Genetics and Epigenetics of Human Pubertal Timing: The Contribution of Genes Associated With Central Precocious Puberty.

Human puberty is a dynamic biological process determined by the increase in the pulsatile secretion of GnRH triggered by distinct factors not fully understood. Current knowledge reveals fine tuning between an increase in stimulatory factors and a decrease in inhibitory factors, where genetic and epigenetic factors have been indicated as key players in the regulation of puberty onset by distinct lines of evidence. Central precocious puberty (CPP) results from the premature reactivation of pulsatile secretion of GnRH.

Comparison of the effectiveness of awake-prone positioning and high-flow nasal oxygen in patients with COVID-19-related acute respiratory failure between different waves.

Objective: To compare the effectiveness of the awake-prone position on relevant clinical outcomes in patients with COVID-19-related acute respiratory failure requiring high-flow nasal oxygen between different waves in Argentina.

Methods: This multicenter, prospective cohort study included adult patients with COVID-19-related acute respiratory failure requiring high-flow nasal oxygen. The main exposure position was the awake-prone position (≥ 6 hours/day) compared to the non-prone position.

Adrenal Venous Sampling Using Metanephrine in Primary Aldosteronism With or Without Cortisol Co-Secretion.

Context: The role of plasma metanephrine in adrenal venous sampling (AVS) for assessing lateralization in primary aldosteronism (PA) requires further clarification.

Objective: To evaluate the performance of plasma metanephrine in AVS for determining aldosterone lateralization in PA, with or without mild autonomous cortisol secretion (MACS).

Methods: Sequential AVS under cosyntropin stimulation was conducted in 58 consecutive patients with PA and indication for AVS.

The Role and Potential of Digital Breast Tomosynthesis in Neoadjuvant Systemic Therapy Evaluation for Optimising Breast Cancer Management: A Pictorial Essay.

Neoadjuvant Therapy (NT) has become the gold standard for treating locally advanced Breast Cancer (BC). The assessment of pathological response (pR) post-NT plays a crucial role in predicting long-term survival, with Contrast-Enhanced Magnetic Resonance Imaging (MRI) currently recognised as the preferred imaging modality for its evaluation. Traditional imaging techniques, such as Digital Mammography (DM) and Ultrasonography (US), encounter difficulties in post-NT assessments due to breast density, lesion changes, fibrosis, and molecular patterns.

Genetic Investigation of Regulatory Regions of MKRN3 and DLK1 Genes in Children with Central Precocious Puberty.

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.