0000000000389831
AUTHOR
Bonithon-kopp Claire
showing 2 related works from this author
CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders
2013
International audience; BACKGROUND:The high frequency of the cystic fibrosis (CF) transmembrane conductance regulator (CFTR) gene mutation p.Arg117His in patients with congenital bilateral absence of the vas deferens (CBAVD) and in newborns screened for CF has created a dilemma.METHODS:Phenotypic and genotypic data were retrospectively collected in 179 non-newborn French individuals carrying p.Arg117His and a second CFTR mutation referred for symptoms or family history, by all French molecular genetics laboratories, referring physicians, CF care centres and infertility clinics.RESULTS:97% of the patients had the intronic T7 normal variant in cis with p.Arg117His. 89% patients were male, wit…
182 Does emergency physician prehospital management improve outcome of severe blunt trauma?
2010
Severe blunt traumas are a leading cause of premature death and handicap. The benefit for the patient of pre-hospital management by emergency physicians remains under debate because of possible delayed hospital admission. This study aimed at comparing the impact of basic life support (BLS) performed by fire brigades with advanced life support (ALS) performed by SMUR (Service Mobile d9Urgences et de Reanimation) physicians, on 30-day mortality. The FIRST study (French Intensive Care Recorded Severe Trauma) is a French observational multicentric study designed in order to describe the modalities of severe blunt trauma management. The study population was composed of trauma patients over 18 ye…