Subject(s)
Amyloid Neuropathies, Familial/genetics , Repressor Proteins/genetics , Saccharomyces cerevisiae Proteins , Ubiquitin-Protein Ligase Complexes , Age Factors , Aged , Amyloid Neuropathies, Familial/diagnosis , Amyloid Neuropathies, Familial/surgery , Electromyography , F-Box Proteins , Humans , Male , Middle Aged , Pedigree , Point Mutation/geneticsABSTRACT
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Subject(s)
Middle Aged , Aged , Male , Humans , Ubiquitin-Protein Ligase Complexes , Saccharomyces cerevisiae Proteins , Point Mutation , Pedigree , Repressor Proteins , Amyloid Neuropathies, Familial , Age Factors , ElectromyographyABSTRACT
Bone marrow transplant has proved to be an effective treatment in some hereditary metabolic diseases and, especially, in mucopolysdaccharidosis (MPS). A 9-year-old girl, of consanguineous parents, with MPS Type I, Hurler-Scheie syndrome, received a BMT from her heterozygous, HLA-compatible mother. -L-iduronidase activity in leukocytes and fibroblasts was undetectable and glycosaminoglycans (GAG) excretion in urine was very high. BMT conditioning treatment consisted of Busulfan (16 mg/kg) and Cyclophosphamide (120 mg/kg); clinical course was uneventful. Sixty days post-BMT iduronidase activity in leukocytes was similar to that of the donor and GAG levels were normal at 12 months. Echocardiography showed regression in hypertrophic myocardiopathy. Previously enlarged and vacuole-filled skin fibroblasts became reduced in size and vacuole content. The most notable clinical effects were: improved facial features, increased height, disappearance of visceromegalies, gradual clearing of corneal opacities with improved vision and reduced joint stiffness. It is concluded that the gradual deterioration in patients with MPS-I may be arrested and many clinical features improved by BMT.
Subject(s)
Bone Marrow Transplantation , Mucopolysaccharidosis I/genetics , Child , Child, Preschool , Female , Follow-Up Studies , Heart Septum/diagnostic imaging , Humans , Infant , Mucopolysaccharidosis I/metabolism , Mucopolysaccharidosis I/surgery , Phenotype , UltrasonographyABSTRACT
Experimental studies have been made in rabbits in which an operative gap in the nerve was bridged either with a fresh nerve graft taken from the opposite side or with a degenerate graft, the nerve on the opposite side having been divided 15 days earlier. Technical details of the method are described. An electromyographic study demonstrated better results with the predegenerate graft and histological examination showed a better maturation of the axons.