The progressive myoclonus epilepsies (PMEs) comprise a group of rare and heterogeneous disorders defined by the combination of action myoclonus, epileptic seizures, and progressive neurologic deterioration. Neurologic deterioration may include progressive cognitive decline, ataxia, neuropathy, and myopathy. The gene defects for the most common forms of PME (Unverricht-Lundborg disease, Lafora d...

Mitochondrial encephalopathies (MEs) are characterized by an extreme clinical heterogeneity since they can involve different systems and manifest at distinct ages with variable course. Many affected individuals display a cluster of clinical features that fall into discrete syndromes among syndromic pictures, epilepsy is relevant in myoclonic epilepsy with ragged-red fibers (MERRF), mitochondria...

We demonstrate a novel imaging fiber bundle ("hexabundle") that is suitable for low-light applications in astronomy. The most successful survey instruments at optical-infrared wavelengths use hundreds to thousands of multimode fibers fed to one or more spectrographs. Since most celestial sources are spatially extended on the celestial sphere, a hexabundle provides spectroscopic information at m...

Purpose. To determine the association between the two methods of obtaining current perception thresholds (CPTs) in the lower urinary tract (LUT). Materials and Methods. Twenty-one women undergoing pelvic surgery underwent CPT determinations of the urethra. CPTs were measured at 2,000, 250, and 5 Hz (corresponding to A-β, A-δ, and C fibers, resp.) both pre- and postoperatively. Threshold values ...

The phagocytic activity of leukocytes in peripheral blood was investigated after 2, 24, and 48 hr; 1, 2, 4, and 8 weeks; and 6 and 12 months following intraperitoneal administration of asbestos and basalt fibers to Wistar rats. Asbestos and basalt fibers differed in their effects on the parameters studied. Both granulocyte count and phagocytic activity of leukocytes during the 1-year dynamic fo...

Asbestos fibers, members of complex crystal-chemical systems, possess some range in characteristic properties. Identification of fibers requires morphological, structural, and chemical data. Most current work centers on identification of single, sublight-microscopic fibers present as contaminants in a range of media. Constraints encountered in the analysis of such materials are: sample preparat...

Progressive myoclonic epilepsy (PME) is a syndrome complex encompassing different diagnostic entities and often cause problems in diagnosis. We describe the clinical, electrophysiological and pathological features of 97 patients with the diagnosis of PME evaluated over 25 years. Case records of confirmed patients of Neuronal ceroid lipofuscinosis (NCL = 40), Lafora body disease (LBD = 38), Myoc...