48 research outputs found
Efficacy and safety of topiramate in refractory epilepsy of childhood: long-term follow-up study
No full textThis study aimed to evaluate the long-term efficacy and safety of topiramate in treating children with drug-resistant epilepsy. A multicentric, retrospective, open-label, add-on study was undertaken of 277 children (mean age 8.4 years; range 12 months to 16 years) affected by drug-resistant epilepsy. The efficacy was rated according to the seizure types and epilepsy syndrome. After a mean period of 27.5 months of treatment (range 24-61 months), 11 patients (4%) were seizure free and 56 (20%) had more than 50% reduction in seizure frequency. The efficacy of topiramate treatment was noted in localization-related epilepsy and in generalized epilepsy. In addition, in a group of 114 patients, we compared the initial efficacy (evaluated after a mean of 9 months of follow-up) and the retention at a mean of 30 months of topiramate with regard to loss of efficacy (defined as the return to the baseline seizure frequency). Fifty-five (48%) of 114 patients were initial responders. The retention at a mean of 30 months was 23 of 114 patients (20%), 4 of whom (3.5%) were still seizure free. A loss of efficacy occurred in 32 of the 55 initial responders (58%). It was prominent in patients with generalized epilepsy, such as symptomatic infantile spasms and Lennox-Gastaut syndrome, as well as in those with Dravet syndrome. By contrast, a well-sustained topiramate efficacy was noted among patients with localization-related epilepsy. Globally, adverse events were observed in 161 patients (58%) and were mainly represented by weight loss, hyperthermia, sedation, and nervousness, which, in most cases, disappeared after slowing titration or reducing the dosage of the drug. In conclusion, the present long-term study confirms that topiramate represents a useful drug effective in a wide range of seizures and epilepsy syndromes. Moreover, preliminary data seem to suggest that the efficacy of topiramate, when evaluated in the long-term perspective, is more sustained in localization-related epilepsy than in generalized epilepsy
Open prospective study on oxcarbazepine in epilepsy in children: A preliminary report
No full textSummaryPurposeTo evaluate the long-term efficacy, tolerability, and safety of oxcarbazepine (OXC) in children with epilepsy.MethodsWe enrolled 36 patients (median age 7.75) with new diagnosis of partial epilepsy in an open prospective study. All type of epilepsy were included: 25 patients were affected by idiopathic epilepsy, eight by symptomatic epilepsy and three by cryptogenic epilepsy. Patients were then scheduled to come back for controls at 3 months (T1), 12 months (T2) and 24 months (T3) after the beginning of OXC-monotherapy (T0). At each control we evaluated patients through their seizure diary, a questionnaire on side effects, their level of 10-monohydroxy (MHD) metabolite and laboratory analysis.ResultsAt T1, 21/36 patients (58.3%) were seizure-free, 3/36 patients (8.3%) showed an improvement higher than 50%, 3/36 (8.3%) lower than 50%, while 2/36 worsened (5.6%). In 7/36 (19.5%) patients, no improvement was reported. At T2 13/18 patients (72.2%) were seizure-free, 1/18 showed a response to therapy higher than 50% while 2/18 worsened (11%). In two patients no improvement was reported. A correspondence between MHD plasmatic levels and clinical response (r=0.49; p<0.05) was only registered at T1.An EEG normalization was observed in 25% of cases. Side effects were reported in 25% of cases, but symptoms progressively disappeared at follow-up.ConclusionsWe can therefore conclude that OXC can be considered, for its efficacy and safety, as a first line drug in children with epilepsy
VNS in drug resistant epilepsy: preliminary report on a small group of patients
No full textAbstract Background In 1997 Vagus Nerve Stimulation (VNS) received approval from the US Food and Drug Administration (FDA) as an adjunctive therapy in the treatment of medically intractable partial epilepsy in people aged 12 years and older who are ineligible for resective epilepsy surgery. Although the exact mechanisms of action are unknown, the use of VNS with children has increased, including those younger than 12 years of age, or those with generalized epilepsy. Methods We describe the outcome for the first group of nine patients, aged 8-28 years, who had pharmaco-resistant epilepsy and were treated with VNS. During the follow up, we gradually and slowly increased the parameters of the stimulation in order to assess the efficacy of VNS even at parameters which would usually be considered "non-therapeutic", along with possible side effects and changes in quality of life. Results At the last follow, up 1 patient was "seizures free", 3 were "very good responders", 3 were "good responders" and 2 were "non responders". We obtained an initial seizure reduction with low stimulation parameters, the highest current reached being 2.00 mA. This observation supports the possibility that, for younger patients, lower stimulation intensities than those commonly used in clinical practice for adults can be therapeutic. We also wanted to underline the reduction in seizure frequency (~91,7%) and the reduction in seizure duration (> 50%) in the patients affected by drug-resistant absence epilepsy. Adverse effects were mild, tolerable and, in most of cases, easily resolved by adjusting the stimulation parameters. Hoarseness of voice was the most frequent side effect. The improvements in the quality of life are relevant and seem to be independent of the VNS effect in controlling seizures. Conclusions Our small experience seems to confirm the efficacy and safety of VNS in drug resistant partial and generalized epilepsy in developing age groups.</p
Symmetry breaking and instability for semilinear elliptic equations in spherical sectors and cones
No full textWe consider semilinear elliptic equations with mixed boundary conditions in spherical sectors inside a cone. The aim of the paper is to show that a radial symmetry result of Gidas-Ni-Nirenberg type for positive solutions does not hold in general nonconvex cones. This symmetry breaking result is achieved by studying the Morse index of radial positive solutions and analyzing how it depends on the domain D on the unit sphere which spans the cone. In particular it is proved that the Neumann eigenvalues of the Laplace Beltrami operator on D play a role in computing the Morse index. A similar breaking of symmetry result is obtained for the positive solutions of the critical Neumann problem in the whole unbounded cone. In this case it is proved that the standard bubbles, which are the only radial solutions, become unstable for a class of nonconvex cones. (c) 2024 The Author(s). Published by Elsevier Masson SAS. This is an open access article under the CC BY license (http://creativecommons .org /licenses /by /4 .0/)
The legacy of Corrado Gini in population studies
No full textThis volume contains 12 papers that range over many different research subjects, taking in many of the population questions that, directly or indirectly, absorbed Corrado Gini as demographer and social scientist over several decades. They vary from the analysis of the living conditions and behaviours of the growing foreign population (measurements and methods of analysis, socio-economic conditions and health, ethnic residential segregation, sex-ratio at birth), to studies on the homogamy of couples; from population theories (with reference to the cyclical theory of populations) to the modelling approach to estimating mortality in adult ages or estimating time transfers, by age and sex, related to informal child care and adult care; from historical studies that take up themes dear to Gini (such as the estimates of Italian military deaths in WWI), to the application of Gini’s classical measurements to studying significant phenomena today (transition to adulthood and leaving the parental home, health care, disabled persons and social integration).
The subjects and measurements that appear here are not intended to exhaust the broad spectrum of Gini’s research work in the demographic and social field (nor could they), but they can make up a part of the intersection between his vast legacy and some interesting topics in current research, some of which were not even imaginable in the mid twentieth century.
Looking at the many contributions that celebrated Gini in Treviso and thinking about his legacy, it seems possible to identify at least two typologies of approach, to be found in this issue of the journal, too. On the one hand, there are contributions that aim to retrieve and discuss themes, methodologies and measurements dealt with or used by Gini so as to evaluate their present relevance and importance in the current scholarly debate. On the other, there are contributions that deal with topics that are far from Gini’s work, as they study very recent phenomena, but actually, among other things, make use of methods and indicators devised by Gini that are now so much part of the common currency of methodology, so they don’t require explicit reference to their Author
Epidemiology of invasive fungal infections in the intensive care unit: results of a multicenter Italian survey (AURORA Project).
No full textAbstract
Purpose: The aims of this study are to evaluate the epidemiology of invasive fungal infections (IFIs) in patients admitted to an intensive care unit (ICU) in Southern Italy and the in vitro antifungal susceptibility of isolates. Methods: A surveillance program was implemented in 18 ICUs. IFI cases were recorded using a standardized form. Results: A total of 105 episodes of IFIs occurred in 5,561 patients during the 18-month study. The main infections were caused by yeasts, more than filamentous fungi (overall incidence of 16.5 cases per 1,000 admissions and 2.3 cases per 1,000 admissions, respectively). The overall crude mortality rate was high (42.8 %), particularly for mold infections (61.5 %). All yeast infections were Candida bloodstream infections. Over half (59.8 %) were caused by Candida non-albicans, with C. parapsilosis being the most common (61.8 %). In the multivariate model, trauma admission diagnosis, prolonged stay in the ICU, and parenteral nutrition were independently associated with candidemia due to C. parapsilosis [odds ratio (OR) 3.5, (1.8-5.2); OR 3.5, (1.02-3.5); OR 3.6, (1.28-6.99), respectively]. Among mold infections, 12 patients suffered from invasive pulmonary aspergillosis, with Aspergillus fumigatus as the predominant pathogen (41.7 %). One case of brain scedosporiosis was identified. Overall, azoles and echinocandins resistance was uncommon. Conclusions: Candida non-albicans species are the most frequent cause of candidemia in ICU patients. Mold infections are associated with a high mortality rate. This study confirms the importance of the epidemiological surveillance on IFIs in the ICU setting for documenting species distribution and antimicrobial susceptibility patterns to guide therapeutic choices. © 2013 The Author(s)
Optimizing the tight-binding parametrization of the quasi-one-dimensional superconductor K2Cr3As3
No full textWe study the tight-binding dispersion of the recently discovered superconductor K2Cr3As3, obtained from Wannier projection of Density Functional Theory (DFT) results. In order to establish quantitatively the actual degree of quasi-one-dimensionality of this compound, we analyze the electronic band structure for two reduced sets of hopping parameters: one restricted to the Cr-As tubes and another one retaining a minimal number of in-plane hoppings. The corresponding total and local density of states of the compound are also computed with the aim of assessing the tight-binding results with respect to the DFT ones. We find a quite good agreement with the DFT results for the more extended set of hopping parameters, especially for what concerns the orbitals that dominate at the Fermi level. Therefore, we conclude that one cannot avoid taking into account in-plane hoppings up to the next-nearest-neighbors cells even only to describe correctly the Fermi surface cuts and the populations along the kz direction. Such a choice of a minimal number of hopping parameters directly reflects in the possibility of correctly describing correlations and magnetic interactions. (c) 2018 Author(s). All article content, except where otherwise noted, is licensed under a Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/)
First Attack and Clinical Presentation of Hemiplegic Migraine in Pediatric Age: A Multicenter Retrospective Study and Literature Review
No full textBackground: Data on clinical presentation of Hemiplegic Migraine (HM) are quite limited in the literature, particularly in the pediatric age. The aim of the present study is to describe in detail the phenotypic features at onset and during the first years of disease of sporadic (SHM) and familial (FHM) pediatric hemiplegic migraine and to review the pertinent literature.
Results: Retrospective study of a cohort of children and adolescents diagnosed with hemiplegic migraine, recruited from 11 Italian specialized Juvenile Headache Centers. Forty-six cases (24 females) were collected and divided in two subgroups: 32 SHM (16 females), 14 FHM (8 females). Mean age at onset was 10.5 ± 3.8 y (range: 2–16 y). Mean duration of motor aura was 3.5 h (range: 5 min−48 h). SHM cases experienced more prolonged attacks than FHM cases, with significantly longer duration of both motor aura and of total HM attack. Sensory (65%) and basilar-type auras (63%) were frequently associated to the motor aura, without significant differences between SHM and FHM. At follow-up (mean duration 4.4 years) the mean frequency of attacks was 2.2 per year in the first year after disease onset, higher in FHM than in SHM cases (3.9 vs. 1.5 per year, respectively). A literature review retrieved seven studies, all but one were based on mixed adults and children cohorts.
Conclusions: This study represents the first Italian pediatric series of HM ever reported, including both FHM and SHM patients. Our cohort highlights that in the pediatric HM has an heterogeneous clinical onset. Children present fewer non-motor auras as compared to adults and in some cases the first attack is preceded by transient neurological signs and symptoms in early childhood. In SHM cases, attacks were less frequent but more severe and prolonged, while FHM patients had less intense but more frequent attacks and a longer phase of active disease. Differently from previous studies, the majority of our cases, even with early onset and severe attacks, had a favorable clinical evolution
Correction to: Long-term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real-world experience in Italy(Neurological Sciences, (2024), 10.1007/s10072-024-07494-9)
No full textThe article “Long‐term treatment of hereditary transthyretin amyloidosis with patisiran: multicentre, real‐world experience in Italy”, written by Luca Gentile, Anna Mazzeo, Chiara Briani, Silvia Casagrande, Marcella De Luca1, Gian Maria Fabrizi, Christian Gagliardi, Chiara Gemelli, Francesca Forcina, Marina Grandis, Valeria Guglielmino, Giacomo Iabichella, Luca Leonardi, Alessandro Lozza, Fiore Manganelli, Roberta Mussinelli, Filomena My, Giuseppe Occhipinti, Silvia Fenu, Massimo Russo, Angela Romano, Alessandro Salvalaggio, Matteo Tagliapietra, Stefano Tozza, Giovanni Palladini, Laura Obici and Marco Luigetti, was originally published electronically on the publisher’s internet portal on 16 April 2024 without open access. With the author(s)’ decision to opt for Open Choice the copyright of the article changed on 27 July 2024 to © The Author(s) 2024 and the article is forthwith distributed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit http://creativecommons.org/licenses/by/4.0. The original article has been corrected
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No full textAscidians present a striking dichotomy between conserved phenotypes and divergent genomes: embryonic cell lineages and gene expression patterns are conserved between distantly related species. Much research has focused on Ciona or Halocynthia spp. but development in other ascidians remains poorly characterized. In this study, we surveyed the multipotent myogenic B7.5 lineage in Molgula spp. Comparisons to the homologous lineage in Ciona revealed identical cell division and fate specification events that result in segregation of larval, cardiac, and pharyngeal muscle progenitors. Moreover, the expression patterns of key regulators are conserved, but cross-species transgenic assays uncovered incompatibility, or 'unintelligibility', of orthologous cis-regulatory sequences between Molgula and Ciona. These sequences drive identical expression patterns that are not recapitulated in cross-species assays. We show that this unintelligibility is likely due to changes in both cis- and trans-acting elements, hinting at widespread and frequent turnover of regulatory mechanisms underlying otherwise conserved aspects of ascidian embryogenesis
