Publications by authors named "A Coulomb-L'Hermine"
Article Synopsis
- ChILD is a group of rare and severe lung diseases in children, with some cases linked to deficiencies in surfactant protein B (SP-B).
- The RespiRare network helps to gather detailed information about the characteristics and genetic backgrounds of these patients.
- A study involving 11 patients found that those with complete SP-B deficiency showed symptoms at birth and had a median survival of 1 month, while rarer cases with partial SP-B function might have a better chance of survival.
Article Synopsis
- Hematological involvement (HI) is a serious condition associated with Langerhans cell histiocytosis (LCH), and is defined by low blood cell counts indicating potential life-threatening complications.
- A study of 2,313 children with LCH revealed that about 331 developed HI, with a distinction between mild (MHI) and severe HI (SHI), each showing different health outcomes and survival rates over 10 years.
- Recent advances in treatment have improved mortality rates, particularly with combination therapies and targeted treatments, sparking discussions about refining HI definitions to better inform treatment strategies.
Introduction: Lung biopsy is considered as the last step investigation for diagnosing lung diseases; however, its indication must be carefully balanced with its invasiveness. The present study aims to evaluate the diagnostic yield of lung biopsy in critically ill patients hospitalized in the pediatric intensive care unit (ICU).
Material And Methods: Children who underwent a lung biopsy in the ICU between 1995 and 2022 were included.
Acinar dysplasia (AcDys) is one of the three main diffuse developmental disorders of the lung. The transcription factor NK2 homeobox 1 (NKX2.1) partly controls the synthesis of surfactant proteins by type 2 alveolar epithelial cells (AEC2), and germline mutations are known to be associated with brain-lung thyroid syndrome.
View Article and Find Full Text PDFIntroduction: Childhood Interstitial Lung Disease (chILD) represents a rare and severe group of diseases for which the etiologic workup, classification, and management remain a challenge for most pediatric pulmonologists. In France in 2018, the RespiRare network established the first multidisciplinary team meetings (MDTm) dedicated to chILD. This study aims to investigate the impact of MDTm in chILD diagnosis and management as well as user satisfaction.
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