M S-medecine Sciences最新文献

A significant number of patients with congenital myopathy remain undiagnosed, complicating their clinical management, genetic counseling, and limiting access to therapeutic trials or existing treatments. This study, conducted as part of the MYOCAPTURE research project, aimed to identify novel mutations and genes by analyzing the exome of 310 families affected by genetically undiagnosed congenital myopathies. A genetic diagnosis was established for 123 families (40%). Among the diagnosed cases, only 44 (36%) had mutations in a known gene associated with a classical phenotype. Fifty-five families (44%) had mutations in known genes but associated with atypical phenotypes. And in 20% of the cases, we identified the involvement of 14 novel myopathy genes. This study highlights the relevance of untargeted high-throughput sequencing, such as exome sequencing, for the diagnosis of congenital myopathies and contributes to improving their clinical management.

Pancreatic islet transplantation (PIT) became a clinical reality in France in 2021, providing a groundbreaking alternative for patients with type 1 diabetes (T1D) suffering from lability or severe hypoglycemic unawareness. This cellular therapy involves implanting insulin-producing islets from brain-deceased donors (allograft) or after pancreatectomy (autograft), significantly improving glucose control and reducing diabetes-related complications. However, PIT faces major challenges, including limited donor availability, lifelong immunosuppression, and progressive islet loss. Researchers are now exploring alternative approaches, such as stem cell-derived islets and xenografts, to overcome these obstacles and expand access to this promising therapy. The future of PIT may hinge on the success of hypoimmune stem cell-derived insulin secreting islets or autologous grafts that would avoid rejection and autoimmune recurrence in the absence of immunosuppressive drug treatment, paving the way for a long-term solution for millions of diabetic patients worldwide.

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.