For many patients who require an allogeneic stem cell transplant, a human leukocyte antigen (HLA)-matched sibling or an appropriate unrelated donor can be identified. However, there are some pediatric patients who require transplantation for whom the best outcome and/or the only option is the collection of umbilical cord blood following the birth of an HLA identical sibling. This scenario occur...

Fifty-three patients with high-risk acute lymphoblastic leukemia (ALL) under age 50 with a histocompatible sibling donor received high-dose radiochemotherapy followed by allogeneic bone marrow transplantation (BMT). The high-risk factors used to identify the patients were: white blood cell count at initial presentation, cytogenetic abnormalities, age, extramedullary leukemic infiltration, and t...

Graft failure is a problem in HLA-identical sibling transplants for patients with refractory severe aplastic anaemia (SAA). Intensification efforts includes addition of radiation or biologic agents such as antithymocyte globulin (ATG), procarbazine or cyclophosphamide has often been advocated to combat this problem. With this approach engraftment rate has improved. However the incidence of tran...

We characterize a novel otoferlin mutation discovered in a sibling pair diagnosed with auditory neuropathy spectrum disorder and investigate auditory nerve function through their cochlear implants. Genetic sequencing revealed a homozygous mutation at the otoferlin splice donor site of exon 28 (IVS28 + 1G>T) in both siblings. Functional investigation showed that the intronic sequence between exo...

Imagine you have just found out that a loved one, such as parent, sibling, or close friend, suffers from rare and deadly genetic disorder. There are currently no successful mainstream treatments for this However, the doctor mentions highly experimental treatment would involve removing bone marrow healthy donor once month full year could potentially cause permanent damage to them. It turns match...

CONTEXT The advent of single-cell polymerase chain reaction (PCR) has presented the opportunity for combined preimplantation genetic diagnosis (PGD) and HLA antigen testing. This is a novel and useful way to preselect a potential donor for an affected sibling requiring stem cell transplantation. OBJECTIVE To perform in vitro fertilization (IVF) and preimplantation HLA matching combined with P...

Bone marrow transplantation (BMT) is indicated for selected genetic and hematologic diseases and for hematopoietic reconstitution in cases of iatrogenic or accidental ablation of BM.’-5 Additionally, allogeneic BMT may contribute to the therapy of leukemia through graft-versus-leukemia effects (GVL), which are associated with, but possibly independent of, chronic graft-versus-host disease (GVHD...

Bone marrow transplantation (BMT) is indicated for selected genetic and hematologic diseases and for hematopoietic reconstitution in cases of iatrogenic or accidental ablation of BM.’-5 Additionally, allogeneic BMT may contribute to the therapy of leukemia through graft-versus-leukemia effects (GVL), which are associated with, but possibly independent of, chronic graft-versus-host disease (GVHD...

BACKGROUND AND OBJECTIVE The outcome of patients with severe aplastic anemia (SAA) has improved considerably over the last decades. Bone marrow transplantation (BMT) is the treatment of choice in young patients who have an HLA-identical sibling donor. This study analyzes the outcome and factors related to survival in patients with SAA receiving BMT in our institution. DESIGN AND METHODS Betwe...

The optimal primary endpoint for acute graft-versus-host disease (GVHD) therapeutic trials has not been established. In a retrospective analysis, we examined the response of 864 patients who received prednisone 60 mg/m(2)/d for 14 days, followed by an 8-week taper, as initial therapy for acute GVHD from 1990-2007 at the University of Minnesota. Patients received grafts of human leukocyte antige...