References of "D'OTREPPE DE BOUVETTE, Stéphanie"
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See detailA next-generation newborn screening pilot study: NGS on dried blood spots detects causal mutations in patients with inherited metabolic diseases.
BOEMER, François ULiege; Fasquelle, Corinne ULiege; D'OTREPPE DE BOUVETTE, Stéphanie ULiege et al

in Scientific Reports (2017), 7(1), 17641

The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview ... [more ▼]

The range of applications performed on dried blood spots (DBS) widely broadened during the past decades to now include next-generation sequencing (NGS). Previous publications provided a general overview of NGS capacities on DBS-extracted DNA but did not focus on the identification of specific disorders. We thus aimed to demonstrate that NGS was reliable for detecting pathogenic mutations on genomic material extracted from DBS. Assuming the future implementation of NGS technologies into newborn screening (NBS), we conducted a pilot study on fifteen patients with inherited metabolic disorders. Blood was collected from DBS. Whole-exome sequencing was performed, and sequences were analyzed with a specific focus on genes related to NBS. Results were compared to the known pathogenic mutations previously identified by Sanger sequencing. Causal mutations were readily characterized, and multiple polymorphisms have been identified. According to variant database prediction, an unexplained homozygote pathogenic mutation, unrelated to patient's disorder, was also found in one sample. While amount and quality of DBS-extracted DNA are adequate to identify causal mutations by NGS, bioinformatics analysis revealed critical drawbacks: coverage fluctuations between regions, difficulties in identifying insertions/deletions, and inconsistent reliability of database-referenced variants. Nevertheless, results of this study lead us to consider future perspectives regarding "next-generation" NBS. [less ▲]

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See detailRelease of cardiac biomarkers during a cycling race
LE GOFF, Caroline ULiege; Kaux, Jean-François ULiege; D'OTREPPE DE BOUVETTE, Stéphanie ULiege et al

in World Journal of Cardiovascular Diseases (2016), 6(8), 285-294

Objectives: Over the past two decades, a large interest in cardiac marker elevations has developed in endurance sports events. The intense effort is not without risk. We aim to see if the relatively ... [more ▼]

Objectives: Over the past two decades, a large interest in cardiac marker elevations has developed in endurance sports events. The intense effort is not without risk. We aim to see if the relatively cardiospecific biomarkers could show the damage on cardiac muscle cells. Methods: Fourteen cyclists were recruited for an international race (177km). We studied the release of injury related cardiac markers, risk related cardiac markers, renal function markers and blood cytology. The subjects were submitted to three blood test: one before (T0), one just after (T1) and the last one 3 hours after the race (T3). Results: Blood cytology markers, namely erythrocytes, hemoglobin, hematocrit, and average hemoglobin concentration, were found to evolve in a similar way. Renal function markers, such as creatinin, cystatin C and uric acid, showed a post effort increase that might be related to renal blood flow depletion during exercise. Cardiac and muscular markers were all increased at T1. Conclusions: Physiological stress induced by an international cycling race certainly has consequences on cardiac muscle cells. Fortunately, those blood concentration variations are more representative of a transitional state, due to an imbalance created by an intense aerobic effort maintained during several hours, rather than an irreversible injury. [less ▲]

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