In a case of Fabry's disease, microscopic, ultrastructural, and biochemical studies of a muscle biopsy were performed, as well as microscopic, ultrastructural, and morphometric studies of a nerve biopsy. Pleomorphic lipid inclusions were observed in muscle fibers, fibroblasts, and endomysial capillaries. Moreover, the thermolabile isoenzyme A of alpha-D-galactosidase was almost completely absent. In the nerve specimen, polymorphous lysosomes were noted in perineural cells, in fibroblasts, and in endothelial and perithelial cells in association with some nonspecific degenerative changes. The morphometric data revealed a loss of large myelinated fibers, an uncommon finding in Fabry's disease, and a decrease of the average diameter of the unmyelinated fibers, which was related to axonal sprouting. The relationship between the pain attacks and the increased number of the small unmyelinated fibers is discussed.

Adult↗

PubMedDate not supplied

Long-chain 3-hydroxyacyl-CoA dehydrogenase deficiency and early-onset liver cirrhosis in two siblings.

UNLABELLED: We present the clinical, pathological, biochemical, and molecular results on an infant girl with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and data on her deceased elder brother for whom this condition was retrospectively diagnosed. Clinical signs were liver enlargement and elevated liver enzymes, failure to thrive, and neurological disease (coma, seizures) triggered by an infectious stress. In the second child hepatic failure and status epilepticus developed during the onset of a rotavirus gastroenteritis. A barbituric coma was induced, but hypotonia and lack of eye pursuit persisted after suppression of antiepileptic drugs. She ultimately died of heart failure. Unlike previously reported cases, both of these patients had early-onset cirrhosis, and severe neurological disease was observed in the second child. CONCLUSION: Liver cirrhosis and brain damage may be underestimated in cases of long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency and may occur early in life.

3-Hydroxyacyl CoA Dehydrogenases↗

PubMedDate not supplied

Multiresidue determination of pesticides in drinking and related waters by gas chromatography/mass spectrometry after solid-phase extraction: interlaboratory study.

As part of a project funded by the European Commission (EC) for the development and evaluation of multiresidue methods for analysis of drinking and related waters, 15 European laboratories evaluated a method using styrene-divinylbenzene co-polymer solid-phase extraction followed by gas chromatography/mass spectrometry. The main aim of the study was to evaluate whether the method meets the requirements of EC Directive 98/83 in terms of accuracy, precision, and detection limit for 22 pesticides according to the following requirements: limit of detection, < or = 0.025 microg/L; accuracy, expressed as recovery between 75 and 125%; and precision, expressed as repeatability relative standard deviation of the method of < 12.5% and as reproducibility relative standard deviation of the method of < 25%. Analyses for unknown concentrations were performed with fortified commercial bottled and tap waters. All laboratories were able to achieve detection limits of 0.01 microg/L for all pesticides except dimethoate and desisopropylatrazine (0.02 microg/L). The criteria for repeatability were met for all compounds except trifluralin, dimethoate, and lindane in bottled water and chlorpyrifos, dimethoate, and lindane in tap water. The criteria for reproducibility were met for all compounds except trifluralin, dimethoate, and lindane in bottled water and pendimethalin, chlorpyrifos, dimethoate, terbutryn, and lindane in tap water. In terms of accuracy, the method meets the requirements for all pesticides in both matrixes, except for lindane in bottled water and lindane and chlorpyrifos in tap water.

Algorithms↗