Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients

ML Frémond, A Hadchouel, L Berteloot, I Melki… - The Journal of Allergy …, 2021 - Elsevier
Background Gain-of-function mutations in STING1 underlie a type I interferonopathy termed
SAVI (STING-associated vasculopathy with onset in infancy). This severe disease is variably …

Identification of SPOCK2 As a Susceptibility Gene for Bronchopulmonary Dysplasia

A Hadchouel, X Durrmeyer, E Bouzigon… - American journal of …, 2011 - atsjournals.org
Rationale: Bronchopulmonary dysplasia is the most common chronic respiratory disease in
premature infants. Genetic factors might contribute to bronchopulmonary dysplasia …

[HTML][HTML] Serious games for health: three steps forwards

D Drummond, A Hadchouel, A Tesnière - Advances in Simulation, 2017 - Springer
Serious games are educational tools which are more and more used in patient and health
professional education. In this article, we discuss three main points that developers and …

[PDF][PDF] Biallelic mutations of methionyl-tRNA synthetase cause a specific type of pulmonary alveolar proteinosis prevalent on Réunion Island

A Hadchouel, T Wieland, M Griese, E Baruffini… - The American Journal of …, 2015 - cell.com
Methionyl-tRNA synthetase (MARS) catalyzes the ligation of methionine to tRNA and is critical
for protein biosynthesis. We identified biallelic missense mutations in MARS in a specific …

Neonatal outcomes of prenatally diagnosed congenital pulmonary malformations

…, J Stirnemann, P Cros, H Ducoin, A Hadchouel… - …, 2014 - publications.aap.org
BACKGROUND AND OBJECTIVE: Congenital pulmonary malformations (CPM) are mostly
recognized on prenatal ultrasound scans. In a minority of cases, they may impair breathing at …

[HTML][HTML] Matrix metalloproteinase gene polymorphisms and bronchopulmonary dysplasia: identification of MMP16 as a new player in lung development

A Hadchouel, F Decobert, ML Franco-Montoya… - PloS one, 2008 - journals.plos.org
Backgound Alveolarization requires coordinated extracellular matrix remodeling, a process
in which matrix metalloproteinases (MMPs) play an important role. We postulated that …

Monoclonal antibody-mediated neutralization of SARS-CoV-2 in an IRF9-deficient child

…, K Dorgham, I Melki, A Hadchouel… - Proceedings of the …, 2021 - National Acad Sciences
We describe an unvaccinated child at risk for life-threatening COVID-19 due to an inherited
deficiency of IRF9, which governs ISGF-3–dependent responses to type I and III interferons (…

A systematic review of serious games in asthma education

…, D Monnier, A Tesnière, A Hadchouel - Pediatric Allergy and …, 2017 - Wiley Online Library
Background Serious games may be useful tools for asthma education. The objectives of this
systematic review were to identify the available articles on serious games designed to …

Serious game versus online course for pretraining medical students before a simulation-based mastery learning course on cardiopulmonary resuscitation: A …

…, PF Ceccaldi, P Plaisance, A Hadchouel… - European Journal of …, 2017 - journals.lww.com
BACKGROUND Although both recorded lectures and serious games have been used to
pretrain health professionals before simulation training on cardiopulmonary resuscitation, they …

Effectiveness and safety of ruxolitinib for the treatment of refractory systemic idiopathic juvenile arthritis like associated with interstitial lung disease: a case report

B Bader-Meunier, A Hadchouel, L Berteloot… - Annals of the …, 2022 - ard.bmj.com
We read with interest the report of a series of 61 patients with systemic juvenile idiopathic
arthritis (s-JIA) or s-JIA-like associated with high-fatality lung diseases. 1 Lung disease was …