A simple test is described for identifying patients with abnormalities of muscle energy metabolism secondary to mitochondrial dysfunction, based on the venous lactate response to exercise at 90% of predicted work rate at the anaerobic threshold. The test was standardised for age, weight and sex of subjects, and was abnormal in all cases of mitochondrial cytopathy tested, with a false positive r...

A9-year-old boy presented with headache, vomiting, and leftward eye gaze deviation. On examination, left homonymous hemianopia, horizontal nystagmus, and anisocoric pupils were noted. Brain CT disclosed symmetric calcification in basal ganglia (figure A). Blood examination showed lactic academia. Further MRI revealed right occipito-temporo-parietal cortical hyperintensities (figure, B and C). M...

Mit-DNA is mainly responsible for cell respiration in biological systems, and the genetic alteration of mit-DNA affects mitochondrial activity. It will be here analyzed a well defined mitochondrial cytopathy which is connected, from the moment of birth, with several inherited diseases, such as cancer. The chance to investigate, indirectly and through bed-side evaluation, mitochondria functional...

OBJECTIVE To define the indications for tracheotomy in patients requiring prolonged intubation (>1 week) in the pediatric intensive care unit (PICU). DESIGN Retrospective chart review and follow-up telephone survey. SETTING A tertiary care center PICU. OUTCOME MEASURE Tracheotomy or extubation. PATIENTS All patients older than 30 days in the PICU intubated for longer than 1 week between...

Mitochondrial cytopathies are a diverse group of inherited and acquired disorders that result in inadequate energy production. They can be caused by inheritable genetic mutations, acquired somatic mutations, exposure to toxins (including some prescription medications), and the aging process itself. In addition, a number of well-described diseases can decrease mitochondrial energy production; th...

A 45-year-old male was referred for diabetes mellitus. Clinical examination found a family history of multiple precocious deaths, strong consanguinity, personal history of seizures during childhood, small testicles, small penis, sparse body hair, long arms and legs, dysmorphic features, mental retardation, dysarthria, tremor, and mild gait ataxia. Investigations found pigmentary retinitis, meta...