GenomeMixer and TRUST: Novel bioinformatics tools to improve reliability of Non-Invasive Prenatal Testing (NIPT) for fetal aneuploidies.

Non-invasive prenatal testing (NIPT) screens for common fetal chromosomal abnormalities through analysis of circulating cell-free DNA in maternal blood by massive parallel sequencing. NIPT reliability relies on both the estimation of the fetal fraction (ff) and on the sequencing depth (sd) but how these parameters are linked is unknown. Several bioinformatics tools have been developed to determine the ff but there is no universal ff threshold applicable across diagnostics laboratories.

Cardiac dyspnea risk zones in the South of France identified by geo-pollution trends study.

The incidence of cardiac dyspnea (CD) and the distribution of pollution in the south of France suggests that environmental pollution may have a role in disease triggering. CD is a hallmark symptom of heart failure leading to reduced ability to function and engage in activities of daily living. To show the impact of short-term pollution exposure on the increment of CD emergency room visits, we collected pollutants and climate measurements on a daily basis and 43,400 events of CD in the Région Sud from 2013 to 2018.

NiPTUNE: an automated pipeline for noninvasive prenatal testing in an accurate, integrative and flexible framework.

Noninvasive prenatal testing (NIPT) consists of determining fetal aneuploidies by quantifying copy number alteration from the sequencing of cell-free DNA (cfDNA) from maternal blood. Due to the presence of cfDNA of fetal origin in maternal blood, in silico approaches have been developed to accurately predict fetal aneuploidies. Although NIPT is becoming a new standard in prenatal screening of chromosomal abnormalities, there are no integrated pipelines available to allow rapid, accurate and standardized data analysis in any clinical setting.

Frequency and predictors of post-traumatic stress disorder after stroke: a pilot study.

Objective: Few data exist about post-stroke symptoms of post-traumatic stress disorder (sPTSD) and none on DSM-IV formally diagnosed PTSD (fdPTSD). We investigated the frequency and predictors of sPTSD and fdPTSD 1-6 months after a nondisabling ischemic stroke (IS) or transient ischemic attack (TIA).

Methods: Consecutive patients were assessed for sPTSD (Impact of Events Scale-Revised, IES-R, significant if >30) and fdPTSD (PTSD-Interview).

[Medico-economic assessment of the Pontoise Hospital stroke unit].

Introduction: Annually, approximately 120,000 people in France have a stroke. Various controlled studies have pointed out the benefits of treatment in a stroke unit (SU). The objective of this study was to evaluate, from a medical point of view, the economic impact of the Pontoise Hospital SU.