutic clinical trials were conducted in the face of considerable challenges. Given the on-going risk of emerging infectious disease outbreaks in an era of unprecedented population density, international travel and human impact on the environment it is pertinent to focus on improving the research and development landscape for treatments of emerging and epidemic-prone infections...
May 26, 2017: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://www.readbyqxmd.com/read/28392943/report-from-a-survey-of-parents-regarding-the-use-of-cannabidiol-medicinal-cannabis-in-mexican-children-with-refractory-epilepsy
#9
Carlos G Aguirre-Velázquez
Structured online surveys were used to explore the experiences of the parents of children with refractory epilepsy using medicinal cannabis in Mexico during September 2016. The surveys, which were completed in full, were reviewed, and 53 cases of children aged between 9 months and 18 years were identified. Of these, 43 cases (82%) were from Mexico and 10 (18%) were from Latin American countries. Of the 43 Mexican cases, the diagnoses were as follows: 20 cases (47%) had Lennox-Gastaut syndrome (LGS); 13 cases (30%) had unspecified refractory epilepsy (URE); 8 cases (19%) had West syndrome (WS); 1 case (2%) had Doose syndrome (DS); and 1 case (2%) had Ohtahara syndrome (OS)...
2017: Neurology Research International
https://www.readbyqxmd.com/read/28386848/identification-of-de-novo-dnmt3a-mutations-that-cause-west-syndrome-by-using-whole-exome-sequencing
#10
Zhenwei Liu, Zhongshan Li, Xiao Zhi, Yaoqiang Du, Zhongdong Lin, Jinyu Wu
Epileptic encephalopathies (EEs) are a group of severe neurodevelopmental disorders with extreme genetic heterogeneity. Recent trio-based whole-exome sequencing (WES) studies have demonstrated that de novo mutations (DNMs) play prominent roles in severe EE. In this study, we searched for potential causal DNMs by using high-coverage WES of four unrelated Chinese parent-offspring trios affected by West syndrome. Through extensive bioinformatic analysis, we identified three novel DNMs in DNMT3A, CDKL5, and MAMDC2 in three trios and two compound heterozygous mutations in KMT2A in one trio...
April 6, 2017: Molecular Neurobiology
https://www.readbyqxmd.com/read/28384205/viral-hemorrhagic-fevers-in-the-tihamah-region-of-the-western-arabian-peninsula
#11
REVIEW
Fathiah Zakham, Mohammed Al-Habal, Rola Taher, Altaf Alaoui, Mohammed El Mzibri
Viral hemorrhagic fever (VHF) refers to a group of diseases characterized by an acute febrile syndrome with hemorrhagic manifestations and high mortality rates caused by several families of viruses that affect humans and animals. These diseases are typically endemic in certain geographical regions and sometimes cause major outbreaks. The history of hemorrhagic fever in the Arabian Peninsula refers to the 19th century and most outbreaks were reported in the Tihamah region-the Red Sea coastal plain of the Arabian Peninsula in the west and southwest of Saudi Arabia and Yemen...
April 2017: PLoS Neglected Tropical Diseases
https://www.readbyqxmd.com/read/28379373/genetic-and-phenotypic-heterogeneity-suggest-therapeutic-implications-in-scn2a-related-disorders
#12
Markus Wolff, Katrine M Johannesen, Ulrike B S Hedrich, Silvia Masnada, Guido Rubboli, Elena Gardella, Gaetan Lesca, Dorothée Ville, Mathieu Milh, Laurent Villard, Alexandra Afenjar, Sandra Chantot-Bastaraud, Cyril Mignot, Caroline Lardennois, Caroline Nava, Niklas Schwarz, Marion Gérard, Laurence Perrin, Diane Doummar, Stéphane Auvin, Maria J Miranda, Maja Hempel, Eva Brilstra, Nine Knoers, Nienke Verbeek, Marjan van Kempen, Kees P Braun, Grazia Mancini, Saskia Biskup, Konstanze Hörtnagel, Miriam Döcker, Thomas Bast, Tobias Loddenkemper, Lily Wong-Kisiel, Friedrich M Baumeister, Walid Fazeli, Pasquale Striano, Robertino Dilena, Elena Fontana, Federico Zara, Gerhard Kurlemann, Joerg Klepper, Jess G Thoene, Daniel H Arndt, Nicolas Deconinck, Thomas Schmitt-Mechelke, Oliver Maier, Hiltrud Muhle, Beverly Wical, Claudio Finetti, Reinhard Brückner, Joachim Pietz, Günther Golla, Dinesh Jillella, Karen M Linnet, Perrine Charles, Ute Moog, Eve Õiglane-Shlik, John F Mantovani, Kristen Park, Marie Deprez, Damien Lederer, Sandrine Mary, Emmanuel Scalais, Laila Selim, Rudy Van Coster, Lieven Lagae, Marina Nikanorova, Helle Hjalgrim, G Christoph Korenke, Marina Trivisano, Nicola Specchio, Berten Ceulemans, Thomas Dorn, Katherine L Helbig, Katia Hardies, Hannah Stamberger, Peter de Jonghe, Sarah Weckhuysen, Johannes R Lemke, Ingeborg Krägeloh-Mann, Ingo Helbig, Gerhard Kluger, Holger Lerche, Rikke S Møller
Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients. We found that (i) encephalopathies with infantile/childhood onset epilepsies (≥3 months of age) occur almost as often as those with an early infantile onset (<3 months), and are thus more frequent than previously reported; (ii) distinct phenotypes can be seen within the late onset group, including myoclonic-atonic epilepsy (two patients), Lennox-Gastaut not emerging from West syndrome (two patients), and focal epilepsies with an electrical status epilepticus during slow sleep-like EEG pattern (six patients); and (iii) West syndrome constitutes a common phenotype with a major recurring mutation (p...
March 4, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28373264/association-of-circulating-transcriptomic-profiles-with-mortality-in-sickle-cell-disease
#13
Ankit A Desai, Zhengdeng Lei, Neil Bahroos, Mark Maienschein-Cline, Santosh L Saraf, Xu Zhang, Binal N Shah, Seyed M Nouraie, Taimur Abbasi, Amit R Patel, Roberto M Lang, Yves Lussier, Joe G N Garcia, Victor R Gordeuk, Roberto F Machado
Sickle cell disease (SCD) complications are associated with increased morbidity and risk of mortality. We sought to identify a circulating transcriptomic profile predictive of these poor outcomes in SCD. Training and Testing cohorts consisting of adult patients with SCD were recruited and prospectively followed. A pathway-based signature derived from grouping peripheral blood mononuclear cell transcriptomes distinguished two patient clusters with differences in survival in the Training cohort. These findings were validated in a Testing cohort where the association between Cluster 1 molecular profiling and mortality remained significant in a fully adjusted model...
April 3, 2017: Blood
https://www.readbyqxmd.com/read/28355750/-association-between-subjective-and-objective-sleepiness-in-obstructive-sleep-apnea-hypopnea-syndrome-patients
#14
T M Li, R Ren, L Tan, F Lei, X D Tang
Objective: To examine the association between subjective sleepiness and objective sleepiness in Chinese obstructive sleep apnea hypopnea syndrome (OSAHS) patients. Methods: A total of 1 660 patients meeting the diagnostic criteria of OSAHS based on overnight polysomnography from West China Hospital, Sichuan University in the period from Jul 2010 to Jul 2014 were enrolled in the study. The Epworth Sleepiness Scale (ESS) and Multiple Sleep Latency Test (MSLT) were to evaluate subjective and objective sleepiness, respectively...
March 28, 2017: Zhonghua Yi Xue za Zhi [Chinese medical journal]
https://www.readbyqxmd.com/read/28331982/autoantibodies-in-children-with-juvenile-dermatomyositis-a-single-centre-experience-from-north-west-india
#15
Altaf Hussain, Amit Rawat, Ankur Kumar Jindal, Anju Gupta, Surjit Singh
The objective of this study is to determine autoantibody profile in children with juvenile dermatomyositis (JDM). Children who were diagnosed with JDM (either recently diagnosed during the study period or follow-up patients) were included in the study. Autoantibodies were detected with commercially available Immunodot kit. Thirty patients were included in the study. Nine out of thirty patients (30%) were positive for one of the 12 autoantibodies tested. Anti-SRP antibody was most common antibody detected in 3 patients followed by anti-MDA-5 antibody in 2 patients; while anti-Jo1 antibody, anti-TIF1-γ antibody, anti-Mi-2 antibody, and anti-PM-Scl antibody were positive in 1 patient each...
May 2017: Rheumatology International
https://www.readbyqxmd.com/read/28325891/whole-exome-sequencing-identifies-a-novel-de-novo-mutation-in-dync1h1-in-epileptic-encephalopathies
#16
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/28318525/psoriasis-and-nonalcoholic-fatty-liver-disease
#17
J M Carrascosa, C Bonanad, E Dauden, R Botella, A Olveira-Martín
Nonalcoholic fatty liver disease (NAFLD) is the most prevalent liver condition in the West. The prevalence and severity of NAFLD is higher and the prognosis worse in patients with psoriasis. The pathogenic link between psoriasis and NAFLD is chronic inflammation and peripheral insulin resistance, a common finding in diseases associated with psoriasis. NAFLD should therefore be ruled out during the initial evaluation of patients with psoriasis, in particular if they show signs of metabolic syndrome and require systemic treatment...
March 16, 2017: Actas Dermo-sifiliográficas
https://www.readbyqxmd.com/read/28301049/determining-the-rate-of-underrecognition-of-west-nile-virus-neurologic-disease-in-the-province-of-quebec-in-2012
#18
Gilles Delage, Sophie Dubuc, Yves Grégoire, Anne-Marie Lowe, France Bernier, Marc Germain
BACKGROUND: During a major outbreak of West Nile virus (WNV) infection in the province of Quebec in 2012, public health authorities (PHAs) suspected underrecognition of West Nile neurologic disease (WNND). With data on acute infections detected in blood donors, an estimate of the degree of underrecognition was produced. STUDY DESIGN AND METHODS: All 2012 donors were tested for WNV infection with the use of reverse transcription-polymerase chain reaction (RT-PCR)...
May 2017: Transfusion
https://www.readbyqxmd.com/read/28288483/efficacy-of-treatments-for-infantile-spasms-a-systematic-review
#19
Ji Min Song, Jongsung Hahn, Se Hee Kim, Min Jung Chang
OBJECTIVES: West syndrome (also known as infantile spasm because of its main seizure type) is a rare form of epilepsy that begins during early infancy. Recent guidelines and reviews on West syndrome recommend the use of adrenocorticotropic hormone steroids, or vigabatrin, as the first-line treatment. However, West syndrome remains to be one of the most challenging epilepsies to treat. Here, we systematically reviewed the current literature obtained during the previous decade. This article provides an overview of the current treatment of infantile spasms...
March 2017: Clinical Neuropharmacology
https://www.readbyqxmd.com/read/28264652/insight-into-snps-and-epitopes-of-e-protein-of-newly-emerged-genotype-i-isolates-of-jev-from-midnapur-west-bengal-india
#20
Shyamashree Banerjee, Parth Sarthi Sen Gupta, Amal Kumar Bandyopadhyay
BACKGROUND: Japanese encephalitis virus (JEV) is a mosquito-borne flavivirus that causes Japanese Encephalitis (JE) and Acute Encephalitis Syndrome (AES) in humans. Genotype-I (as co-circulating cases with Genotype-III) was isolated in 2010 (JEV28, JEV21) and then in 2011 (JEV45) from Midnapur district, West Bengal (WB) for the first time from clinical patients who were previously been vaccinated with live attenuated SA14-14-2 strain. We apply bioinformatics and immunoinformatics on sequence and structure of E protein for analysis of crucial substitutions that might cause the genotypic transition, affecting protein-function and altering specificity of epitopes...
March 6, 2017: BMC Immunology
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