Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: EC:2.1.1.69 (BMT)
 2,655 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We investigated the efficacy of fluorescence-labelled chromosome probes (CEP-X/Y) for the X and Y chromosomes to study patients who have had opposite sex BMT. These probes hybridize to the centromere region of the X chromosome and nearly the entire long arm of the Y chromosome. These probes are direct-labelled and produce X and Y signals that can be simultaneously viewed and readily distinguished from each other by color and size after only five brief washes. We investigated BM specimens from 20 normal donors and 16 patients who had undergone an opposite sex BMT. We found no significant interinvestigator differences with respect to scoring XX or XY interphase cells. The 'normal range' for XX cells in males was up to 0.628% and for XY cells in females it was up to 0.299%. Each of the specimens from the patients who underwent BMT had a significant number of donor cells compared with normal range. We suggest that an economical, rapid and accurate cytogenetic test can be achieved by using these probes as an adjunct to conventional cytogenetics.
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PMID:Fluorescence in situ hybridization with X and Y chromosome probes for cytogenetic studies on bone marrow cells after opposite sex transplantation. 840 62

Congenital erythropoietic porphyria (Gunther's disease, GD) is a rare autosomal recessive disease. It results from the deficiency of uroporphyrinogen III synthase, the fourth enzyme on the metabolic pathway of heme synthesis. GD leads to severe scarring of the face and hands as a result of photosensitivity and fragility of the skin due to uroporphyrin I and coproporphyrin I accumulation. It also causes erythrocyte fragility leading to haemolytic anaemia. The other clinical features include hirsutism, red discolouration of teeth, finger-nails and urine and stunted growth. The outcome is poor, and the disfiguring nature of GD may partly explain the legend of the werewolf. No curative treatment was known until 1991, when the first case of BMT in GD was reported. The clinical and biological outcome after transplantation was encouraging, with an important regression of the symptoms of the disease, but the child died of CMV-infection 11 months after BMT. We report the second case of GD treated successfully by stem cell transplantation using umbilical cord blood from an HLA-identical brother in a 4-year-old girl suffering from severe GD. Our patient is very well 10 months after transplantation. We confirm that stem cell transplantation is curative for GD.
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PMID:Successful cord blood stem cell transplantation for congenital erythropoietic porphyria (Gunther's disease). 883 20