Publications by authors named "Maria Isabel Lima"
Article Synopsis
- - Reversible infantile respiratory chain deficiency is a serious condition in newborns caused by a specific mtDNA mutation (m.14674T>C) and certain nuclear gene variants; it typically resolves on its own.
- - Two cases are presented: a boy and a girl, both showing symptoms like weak muscle tone, feeding issues, high lactic acid levels, and distinctive muscle biopsy findings (ragged red fibers).
- - Early recognition of this condition is crucial for providing essential care during the first six months, and understanding how it resolves might lead to new treatments for other mitochondrial diseases.
Macrophagic myofasciitis (MMF) is an inflammatory myopathy related to aluminum-containing vaccines. Described in 1998, most cases were reported in adults, with only 22 cases being reported in children. Three children aged between 13 months and 3(1/2) years were investigated in our institution for neuromuscular symptoms.
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