CNTF may be considered as a potential biomarker candidate for ASDs in the context of severe ID. Our results support the hypothesis of neurotrophic imbalance in ASDs.
Two families with hereditary neuropathy with liability to pressure palsies (HNPP) were evaluated clinically, electrophysiologically and pathologically (2 index cases). Familial patterns suggest autosomal dominant inheritance. The clinical presentation is characteristic, with recurrent painless transitory mononeuropathy, without evident triggering factors, or caused by trivial trauma or pressure. In affected members neurophysiological studies showed diffuse slowing in nerve conduction, more evident at common sites of entrapment. Somatosensory evoked potentials (SEPs) showed bilateral peripheral abnormalities with proximal nerve involvement more pronounced in older patients. 40 to 75% of teased fibers displayed sausage-shaped swellings. Ultrastructurally some sausages showed redundant myelin loops and excessive number of myelin lamellae that seem to cause axonal constriction.
A multi-center survey of antiepileptic treatment was conducted in Italy on 245 previously untreated ("new") patients with epilepsy and 355 patients treated for more than three months ("old" patients). Therapeutic drug monitoring (TDM) of antiepileptic drugs was evaluated in the context of routine clinical conditions, in relation to individual therapeutic problems and mode of treatment. Plasma levels (PL) were determined in 75% of "new" patients and 78% of "old" patients, with wide intercenter variability. TDM was done at 69% of the follow-up attendences for "new" patients and at 34% for "old" patients, but was apparently unrelated to specific therapeutic problems, such as poor disease control or adverse drug reactions. Plasma drug concentration measurements were made more often among patients on polytherapy. The age of the patient and the time elapsing since diagnosis did not seem to affect request patterns significantly. From these findings it appears that TDM is largely influenced by factors unrelated to the common recommendations in the literature. In addition, the use of TDM in clinical practice reflects the limitations of the available techniques.
scite is a Brooklyn-based organization that helps researchers better discover and understand research articles through Smart Citations–citations that display the context of the citation and describe whether the article provides supporting or contrasting evidence. scite is used by students and researchers from around the world and is funded in part by the National Science Foundation and the National Institute on Drug Abuse of the National Institutes of Health.