Gene/Protein
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Enzyme
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Pivot Concepts:
Gene/Protein
Disease
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Drug
Enzyme
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Target Concepts:
Gene/Protein
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Query: UMLS:C0033377 (
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11,717
document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)
Clinical follow up and complete neuropathological examination was made on seven cases of multicystic
encephalomalacia
of infancy. Etiological factors were carefully studied in all the cases. They consisted of prenatal injuries presenting as a cord
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, in 3 cases; prolonged labour with marked cyanosis; abdominal trauma during gestation, and various maternal infections at different stages of pregnancy. Pathological interest is centred on the variable involvement of different areas of the brain, generally sparing the cerebellum and brain stem, and being minimal or absent in the occipito-temporal areas. This distribution may be explained by a different effect of the "causal agency" on these different areas, or by a different capacity of these regions to react against injury. Among the etiological factors reviewed in the literature, the anoxic theory appears the most probable, as there was a close parallelism between lesions and vascular areas, mainly the carotid and vertebro-basilar systems.
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PMID:Multicystic encephalomalacia of infancy: clinico-pathological report of 7 cases. 71 82
Mitochondrial myopathy, encephalopathy with lactic acidosis and stroke-like episodes (MELAS) syndrome is one of the mitochondrial encephalomyopathies that has distinct clinical features including stroke-like episodes with migraine-like headache, nausea, vomiting, encephalopathy and lactic acidosis. We report a 27-year-old woman who presented with partial seizure, stroke-like episodes including hemiparesis, hemianopia and hemihypethesia, sensorineural hearing loss, migraine-like headache, and lactic acidosis. Brain computed tomographic scan showed
encephalomalacia
in the right parieto-occipital area and recent hypodensity in the left temporoparieto-occipital area with cortical atrophy. Muscle biopsy revealed ragged-red fibers and paracrystaline inclusions in the mitochondria. Genetic study revealed an A to G point mutation at nucleotide position (np) 3243 of mitochondrial DNA. External ophthalmoplegia and
ptosis
were also found during two exaggerated episodes in this patient. Therefore, the overlapping syndrome of chronic progressive external ophthalmoplegia in the MELAS syndrome is considered in this case. Furthermore, we also found carnitine deficiency in this patient and she was responsive well to steroid therapy. Muscle biopsy also revealed excessive lipid droplets deposits. Therefore, the carnitine deficiency may occur in MELAS syndrome with the A to G point mutation at np 3243. We recommend the steroid or carnitine supplement therapy be applied to the MELAS syndrome with carnitine deficiency.
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PMID:CPEO and carnitine deficiency overlapping in MELAS syndrome. 748 81