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Human iPSC-derived neural stem cells engraft and improve pathophysiology of MPS I mice.
Mol Ther Methods Clin Dev
December 2024
Research Institute, Children's Hospital of Orange County, Orange, CA, USA.
Mucopolysaccharidosis type I (MPS I) is a metabolic disorder characterized by a deficiency in α-l-iduronidase (IDUA), leading to impaired glycosaminoglycan degradation. Current approved treatments seek to restore IDUA levels via enzyme replacement therapy (ERT) and/or hematopoietic stem cell transplantation (HSCT). The effectiveness of these treatment strategies in preventing neurodegeneration is limited due to the inability of ERT to penetrate the blood-brain barrier (BBB) and HSCT's limited CNS reconstitution of IDUA levels.
View Article and Find Full Text PDFCXCR4-directed endoradiotherapy with [Lu]Pentixather added to total body irradiation for myeloablative conditioning in patients with relapsed/refractory acute myeloid leukemia.
Theranostics
January 2025
Department of Internal Medicine III, School of Medicine and Health, Technical University of Munich, Munich, Germany.
Article Synopsis
- Despite improvements in targeted therapy for Acute Myeloid Leukemia (AML), the prognosis remains poor, particularly for patients with relapsed or refractory disease.
- Allogeneic hematopoietic stem cell transplantation (alloSCT) is the main curative option for high-risk patients, but the best conditioning approach is still uncertain for those who are chemotherapy-refractory.
- A study on seven AML patients who received CXCR4-directed endoradiotherapy (ERT) combined with total body irradiation and chemotherapy prior to alloSCT showed promising outcomes, with 6 out of 7 patients achieving response and successful engraftment, offering insights into a potentially effective treatment strategy for advanced cases.
Impact of enzyme replacement therapy on clinical manifestations in females with Fabry disease.
Orphanet J Rare Dis
December 2024
Department of Internal Medicine D, and Interdisciplinary Fabry Center (IFAZ), University Hospital Muenster, Muenster, Germany.
Background: The aim of our multicenter study was to investigate the implementation of the European Fabry guidelines on therapeutic recommendations in female patients with Fabry disease (FD) and to analyze the impact of enzyme replacement therapy (ERT) in treated and untreated females.
Results: Data from 3 consecutive visits of 159 female FD patients from 6 Fabry centers were retrospectively analyzed. According to their treatment, patients were separated in 3 groups (untreated, n = 71; newly ERT-treated, n = 47; long-term ERT-treated, n = 41).
Development of a riboflavin-responsive model of riboflavin transporter deficiency in zebrafish.
Hum Mol Genet
December 2024
Children's Hospital of Eastern Ontario Research Institute, 401 Smyth Road, Ottawa K1H 8L1, Canada.
Riboflavin transporter deficiency (RTD) is a rare and progressive neurodegenerative disease resulting from the disruption of RFVT2- and RFVT3- mediated riboflavin transport caused by biallelic mutations in SLC52A2 and SLC52A3, respectively. The resulting impaired mitochondrial metabolism leads to sensorimotor neurodegeneration and symptoms including muscle weakness, respiratory difficulty, and sensorineural deafness. Although over 70% of patients with RTD improve following high-dose riboflavin supplementation, remaining patients either stabilise or continue to deteriorate.
View Article and Find Full Text PDFPrognostic performance of early immune and endothelial activation markers in mild-to-moderate COVID-19 outpatients: a nested case-control study.
Front Immunol
December 2024
ISGlobal, Barcelona, Spain.
Introduction: Evidence on the association of biomarkers of host response to infection with COVID-19 clinical outcomes has focused mainly on hospitalized patients. We investigated the prognostic performance of 39 immune and endothelial activation markers measured early in the course of disease to predict the development of severe COVID-19 and hospitalization.
Methods: We conducted a nested case-control study from a randomized clinical trial evaluating the efficacy of COVID-19 convalescent plasma in outpatients aged 50 years or older presenting with mild-to-moderate COVID-19.
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