Publications by authors named "Marie De Tersant"
Article Synopsis
- Patients with Fanconi anemia (FA) show chromosome instability, leading to exhaustion of hematopoietic stem cells and a higher risk of developing poor-prognosis myeloid leukemia.
- A study involving 62 patients revealed unique mutations and structural variants that resemble BRCA-related cancers, with many patients showing chromosome 1q gain linked to MDM4 trisomy, which downregulates p53 signaling.
- MDM4 triplication not only enhances the survival of FA stem cells but also promotes leukemia development, suggesting that targeting MDM4 could be a potential therapeutic strategy to disrupt this pathway.
This work’s objective was to evaluate the safety of isavuconazole (ISA) as a treatment or prophylaxis for invasive fungal infections (IFIs) in immunocompromised children. IFI was reported as proven or probable according to international definitions. Therapeutic drug monitoring was performed using mass tandem spectrometry to quantify trough plasma concentrations.
View Article and Find Full Text PDFOutcomes of pediatric patients with therapy-related myeloid neoplasms.
Bone Marrow Transplant
December 2021
Long-term outcomes after allogeneic hematopoietic cell transplantation (HCT) for therapy-related myeloid neoplasms (tMNs) are dismal. There are few multicenter studies defining prognostic factors in pediatric patients with tMNs. We have accumulated the largest cohort of pediatric patients who have undergone HCT for a tMN to perform a multivariate analysis defining factors predictive of long-term survival.
View Article and Find Full Text PDFPurpose: The purpose of this work is to assess the clinical outcome of pediatric patients diagnosed with pheochromocytoma and paraganglioma (PPGL) detected in France since 2000.
Methods: A retrospective multicenter study was conducted that included all patients younger than 18 years with PPGL diagnosed in France between 2000 and 2016. Patients were identified from 4 different sources: the National Registry of Childhood Solid Tumors, the French Pediatric Rare Tumors Database, the French registry of succinate dehydrogenase (SDH)-related hereditary paraganglioma, and the nationwide TenGen network.
Objective: We sought to investigate the pressure delivery during less invasive surfactant administration, as we hypothesize that it might be reduced.
Study Design: Physiologic in vitro study in a ventilation lab, using different pressure generators, levels, and leaks in a model of neonatal airways/lung mimicking mechanical characteristics of respiratory distress syndrome. Pressure was measured at the lung and verified in vivo measuring pharyngeal pressure in 19 neonates under same conditions.
Background: Acute pancreatitis can be a life-threatening complication in patients with chronic kidney disease (CKD), especially in kidney transplant recipients.
Case Diagnosis/treatment: The patient was 7 years old when he received renal transplantation for CKD secondary to posterior urethral valves. Two years later, he presented with severe necrotizing pancreatitis (Ranson's score 5, Balthazar's score 8).