bluuebunny/crossref_metadata_2025_split huggingface dataset:
The impact of genetics on the classification of epilepsy syndromes
Authors: Zara Federico , Bianchi Amedeo 
Published: May 2009

SummaryRecent progress in the genetics of epilepsies may potentially provide important insights into biologic processes underlying epileptogenesis. However, the genetic etiology underlying epilepsy remains largely unknown, and the impact of available genetic data on the nosology of epilepsy is still limited. Therefore, at present, classification of epileptic disorders should be mainly based on electroclinical features. In the future, it is likely that the investigation of familial traits will lead to the definition of novel syndromes and that genotype–phenotype correlations in inherited conditions will shed light on the variable expressivity of epileptic disorders. Moreover, the discovery of new epilepsy genes may allow assessment of whether different phenotypes are etiologically linked.
Clinical spectrum of SCN1A mutations
Authors: Gambardella Antonio , Marini Carla 
Published: May 2009

SummaryMutations in the NaV1.1 neuronal sodium channel alpha‐subunit (SCN1A) gene have been documented in a spectrum of epilepsy syndromes, ranging from the relatively benign generalized epilepsy with febrile seizures plus (GEFS+) to severe myoclonic epilepsy in infancy (SMEI), and rare cases of familial migraine. More than 300 new mutations have been identified to date, with missense mutations being the most common in GEFS+ and more deleterious mutations (nonsense, frameshift) representing the majority of SMEI mutations. Microchromosomal abnormalities including SCN1A deletions, amplifications, and duplications are also found in patients with SMEI. Deletions range in size from one single exon to abnormalities extending beyond SCN1A and involving contiguous genes. The majority of SCN1A mutations in SMEI arise de novo. SCN1A mutations are found throughout the protein structure, and some clustering of mutations is observed in the C‐terminus and the loops between segments 5 and 6 of the first three domains of the protein. Functional studies so far show no consistent relationship between changes to channel properties and clinical phenotype.
Changes in Panayiotopoulos syndrome over time
Authors: Capovilla Giuseppe , Striano Pasquale , Beccaria Francesca 
Published: May 2009

SummaryIn its first description (1989), Panayiotopoulos syndrome was defined as an idiopathic epilepsy syndrome with an excellent prognosis, characterized by a clinical ictal triad of nocturnal seizures, tonic deviation of the eyes, and vomiting. The electroencephalographic and clinical features of this condition were highly suggestive of occipital lobe involvement. Subsequently, the concept of this benign age‐related focal epilepsy has been expanded over the years, including a wider and larger spectrum of seizure manifestations far beyond the occipital manifestations, and for which the eponym of Panayiotopoulos syndrome (PS) has been adopted. However, many theoretical and practical points, including diagnostic, genetic, and pathophysiologic issues remain still unresolved for PS.
Malignant migrating partial seizures in infancy: An epilepsy syndrome of unknown etiology
Authors: Coppola Giangennaro 
Published: May 2009

SummaryThe syndrome of malignant migrating partial seizures in infancy was first reported in 1995, and is now included among the childhood epilepsy syndromes in development in the proposal of the revision of the International League Against Epilepsy (ILAE) classification of the epilepsies and epilepsy syndromes. The main clinical features are seizure onset in the first 6 months of life, occurrence of almost continuous migrating polymorphous focal seizures, combined with multifocal ictal electroencephalography (EEG) discharges, and progressive deterioration of psychomotor development. Etiology is so far unknown. Seizures are markedly drug resistant and outcome is generally severe. Based on age at onset, migrating partial seizures in infancy (MMPEI) may be placed between early epileptic encephalopathies (early myoclonic encephalopathy [EME] and early infantile epileptic encephalopathy [EIEE]) and infantile spasms.
Transient epileptic amnesia: An emerging late‐onset epileptic syndrome
Authors: Bilo Leonilda , Meo Roberta , Ruosi Patrizia , De Leva Maria Fulvia , Striano Salvatore 
Published: May 2009

SummaryTransient epileptic amnesia (TEA) is a distinct neurologic condition occurring in late‐middle/old age and presenting with amnesic attacks of epileptic nature and interictal memory disturbances. For many years this condition has been associated with the nonepileptic condition of transient global amnesia (TGA) and still today is poorly recognized by clinicians. Despite the clinical and laboratory findings that distinguish TEA from TGA, differential diagnosis may be difficult in the individual patient. Every effort must be employed for an early diagnosis, since antiepileptic treatment may readily control both ictal episodes and memory disturbances.
Hepcidin Regulation in Wild‐Type and Hfe Knockout Mice in Response to Alcohol Consumption: Evidence for an Alcohol‐Induced Hypoxic Response
Authors: Heritage Mandy L. , Murphy Therese L. , Bridle Kim R. , Anderson Gregory J. , Crawford Darrell H. G. , Fletcher Linda M. 
Published: May 2009

Background /Aims:  Expression of Hamp1, the gene encoding the iron regulatory peptide hepcidin, is inappropriately low in HFE‐associated hereditary hemochromatosis and Hfe knockout mice (Hfe−/−). Since chronic alcohol consumption is also associated with disturbances in iron metabolism, we investigated the effects of alcohol consumption on hepcidin mRNA expression in Hfe−/− mice.Methods:  Hfe
−/− and C57BL/6 (wild‐type) mice were pair‐fed either an alcohol liquid diet or control diet for up to 8 weeks. The mRNA levels of hepcidin and ferroportin were measured at the mRNA level by RT‐PCR and protein expression of hypoxia inducible factor‐1 alpha (HIF‐1α) was measured by western blot.Results:  Hamp1 mRNA expression was significantly decreased and duodenal ferroportin expression was increased in alcohol‐fed wild‐type mice at 8 weeks. Time course experiments showed that the decrease in hepcidin mRNA was not immediate, but was significant by 4 weeks. Consistent with the genetic defect, Hamp1 mRNA was decreased and duodenal ferroportin mRNA expression was increased in Hfe−/− mice fed on the control diet compared with wild‐type animals and alcohol further exacerbated these effects. HIF‐1α protein levels were elevated in alcohol‐fed wild‐type animals compared with controls.Conclusion:  Alcohol may decrease Hamp1 gene expression independently of the HFE pathway possibly via alcohol‐induced hypoxia.
Procysteine Stimulates Expression of Key Anabolic Factors and Reduces Plantaris Atrophy in Alcohol‐Fed Rats
Authors: Otis Jeffrey S. , Guidot David M. 
Published: May 2009

Background:  Long‐term alcohol ingestion may produce severe oxidant stress and lead to skeletal muscle dysfunction. Emerging evidence has suggested that members of the interleukin‐6 (IL‐6) family of cytokines play diverse roles in the regulation of skeletal muscle mass. Thus, our goals were (i) to minimize the degree of oxidant stress and attenuate atrophy by supplementing the diets of alcohol‐fed rats with the glutathione precursor, procysteine, and (ii) to identify the roles of IL‐6 family members in alcoholic myopathy.Methods:  Age‐ and gender‐matched Sprague‐Dawley rats were fed the Lieber‐DeCarli liquid diet containing either alcohol or an isocaloric substitution (control diet) for 35 weeks. Subgroups of alcohol‐fed rats received procysteine (0.35%, w/v) for the final 12 weeks. Plantaris morphology was assessed by hematoxylin and eosin staining. Major components of glutathione metabolism were determined using assay kits. Real‐time PCR was used to determine expression levels of several genes.Results:  Plantaris muscles from alcohol‐fed rats displayed extensive atrophy, as well as decreased glutathione levels, decreased activities of glutathione reductase and glutathione peroxidase, decreased superoxide dismutase (SOD)‐2 (Mn‐SOD2), and increased NADPH oxidase‐1 gene expression—each indicative of significant oxidant stress. Alcohol also induced gene expression of catabolic factors including IL‐6, oncostatin M, atrogin‐1, muscle ring finger protein‐1, and IGFBP‐1. Procysteine treatment attenuated plantaris atrophy, restored glutathione levels, and increased catalase, Cu/Zn‐SOD1, and Mn‐SOD2 mRNA expression, but did not reduce other markers of oxidant stress or levels of these catabolic factors. Instead, procysteine stimulated gene expression of anabolic factors such as insulin‐like growth factor‐1, ciliary neurotrophic factor, and cardiotrophin‐1.Conclusions:  Procysteine significantly attenuated, but did not completely abrogate, alcohol‐induced oxidant stress or catabolic factors. Rather, procysteine minimized the extent of plantaris atrophy by inducing components of several anabolic pathways. Therefore, anti‐oxidant treatments such as procysteine supplementation may benefit individuals with alcoholic myopathy.
Preclinical Evaluation of Riluzole: Assessments of Ethanol Self‐Administration and Ethanol Withdrawal Symptoms
Authors: Besheer Joyce , Lepoutre Veronique , Hodge Clyde W. 
Published: May 2009

Background: Many of the neurobehavioral effects of ethanol are mediated by inhibition of excitatoryN‐methyl‐d‐aspartate (NMDA) and enhancement of inhibitory γ‐amino‐butyric‐acid (GABA) receptor systems. There is growing interest in drugs that alter these systems as potential medications for problems associated with alcoholism. The drug riluzole, approved for treatment of amyotrophic lateral sclerosis (ALS), inhibits NMDA and enhances GABAAreceptor system activity. This study was designed to determine the preclinical efficacy of riluzole to modulate ethanol self‐administration and withdrawal.Methods: Male C57BL/6J mice were trained to lever press on a concurrent fixed‐ratio 1 schedule of ethanol (10% v/v) versus water reinforcement during daily 16‐hour sessions. Riluzole (1 to 40 mg/kg, IP) was evaluated on ethanol self‐administration after acute and chronic (2 week) treatment. To determine if riluzole influences ethanol withdrawal‐associated seizures, mice were fed an ethanol‐containing or control liquid diet for 18 days. The effects of a single injection of riluzole (30 mg/kg) were examined on handling‐induced convulsions after ethanol withdrawal.Results: Acute riluzole (30 and 40 mg/kg) reduced ethanol self‐administration during the first 4 hours of the session, which corresponds to the known pharmacokinetics of this drug. Ethanol self‐administration was also reduced by riluzole after chronic treatment. Riluzole (30 mg/kg) significantly decreased the severity of ethanol‐induced convulsions 2 hours after ethanol withdrawal.Conclusions: These results demonstrate that riluzole decreases ethanol self‐administration and may reduce ethanol withdrawal severity in mice. Thus, riluzole may have utility in the treatment of problems associated with alcoholism.
Selecting the Transthoracic Defibrillation Shock Directional Vector Based on VF Amplitude Improves Shock Success
Authors: BROOKS LEONARD , ZHANG YI , DENDI RAGHUVEER , ANDERSON ROGER H. , ZIMMERMAN BRIDGET , KERBER RICHARD E. 
Published: May 2009

Introduction: Termination of ventricular fibrillation (VF) by a defibrillating shock is more likely to occur when the VF amplitude is larger. We hypothesized that a defibrillation shock would achieve higher success if the shock vector was oriented along the largest of the VF amplitudes measured simultaneously in 3 orthogonal ECG leads, and that this axis could be determined near‐instantaneously in real time. Methods and Results: In 9 closed‐chest anesthetized swine, a new directional defibrillation (DD) device was used to simultaneously measure the VF peak amplitudes displayed by 3 orthogonal pairs of defibrillation electrodes: anterior–posterior, lateral–lateral, and superior–inferior. Four shocks at each of 3 energy levels (30 Joules [J], 50 J, and 100 J) were delivered through the electrode pair measuring the largest (LA) and smallest (SA) VF peak amplitude at the time of the shock. The odds of shock success (VF termination followed by a perfusing rhythm) were 5 times more likely when shocks were delivered from the LA electrodes than the SA electrodes (odds ratio 5.10, 95% CI: 1.39, 18.79). At the intermediate energy level of 50 J, shocks delivered through the LA electrode pairs had an almost 9 times higher odds of shock success than 50 J shocks delivered through the SA electrode pairs (68.3% vs 18.9%, P = 0.002) (odds ratio 8.94, 95% CI: 2.59, 30.82). Transthoracic impedance and current did not differ for shocks delivered in the LA versus SA groups. Conclusion: Choosing the defibrillation directional vector based on the largest VF amplitude improved shock success.
Efficacy and safety of fumaric acid esters in the long‐term treatment of psoriasis – A retrospective study (FUTURE)
Authors: Reich Kristian , Thaci Diamant , Mrowietz Ulrich , Kamps Anja , Neureither Marcus , Luger Thomas 
Published: May 2009

Summary Background: This study collected data on the safety and efficacy of fumaric acid esters (FAE; Fumaderm®) in the long‐term treatment of psoriasis. Patients and Methods: Patients were included at 163 dermatological centers if they either had been treated continuously with FAE for at least 24 months, or for 36 months with interruptions of no longer than 6 months. Data were reported from baseline, after 3, 6, 12, 24, and 36 or more months of therapy. Safety parameters were monitored and the severity of skin symptoms was assessed by “Physician's Global Assessment” (PGA) and “Psoriasis Area and Severity Index” (PASI). Results: 984 patients were included with a mean duration of 44 months of continuous treatment. The percentage of patients documented as markedly improved or clear was 67 % after six months, 78 % after 24 months, and 82 % after 36 months of therapy. Improvement was similar in patients with moderate and severe disease. Changes of laboratory parameters were usually insignificant and did not require a modification of FAE treatment in more than 90 % of the cases. Conclusions: In the long‐term treatment of patients with moderate and severe psoriasis FAE show a good and sustained clinical efficacy combined with a favorable safety profile.
Assessing the Exchange Rate Sensitivity of U.S. Bilateral Agricultural Trade
Authors: Baek Jungho , Koo Won W. 
Published: May 2009

This paper uses an autoregressive distributed lag approach to cointegration to examine the short‐ and long‐run effects of exchange rate changes on bilateral trade of agricultural products between the United States and its 10 major trading partners. Results show that, in the long run, while U.S. agricultural exports are highly sensitive to bilateral exchange rates and foreign income, U.S. agricultural imports are mostly responsive to the U.S. domestic income. In the short run, on the other hand, both the bilateral exchange rates and income in the United States and its trading partners are found to have significant impacts on U.S. agricultural exports and imports. Dans le présent article, nous avons utilisé un modèle autorégressif à retards échelonnés (autoregressive distributed lag (ARDL) approach to cointegration) pour examiner les effets à court et à long terme des variations de taux de change sur le commerce bilatéral des produits agricoles entre les États‐Unis et ses dix principaux partenaires commerciaux. Les résultats ont montré que, à long terme, bien que les exportations agricoles des États‐Unis soient très sensibles aux taux de change bilatéraux et au revenu étranger, les importations agricoles des États‐Unis sont principalement sensibles au revenu intérieur des États‐Unis. À court terme, par contre, les taux de change bilatéraux et le revenu des États‐Unis et de ses partenaires commerciaux ont des répercussions considérables sur les exportations et les importations agricoles des États‐Unis.
Does Choice Context Affect the Results from Incentive‐Compatible Experiments? The Case of Non‐GM and Country‐of‐Origin Premia in Canola Oil
Authors: Volinskiy Dmitriy , Adamowicz Wiktor L. , Veeman Michele , Srivastava Lorie 
Published: May 2009

We seek to design and implement a WTP elicitation instrument closely resembling an actual grocery shopping experience. An incentive‐compatible choice experiment is used to elicit values for a non‐GM attribute and a country‐of‐origin attribute of Canola oil. The choice context is varied to assess whether revealed‐preference choice experiments are affected by choice variety. A median premium for non‐GM Canola oil is found to approximate C$0.45 or C$0.62/liter according to the choice variety context; different country‐of‐origin effects are also found as choice context varies. Hypotheses as to why these significant effects of choice contexts occur are suggested. Nous cherchons à concevoir et à mettre en application un instrument de révélation de la VDP qui ressemble étroitement aux choix que fait un consommateur lorsqu’il effectue son marché. Nous avons utilisé une méthode expérimentale compatible avec les incitations des participants afin de découvrir la valeur accordée à deux caractéristiques de l’huile de canola: non génétiquement modifiée et étiquetée selon le pays d’origine. La liste des choix est variée afin d’évaluer si les préférences révélées sont influencées par la gamme de choix. La prime médiane de l’huile de canola non génétiquement modifiée est d’environ 0,45 $CAN ou 0,62 $CAN le litre selon les choix proposés. Différents pays d’origine figurent aussi dans cette liste de choix. Nous avons formulé des hypothèses quant aux raisons pour lesquelles la gamme de choix a des effets importants.
Consumers' Preferences for GM Food and Voluntary Information Access: A Simultaneous Choice Analysis
Authors: Hu Wuyang , Adamowicz Wiktor L. , Veeman Michele M. 
Published: May 2009

Previous studies on information and consumer choices have typically assumed that information is exogenous in that information made available to consumers is generally treated as being both received and processed. Based on a choice experiment on consumers' stated preferences for genetically modified food that provides for voluntary information access, this study allows information access decisions to be endogenous to the product choice decision‐making process. Instead of assuming correlated error terms between these decisions, the approach used in this analysis builds upon structural correlations between two models that individually consider each of these two decisions. We find that the two types of decisions are related and that there is heterogeneity across individuals in the nature of this relationship. Des études antérieures sur l'information et les choix des consommateurs ont typiquement supposé que l'information est exogène, en ce sens que l'information mise à la disposition des consommateurs est généralement considérée comme étant à la fois reçue et traitée. Selon une méthode de choix expérimentaux sur les préférences déclarées des consommateurs quant aux aliments génétiquement modifiés offrant l'accès volontaire à l'information, la présente étude permet aux décisions d'accès à l'information d'être endogènes au processus de décision lié au choix du produit. Au lieu de supposer des termes d'erreur corrélés entre ces décisions, la méthode utilisée dans la présente analyse mise sur la corrélation structurale entre les deux modèles qui examinent individuellement ces deux décisions. Nous trouvons que les deux types de décisions sont liés et qu'il existe une hétérogénéité entre les individus quant à la nature de ce lien.
Isolation and characterization of 13 microsatellite loci for Neochamaelea pulverulenta (Cneoraceae)
Authors: RIGUEIRO CRISTINA , ARROYO JUAN M. , VALIDO ALFREDO , JORDANO PEDRO 
Published: May 2009

AbstractWe report 13 polymorphic nuclear microsatellite loci for Neochamaelea pulverulenta (Cneoraceae) using an enriched‐library approach. Although this plant species is tetraploid, expected patterns for tetrasomic segregation were completely absent, and all loci analysed showed a diploid pattern of inheritance. We detected a total of 102 alleles in 57 individuals genotyped (mean number of alleles per locus was 7.85). The values of observed and expected heterozygosities ranged from 0.193 to 0.737 and 0.425 to 0.812 respectively. Disomic segregation, levels of polymorphism and the exclusionary power of the developed markers render them readily applicable for parentage assignment of dispersed seeds, and for analyses of spatial genetic structure and population connectivity.
Observing Learned Object-specific Functional Grasps Preferentially Activates the Ventral Stream
Authors: Valyear Kenneth F. , Culham Jody C. 
Published: May 2009

Abstract
In one popular account of the human visual system, two streams are distinguished, a ventral stream specialized for perception and a dorsal stream specialized for action. The skillful use of familiar tools, however, is likely to involve the cooperation of both streams. Using functional magnetic resonance imaging, we scanned individuals while they viewed short movies of familiar tools being grasped in ways that were either consistent or inconsistent with how tools are typically grasped during use. Typical-for-use actions were predicted to preferentially activate parietal areas important for tool use. Instead, our results revealed several areas within the ventral stream, as well as the left posterior middle temporal gyrus, as preferentially active for our typical-for-use actions. We believe these findings reflect sensitivity to learned semantic associations and suggest a special role for these areas in representing object-specific actions. We hypothesize that during actual tool use a complex interplay between the two streams must take place, with ventral stream areas providing critical input as to how an object should be engaged in accordance with stored semantic knowledge.
Early Top–Down Control of Visual Processing Predicts Working Memory Performance
Authors: Rutman Aaron M. , Clapp Wesley C. , Chadick James Z. , Gazzaley Adam 
Published: May 2009

Abstract
Selective attention confers a behavioral benefit on both perceptual and working memory (WM) performance, often attributed to top–down modulation of sensory neural processing. However, the direct relationship between early activity modulation in sensory cortices during selective encoding and subsequent WM performance has not been established. To explore the influence of selective attention on WM recognition, we used electroencephalography to study the temporal dynamics of top–down modulation in a selective, delayed-recognition paradigm. Participants were presented with overlapped, “double-exposed” images of faces and natural scenes, and were instructed to either remember the face or the scene while simultaneously ignoring the other stimulus. Here, we present evidence that the degree to which participants modulate the early P100 (97–129 msec) event-related potential during selective stimulus encoding significantly correlates with their subsequent WM recognition. These results contribute to our evolving understanding of the mechanistic overlap between attention and memory.