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Early-onset cerebellar ataxia, myoclonus and hypogonadism in a case of mitochondrial complex III deficiency treated with vitamins K3 and C (1995)

Toscano, A. ; Fazio, M. C. ; Vita, G. ; [et al.]

Springer

Journal of neurology 242 (1995), S. 203-209

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ISSN: 1432-1459

Keywords: Early-onset cerebellar ataxia ; Myoclonus ; Mitochondrial complex III deficiency ; Hypogonadotropic hypogonadism ; 31P-MR spectroscopy

Source: Springer Online Journal Archives 1860-2000

Topics: Medicine

Notes: Abstract A 16-year-old girl presented with early-onset cerebellar ataxia, myoclonus, elevated lactic acidosis and hypogonadotropic hypogonadism. Muscle biopsy specimens revealed fibres with a “ragged” appearance with increased mitochondria and lipid droplets. Biochemical investigation revealed a deficiency of complexbc 1 (complex III) of the mitochondrial respiratory chain. Genetic analysis did not show either deletions or known mutations of mitochondrial DNA (mtDNA). Phosphorus magnetic resonance spectroscopy (31P-MRS) showed defective energy metabolism in brain and gastrocnemius muscle. A decreased phosphocreatine (PCr) content was found in the occipital lobes accompanied by normal inorganic phosphate (Pi) and cytosolic pH. These findings represented evidence of a high cytosolic adenosine diphosphate concentration and a relatively high rate of metabolism accompanied by a low phosphorylation potential. Muscle31P-MRS showed a high Pi content at rest, abnormal exercise transfer pattern and a low rate of PCr post-exercise recovery. These findings suggested a deficit of mitochondrial function. Therapy with vitamins K3 and C normalized brain31P-MRS indices, whereas it did not affect muscle bioenergetic metabolism. In this patient, the endocrinological disorder is putatively due to a mitochondrial cytopathy. Although an unknown mtDNA mutation cannot be ruled out, the genetic defect may lie in the nuclear genome.

Type of Medium: Electronic Resource

URL: http://dx.doi.org/10.1007/BF00919592

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Effects of pulsed extremely-low-frequency magnetic fields on skin wounds in the rat (1988)

Ottani, V. ; De Pasquale, V. ; Govoni, P. ; [et al.]

New York, NY [u.a.] : Wiley-Blackwell

Bioelectromagnetics 9 (1988), S. 53-62

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ISSN: 0197-8462

Keywords: 50-Hz magnetic fields ; pulsed magnetic fields ; wound healing ; Life and Medical Sciences ; Occupational Health and Environmental Toxicology

Source: Wiley InterScience Backfile Collection 1832-2000

Topics: Biology , Physics

Notes: Rats with skin-wounds surgically created on their backs were exposed immediately after surgery and every 12 h thereafter to pulsed, extremely-low-frequency magnetic fields. The shape of the pulse was a positive triangle (50 Hz, 8 mT peak). The rate of healing of skin wounds was evaluated macroscopically and by light and electron microscopy at 6, 12, 21, and 42 days after the operation. A significant increase in the rate of wound contraction was found in rats treated with magnetic fields. Forty-two days after surgery all treated animals show fully closed wounds, while control rats at the same time intervals still lacked a final 6% of the wound surface to be covered. Treated rats showed earlier cellular organization, collagen formation and maturation, and a very early appearance of newly formed vascular network.

Additional Material: 7 Ill.