Mucopolysaccharidosis type II (MPS II - Hunter syndrome) is an X-linked lysosomal storage disorder caused by a deficiency in the enzyme iduronate-2 sulfatase (I2S), leading to the accumulation of the glycosaminoglycans, affecting multiple organs and systems. Enzyme replacement therapy does not cross the blood brain barrier, limiting results in neurological forms of the disease. Another option of treatment for severe MPS, hematopoietic stem cell transplantation (HSCT) has become the treatment of choice for the severe form of MPS type I, since it can preserve neurocognition when performed early in the course of the disease. To date, only few studies have examined the long-term outcomes of HSCT in patients with MPS II. We describe the seven-year follow-up of a prenatally diagnosed MPS II boy with positive family history of severe MPS form, submitted to HSCT with umbilical cord blood cells at 70 days of age. Engraftment after 30 days revealed mixed chimerism with 79% donor cells; after 7 years engraftment remains at 80%. I2S activity 30 days post-transplant was low in plasma and normal in leukocytes and the same pattern is observed to date. At age 7 years growth charts are normal and he is very healthy, although mild signs of dysostosis multiplex are present, as well as hearing loss. The neuropsychological evaluation (Wechsler Intelligence Scale for Children - Fourth Edition - WISC-IV), disclosed an IQ of 47. Despite this low measured IQ, the patient continues to show improvements in cognitive, language and motor skills, being quite functional. We believe that HSCT is a therapeutic option for MPS II patients with the severe phenotype, as it could preserve neurocognition or even halt neurodegeneration, provided strict selection criteria are followed.
Download full-text PDF |
Source |
---|---|
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5470531 | PMC |
http://dx.doi.org/10.1016/j.ymgmr.2017.05.010 | DOI Listing |
J Clin Med
December 2024
Department of Physiotherapy, Wroclaw University of Health and Sport Sciences, 51-612 Wroclaw, Poland.
Haematological malignancies and their treatment regimens often lead to various complications that impair patients' physical functioning. This study aimed to assess the level of physical activity and exercise capacity in patients with haematological malignancies who were qualified for haematopoietic stem cell transplantation (HSCT). A prospective, single-centre study was conducted on patients with haematological malignancies qualified for HSCT (study group, = 103) and a cohort of healthy volunteers (reference group, = 100).
View Article and Find Full Text PDFCancers (Basel)
January 2025
Department of Health Economics and Medical Law, Faculty of Health Sciences, Medical University of Warsaw, 01-445 Warsaw, Poland.
Patient satisfaction is one of the indicators of the quality of nursing care. The purpose of this study is to find out the level of satisfaction of patients with multiple myeloma with the quality of nursing care in oncology units. Data were obtained by a diagnostic survey method, using the Newcastle Nursing Satisfaction Scale.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Division of Hematology and Oncology, Department of Medicine, Mayo Clinic, Jacksonville, FL 32224, USA.
The treatment of Philadelphia chromosome-positive B-cell acute lymphoblastic leukemia (Ph+ B-cell ALL) has seen substantial progress over the past two decades. The introduction of tyrosine kinase inhibitor (TKIs) has resulted in dramatic improvements in long-term survival. Allogeneic hematopoietic stem cell transplantation (allo-HSCT), with its curative potential, has always been an integral part of the treatment algorithm of Ph+ ALL.
View Article and Find Full Text PDFCancers (Basel)
December 2024
Tisch Cancer Institute, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.
Richter transformation (RT) is a rare albeit devastating complication of chronic lymphocytic leukemia/small lymphocytic lymphoma (CLL). RT is defined as an aggressive lymphoma, typically diffuse large B-cell lymphoma, in the setting of CLL. A clonal relationship to the preceding CLL clone is detected in the majority of RT cases and confers more aggressive clinicopathologic kinetics, resistance to standard chemoimmunotherapy regimens, and inferior survival.
View Article and Find Full Text PDFInt J Mol Sci
December 2024
Division of Neonatology, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.
Mammalian blood cells originate from specialized 'hemogenic' endothelial (HE) cells in major arteries. During the endothelial-to-hematopoietic transition (EHT), nascent hematopoietic stem cells (HSCs) bud from the arterial endothelial wall and enter circulation, destined to colonize the fetal liver before ultimately migrating to the bone marrow. Mechanisms and processes that facilitate EHT and the release of nascent HSCs are incompletely understood, but may involve signaling from neighboring vascular endothelial cells, stromal support cells, circulating pre-formed hematopoietic cells, and/or systemic factors secreted by distal organs.
View Article and Find Full Text PDFEnter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!