RESUMO
This 54year old woman presented with symptoms of sensory ataxic neuropathy, with cerebellar features. She developed further weakness, visual disturbances with diplopia, dysarthria and dysphasia. After her death at 66years, she was found to have compound heterozygous mutations of POLG1 gene in muscle, and Southern blot showed low levels of multiple deletions of mitochondrial DNA. Neuropathological examination showed profound dorsal column and dorsal spinocerebellar tract degeneration, degeneration of dorsal root ganglia and Clarke's nucleus in spinal cord and severe predominantly sensory peripheral neuropathy. The brain showed severe neuronal loss and gliosis in substantia nigra, medial posterior thalamus and head of caudate. Excess numbers of COX-negative fibres and "ragged-red" fibres were found in five skeletal muscles sampled.
Assuntos
DNA Polimerase Dirigida por DNA/genética , Predisposição Genética para Doença/genética , Doenças Musculares/genética , Mutação , Doenças do Sistema Nervoso Periférico/genética , Doenças da Medula Espinal/genética , Degenerações Espinocerebelares/genética , Idoso , DNA Polimerase gama , DNA Mitocondrial/genética , Evolução Fatal , Feminino , Genes Recessivos/genética , Heterozigoto , Humanos , Pessoa de Meia-Idade , Doenças Musculares/diagnóstico , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/patologia , Doenças da Medula Espinal/diagnóstico , Doenças da Medula Espinal/patologia , Degenerações Espinocerebelares/patologiaRESUMO
It is found that the nitrite in water is converted into nitrate by irradiation in the presence of oxygen and titanium dioxide which acts as a catalyst. As nitrate is a less hazardous contaminant, this method might be worth investigating further for the treatment of water.