EClinicalMedicine
February 2024
Inherited Metabolic Diseases (IMD) encompass a diverse group of rare genetic conditions that, despite their individual rarity, collectively affect a substantial proportion, estimated at as much as 1 in 784 live births. Among their wide-ranging clinical manifestations, cytopenia stands out as a prominent feature. Consequently, IMD should be considered a potential diagnosis when evaluating patients presenting with cytopenia.
View Article and Find Full Text PDFThe patient partnership is a new approach in which the patient, through his knowledge acquired from his experience with the disease, is a stakeholder in decisions about care, the organization of the health system and choices in terms of health policy. A team from the Blois hospital (41) was able to share the experience of a patient partnership during the analysis of a complex medical situation with a young man with sickle cell disease in a vaso-occlusive crisis. She reports here this new and enriching experience.
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