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  • 1
    ISSN: 1432-1203
    Source: Springer Online Journal Archives 1860-2000
    Topics: Biology , Medicine
    Notes: Abstract The crossover breakpoints for Charcot-Marie-Tooth disease type 1A (CMT1A) and hereditary neuropathy with liability to pressure palsies (HNPP) are located in the CMT1A-REP repeat flanking a 1.5-Mb region of chromosome 17p11.2–12. The precise locations of the breakpoints are heterogeneous, and we analyzed the relative frequency distribution of breakpoints in 33 unrelated Japanese CMT1A and 3 unrelated HNPP families. The CMT1A-REP repeat region was divided into five regions, A, B, C, D and E, based on restriction site differences between the proximal and distal CMT1A-REP repeats. The frequency distribution of breakpoints within the CMT1A-REP repeat in the Japanese patients was 3% in region A, 78% in B/C and 19% in D, which is similar to that in Caucasian patients. This result also indicates that an 8-kb region defined by region B/C is a recombinational hotspot within the CMT1A-REP repeat in Japanese patients.
    Type of Medium: Electronic Resource
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  • 2
    ISSN: 1432-0533
    Keywords: Pyrimidine compound ; Regeneration ; Nerve fiber ; Crush injury ; Morphometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract One of the pyrimidine compounds, 2-piperadino-6-methyl-5-oxo-5,6-dihydro(7H)pyrrolo[3,4-d]pyrimidine (MS-818), has neurotropic effects in vitro. Therefore, we studied the effect of MS-818 on the regeneration of the peroneal nerve in C57BL/6J mice after a crush injury. Two test groups, which received a daily intraperitoneal injection of 5 mg/kg or 10 mg/kg MS-818, respectively, were compared with controls, which received daily intraperitoneal injections of physiological saline, over a 14-day period. The maximum foot-width ratio (crushed side/uncrushed side) was obtained on days 1, 8 and 14 after the crush injury, and the various morphometric parameters were evaluated at both 5 and 10 mm distal to the proximal portion of the crush site. The significant effects of MS-818 included a larger maximum foot width (P〈0.04) and a greater number of unmyelinated axons per nerve at both levels (P〈0.003) in both test groups than in controls. MS-818 had no significant effects on body weight, the increase of total transverse fascicular area after the crush injury, the total number of myelinated fibers with their size distributions, or the number of nuclei of Schwann cells and macrophages. Therefore, we conclude that MS-818 promotes axonal sprouting and elongation after a crush injury in mice.
    Type of Medium: Electronic Resource
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  • 3
    ISSN: 1432-0533
    Keywords: Key words Pyrimidine compound ; Regeneration ; Nerve fiber ; Crush injury ; Morphometry
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract One of the pyrimidine compounds, 2-piperadino-6-methyl-5-oxo-5,6-dihydro(7H)pyrrolo[3,4-d]pyrimidine (MS-818), has neurotropic effects in vitro. Therefore, we studied the effect of MS-818 on the regeneration of the peroneal nerve in C57BL/6J mice after a crush injury. Two test groups, which received a daily intraperitoneal injection of 5 mg/kg or 10 mg/kg MS-818, respectively, were compared with controls, which received daily intraperitoneal injections of physiological saline, over a 14-day period. The maximum foot-width ratio (crushed side/ uncrushed side) was obtained on days 1, 8 and 14 after the crush injury, and the various morphometric parameters were evaluated at both 5 and 10 mm distal to the proximal portion of the crush site. The significant effects of MS-818 included a larger maximum foot width (P 〈 0.04) and a greater number of unmyelinated axons per nerve at both levels (P 〈 0.003) in both test groups than in controls. MS-818 had no significant effects on body weight, the increase of total transverse fascicular area after the crush injury, the total number of myelinated fibers with their size distributions, or the number of nuclei of Schwann cells and macrophages. Therefore, we conclude that MS-818 promotes axonal sprouting and elongation after a crush injury in mice.
    Type of Medium: Electronic Resource
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  • 4
    ISSN: 1432-0533
    Keywords: Key words Nerve regeneration ; Peripheral nerve ; Neurofilament deficiency ; Morphometry ; Mutant quail
    Source: Springer Online Journal Archives 1860-2000
    Topics: Medicine
    Notes: Abstract Regeneration of myelinated fibers in the sciatic nerve 2 weeks after crush injury was studied morphometrically in mutant Japanese quails deficient in neurofilaments and in normal quails (controls). There were fewer regenerated myelinated fibers per nerve at 10 mm (R1) and 20 mm (R2) distal to the crush site in mutants than in controls (P 〈 0.05). Both median and maximum diameters were smaller (P 〈 0.01) in mutants than in controls. On electron microscopy, transverse axonal area and axonal circumference were smaller (P 〈 0.001) at both R1 and R2 in mutants than in controls. The number of myelin lamellae was less (P 〈 0.01) in mutants than in controls at R1, but was similar at R2. There were fewer myelin lamellae in relation to axonal area in mutants than in controls at R1 (P 〈 0.0001) and R2 (P = 0.0032). The results indicate a retardation of both radial growth of axons and myelination around axons of the same size in mutants compared with controls. Such retardation may be explained by the deficiency of neurofilaments and the altered relationship between Schwann cell and axon in the mutant.
    Type of Medium: Electronic Resource
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