Long-term outcomes in MPS-IH: throwing stars.
نویسنده
چکیده
After a herculean data-gathering effort, in this issue of Blood, Aldenhoven and colleagues from Europe and North America provide an eye-opening assessment of long-term neurocognitive, organ, joint, and tissue function after allogeneic transplantation of children with mucopolysaccharidosis type I–Hurler syndrome (MPS-IH), along with an analysis defining a path to better these outcomes.
منابع مشابه
Long-term outcome of Hurler syndrome patients after hematopoietic cell transplantation: an international multicenter study.
Mucopolysaccharidosis type I-Hurler syndrome (MPS-IH) is a lysosomal storage disease characterized by multisystem morbidity and death in early childhood. Although hematopoietic cell transplantation (HCT) has been performed in these patients for more than 30 years, large studies on the long-term outcome of patients with MPS-IH after HCT are lacking. The goal of this international study was to id...
متن کاملLong-term cognitive and somatic outcomes of enzyme replacement therapy in untransplanted Hurler syndrome
Mucopolysaccharidosis type I (MPS I) was added to the Recommended Uniform Screening Panel for newborn screening in 2016, highlighting recognition that early treatment of MPS I is critical to stem progressive, irreversible disease manifestations. Enzyme replacement therapy (ERT) is an approved treatment for all MPS I phenotypes, but because the severe form (MPS IH, Hurler syndrome) involves rapi...
متن کاملNeurological outcomes after hematopoietic stem cell transplantation for cerebral X-linked adrenoleukodystrophy, late onset metachromatic leukodystrophy and Hurler syndrome.
Objective To describe survival and neurological outcomes after HSCT for these disorders. Methods Seven CALD, 2 MLD and 2 MPS-IH patients underwent HSCT between 2007 and 2014. Neurological examinations, magnetic resonance imaging, molecular and biochemical studies were obtained at baseline and repeated when appropriated. Results Favorable outcomes were obtained with 4/5 related and 3/6 unrel...
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We have conducted an optical long-term monitoring survey of the majority of dwarf galaxies in the Local Group, with the Isaac Newton Telescope (INT), to identify the long period variable (LPV) stars. LPV stars vary on timescales of months to years, and reach the largest amplitudes of their brightness variations at optical wavelengths, due to the changing temperature. They trace stellar populati...
متن کاملElevated cerebral spinal fluid biomarkers in children with mucopolysaccharidosis I-H
Mucopolysaccharidosis (MPS) type-IH is a lysosomal storage disease that results from mutations in the IDUA gene causing the accumulation of glycosaminoglycans (GAGs). Historically, children with the severe phenotype, MPS-IH (Hurler syndrome) develop progressive neurodegeneration with death in the first decade due to cardio-pulmonary complications. New data suggest that inflammation may play a r...
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ورودعنوان ژورنال:
- Blood
دوره 125 13 شماره
صفحات -
تاریخ انتشار 2015