1,721,259 research outputs found
Attività sportiva nel bambino con patologie neuromuscolari [Physical activity in the child with neuromuscular diseases]
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Correspondence to Levetiracetam in Neonatal Seizures as First-Line Treatment
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Interferenze elettromagnetiche su dispositivi medici: aspetti protezionistici di rilievo
No full textPyridoxine dependent epilepsies: new therapeutical point of view
Full text linkAbstract Pyridoxine dependent epilepsies (PDEs) are rare autosomal recessive disorders with onset in neonatal period. Seizures are typically not responsive to conventional antiepileptic drugs, but they cease after parental pyridoxine administration. Atypical forms are characterized partly response to pyridoxine and a late onset of symptoms (up to the age of three years). Prevalence is variable and it has rarely been described. The genes involved in PDEs are the gene encoding for the Alpha-aminoadipic-semialdehyde dehydrogenase (ALDH7A1) and PROSC gene, which encodes a pyridoxal-5-phosphate binding protein. Mutations in the gene encoding for the pyridoxal-5′-phosphate oxidase enzyme (PNPO) are responsible of a clinical entity similar to PDEs responsive to pyridoxal-5-phosphate administration not to pyridoxine administration. PDEs diagnosis is often delayed because they are suspected only after conventional anticonvulsant drugs resistance. Herein authors aim to present an expert point of view on PDEs in childhood, reviewing the most recent literature data and proposing a new therapeutical approach for seizures of unknown origin in all those children up to the age of three years
Could electrical needle stimulation reduce diagnostic errors in electromyography?
No full textDuring the electromyographic examination there is a risk of wrongly inserting the needle in a muscular area contiguous to the muscle of investigation. The objective of the work is to verify the mistakes chance during the needle placement into the muscle target. We have investigated on 45 patients the identification of the insertion site by electrical stimulation of the muscle, where the needle electrode is inserted, through the same recording needle and calculated how many times the needle can be inserted incorrectly in a muscle close to muscle target. The results showed that during standard needle electromyographic there are a significant error prevalence (33.3%) in the examination of some deeper muscles such as pronator teres (26.3%) and tibialis posterior (40.5%). In conclusion, a correct identification of the muscles tested may a useful practice for all patients especially in patients with motor recruitment problems avoiding other serial examinations and reducing patients discomfort. In other hand, this kind of method can be helpful during a training for a neurophysiologist to improve their technical skill
Exposure to magnetic fields of railway engine drivers: A case study in Italy
No full textA case study of exposure assessment of railway workers to static and extremely low frequency (ELF) magnetic fields is presented. A measurement campaign was conducted in aboard Italian main line trains. All measurements were performed on board during regular service (two engine drivers were simultaneously present), in all places potentially accessible to personnel, considering routes ranging from a few tens of kilometres to hundreds of kilometres. The measurement protocol was mostly based on broadband metres and personal metres were employed to assess individual exposure. Surveys on static and ELF magnetic fields were performed for seven different models of engine or electrified train. Traction motors were fed by alternating current (AC) current, except for two engines, where AC current fed only auxiliary services. The final result is that the average exposure to static magnetic field was a little higher than the background geomagnetic field; occasionally in few areas it could reach levels of the order of millitesla. The average exposure to ELF magnetic fields was in the order of 1-2 μT, with higher levels (few microtesla) only for one engine; occasionally in hot spots, close to wiring or specific equipment, the field values could reach several tens of microtesla. © The Author 2010. Published by Oxford University Press. All rights reserved
Microcephaly/Trigonocephaly, Intellectual Disability, Autism Spectrum Disorder, and Atypical Dysmorphic Features in a Boy with Xp22.31 Duplication
Full text linkThe Xp22.31 segment of the short arm of the human X chromosome is a region of high instability with frequent rearrangement. The duplication of this region has been found in healthy people as well as in individuals with varying degrees of neurological impairment. The incidence has been reported in a range of 0.4-0.44% of the patients with neurological impairment. Moreover, there is evidence that Xp22.31 duplication may cause a common phenotype including developmental delay, intellectual disability, feeding difficulty, autistic spectrum disorders, hypotonia, seizures, and talipes. We report on a patient with microcephaly and trigonocephaly, moderate intellectual disability, speech and language delay, and poor social interaction in addition to minor but atypical dysmorphic features. This report provides further insight into the pathogenicity of the Xp22.31 duplication by extending knowledge of its clinical features. This case, in association with those reported in the literature, indicates that the Xp22.31 duplication may contribute to cause pathological phenotypes with minor facial dysmorphisms, microcephaly, and intellectual disability as main features
Molecular Mechanism Involved in the Pathogenesis of Early-Onset Epileptic Encephalopathy
Full text linkRecent studies have shown that neurologic inflammation may both precipitate and sustain seizures, suggesting that inflammation may be involved not only in epileptogenesis but also in determining the drug-resistant profile. Extensive literature data during these last years have identified a number of inflammatory markers involved in these processes of "neuroimmunoinflammation" in epilepsy, with key roles for pro-inflammatory cytokines such as: IL-6, IL-17 and IL-17 Receptor (IL-17R) axis, Tumor-Necrosis-Factor Alpha (TNF-α) and Transforming-Growth-Factor Beta (TGF-β), all responsible for the induction of processes of blood-brain barrier (BBB) disruption and inflammation of the Central Nervous System (CNS) itself. Nevertheless, many of these inflammatory biomarkers have also been implicated in the pathophysiologic process of other neurological diseases. Future studies will be needed to identify the disease-specific biomarkers in order to distinguish epilepsies from other neurological diseases, as well as recognize different epileptic semiology. In this context, biological markers of BBB disruption, as well as those reflecting its integrity, can be useful tools to determine the pathological process of a variety of neurological diseases. However; how these molecules may help in the diagnosis and prognostication of epileptic disorders remains yet to be determined. Herein, authors present an extensive literature review on the involvement of both, systemic and neuronal immune systems, in the early onset of epileptic encephalopathy
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