Publications by authors named "Daniel de Murat"
Bilateral macronodular adrenocortical disease (BMAD) is an uncommon cause of Cushing's syndrome leading to bilateral macronodules. Isolated BMAD has been classified into three molecular groups: patients with ARMC5 alteration, KDM1A alteration, and patients without known genetic cause. The aim of this study was to identify by NGS, in a cohort of 26 patients with BMAD, the somatic alterations acquired in different nodules after macrodissection from patients with germline ARMC5 or KDM1A alterations and to analyze potential somatic alterations in a panel of five other genes involved in adrenal pathology (GNAS, PDE8B, PDE11A, PRKAR1A, and PRKACA).
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- The study aims to identify easily measurable biomarkers that reflect the biological effects of glucocorticoids in patients with Cushing's syndrome through whole blood transcriptome analysis.
- It analyzed transcriptomic profiles from blood samples of different patient groups, creating a prediction model that effectively distinguishes between those with overt Cushing's syndrome and other conditions.
- Findings indicate that the transcriptome can indicate glucocorticoid levels, with FKBP5 expression showing potential as a nonhormonal marker for diagnosing Cushing's syndrome.
COVID-19 is associated with heterogeneous outcome. Early identification of a severe progression of the disease is essential to properly manage the patients and improve their outcome. Biomarkers reflecting an increased inflammatory response, as well as individual features including advanced age, male gender, and pre-existing comorbidities, are risk factors of severe COVID-19.
View Article and Find Full Text PDFDesign: Molecular classification is important for the diagnosis and prognosis of adrenocortical tumors (ACT). Transcriptome profiles separate adrenocortical adenomas 'C2' from carcinomas, and identify two groups of carcinomas 'C1A' and 'C1B', of poor and better prognosis respectively. However, many ACT cannot be profiled because of improper or absent freezing procedures, a mandatory requirement so far.
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- 40% of somatotroph tumors have activating mutations known as oncogenes, but the expression levels of -negative tumors vary widely, with some resembling those carrying the oncogene.
- Changes in the imprinting of these -negative tumors may impact their expression levels and tumor growth, as seen in multi-omics analysis of two tumor cohorts.
- In the study, 43% of -negative tumors displayed relaxed imprinting, which linked to lower expression levels and reduced effectiveness against treatments, suggesting a more aggressive tumor behavior.