SMYD2 regulates lymph node metastasis derived from intrahepatic cholangiocellular carcinoma through CCR7-dependent chemotaxis.
Authors: Nakamura M, Hayami S, Miyamoto A, Suzaki N, Yoshimura T, Nakamura K, Shigekawa Y, Shimizu A, Kitahata Y, Takeuchi A, Motobayashi H, Matsumoto K, Ehata S, Hamamoto R, Kawai M
Journal: Scientific reports
mental health
psychology
open access
Abstract
Myasthenia gravis (MG) is a rare, chronic autoimmune neuromuscular disease (ORPHA:589), characterised by its hallmark features of muscle weakness and fatigability. The presence of antibodies in serum, the location of symptoms, and the age of onset are used to classify the disease. Known for its fluctuating symptoms and characteristic fatigue, MG imposes a considerable socioeconomic burden, both on individuals and globally. The disease has a profound impact on patients’ quality of life and their ability to work and carry out everyday tasks, and it also creates financial strain on national healthcare systems as well as on patients at a personal level. Although several randomised controlled trials have recently evaluated novel targeted therapies in MG, long-term real-world data on effectiveness, safety, and patient-reported outcomes remain limited. In the literature, patient registries—particularly for rare diseases—have proven to be essential tools for improving patient-centred care and advancing research. These registries facilitate systematic longitudinal data collection, enable real-world evaluation of treatment effectiveness and safety, support identification of prognostic factors, and improve patient recruitment into clinical trials. In rare diseases such as MG, they are particularly valuable for aggregating sufficiently large cohorts for meaningful analysis. Several MG or neuromuscular disease registries already exist, both at a nationwide and a single-centre level. In addition, global databases have been established, such as the myasthenia gravis patient registry (MGR), a voluntary patient-submitted database, and MGBase, which seeks to develop a globally inclusive longitudinal patient registry. Complementing these efforts, initiatives have also been made to harmonise data collection among European national registries, with the aim of establishing an enhanced European MG registry and fostering collaboration. Nevertheless, there remains scope for improvement and cooperation to ensure the collection of adequate, clinically verified data—particularly relevant in patient-reported registries—and to achieve harmonised standardised clinical, therapeutic, and patient-reported outcomes of global significance.