The European Society of Human Genetics—Young Committee (ESHG-Y) aims to support young human geneticists by developing strategies and programs for better education and creating a strong network in all European countries. In this report, we present the ESHG-Y projects conducted since its conception. We organized the educational sessions at the ESHG Annual Conference, the European Dysmorphology Meetings, and a virtual session in collaboration with the European Board of Medical Genetics (EBMG). Also, the ESHG-Y regularly promotes relevant activities and succeeded in creating an active network of young geneticists. Our representatives have a supportive role in well-known organizations such as: ESHG Board, ESHG Scientific Program Committee, ESHG Education Committee, EBMG, ERN-Ithaca, Unique - Rare Chromosome Disorder Support group, Orphanet, EuroGEMS, MOOC BIG and more. Taking into consideration all activities and ongoing projects, we can state that the ESHG-Y successfully achieves its objectives and brings young professionals together.
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http://dx.doi.org/10.1038/s41431-023-01300-4 | DOI Listing |
J Endocrinol Invest
January 2025
Division of Internal Medicine 4 and Hypertension Unit, Department of Medical Sciences, University of Torino, Torino, Italy.
Purpose: The delayed or missed diagnosis of secondary hypertension contributes to the poor blood pressure control worldwide. This study aimed to assess the diagnostic approach to primary aldosteronism (PA) and pheochromocytoma (PHEO) among Italian centers associated to European and Italian Societies of Hypertension.
Methods: Between July and December 2023, a 10-items questionnaire was administered to experts from 82 centers of 14 Italian regions and to cardiologists from the ARCA (Associazioni Regionali Cardiologi Ambulatoriali) Piemonte.
Ann Neurol
January 2025
Department of Neurology, Mayo Clinic, Jacksonville, Florida, USA.
The long-term clinical outcomes and associated prognostic factors in contactin-associated protein-like 2 (CASPR2)-antibody diseases are unknown. A total of 75 participants with CASPR2 antibodies were longitudinally assessed for disability, quality-of-life, and chronic pain. Although most symptoms improved within 6 months of treatment, neuropathic pain and fatigue were the most immunotherapy refractory, and persisted for up to 6 years.
View Article and Find Full Text PDFJ Exp Clin Cancer Res
January 2025
Department of Pathophysiology and Transplantation, University of Milan, Milan, Italy.
Background: Glioblastoma (GBM) is a lethal brain tumor characterized by the glioma stem cell (GSC) niche. The V-ATPase proton pump has been described as a crucial factor in sustaining GSC viability and tumorigenicity. Here we studied how patients-derived GSCs rely on V-ATPase activity to sustain mitochondrial bioenergetics and cell growth.
View Article and Find Full Text PDFBMC Infect Dis
January 2025
Clinical Microbiology, Department of Translational Medicine, Faculty of Medicine, Lund University, SE21428, Malmö, Sweden.
Background: Community-acquired pneumonia (CAP) was one of the most common causes of death in the European Union in 2017. Severity and mortality of CAP increase with age and an aging European population will require increased planning for prevention, control, and management of CAP. The purpose of this study was to provide an updated population-based estimate of the incidence of CAP requiring hospitalization in Northern Europe.
View Article and Find Full Text PDFJ Immunother Cancer
January 2025
Investigational Cancer Therapeutics, The University of Texas MD Anderson Cancer Center, Houston, Texas, USA
Purpose: BMS-986299 is a first-in-class, NOD-, LRR-, and pyrin-domain containing-3 (NLRP3) inflammasome agonist enhancing adaptive immune and T-cell memory responses.
Materials And Methods: This was a phase-I (NCT03444753) study that assessed the safety and tolerability of intra-tumoral BMS-986299 monotherapy (part 1A) and in combination (part 1B) with nivolumab, and ipilimumab in advanced solid tumors. Reported here are single-center results.
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