Words similar to cytopathies
Example sentences for: cytopathies
How can you use “cytopathies” in a sentence? Here are some example sentences to help you improve your vocabulary:
Reye syndrome, a disorder of unknown cause, is characterized by acute encephalopathy and fatty degeneration of the liver and it is usually characterized by a history of preceding viral illness or the use of aspirin during viral infections [ 10 ] . Many children with metabolic disorders present with Reye-like syndrome episodes, usually at a young age and/or with a positive past or family history suspicious for an inborn error of metabolism [ 11 ] . It has been reported as a presenting sign of type I 3-MGC aciduria and in a few cases of mitochondrial cytopathies in older children [ 12 13 ] . However in the neonatal period, a Reye-like episode is not a typical presenting feature of a mitochondrial cytopathy.
It has been reported before that an increased excretion of orotate in sick children may not be uncommon and that a positive allopurinol load test may indicate unrecognized mitochondrial disease, making orotic acid as a potential marker of mitochondrial dysfunction [ 35 ] . A potential link between mitochondrial cytopathies and urea cycle dysfunction has also been suggested by the findings of hypocitrullinemia in patients with neurogenic weakness, ataxia and retinitis pigmentosa (NARP) syndrome (Mendelian Inheritance in Man database *551500) caused by a T8993G mutation in mtDNA that triggers ATPase deficiency [ 36 37 ] . It was hypothesized that the NARP mutation would cause complex V deficiency in the small intestine as well, thus reducing the availability of mitochondrial ATP required for citrulline synthesis.
Cardiac conduction disturbance has also been recognized in the mitochondrial cytopathy, Kearns-Sayre syndrome (Mendelian inheritance in Man database *530000), characterized as progressive external ophthalmoplegia and retinopathy [ 16 ] . Clinical manifestations of cardiac disease occur in 57% of patients with Kearns-Sayre syndrome [ 17 ] . The complete AV block in Kearns-Sayre syndrome may also be associated less commonly with ventricular tachycardia, torsade de pointes and ventricular fibrillation as the ultimate and often fatal stage of the condition [ 18 ] . However, to our knowledge, ventricular tachycardia as a presenting feature has not been described in the context of mitochondrial cytopathies in the neonatal period.
It has been noticed that if a patient is suspected of having a mitochondrial disease, abnormal carnitine esters may help with the diagnosis, [ 38 ] and abnormal acylcarnitine profiles do not exclusively indicate fatty acid oxidation disorders [ 39 ] . Although the abnormal carnitine ester present in the proband is elevated in organic acidemias and is not usually present in mitochondrial cytopathies, we speculate that due to compromised ATP synthesis, secondary alterations may be generated in these patients by changes in mitochondrial protein synthesis, decrease in Krebs cycle intermediates and increased free radical formation, that could be responsible for a secondary impairment of mitochondrial biotin dependent carboxylases, but further elucidation is necessary before we could arrive to a conclusion in this regard.
Mitochondrial cytopathies are a group of disorders that are clinically heterogeneous with variable forms of presentation.
Loading...