Mucopolysaccharidoses (MPSs) are a heterogeneous group of diseases that have in common the accumulation of glycosaminoglycans (mucopolysaccharides) within the lysosome. The diseases are caused by a deficiency of the enzyme α-L-iduronidase which is responsible for the degradation of glycosaminoglycans (GAGs or mucopolysaccharides). More than 100 mutations in the gene have been reported, resulting in marked clinical/response variability.
View Article and Find Full Text PDFIfosfamide (IFA) is an effective antineoplastic for solid tumours in children, although it is associated with high levels of systemic toxicity and causes death in some cases. The aim of this study was to determine whether the presence of certain allelic variants of genes , , and increases the risk of toxicity in children with solid tumours treated with ifosfamide. A total of 131 DNA samples were genotyped by real-time polymerase chain reaction (RT-PCR) using TaqMan probes.
View Article and Find Full Text PDFThe objective of this study was to determine whether a comorbidity index could be used to predict mortality in pediatric patients with chemotherapy-treated solid tumors. Pediatric patients who underwent chemotherapy treatment for solid tumors were included, and demographic, clinical, and comorbidity data were obtained from patient electronic records. A total of 196 pediatric patients with embryonic solid tumors were included.
View Article and Find Full Text PDFAcute lymphoblastic leukemia (ALL), the most common type of cancer in children worldwide, has one of the highest incidence rates in Mexico. It is a multifactorial disease and different cytokine single nucleotide polymorphisms (SNP), have been associated with ALL expression. Few studies have been published analyzing IFNG +874 T/A and IL2 -330 G/T in this type of leukemia.
View Article and Find Full Text PDFThe incidence of chronic granulomatous disease in international reports is 1:250,000; however, in Mexico it is unknown. At the National Institute of Pediatrics of Mexico a project for facilitating the diagnosis of the disease was implemented by us in 2009. From the start of such project up to date 68 cases have been studied; 80% of those are X-linked forms (LX) and moreover, it has become noticeable the diagnosis at a younger age.
View Article and Find Full Text PDFObjectives Hematopoietic stem cell transplantation (HSCT) from a matched sibling donor (MSD) is the preferred initial treatment for children with severe aplastic anemia (SAA). Unfortunately, only about 30% of patients have a suitable human leukocyte antigen-matched sibling. Methods We have analyzed the outcome of 42 patients who received HSCT (22 MSD and 20 alternative donors (AD)) for SAA at the seven major pediatric HSCT centers in Mexico between 2001 and 2013.
View Article and Find Full Text PDFRev Bras Hematol Hemoter
November 2013
Background: In childhood cancer, consolidation treatment with chemotherapy followed by autologous hematopoietic progenitor stem cell transplantation is currently an accepted treatment modality in patients with high-risk solid tumors or in patients who have relapsed after conventional treatment.
Objectives: The objective of this study was to describe the results of transplantation of a group of children who had high-risk solid tumors or relapsed after conventional chemotherapy regimens.
Methods: A retrospective analysis was conducted from January 1998 to October 2004 of all children with pathologic diagnoses of high-risk solid tumors or children that had previously relapsed after conventional chemotherapy and that were subsequently submitted to autologous hematopoietic progenitor stem cell transplantation.