bluuebunny/crossref_metadata_2025_split huggingface dataset:
Neuroimaging and neuropathology of Dravet syndrome
Authors: Guerrini Renzo , Striano Pasquale , Catarino Claudia , Sisodiya Sanjay M. 
Published: April 2011

SummaryBrain magnetic resonance imaging (MRI) studies in patients with Dravet syndrome and SCN1A mutations have shown abnormal findings in a small minority of patients. The origin of the structural abnormalities—such focal brain atrophy, cortical dysplasia, and hippocampal sclerosis—observed in some children remains unclear. There seems to be no correlation between the presence of MRI abnormalities and duration of epilepsy, age at seizure onset, or the frequency of episodes of status epilepticus having occurred early in life. Recent descriptions of Rasmussen syndrome and of the hemiconvulsion–hemiplegia syndrome in isolated patients with SCN1A mutations are of uncertain meaning but might indicate that co‐occurring immunomediated or seizure‐induced structural changes can, in turn, become a substrate for the severe epileptic encephalopathy. The few available neuropathologic studies of Dravet syndrome have provided inconsistent findings, including evidence of subtle brain malformation. However, the underlying dysfunction of the SCN1A gene might confer to the brain a unique profile of vulnerability whose consequences are not easily disclosed by neuropathology and require specific experimental settings to be fully appreciated. There would seem to be value in studies in animal models of these aspects, as well as prospective studies in humans, with a particular view to establishing if earlier diagnosis and efforts at seizure control may influence the development of any clinical, imaging, or pathologic deterioration.
Cognitive and behavioral characteristics of children with Dravet syndrome: An overview
Authors: Guzzetta Francesco 
Published: April 2011

SummaryWe report an overview on early development of children with Dravet syndrome. After a historical outline of literature data, we refer to an Italian multicentric project, partially still in course. Because in the first year of life development seems impaired in Dravet syndrome as studies on precognitive abilities would show, defects in early development of visual function were detected heralding the subsequent cognitive decline. The delay of cognitive development, due to stagnation rather than a real deterioration, begins after the second year of life, although the age of onset varies. The extreme variability of development phenotype is confirmed and widened including also cognitive decline and severity of different defects of neuropsychological abilities as well as behavioral problems, especially associated with the cognitive decline. Mechanisms underlying neurodevelopment disorders and possible role of genetics are discussed.
Dravet syndrome: The long‐term outcome
Authors: Genton Pierre , Velizarova Reana , Dravet Charlotte 
Published: April 2011

SummaryFew studies focused on the long‐term outcome of Dravet syndrome in adulthood are available in the literature, but all are concordant. In this article, we consider the outcomes of 24 patients followed at the Centre Saint‐Paul, Marseille, up to the age of 50, and compare them to the patients reported in the literature. Five patients (20.8%) died, at a mean age of 24.8 years, one by status epilepticus, three by sudden unexpected death in epilepsy (SUDEP), and one of unknown cause. Epileptic seizures tend to become less frequent and less severe after childhood. Fever sensitivity (temperature variations) persists throughout the clinical course of DS, but its impact on seizure frequency and severity is milder than in infancy. Generalized convulsive seizures, mostly reported as generalized tonic–clonic seizures (GTCS), were the only seizure type observed in almost all of the patients, often with a focal onset. They are less frequent than in childhood and mostly nocturnal. Some of these major convulsive seizures have less typical aspects, for example, bilateral or asymmetric tonic posturing, followed in some cases by a tonic vibratory state or clonic movements (Oguni et al., Brain Dev 2001;23:736–748; Akiyama et al., Epilepsia 2010;51:1043–1052). Other seizures like myoclonic seizures, atypical absences, and complex partial seizures (CPS) are less common in adulthood: Among our 24 patients, only 6 had atypical absences, and one myoclonic and one complex focal seizures. Electroencephalography (EEG) also changes with age but is still multiple and heterogenous, interictally and ictally. Photosensitivity and pattern sensitivity also showed a tendency to disappear before the age of 20. Motor abnormalities are common. Cerebellar features, including ataxia, dysarthria, intention tremor, and eye movement disorder, become more prominent. Walking is markedly impaired, often due to orthopedic signs such as kyphosis, kyphoscoliosis, flat feet, or claw feet. This symptomatology was minor during childhood and worsened during and after adolescence, despite physiotherapy. Mental retardation ranged from moderate to severe, with predominance of language impairment, and some patients had a major personality disorder, labeled autistic or psychotic. Dependency in adulthood is nearly constant: Only 3 of our 24 adult patients lived independently.
Insights into pathophysiology and therapy from a mouse model of Dravet syndrome
Authors: Oakley John C. , Kalume Franck , Catterall William A. 
Published: April 2011

SummaryMutations in voltage‐gated sodium channels are associated with epilepsy syndromes with a wide range of severity. Complete loss of function in the Nav1.1 channel encoded by the SCN1A gene is associated with severe myoclonic epilepsy in infancy (SMEI), a devastating infantile‐onset epilepsy with ataxia, cognitive dysfunction, and febrile and afebrile seizures resistant to current medications. Genetic mouse models of SMEI have been created that strikingly recapitulate the SMEI phenotype including age and temperature dependence of seizures and ataxia. Loss‐of‐function in Nav1.1 channels results in severely impaired sodium current and action potential firing in hippocampal γ‐aminobutyric acid (GABA)ergic interneurons without detectable changes in excitatory pyramidal neurons. The resulting imbalance between excitation and inhibition likely contributes to hyperexcitability and seizures. Reduced sodium current and action potential firing in cerebellar Purkinje neurons likely contributes to comorbid ataxia. A mechanistic understanding of hyperexcitability, seizures, and comorbidities such as ataxia has led to novel strategies for treatment.
Dravet syndrome: Insights from in vitro experimental models
Authors: Mantegazza Massimo 
Published: April 2011

SummaryDravet syndrome is caused mainly by mutations of voltage‐gated Na+ channels (most of them targeting NaV1.1) and in few cases by mutations of γ‐aminobutyric acid (GABA)A receptor γ2 subunit. In vitro functional analysis has provided important information about the pathogenic mechanism of these mutations, which is in most cases consistent with reduced GABAergic inhibition and consequent hyperexcitability of neuronal circuits. However, interpretative difficulties have arisen, limiting the exploitation of the data generated with some in vitro experimental systems. I will review the functional studies of Dravet syndrome mutations that have been performed in vitro, highlighting the interpretative difficulties and the possible use of these data in the clinical practice.
The effects of stiripentol on GABAA receptors
Authors: Fisher Janet L. 
Published: April 2011

SummaryThe anticonvulsant stiripentol (Diacomit™) has been shown to have a positive impact on control of seizures for many patients with Dravet syndrome. As with most antiepileptic drugs, stiripentol has multiple mechanisms of action. Its direct anticonvulsant activity is likely due to enhancement of inhibitory, γ‐aminobutyric acid (GABA)ergic neurotransmission. Stiripentol was shown to increase the activity of both neuronal and recombinant GABAA receptors at clinically relevant concentrations. At recombinant receptors, stiripentol was found to act through a unique site in a subunit‐dependent manner. Positive modulation by stiripentol was most effective at GABAA receptors containing an α3 subunit. The expression of the α3 subunit is developmentally regulated, with highest levels in the immature brain. This subunit selectivity may explain the greater clinical efficacy of stiripentol in childhood‐onset epilepsies, including Dravet syndrome.
Comprehensive care of children with Dravet syndrome
Authors: Granata Tiziana 
Published: April 2011

SummaryThe comprehensive care of a patient with Dravet syndrome encompasses both the “care” and the “cure” of the patient, and requires cooperation among family, doctors, and several other specialized caregivers to search for the attainment of the best quality of life for the patients and their families. Several issues peculiar to the disease to be faced while dealing with the patient are: (1) SMEI is an “evolving” disease that appears in an otherwise healthy child with symptoms that appear and mutate throughout the course of the disease; (2) the severity of the disease is not fully predictable at onset and appears to be individual‐specific; (3) the seizures are invariably drug resistant and seizure freedom is not a realistic goal; and (4) in addition to seizures many other invalidating clinical problems, including cognitive impairment, behavior disorders, and a number of comorbidities characterize the disease course. The comprehensive caring must be physician‐guided and patient‐centered and implies a multidisciplinary approach to be built around the children and caregivers, who need to be guided through the steps of the diagnosis, treatments, and managements of the various comorbidities.
Dravet syndrome and parent associations: The IDEA League experience with comorbid conditions, mortality, management, adaptation, and grief
Authors: Skluzacek Joan V. , Watts Kathryn P. , Parsy Olivier , Wical Beverly , Camfield Peter 
Published: April 2011

SummaryThe advent of social networking via the Internet and the commercial availability of tests for SCN1A mutations permitted the rapid development and growth of parent‐led associations that provide advocacy and support, as well as promote education and research regarding Dravet syndrome (DS) in the last 10 years. The International Dravet syndrome Epilepsy Action League (IDEA League) is a partnership of parents and professionals united in the purpose of creating greater awareness and understanding of DS. In 2004, parents in the IDEA League support network began to collect data from families about their children with DS in order to investigate observations that, in addition to epilepsy, many of the children seemed to share similar problems. The information gained suggests comorbid conditions and raises many hypotheses for further research. The process has led to more rigorous formal studies and an increased understanding of the clinical spectrum of DS. There is an urgent need for collaborative research, comprehensive care, and professional and family education. Mortality appears high, primarily due to sudden unexplained death in epilepsy (SUDEP) and status epilepticus (SE). Most parents wish direct discussions with their child’s physician about mortality. The high risk of death and the many other stresses related to DS result in recurrent grief and loss for patients and families and highlights their need for additional advocacy and support.
Retrieval of a Fractured Zirconia Implant Abutment Using a Modified Crown and Bridge Remover: A Clinical Report
Authors: Roe Phillip , Kan Joseph Y. K. , Rungcharassaeng Kitichai , Won John B. 
Published: April 2011

AbstractThis clinical report describes a novel method to retrieve the internal connection of a fractured zirconia abutment through modification of a crown and bridge remover. Furthermore, the strengths and limitations of using a zirconia implant abutment will be highlighted.
Effect of oxygen plasma immersion ion implantation treatment on corrosion resistance and cell adhesion of titanium surface
Authors: Yang Chih‐Hsiung , Wang Yu‐Tsai , Tsai Wen‐Fa , Ai Chi‐Fong , Lin Mau‐Chin , Huang Her‐Hsiung 
Published: April 2011

AbstractObjective: The study was to investigate the corrosion resistance and cell adhesion of titanium (Ti) surface for dental implant application by oxygen plasma immersion ion implantation (O‐PIII) treatments.Materials and methods: Commercially pure Ti discs (grade 2) were used as the substrate. O‐PIII surface treatments, with different oxygen doses (1 × 1016 and 4 × 1016 ions/cm2), were performed in a high‐vacuum chamber with a radio frequency plasma source. Atomic force microscope, X‐ray photoelectron spectrometer and nanoindenter were used to analyze surface topography, chemical composition (three samples per group) and mechanical property (twenty‐five samples per group) of Ti specimens, respectively. Corrosion resistance of Ti specimens (five samples per group) was evaluated by potentiodynamic polarization curve measurement in simulated blood plasma solution. The adhesion and spreading of human bone marrow mesenchymal stem cells (hMSCs) on Ti surfaces were studied.Results: The results showed that O‐PIII treatment had no significant influence on the surface topography of Ti specimens. The thickness of oxide layer (mainly as TiO2) on the O‐PIII‐treated Ti specimens increased with an increase in oxygen dose implanted. The O‐PIII‐treated Ti specimens possessed higher surface hardness and Young's modulus than the untreated Ti specimen. Potentiodynamic polarization tests revealed that the O‐PIII‐treated Ti surfaces had lower corrosion rate (Icorr) and passive current (Ipass) than the untreated Ti surface. The adhesion and spreading of hMSCs on Ti surfaces were improved by O‐PIII treatment.Conclusions: O‐PIII treatment could enhance the corrosion resistance and cell adhesion of Ti surface for dental implant application due to the increase in surface thickness of Ti‐oxides (mainly as TiO2) on Ti.To cite this article:
Yang C‐H, Wang Y‐T, Tsai W‐F, Ai C‐F, Lin M‐C, Huang H‐H. Effect of oxygen plasma immersion ion implantation treatment on corrosion resistance and cell adhesion of titanium surface. Clin. Oral Impl. Res. xx, 2011; 000–000. doi: 10.1111/j.1600‐0501.2010.02132.x
Blood responses to titanium surface with TiO2 nano‐mesh structure
Authors: Huang Her‐Hsiung , Chen Jing‐Yi , Lin Mau‐Chin , Wang Yu‐Tsai , Lee Tien‐Lin , Chen Li‐Kai 
Published: April 2011

Abstract
Objectives: The goal of this study was to enhance the blood responses to titanium (Ti) surfaces used for dental implant application through the formation of a TiO2 nano‐mesh surface layer produced by a fast electrochemical anodization treatment.
Material and methods: Electrochemical anodization treatments with different anodization currents and temperatures in an alkaline solution were used to create a nano‐mesh oxide layer on polished Ti surface. Surface characterizations of the mesh structure were carried out using thin‐film X‐ray diffractometer, field‐emission scanning electron microscope, and atomic force microscope. The blood responses, including the blood‐clotting ability and platelet adhesion morphology, to the test Ti surfaces were evaluated. The blood‐clotting ability, in terms of optical density of blood, was statistically analyzed using a nonparametric method, Kruskal–Wallis test, for the factor of anodization treatment.
Results: A multilayer TiO2 nano‐mesh structure was rapidly formed on the polished Ti surface using a simple electrochemical anodization treatment in an alkaline solution. The TiO2 nano‐mesh had an average mesh size between 34 and 93 nm, depending on the anodization current and temperature. The features on the TiO2 nano‐mesh structure on the anodized Ti surface were of a similar size scale as blood proteins, giving the material better blood clot ability (P<0.05) and improved platelet activation and aggregation as compared with an untreated polished Ti surface.
Conclusions: The formation of TiO2 nano‐mesh on the Ti surfaces was shown to enhance blood responses, which we expect to promote cell growth in the application of dental implants.
To cite this article: Huang H‐H, Chen J‐Y, Lin M‐C, Wang Y‐T, Lee T‐L, Chen L‐K. Blood responses to titanium surface with TiO2 nano‐mesh structure. Clin. Oral Impl. Res. 23, 2012; 379–383. doi: 10.1111/j.1600‐0501.2010.02152.x
Relationship between heart rate variability and the severity of psychotic symptoms in schizophrenia
Authors: Kim Jong-Hoon , Ann Jun-Hyung , Lee Jinyoung 
Published: April 2011

Kim J-H, Ann J-H, Lee J. Relationship between heart rate variability and the severity of psychotic symptoms in schizophrenia.Objective: The relationship between autonomic neurocardiac function and schizophrenia remains elusive. This study investigated the relationship between the heart rate variability (HRV) parameters and the severity of psychotic symptoms in schizophrenic patients.Methods: Twenty-one patients receiving risperidone monotherapy and 21 matched normal control subjects were evaluated for HRV analysis. The severity of schizophrenic symptoms was assessed using the Positive and Negative Syndrome Scale (PANSS) and a five-factor model of the PANSS was used.Results: The value of the ratio of low-to-high frequency spectral power was significantly higher in the patient group. The patient group also showed a significantly lower value of approximate entropy. After controlling the dosage of risperidone, the PANSS total score had significant negative correlations with the standard deviation of all RR intervals (SDNN) and the square root of the mean squared differences of successive normal sinus intervals (RMSSD). With respect to the PANSS factors, the score of the PANSS cognitive/disorganisation factor had significant negative correlations with SDNN and RMSSD.Conclusion: These results provide some evidence that the severity of psychotic symptoms, especially cognitive/disorganisation symptom dimensions, may be associated with reduced HRV, suggesting a potential involvement of neuroautonomic dysfunction in the pathophysiology of specific symptoms of schizophrenia.
Escitalopram oxalate, a selective serotonin reuptake inhibitor, exhibits cytotoxic and apoptotic effects in glioma C6 cells
Authors: Dikmen Miriş , Cantürk Zerrin , Öztürk Yusuf 
Published: April 2011

Dikmen M, Cantürk Z, Öztürk Y. Escitalopram oxalate, a selective serotonin reuptake inhibitor, exhibits cytotoxic and apoptotic effects in glioma C6 cells.Objective: Various antidepressants, mainly tricyclic antidepressants (TCAs) and selective serotonin reuptake inhibitors (SSRIs), have been reported to exhibit potent anticancer properties in different cancer cells. In this study, we evaluated the antiproliferative and apoptotic effects of escitalopram oxalate (25, 50, 100 and 200 µM) on rat C6 glioma cells.Methods: Cell proliferations were measured by [3-(4,5-dimethylthiazol-2-yl)-2-5-diphenyltetrazolium bromide] (MTT) assay, apoptosis was observed by flow cytometric analysis on C6 cells.Results: Significant decreases in the proliferation of C6 glioma cells were detected depending on increases in the escitalopram concentrations and incubation periods. When compared to controls, C6 cell proliferations after 24 h incubation were determined with 97.7, 85.9, 74.5 and 67.9% for 25, 50, 100 and 200 µM escitalopram, respectively, while the cell proliferations after 48 h were established as 96.5, 68.0, 50.7 and 39.9% for 25, 50, 100 and 200 µM concentrations, respectively. IC50 value of escitalopram was able to be calculated as 106.97 µM after 48 h. Based on Annexin V-propidium iodide (PI) binding capacity for 25, 50, 100 and 200 µM escitalopram, apoptotic effects were determined as 17.0, 22.3, 12.5 and 7.8%, respectively.Conclusion: Based on our findings, escitalopram oxalate was observed to induce cytotoxic and apoptotic activities in C6 cells.
Foreign accent syndrome caused by a left temporal–parietal ischaemic stroke
Authors: Karanasios Panagiotis , Loukopoulou Paraskevi , Zampakis Petros , Tiligadas Thomas , Makridou Alexandra , Doukas Vassilios , Argyriou Andreas A. 
Published: April 2011

Karanasios P, Loukopoulou P, Zampakis P, Tiligadas T, Makridou A, Doukas V, Argyriou AA. Foreign accent syndrome caused by a left temporal–parietal ischaemic stroke.Aim: We present the first reported case of a Greek patient with foreign accent syndrome (FAS) secondary to a left temporal-parietal ischemic stroke.Case report: A 76 year-old right-handed, Greek in origin, male was referred because he had suddenly manifested changes in speech expression. The neurological examination revealed that his prior typical English-Australian accent resembled a mixture of Greek and English-Britain accent consistent with FAS, though he had visited only once Greece the last 15 years and never had been to United Kingdom.Results: A brain Magnetic Resonance Imaging scan depicted an ischemic temporal lesion in the language-dominant left hemisphere, affecting the left posterior superior and middle temporal gyri, as well as the ipsilateral inferior supramarginal angular gyrus and posterior insula.Conclusion: We might suggest that FAS in our patient was induced because of interrupted cortical-subcortical feedback pathways. The phenomenon of subcortical-cortical diaschisis might also have contributed to its clinical manifestation.
Low-dose clozapine monotherapy for recurring episodes of depression, hypersomnia and behavioural disturbances: a case report
Authors: Havaki-Kontaxaki Beata J. , Ferentinos Panagiotis P. , Kontaxakis Vassilis P. , Kontaxaki Maria-Irini V. , Geronikola Xenia , Armeniakos Ioannis , Papadimitriou George N. 
Published: April 2011

Havaki-Kontaxaki BJ, Ferentinos PP, Kontaxakis VP, Kontaxaki M-I V, Geronikola X, Armeniakos I, Papadimitriou GN. Low-dose clozapine monotherapy for recurring episodes of depression, hypersomnia and behavioural disturbances: a case report.Case Report: We present a 27-year-old woman who manifested recurrent episodes of hypersomnia, compulsive hyperphagia, hypersexuality, impulsive behaviours, irritability and depressive mood since the age of 13 after a viral febrile infection. She had 3–4 episodes/year lasting from a few days to 2–3 weeks which were managed with various psychotropics. During her last episode, she was admitted because of persistent behavioural disturbances. Brain 99m-Tc-ethyl cysteinate dimer single-photon emission computed tomography scans showed bilateral mesiotemporal and thalamic hypoperfusion, more significant in the right hemisphere. While hospitalised, she developed neuroleptic malignant syndrome following haloperidol administration. She was discharged on clozapine 100 mg/day. Over the following 30 months, she remained symptom free on clozapine 50–100 mg/day.Discussion: Differential diagnosis included either an atypical recurrent mood disorder with hypersomnia and behavioural disturbances or Kleine–Levin syndrome.Conclusion: Low-dose clozapine monotherapy may worth being further investigated for the management of recurring episodes of depression, hypersomnia and behavioural disturbances.