Understanding the challenges, unmet needs, and expectations of mucopolysaccharidoses I, II and VI patients and their caregivers in France: a survey study.

Background: Mucopolysaccharidoses (MPS) are a group of inherited lysosomal storage diseases caused by defective enzyme activity involved in the catalysis of glycosaminoglycans. Published data on adult patients with MPS remains scarce. Therefore, the present qualitative survey study was aimed at understanding knowledge of the disease, unmet needs, expectations, care, and overall medical management of adult/adolescent patients with MPS I, II and VI and their caregivers in France.

Deletion of Induces Xanthinuria with Obstructive Nephropathy and Major Metabolic Disorders in Mice.

Background: Xanthinuria type II is a rare autosomal purine disorder. This recessive defect of purine metabolism remains an under-recognized disorder.

Methods: Mice with targeted disruption of the molybdenum cofactor sulfurase () gene were generated to enable an integrated understanding of purine disorders and evaluate pathophysiologic functions of this gene which is found in a large number of pathways and is known to be associated with autism.

Long-term evaluation of the impact of delivery modalities on anal continence in women with Crohn's disease.

Context: Crohn's disease (CD) and sphincter injury during childbirth are two risk factors for anal incontinence (AI). The long-term risk of developing AI in women with CD after childbirth has never been studied.

Goal: The main objective of the study is to assess the risk of developing severe AI after childbirth in women with CD.

Prospective evaluation of two specific IgG immunoassays (HemosIL AcuStar HIT-IgG and HAT45G ) for the diagnosis of heparin-induced thrombocytopenia: A Bayesian approach.

Introduction: The accurate diagnosis of heparin-induced thrombocytopenia (HIT) is essential to ensure adequate treatment and prevent complications. First step diagnosis test are immunoassays including enzyme-linked immunosorbent assays (ELISAs) and rapid immunoassays.

Methods: Using a Bayesian approach, we prospectively evaluated the performance of the IgG PF4/polyvinylsulfonate ELISA and a chemiluminescent immunoassay (CLIA), which are specific for IgG and use the same antigenic target to detect HIT antibodies.

Impact of antenatal corticosteroids on head circumference of full-term newborns: A French multicenter cohort study.

Introduction: Our main objective was to evaluate whether antenatal corticosteroids increase the risk of small head circumference in children born at term. Secondary objectives were to evaluate whether they increase the risk of small birthweight and birth length among those children.

Material And Methods: A historical cohort included 275 270 live term born children between 2000 and 2013 in 175 French maternity units.