Publications by authors named "Pascale Trioche Eberschweiler"
Article Synopsis
- A study examined the prevalence and incidence of interstitial lung disease in children (chILD) in France, finding it affects 44 children per million in 2022 and has an incidence of 4.4 per million.
- The research included data from 790 patients across 42 centers, noting that the median age for diagnosis was 3 months, with a significant portion having familial forms.
- Management typically involved oxygen therapy and corticosteroids, with survival rates being 57.3% for children diagnosed before 2 years and 86% for those diagnosed between 2 and 18 years; the study highlights the need for improved international data collection and standardized practices.
Glucose-6-phosphatase deficiency (G6P deficiency), or glycogen storage disease type I (GSDI), is a group of inherited metabolic diseases, including types Ia and Ib, characterized by poor tolerance to fasting, growth retardation and hepatomegaly resulting from accumulation of glycogen and fat in the liver. Prevalence is unknown and annual incidence is around 1/100,000 births. GSDIa is the more frequent type, representing about 80% of GSDI patients.
View Article and Find Full Text PDFHepatic glycogen storage diseases are rare inherited conditions affecting glycogen metabolism. During the last twenty years, medical progress has allowed children who used to die before they reached the age of ten years to reach adulthood. It is important to know the natural history and long-term outcome of these patients to improve their treatment during childhood.
View Article and Find Full Text PDFUnlabelled: An adolescent was hospitalized for recurring abdominal pains, which had previously led to appendicectomy. Laboratory data finally led to the diagnosis of hereditary angioneurotic oedema, after several hypotheses had been raised and ruled out.
Conclusions: Angioneurotic oedema is a rare condition, which should be suspected in children with recurring abdominal pains, especially when there is liquid within the peritoneal cavity.