Haematologica
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We report the case of a 23-year-old woman who presented with an adult form of metachromatic leukodystrophy (MLD) evolving over one year with a progressive neurological deterioration. A non-myeloablative matched related haematopoietic stem cell transplantation (HSCT) with concomitant mesenchymal stromal cells (MSCs) infusion was performed. ⋯ At a follow up of 40 months, the patient had a stabilisation of all neurological manifestations of her disease. This case report suggests the feasibility and the potential efficacy of reduced intensity conditioning (RIC) allogeneic HSCT combined with MSC infusion for patients with the adult form of MLD.
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We studied the utility of pancreatic magnetic resonance imaging (MRI) in 72 thalassemia major patients (21 diabetic, 51 normoglycemic). Diabetic patients were significantly older (p<0.0001) and had smaller pancreas volume (p<0.0001). ⋯ In normoglycemic patients, cardiac T2* and log-pancreatic T2* values correlated with homeostatic model assessments HOMA-B (beta cell reserve), HOMA-IR (insulin resistance) and fasting insulin/C-peptide levels. This suggested that improved chelation may improve beta cell reserve and prevent pancreatic atrophy.