Publications by authors named "Cecile Schanen"

Rapid and accurate diagnosis of SARS-CoV-2 infection is essential for the management of the COVID-19 outbreak. RT-LAMP LoopDeetect COVID-19 (LoopDeescience, France) is a rapid molecular diagnostic tool which operates with the LoopDeelab (LoopDeescience, France) device. RAPID COVID is a prospective double-blind research protocol which was conducted to evaluate the concordance between Loopdeetect COVID-19 and RT-PCR Allplex 2019 n-Cov (Seegene, Korea).

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Background: MEGDHEL is an autosomal recessive syndrome defined as 3-MEthylGlutaconic aciduria (3-MGA) with Deafness, Hepatopathy, Encephalopathy, and Leigh-like syndrome on magnetic resonance imaging, due to mutations in the SERAC1 (Serine Active Site Containing 1) gene, which plays a role in the mitochondrial cardiolipin metabolism.

Methods: We report the case of a young patient who presented with a convulsive encephalopathy, 3-methylglutaconic aciduria, deafness, and bilateral T2 hypersignals of the putamen and the thalami, who passed away at 8 years of age.

Results: Analysis of nuclear genes using an ampliSeq targeted custom panel disclosed two compound heterozygous variants in the SERAC1 gene: a nonsense substitution in exon 4, c.

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Background: Various pathogens have been suspected to play a role in the initiation or amplification of the atherosclerotic lesions. Both experimental and epidemiological arguments plead for a possible role of enterovirus in this process.

Objective: To determine the prevalence of enterovirus genome in atherosclerotic plaques, in comparison with Chlamydia pneumoniae, human cytomegalovirus (hCMV) and herpes simplex virus.

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Forensic medical personnel are at risk of exposure to blood-borne viruses including hepatitis C virus (HCV). The aim of this study was to determine prevalence of HCV markers among a cadaver population at the medicolegal institute in Lille. Seventy-seven consecutive cadavers were screened for antibodies to HCV and for HCV RNA.

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There are several interferon-alpha (IFN-alpha) subtypes. Mechanism of disparity in biological effects among members of IFN-alpha subtypes remains unexplained. Biological activity of IFN-alpha is mediated in part by induction of intracellular antiviral proteins.

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