Publications by authors named "Helena Panteliou Lima-Valassi"
Context: Most of the loss-of-function mutations described in children with central precocious puberty (CPP) is located into the coding regions of MKRN3 or DLK1 genes. Notably, potential abnormalities in the regulatory regions of these CPP-genes are rarely explored.
Objective: To search for pathogenic variants in the regulatory regions of MKRN3 and DLK1 genes in patients with familial or idiopathic CPP.
Article Synopsis
- Mitotane is the primary medication for Adrenocortical Carcinomas (ACC), and effective plasma measurement is crucial for treatment control.
- A new method was developed to measure mitotane in plasma using HPLC with a specific internal standard and detailed procedural steps for sample preparation.
- The results showed high sensitivity, accuracy, and minimal interference from other plasma compounds, confirming that the method is reliable for monitoring mitotane levels.
3-Hydroxy-3-methylglutaryl coenzyme A reductase (HMGCR) is the rate-limiting enzyme of the mevalonate pathway, which generates cholesterol and non-sterol compounds such as isoprenoid, which are involved in key steps of tumorigenesis such as cell growth and proliferation. Our aim was to evaluate the role of the mevalonate pathway in adrenocortical tumors (ACTs). Expression pattern of , , , , , , , , , , and genes involved in the mevalonate pathway and steroidogenesis, was quantified by real-time RT-PCR in 46 ACT [14 adenomas (ACA) and 11 carcinomas (ACC) from adults and 13 ACA and 8 ACC from pediatric patients].
View Article and Find Full Text PDFBackground: Anti-Müllerian hormone is marker of ovarian and testicular reserve. The clinical use of this hormone requires proper standardization of reference intervals. The aims of this study were to validate the Anti-Müllerian hormone Gen II immunoassay, to establish Anti-Müllerian hormone reference intervals in healthy subjects, and to evaluate the influence of hormonal contraceptives, smoking, and body mass index on Anti-Müllerian hormone.
View Article and Find Full Text PDFObjective: Our aim was to correlate 11-deoxycortisol levels obtained by two currently available techniques for 11-deoxycortisol measurement: radioimmunoassay, and high performance liquid chromatography followed by tandem mass spectrometry (MS/MS). The latter is the gold standard method for steroid hormone measurement.
Materials And Methods: We selected 88 samples and the results of these two methods were compared by Deming regression.