305,187 research outputs found
Hereditary motor-sensory neuropathy (HMSN) type v of late onset
No full textWe describe a dominant disease affecting 18 members in three generations. Most patients were classified either as Charcot-Marie-Tooth or Strumpell-Lorraine diseases. The index patient was a 47 years old female who presented pes cavus, bilateral cramps at lower limbs, distal muscle atrophy and rapid progression. An EMG showed signs of neurogenic atrophy but deep tendon reflexes were increased. At 60 years, the patient had painful cramps and a muscle biopsy showed neurogenic denervation. SPECT showed hyporeaction in rolandic area. One sister, at 50 years had both distal atrophy, pes cavus and spastic paraparesis. EMG showed normal conduction velocities. All known linkage for Charcot-Marie-Tooth type la, Ib, Ic, and CMTX were negative. Also the disease did not map with CMT Ha, üb, nor with CMT FVa, FVb. Therefore this is a rare family whose gene location is still unknown
A velocity-thresholds power splitting optimization for hybrid electric vehicles
No full textThe various operating scenarios of hybrid electric vehicles (HEVs) require the design of suitable power splitting strategies for the hybrid drivetrain. A compromise between low complexity and high efficiency is always an issue for the power management implementation. In this paper the parallel HEV is assumed to operate under a power splitting strategy based on vehicle velocity and battery state of charge thresholds. The off-line minimization of a cost function related to the vehicle electrical and fuel consumptions determines the velocity-based quantization levels and the corresponding ratios of the power splitting between the actuators. The effectiveness of the proposed approach is verified through numerical simulations of the new European driving cycle and the worldwide harmonized light vehicle test procedure
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
A voltage-dependent calcium current in mouse Swiss 3T3 fibroblasts.
No full textPatch-clamp experiments in the whole-cell mode have been performed in Swiss 3T3 mouse fibroblasts. Depolarizations from negative holding potential (Vh less than -60 mV) gave rise to a rapidly activating, fully inactivating, inward current of few tenths of nA in physiological saline at 35 degrees C. The current persisted when external Na+ was replaced by impermeant TMA+ and disappeared in 0 Ca2+, 1 mM EGTA. The current was reversible blocked by Co2+ and it was slightly reduced when external Ca2+ was substituted by Ba2+. Finally its reversal potential changed with Nernstian slope with increasing external Ca2+ concentrations. It is concluded that these cells possess a voltage-dependent Ca2+ channel
Dispelling the Myths Behind First-author Citation Counts
No full textWe conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued
use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation
counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more
sophisticated methods
NEURO(NO)PATIE MOTORIE DISTALI FAMILIARI
No full textLe neuro(no)patie motorie distali (dHMN),
anche conosciute come CMT (Charcot-Marie-Tooth) spinali
o SMA (Spinal Muscular Atrophy) distali, sono
malattie che si caratterizzano per eterogeneità clinica e
genetica. Harding nel 1993 ha fornito una classificazione
delle dHMN basata sull’età di insorgenza, sulla modalità
di trasmissione e sulla presenza di caratteristiche aggiuntive.
Sono state definite quattro varianti autosomiche
dominanti (dHMN-I, dHMN-II, dHMN-V, dHMN-VII) e
tre autosomiche recessive (dHMN-III, dHMN-IV, dHMNVI).
Più recentemente, con l’introduzione degli studi di
linkage sull’intero genoma, sono state indagate famiglie
con dHMN, e sono stati portati alla luce tre nuovi sottotipi
clinico-genetici di cui due autosomici dominanti
(dHMN con segni piramidali e SMA distale congenita) ed
uno recessivo (dHMN Jerash). Vengono presentati i loci
ed i geni attualmente noti che rendono conto delle diverse
varianti cliniche e che permettono di fornire diagnosi
differenziale
Author, publisher and bookseller : a tripartite synergy in Nigerian book industry
No full textThis work is about the roles of Author, Publisher and Bookseller in Book development in
Nigeria. The paper started by delving into the history of Book Publishing in Nigeria after
which it proceeded by defining who an author, a publisher, and a bookseller is and
expatiated on the indispensable roles of these key actors in Nigerian Book Industry and in
the emerging Information Society. Furthermore, the various constraints to book
development were identified while the paper advised on how the Book Industry can be
further promoted in Nigeria. However, the paper concluded and made recommendations
on how the Book sector can help in enhancing scholarship in the country
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