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OBJECTIVE: Memory deficits are frequent among patients with epilepsies affecting the temporal lobe. Hippocampal interictal epileptic discharges (hIEDs), the presumed epileptic exaggeration of sharp wave-ripples (SWRs), are known to contribute to memory dysfunction, but the potential underlying mechanism is unknown. The precise temporal coordination between hippocampal SWRs and corticothalamic spindles during sleep is critical for memory consolidation. Moreover, previous investigation indicated that hIEDs induce neocortical spindlelike oscillation. In the present study, we aimed to assess the influence of hIEDs on neocortical spindles. METHODS: We analyzed the spindle characteristics (duration, amplitude, frequency) of 21 epilepsy patients implanted with foramen ovale (FO) electrodes during a whole night sleep. Scalp sleep spindles were categorized based on their temporal relationship to hIEDs detected on the FO electrodes. Three groups were created: (1) spindles coinciding with hIEDs, (2) spindles "induced" by hIEDs, and (3) spindles without hIED co-occurrence. RESULTS: We found that spindles co-occurring with hIEDs had altered characteristics in all measured properties, lasted longer by 126 ± 48 ms (mean ± SD), and had higher amplitude by 3.4 ± 3.2 µV, and their frequency range shifted toward the higher frequencies within the 13-15-Hz range. Also, hIED-induced spindles had identical oscillatory properties to spindles without any temporal relationships with hIEDs. In more than half of our subjects, clear temporal coherence was revealed between hIEDs and spindles, but the direction of the coupling was patient-specific. SIGNIFICANCE: We investigated the effect of hippocampal IEDs on neocortical spindle activity and found spindle alterations in cases of spindle-hIED co-occurrence, but not in cases of hIED-initiated spindles. We propose that this is a marker of a pathologic process, where IEDs may have direct effect on spindle generation. It could mark a potential mechanism whereby IEDs disrupt memory processes, and also provide a potential therapeutic target to treat memory disturbances in epilepsy.
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Epilepsia , Epilepsia/complicações , Hipocampo , Humanos , Transtornos da Memória , Sono , Lobo TemporalRESUMO
In this article, we review recent first principles, anharmonic studies on the molecular vibrations of gaseous formic acid in its monomer form. Transitions identified as fundamentals for both cis- and trans form reported in these studies are collected and supported by results from high-resolution experiments. Attention is given to the effect of coordinate coupling on the convergence of the computed vibrational states.
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Formiatos , Vibração , GasesRESUMO
BACKGROUND: When MRI fails to detect a potentially epileptogenic lesion, the chance of a favorable outcome after epilepsy surgery becomes significantly lower (from 60 to 90% to 20-65%). Hybrid FDG-PET/MRI may provide additional information for identifying the epileptogenic zone. We aimed to investigate the possible effect of the introduction of hybrid FDG-PET/MRI into the algorithm of the decision-making in both lesional and non-lesional drug-resistant epileptic patients. METHODS: In a prospective study of patients suffering from drug-resistant focal epilepsy, 30 nonlesional and 30 lesional cases with discordant presurgical results were evaluated using hybrid FDG-PET/MRI. RESULTS: The hybrid imaging revealed morphological lesion in 18 patients and glucose hypometabolism in 29 patients within the nonlesional group. In the MRI positive group, 4 patients were found to be nonlesional, and in 9 patients at least one more epileptogenic lesion was discovered, while in another 17 cases the original lesion was confirmed by means of hybrid FDG-PET/MRI. As to the therapeutic decision-making, these results helped to indicate resective surgery instead of intracranial EEG (iEEG) monitoring in 2 cases, to avoid any further invasive diagnostic procedures in 7 patients, and to refer 21 patients for iEEG in the nonlesional group. Hybrid FDG-PET/MRI has also significantly changed the original therapeutic plans in the lesional group. Prior to the hybrid imaging, a resective surgery was considered in 3 patients, and iEEG was planned in 27 patients. However, 3 patients became eligible for resective surgery, 6 patients proved to be inoperable instead of iEEG, and 18 cases remained candidates for iEEG due to the hybrid FDG-PET/MRI. Two patients remained candidates for resective surgery and one patient became not eligible for any further invasive intervention. CONCLUSIONS: The results of hybrid FDG-PET/MRI significantly altered the original plans in 19 of 60 cases. The introduction of hybrid FDG-PET/MRI into the presurgical evaluation process had a potential modifying effect on clinical decision-making. TRIAL REGISTRATION: Trial registry: Scientific Research Ethics Committee of the Medical Research Council of Hungary. TRIAL REGISTRATION NUMBER: 008899/2016/OTIG . Date of registration: 08 February 2016.
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Epilepsia , Preparações Farmacêuticas , Eletroencefalografia , Fluordesoxiglucose F18 , Humanos , Imageamento por Ressonância Magnética , Tomografia por Emissão de Pósitrons , Estudos ProspectivosRESUMO
BACKGROUND: In cases undergoing epilepsy surgery, postoperative psychogenic nonepileptic seizures (PNES) may be underdiagnosed complicating the assessment of postsurgical seizures' outcome and the clinical management. We conducted a survey to investigate the current practices in the European epilepsy monitoring units (EMUs) and the data that EMUs could provide to retrospectively detect cases with postoperative PNES and to assess the feasibility of a subsequent postoperative PNES research project for cases with postoperative PNES. METHODS: We developed and distributed a questionnaire survey to 57 EMUs. Questions addressed the number of patients undergoing epilepsy surgery, the performance of systematic preoperative and postoperative psychiatric evaluation, the recording of sexual or other abuse, the follow-up period of patients undergoing epilepsy surgery, the performance of video-electroencephalogram (EEG) and postoperative psychiatric assessment in suspected postoperative cases with PNES, the existence of electronic databases to allow extraction of cases with postoperative PNES, the data that these bases could provide, and EMUs' interest to participate in a retrospective postoperative PNES project. RESULTS: Twenty EMUs completed the questionnaire sheet. The number of patients operated every year/per center is 26.7 (⯱â¯19.1), and systematic preoperative and postoperative psychiatric evaluation is performed in 75% and 50% of the EMUs accordingly. Sexual or other abuse is systematically recorded in one-third of the centers, and the mean follow-up period after epilepsy surgery is 10.5⯱â¯7.5â¯years. In suspected postoperative PNES, video-EEG is performed in 85% and psychiatric assessment in 95% of the centers. An electronic database to allow extraction of patients with PNES after epilepsy surgery is used in 75% of the EMUs, and all EMUs that sent the sheet completed expressed their interest to participate in a retrospective postoperative PNES project. CONCLUSION: Postoperative PNES is an underestimated and not well-studied entity. This is a European survey to assess the type of data that the EMUs surgical cohorts could provide to retrospectively detect postoperative PNES. In cases with suspected PNES, most EMUs perform video-EEG and psychiatric assessment, and most EMUs use an electronic database to allow extraction of patients developing PNES.
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Epilepsia , Convulsões , Eletroencefalografia , Epilepsia/diagnóstico , Epilepsia/cirurgia , Humanos , Estudos Retrospectivos , Convulsões/diagnóstico , Inquéritos e QuestionáriosRESUMO
Lamotrigine, a frequently used antiepileptic drug, inhibits voltage-gated sodium-channels. By suppressing the release of glutamate and aspartate, lamotrigine acts as a membrane stabilizer, and it is also effective in bipolar disorder and migraine. However, lamotrigine is known to induce tremor among 4-10% of patients. We examined the lamotrigine-induced tremor in 28 epilepsy patients (age: 38.06 ± 13.56 years; 24 females and 4 males) receiving lamotrigine monotherapy and compared the data to 30 age- and sex-matched controls (age: 33.06 ± 10.71 years; 25 females and 5 males). Tremor was visually assessed by clinical tremor rating scales. Quantitative characteristics (intensity, center frequency and frequency dispersion) which are regularly used to differentiate various tremor syndromes were measured by validated, sensitive biaxial accelerometry in resting, postural and intentional positions. Regularity of repetitive finger and hand movements and reaction time were also determined. Data were statistically analyzed. Clinical tremor rating scales detected pathological tremor in three patients (10%), while accelerometry revealed tremor in seven patients (25%). Center frequency of patients with pathological tremor was similar to controls, but the frequency dispersion was significantly lower and tremor intensity was significantly higher in both postural and intentional positions. Rhythmic movements and reaction time were normal. Our results show that objective measurements detect pathological intention tremor in 25% of epilepsy patients receiving lamotrigine monotherapy. Quantitative characteristics suggest the involvement of the cerebellum in the pathomechanism of lamotrigine-induced tremor. Determining the parameters of drug-induced tremor syndromes might help to understand the complex action of tremor generator networks.
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Cerebelo/patologia , Epilepsia/tratamento farmacológico , Lamotrigina/efeitos adversos , Lamotrigina/uso terapêutico , Tremor/induzido quimicamente , Adulto , Estudos de Casos e Controles , Cerebelo/efeitos dos fármacos , Epilepsia/sangue , Feminino , Humanos , Lamotrigina/sangue , Modelos Logísticos , Masculino , Tremor/sangueRESUMO
We present a new polymorph of the two-dimensional (2D) silica film with a characteristic 'zigzag' line structure and a rectangular unit cell which forms on a Ru(0001) metal substrate. This new silica polymorph may allow for important insights into growth modes and transformations of 2D silica films as a model system for the study of glass transitions. Based on scanning tunneling microscopy, low energy electron diffraction, infrared reflection absorption spectroscopy, and X-ray photoelectron spectroscopy measurements on the one hand, and density functional theory calculations on the other, a structural model for the 'zigzag' polymorph is proposed. In comparison to established monolayer and bilayer silica, this 'zigzag' structure system has intermediate characteristics in terms of coupling to the substrate and stoichiometry. The silica 'zigzag' phase is transformed upon reoxidation at higher annealing temperature into a SiO2 silica bilayer film which is chemically decoupled from the substrate.
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BACKGROUND AND PURPOSE: Psychosocial condition and life quality of epileptic patients are greatly determined by the existence of the disease-related comorbid disorders, like depression, anxiety, and the subjective disease perception, as well as the neuropsychological consequences of the seizures.It has been examined in patients living with epilepsy how subjective disease perception and coping strategies influence life quality, comorbid depression and the condition of anxiety. METHODS: Study patients were asked to fill in a self-completion questionnaire, which examined their psychosocial condition (HADS, Beck Depression Scale), life quality (Qolie-31), coping strategies (FKV-LIS), and subjective disease perception (IPQ-R), as well as sociodemographic and disease variables. The subjects of the study: the data of epileptic patients between the age of 18 to 70 was recorded. Patients were selected from the adult outpatients of a national centre, a regional hospital and two private health care centres located in Budapest. RESULTS: Based on the multiple regression analysis. Beck's depression (b coefficient=-0.351, t=-4.703, p<0.001**). Depressive coping strategy (FKV Dep) (b coefficient = -0.235, t=-3.123, p=0.002**). Subjective health perception (b coefficient =0.232. t=3.643, p<0.001**). Sex (women; b coefficient =-0.162, t=-3.008, p=0.003**). IPQ consequences (b coefficient =-0.161, t=-2.572, p=0.012*). Active coping strategy (FKV Act; b coefficient =0.146, t=2.572, p=0.012*). Type of seizure (b coefficient =-0.138, t=-2.527, p=0.013*), and Sleep quality (b coefficient =-0.125, t=-1.995, p=0.049) explain some 75.6% of the variance of life quality's total score (model3: F=33.333, p<0.001**. adjusted R2=0.733). CONCLUSION: Among the factors of the subjective disease perception (IPQ-R), the physical, mental and social consequences play the most important role. Similarly, the impact of negative emotional representation, as well as the erratic nature of the seizures are decisive. Emotional representation, cyclicity and disease coherence have an important role in coping with disease-related negative emotions.
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Adaptação Psicológica , Epilepsia/psicologia , Conhecimentos, Atitudes e Prática em Saúde , Qualidade de Vida , Autoimagem , Adolescente , Adulto , Idoso , Depressão , Emoções , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise de Regressão , Autorrelato , Fatores Sexuais , Sono , Adulto JovemRESUMO
We explored the current practice with respect to the neuropsychological assessment of surgical epilepsy patients in European epilepsy centers, with the aim of harmonizing and establishing common standards. Twenty-six epilepsy centers and members of "E-PILEPSY" (a European pilot network of reference centers in refractory epilepsy and epilepsy surgery), were asked to report the status of neuropsychological assessment in adults and children via two different surveys. There was a consensus among these centers regarding the role of neuropsychology in the presurgical workup. Strong agreement was found on indications (localization, epileptic dysfunctions, adverse drugs effects, and postoperative monitoring) and the domains to be evaluated (memory, attention, executive functions, language, visuospatial skills, intelligence, depression, anxiety, and quality of life). Although 186 different tests are in use throughout these European centers, a core group of tests reflecting a moderate level of agreement could be discerned. Variability exists with regard to indications, protocols, and paradigms for the assessment of hemispheric language dominance. For the tests in use, little published evidence of clinical validity in epilepsy was provided. Participants in the survey reported a need for improvement concerning the validity of the tests, tools for the assessment of everyday functioning and accelerated forgetting, national norms, and test co-normalization. Based on the present survey, we documented a consensus regarding the indications and principles of neuropsychological testing. Despite the variety of tests in use, the survey indicated that there may be a core set of tests chosen based on experience, as well as on published evidence. By combining these findings with the results of an ongoing systematic literature review, we aim for a battery that can be recommended for the use across epilepsy surgical centers in Europe.
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Transtornos Cognitivos , Epilepsia/cirurgia , Testes Neuropsicológicos/normas , Transtornos Cognitivos/diagnóstico , Transtornos Cognitivos/epidemiologia , Transtornos Cognitivos/etiologia , Epilepsia/complicações , Epilepsia/epidemiologia , Europa (Continente)/epidemiologia , Pesquisas sobre Atenção à Saúde/estatística & dados numéricos , Humanos , Cooperação Internacional , NeuroimagemRESUMO
PURPOSE: We investigated the impact of 19 factors on life quality in Hungarian patients with epilepsy. Wellbeing was evaluated by several inventories to investigate the impact of factors in more detail. METHODS: A cross-sectional study was performed in 170 patients. Wellbeing was evaluated with the WHO-5 Well-being Index (WHOQOL-5), Diener Satisfaction with Life Scale (SwLS), and the Quality of Life in Epilepsy-31 Questionnaire (Qolie-31). We investigated their association with demographic characteristics, general health status, epilepsy, and its treatment. The impact of these factors on illness perception (Illness Perception Questionnaire, IPQ) was also studied. RESULTS: The four measures correlated highly significantly. In addition, the predictive power of factors was comparable with the four inventories as evaluated by Multiple Regression. Factors explained 52%, 41%, 63% and 46% in the variance of WHOQOL-5, SwLS, Qolie-31, and IPQ scores, respectively. However, associations with particular factors were instrument-specific. The WHOQOL-5 was associated with factors indicative of general health. SwLS scores were associated with health-related and several demographic factors. Neither showed associations with epilepsy-related factors. All four categories of factors were associated with Qolie-31 and IPQ scores. Factors had an additive impact on IPQ, but not on Qolie-31. SIGNIFICANCE: Our findings reveal interactions between the method of life quality assessment and the factors that are identified as influencing life quality. This appears to be the first study that analyses the factors that influence illness perception in epilepsy patients, and suggests that the IPQ may become a valuable tool in epilepsy research.
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Epilepsia/epidemiologia , Epilepsia/psicologia , Qualidade de Vida/psicologia , Inquéritos e Questionários/normas , Adolescente , Adulto , Idoso , Estudos Transversais , Epilepsia/diagnóstico , Feminino , Humanos , Hungria/epidemiologia , Masculino , Pessoa de Meia-Idade , Percepção , Distribuição Aleatória , Reprodutibilidade dos Testes , Adulto JovemRESUMO
Background/Aims/Objectives: To report the outcome of staged urethroplasty with buccal mucosa and vascularised scrotal flap after failed hypospadias surgery. METHODS: n = 35. INCLUSION CRITERIA: destroyed urethral plate, deficient local skin, fistula and penile deviation. Five out of 35 patients also had a secondary proximal stricture. Stage 1: excision of scarred tissue and fistulae, correction of the penile deviation through dorsal plication and the ventral placement and quilting of buccal graft. Stage 2: tubularisation of the neourethral plate; in 20 patients with deficient penile skin a vascularised scrotal flap was developed and transferred on the tubularised urethra. In 5 patients, the proximal stricture was repaired during a separate operation by using buccal graft, the distal urethra was marsupialised. The repair of the distal urethra was performed later as described above. RESULTS: Thirty-three patients are recurrence-free without further interventions; successful reoperation was done in 2 cases. COMPLICATIONS: 1 graft necrosis; 1 coronary fistula; 1 scrotal flap necrosis and 1 case of hematoma. CONCLUSIONS: Complicated strictures after multiple failed hypospadias repair are well managed by using buccal graft. The vascularised scrotal flap is a very useful tool in case of deficient and scarred penile skin and could explain the low rate of fistula formation in our series.
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Hipospadia/cirurgia , Mucosa Bucal/transplante , Pênis/cirurgia , Escroto/irrigação sanguínea , Escroto/cirurgia , Retalhos Cirúrgicos/irrigação sanguínea , Uretra/cirurgia , Estreitamento Uretral/cirurgia , Fístula Urinária/cirurgia , Procedimentos Cirúrgicos Urológicos Masculinos/efeitos adversos , Adolescente , Adulto , Criança , Intervalo Livre de Doença , Humanos , Hipospadia/diagnóstico , Masculino , Pessoa de Meia-Idade , Pênis/patologia , Complicações Pós-Operatórias/etiologia , Estudos Prospectivos , Recidiva , Reoperação , Retalhos Cirúrgicos/efeitos adversos , Fatores de Tempo , Falha de Tratamento , Uretra/diagnóstico por imagem , Estreitamento Uretral/diagnóstico por imagem , Estreitamento Uretral/etiologia , Fístula Urinária/diagnóstico por imagem , Fístula Urinária/etiologia , Adulto JovemRESUMO
We present a case of MRI negative SMA seizure with the seizure onset zone in the secondary leg area on the superior bank of the Sylvian fissure, localized with multiscale electro-clinical and neuroradiological examinations. The 34-year-old female patient's intractable epilepsy started at age 14. She had diffuse pain aura in her left leg followed by tonic posturing with fully preserved consciousness suggesting parieto-fronto-medial seizure propagation. Her daily nocturnal SMA seizures became drug-resistant. Multiple 3T MRI images and neuropsychological evaluations were normal. Interictal PET detected a right parietal and insular FDG hypometabolism. The seizure onset zone and the symptomatogenic zone were localized by invasive electrophysiology. The insular deep electrode showed the propagation of ictal activity with an onset in the secondary sensory leg area through the insula to the fronto-medial surface. Eighteen spontaneous seizures, electrical cortical stimulation and cortical mapping confirmed the designated area of the resection, which was later proved macroscopically abnormal during surgery. The histological and immunohistological workup confirmed focal cortical dysplasia (IIb type). Postoperative postprocessing morphometry of the preoperative MRI study confirmed the lesion in the right inferior parietal lobe. The patient remained seizure free after surgery for more than 4 years, and medication free for the last two years. Our results concluded that the insula has a "relay" or "node" function in the parieto-opercular-fronto-medial epileptic network. The insular functional connectivity predisposed frontal propagation of the epileptic activity in the connectome of her epilepsy. The three-way insular structural connectivity has determining function on the seizure propagation.
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Córtex Cerebral/fisiopatologia , Córtex Cerebral/cirurgia , Epilepsia Resistente a Medicamentos/fisiopatologia , Epilepsia Resistente a Medicamentos/cirurgia , Adulto , Córtex Cerebral/patologia , Epilepsia Resistente a Medicamentos/patologia , Feminino , Humanos , Malformações do Desenvolvimento Cortical/patologia , Malformações do Desenvolvimento Cortical/fisiopatologia , Malformações do Desenvolvimento Cortical/cirurgia , Vias Neurais/patologia , Vias Neurais/fisiopatologia , Vias Neurais/cirurgiaRESUMO
OBJECTIVE: In 2014 the European Union-funded E-PILEPSY project was launched to improve awareness of, and accessibility to, epilepsy surgery across Europe. We aimed to investigate the current use of neuroimaging, electromagnetic source localization, and imaging postprocessing procedures in participating centers. METHODS: A survey on the clinical use of imaging, electromagnetic source localization, and postprocessing methods in epilepsy surgery candidates was distributed among the 25 centers of the consortium. A descriptive analysis was performed, and results were compared to existing guidelines and recommendations. RESULTS: Response rate was 96%. Standard epilepsy magnetic resonance imaging (MRI) protocols are acquired at 3 Tesla by 15 centers and at 1.5 Tesla by 9 centers. Three centers perform 3T MRI only if indicated. Twenty-six different MRI sequences were reported. Six centers follow all guideline-recommended MRI sequences with the proposed slice orientation and slice thickness or voxel size. Additional sequences are used by 22 centers. MRI postprocessing methods are used in 16 centers. Interictal positron emission tomography (PET) is available in 22 centers; all using 18F-fluorodeoxyglucose (FDG). Seventeen centers perform PET postprocessing. Single-photon emission computed tomography (SPECT) is used by 19 centers, of which 15 perform postprocessing. Four centers perform neither PET nor SPECT in children. Seven centers apply magnetoencephalography (MEG) source localization, and nine apply electroencephalography (EEG) source localization. Fourteen combinations of inverse methods and volume conduction models are used. SIGNIFICANCE: We report a large variation in the presurgical diagnostic workup among epilepsy surgery centers across Europe. This diversity underscores the need for high-quality systematic reviews, evidence-based recommendations, and harmonization of available diagnostic presurgical methods.
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Epilepsia/diagnóstico por imagem , Epilepsia/fisiopatologia , Neuroimagem , Epilepsia/cirurgia , Europa (Continente)/epidemiologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador , Cooperação Internacional , Masculino , Neuroimagem/métodos , Neuroimagem/estatística & dados numéricos , Neuroimagem/tendências , Inquéritos e QuestionáriosRESUMO
Antiepileptic drugs can provoke and worsen seizures, what is called paradoxical effect. Paradoxical seizure worsening can occur as a nonspecific manifestation of drug intoxication in number of antiepileptic drugs. The other type is a specific type, when antiepileptic drugs with pure GABAergic and sodium channel blocker mechanism of action provoke myoclonic, absence and atonic seizures in specific epilepsy syndromes, mainly in idiopathic generalized epilepsies. Antiepileptic drug-induced exacerbation of seizures is a common, often unrecognized clinical problem, which can be avoided by a careful syndromic diagnosis and by using broad spectrum antiepileptic drugs.
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Anticonvulsivantes/efeitos adversos , Convulsivantes/efeitos adversos , Convulsões/induzido quimicamente , Anticonvulsivantes/administração & dosagem , GABAérgicos/efeitos adversos , Humanos , Bloqueadores dos Canais de Sódio/efeitos adversosRESUMO
We present two patients with partial epilepsy, type-1 diabetes and stiff person syndrome associated with high serum auto-antibody levels to glutamate-decarboxylase (anti-GAD). Both patients were or have suffered from additional autoimmune conditions. The presence of stiff person syndrome and elevated anti-GAD levels have to make clinicians look for additional autoimmune conditions including type-1 diabetes. On the other hand, the co-morbidity of partial epilepsy with autoimmune conditions in patients with elevated serum anti-GAD suggests an autoimmune mechanism of partial epilepsy in these cases.
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Autoanticorpos/sangue , Diabetes Mellitus Tipo 1/imunologia , Epilepsia/imunologia , Glutamato Descarboxilase/imunologia , Rigidez Muscular Espasmódica/imunologia , Idoso , Diabetes Mellitus Tipo 1/enzimologia , Epilepsia/enzimologia , Feminino , Humanos , Pessoa de Meia-Idade , Rigidez Muscular Espasmódica/enzimologiaRESUMO
Anterior thalamus (ANT) deep-brain stimulation (DBS) is an approved therapy for drug resistant epilepsy. We aimed to identify interictal epileptiform discharges (IED) in the ANT and to investigate their relationship with surface IEDs. Fifteen patients were monitored for two consecutive nights with externalized thalamic leads to analyze the intrathalamic epileptiform activities (TIED). Forty-six % of all contacts were located within the ANT. We found that all the responders had TIEDs within the ANT, while this held true only for 44% of the non-responders. The overall response rate (RR) at 1-year follow-up was 40%, while it was 44% in bilateral ANT hit patients and 45% in epileptic focus side hit. However, in case of TIEDs present in the focus side the RR reached as high as 71%. TIED activity may prove the pathophysiological connection to the seizure focus, and stimulation of this area might have a better suppressing effect on seizures.
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OBJECTIVE: PCDH19-related epilepsy occurs predominantly in girls and is caused by pathogenic variant of the protocadherin-19 gene. The initial seizures usually develop in association with fever, begin on average at 15 months of age, and often occur in clusters. Autistic symptoms, intellectual disability, and sleep disturbance are often associated. METHODS: In our retrospective, multicenter study, we reviewed clinical data of nine children with epilepsy genetically confirmed to be associated with PCDH19. RESULTS: In the Hungarian patient population aged 0-18 years, the prevalence of PCDH19-related epilepsy was found to be lower (1/100000 live births in females) than the reported international data (4-5/100000 live births in females). Four of our nine patients had positive family history of epilepsy (cousins, sister, and mother). We assessed brain anomalies in three patients (in one patient focal cortical dysplasia and left anterior cingulate dysgenesis, and in two children right or left hippocampal sclerosis) and in another three cases incidentally identified benign alterations on brain MRI were found. The first seizure presented as a cluster in seven out of nine children. In seven out of nine cases occurred status epilepticus. Six out of nine children had autistic symptoms and only one child had normal intellectual development. Seven of our patients were seizure free with combined antiseizure medication (ASM). The most effective ASMs were levetiracetam, valproate, and clobazam. SIGNIFICANCE: The prevalence of PCDH19-related epilepsy is presumably underestimated because of the lack of widely performed molecular genetic evaluations. Molecular genetic testing including PCDH19 pathogenic variants is recommended for female patients with an onset of seizures before the age of 3 years.
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Caderinas , Epilepsia , Protocaderinas , Humanos , Feminino , Estudos Retrospectivos , Criança , Masculino , Pré-Escolar , Epilepsia/genética , Epilepsia/fisiopatologia , Epilepsia/epidemiologia , Epilepsia/tratamento farmacológico , Adolescente , Hungria/epidemiologia , Lactente , Caderinas/genética , Recém-NascidoRESUMO
INTRODUCTION: For people living with cerebral palsy, it is crucial to determine and monitor their quality of life because it indirectly can predict the completion of their needs and wishes, and their health-related conditions can be subjectively judged. Cerebral palsy is one of the the most common causes of childhood-onset, probably this is the reason why most quality of life studies focus on children and not on adolescents or adults. OBJECTIVES: The aims of this study were to explore the quality of life of teenagers living with cerebral palsy receiving conductive education provided by the Peto András Faculty of Semmelweis University, and to map the differences and similarities between the perceptions of parents and their adolescent children. METHOD: This is a descriptive, cross-sectional study. We used the CP QoL-Teen quality of life questionnaire for adolescents living with cerebral palsy. 60 adolescents who were diagnosed with cerebral palsy and receive conductive education took part in the research together with their parents. The caregivers answered the proxy version of the CP QoL Teen questionnaire. RESULTS: In the population we examined, there is no significant difference between the answers given by parents and teenagers. The highest agreement was found in the chapter of social wellbeing (p = 0.982). CONCLUSIONS: This study highlights the importance of social relationships in achieving a better quality of life for teenagers living with cerebral palsy. Furthermore, it also points out the high adaptability of the relationship between parents and their adolescent children. Orv Hetil. 2023; 164(24): 948-953.
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Paralisia Cerebral , Qualidade de Vida , Adulto , Criança , Humanos , Adolescente , Paralisia Cerebral/epidemiologia , Estudos Transversais , Inquéritos e Questionários , PaisRESUMO
We introduce DMRG[FEAST], a new method for optimizing excited-state many-body wave functions with the density matrix renormalization group (DMRG) algorithm. Our approach applies the FEAST algorithm, originally designed for large-scale diagonalization problems, to matrix product state wave functions. We show that DMRG[FEAST] enables the stable optimization of both low- and high-energy eigenstates, therefore overcoming the limitations of state-of-the-art excited-state DMRG algorithms. We demonstrate the reliability of DMRG[FEAST] by calculating anharmonic vibrational excitation energies of molecules with up to 30 fully coupled degrees of freedom.
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INTRODUCTION: Quality of life (QoL) is a concept that includes physical, psychological, social, spiritual, and other domains of functioning. Good QoL is a fundamental goal of treatment for Cerebral Palsy (CP), therefore it is an outstanding goal of Conductive Education (CE) as well. CE is a Hungarian method that combines special education and rehabilitation for people living with CP. OBJECTIVE: We aimed to compare the opinions and views about the life of teenagers from the perspective of adolescents and their caregivers from different socio-cultural backgrounds. METHOD: It was a descriptive, cross-sectional study. We used the Cerebral Palsy Quality of Life for the adolescent questionnaire (CP QoL -Teen) to measure QoL, which was translated into Hungarian and validated by Semmelweis University in 2017. Our study included 20 young adolescents (mean age 16) with CP and their caregivers living in Hungary (n1 = 40) and 20 Hungarian-speaking families (n2 = 40) from surrounding countries: Slovakia, Romania, and Ukraine (mean age 14.5). All the families are participating in CE. RESULTS: There was no significant divergence in the whole QoL score between the groups. Nonetheless, we found an outstanding difference in the Hungarian groups' 'Feelings about functioning' domain between teens and caregivers. A significant proportion of Hungarian teens-although living with greater pain-are less concerned about their illness (R = -0.754). 85% of responders study at segregated schools offering CE. CONCLUSION: The study shed new light on the importance of a personalized form of education and on the weight of the positive effects of segregated education. Personalized education can develop the patients' QoL.
Assuntos
Paralisia Cerebral , Terapia Ocupacional , Adolescente , Humanos , Qualidade de Vida , Estudos Transversais , FonoterapiaRESUMO
MRI is a cornerstone in presurgical evaluation of epilepsy. Despite guidelines, clinical practice varies. In light of the E-PILEPSY pilot reference network, we conducted a systematic review and meta-analysis on the diagnostic value of MRI in the presurgical evaluation of epilepsy patients. We included original research articles on diagnostic value of higher MRI field strength and guideline-recommended and additional MRI sequences in detecting an epileptogenic lesion in adult or paediatric epilepsy surgery candidates. Lesion detection rate was used as a metric in meta-analysis. Eighteen studies were included for MRI field strength and 25 for MRI sequences, none were free from bias. In patients with normal MRI at lower-field strength, 3T improved lesion detection rate by 18% and 7T by 23%. Field strengths higher than 1.5T did not have higher lesion detection rates in patients with hippocampal sclerosis (HS). The lesion detection rate of epilepsy-specific MRI protocols was 83% for temporal lobe epilepsy (TLE) patients. Dedicated MRI protocols and evaluation by an experienced epilepsy neuroradiologist increased lesion detection. For HS, 3DT1, T2, and FLAIR each had a lesion detection rate at around 90%. Apparent diffusion coefficient indices had a lateralizing value of 33% for TLE. DTI fractional anisotropy and mean diffusivity had a localizing value of 8% and 34%. A dedicated MRI protocol and expert evaluation benefits lesion detection rate in epilepsy surgery candidates. If patients remain MRI negative, imaging at higher-field strength may reveal lesions. In HS, apparent diffusion coefficient indices may aid lateralization and localization more than increasing field strength. DTI can add further diagnostic information. For other additional sequences, the quality and number of studies is insufficient to draw solid conclusions. Our findings may be used as evidence base for developing new high-quality MRI studies and clinical guidelines.