Publications by authors named "J-F Kuntz"
Article Synopsis
- Spinal muscular atrophy (SMA) is a genetic disorder caused by mutations in the survival motor neuron 1 gene, leading to progressive muscle degeneration, prompting a need to update diagnosis best practices post-treatment advancements and newborn screening implementation.
- A systematic review and expert consensus from healthcare professionals in the U.S. and Europe emphasized the critical role of newborn screening (NBS) for SMA and established new recommendations for characterizing NBS-identified infants and enhancing specialty care services.
- The working group highlighted the necessity of involving individuals with SMA and their caregivers in the process to better support and provide resources for those diagnosed through NBS, while noting limited data on adult-onset SMA diagnosis.
The traditional Indian medicine, Ayurveda, provides insights and practical solutions towards a healthy life style. Rasayana is a branch of Ayurveda known for preserving and promoting health, enhancing the quality of life and delaying the aging process. In the traditional knowledge, the Rasayana herb, Chlorophytum borivilianum (C.
View Article and Find Full Text PDFObjective: The two sides of trauma-induced coagulopathy, the hypocoagulable and the hypercoagulable states, are poorly understood. To identify potential mechanisms for venous thromboembolism and bleeding after acute trauma, we estimated changes in circulating procoagulant microparticles (MPs) and thrombin activity during hospitalization for trauma.
Methods: Whole blood was collected by venipuncture into 3.