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1.
Bioinformatics ; 28(24): 3329-31, 2012 Dec 15.
Artículo en Inglés | MEDLINE | ID: mdl-23052040

RESUMEN

GWASTools is an R/Bioconductor package for quality control and analysis of genome-wide association studies (GWAS). GWASTools brings the interactive capability and extensive statistical libraries of R to GWAS. Data are stored in NetCDF format to accommodate extremely large datasets that cannot fit within R's memory limits. The documentation includes instructions for converting data from multiple formats, including variants called from sequencing. GWASTools provides a convenient interface for linking genotypes and intensity data with sample and single nucleotide polymorphism annotation.


Asunto(s)
Estudio de Asociación del Genoma Completo/normas , Polimorfismo de Nucleótido Simple , Programas Informáticos , Genotipo , Humanos , Control de Calidad
2.
J Clin Neurophysiol ; 39(7): 575-582, 2022 Nov 01.
Artículo en Inglés | MEDLINE | ID: mdl-33606430

RESUMEN

PURPOSE: Corona virus disease 2019 (COVID-19) refers to coronavirus disease secondary to SARS-CoV2 infection mainly affecting the human respiratory system. The SARS-CoV2 has been reported to have neurotropic and neuroinvasive features and neurological sequalae with wide range of reported neurological manifestations, including cerebrovascular disease, skeletal muscle injury, meningitis, encephalitis, and demyelination, as well as seizures and focal status epilepticus. In this case series, we analyzed the continuous video-EEGs of patients with COVID-19 infection to determine the presence of specific EEG features or epileptogenicity. METHODS: All continuous video-EEG tracings done on SARS-CoV2-positive patients during a 2-week period from April 5, 2020, to April 19, 2020, were reviewed. The demographics, clinical characteristics, imaging, and EEG features were analyzed and presented. RESULTS: Of 23 patients undergoing continuous video-EEG, 16 were COVID positive and were included. Continuous video-EEG monitoring was ordered for "altered mental status" in 11 of 16 patients and for "clinical seizure" in 5 of 16 patients. None of the patients had seizures or status epilepticus as a presenting symptom of COVID-19 infection. Instead, witnessed clinical seizures developed as results of COVID-19-related medical illness(es): anoxic brain injury, stroke/hemorrhage, lithium (Li) toxicity (because of kidney failure), hypertension, and renal disease. Three patients required therapeutic burst suppression because of focal nonconvulsive status epilepticus, status epilepticus/myoclonus secondary to anoxic injury from cardiac arrest, and one for sedation (and with concomitant EEG abnormalities secondary to Li toxicity). CONCLUSIONS: In this observational case series of 16 patients with COVID-19 who were monitored with continuous video-EEG, most patients experienced a nonspecific encephalopathy. Clinical seizures and electrographic status epilepticus were the second most commonly observed neurological problem.


Asunto(s)
COVID-19 , Estado Epiléptico , Humanos , COVID-19/complicaciones , ARN Viral/uso terapéutico , SARS-CoV-2 , Estado Epiléptico/diagnóstico , Convulsiones/diagnóstico , Convulsiones/etiología , Convulsiones/tratamiento farmacológico , Electroencefalografía/métodos
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