M S-medecine Sciences最新文献

The 5^th International Meeting on Laminopathies was held from May 21 to 23, 2025, at the historic Cordeliers Campus of Sorbonne University in Paris, France. This highly anticipated event brought together a vibrant and interdisciplinary community including clinicians, geneticists, researchers, industry representatives, and patient advocates from across Europe and beyond. The conference served as a dynamic platform for sharing the latest discoveries and clinical advances in the study of laminopathies, a heterogeneous group of rare, inherited diseases caused by mutations in genes encoding nuclear envelope proteins, most notably LMNA. Given their multisystemic nature and rarity, laminopathies pose significant challenges for both diagnosis and management, underscoring the importance of multidisciplinary approaches and international collaborations. Over the course of three days, the meeting featured a comprehensive scientific program promoting the exchange of knowledge between stakeholders in basic research, clinical practice, and translational medicine. This report provides a summary of the most impactful scientific insights, emerging therapeutic strategies, and highlights the increasing integration of the patient perspective, a key theme that ran throughout the meeting and reflects a broader movement toward patient-centered rare disease research and care.

The COVID-19 pandemic, caused by SARS-CoV-2, has not only led to a global health and economic crisis but also renewed attention to a clinical phenomenon of persistent symptoms after viral infection. This phenomenon is defined as long COVID or post-COVID-19 syndrome. Approximately one in eight patients experience persistent symptoms of varying intensity after the acute phase of the infection. This phenomenon, combined with the virus's high transmissibility and rapid mutation rate, poses a major public health challenge. This review examines various therapeutic approaches currently under consideration for treating long COVID, and explores future prospects in this field.

Neural crest cells (NCCs) are a transient, multipotent cells that form at the border between the neural and non-neural ectoderm. Their formation is a finely choreographed process that can be compared to a developmental ballet. This process unfolds in four main stages: induction, specification, migration, and differentiation. Like versatile and talented performers, NCCs display a plasticity similar to that of stem cells, being capable of giving rise to multiple lineages. At the heart of NCC formation lies their gene regulatory network with signalling pathways and transcription factors kicking in at different stages of NCC development. Among these factors, transcription factor PAX3 plays a pivotal role in the establishment of NCCs, by intervening at various stages, from specification to differentiation.

Over the past twenty years, the arrival of biotherapies and medical advances have changed the natural history of neuromuscular diseases and improved the life expectancy and quality of life of patients. It appeared necessary to propose new strategies in the rehabilitation of the musculoskeletal system. AFM-Telethon's medical actions department has initiated and organized, under the aegis of the Haute autorité de santé (HAS), a working group of experts, to write and validate new recommendations when implementing biotherapies, spinal instrumentation or exercise retraining. The expected impact of this update, validated at the beginning of 2024, is to offer more effective rehabilitation of the musculoskeletal system adapted to neuromuscular patients, allowing less recourse to hospitalization, harmonization of practices, wider dissemination of the new capacities offered to patients, an improvement of the quality and duration of life of patients, a reduction of inadequate procedures, an optimization of medical prescriptions integrating new data (therapy with neuromuscular disease).(exercise, better rehabilitation strategies, new equipment, new technical aids).

Skeletal muscle undergoes and also adapts to hypoxia caused by certain chronic diseases, whether it is chronic (chronic obstructive pulmonary disease [COPD], chronic heart failure [CHF]), intermittent (obstructive sleep apnea syndrome [OSAS]), or mixed (sickle cell disease [SCD]). This review reports the associated muscle remodeling. In COPD and CHF, muscle atrophy, fiber type redistribution, reduced microvascularization, and impaired oxidative metabolism are observed. SCD induces similar abnormalities as seen in COPD and CHF but with a specific microvascular remodeling. Conversely, OSAS improves microvascularization and oxidative metabolism, without a notable effect on muscle fiber type or trophicity. These differences likely reflect the nature and severity of hypoxia, as well as the degree of patient deconditioning.