631 results on '"Feucht, M."'
Search Results
202. Buckling and postbuckling of thin elliptical anisotropic plates
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Heitzer, J., primary and Feucht, M., additional
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- 1993
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203. Long-term outcome and tolerability of the ketogenic diet in drug-resistant childhood epilepsy--the Austrian experience.
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Dressler A, Stöcklin B, Reithofer E, Benninger F, Freilinger M, Hauser E, Reiter-Fink E, Seidl R, Trimmel-Schwahofer P, and Feucht M
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- 2010
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204. Speech and school performance in children with benign partial epilepsy with centro-temporal spikes (BCECTS)
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Völkl-Kernstock S, Bauch-Prater S, Ponocny-Seliger E, and Feucht M
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- 2009
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205. Prion protein mutation in family first reported by Gerstmann, Sträussler, and Scheinker
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Kretzschmar, HansA., primary, Honold, Georg, additional, Seitelberger, Franz, additional, Feucht, M., additional, Wessely, P., additional, Mehraein, Parviz, additional, and Budka, Herbert, additional
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- 1991
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206. Erfahrungen mit Generika bei Epilepsiepatienten.
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Kr�mer, G., Steinhoff, B. J., Feucht, M., Pf�fflin, M., and May, T. W.
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- 2006
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207. Die Variabilit�t der Anzahl und tageszeitlichen Verteilung von Spike wave-Paroxysmen in zwei kurz aufeinanderfolgenden 24-Stunden-EEG-Langzeitableitungen.
- Author
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Mayr, N., Zeitlhofer, J., Feucht, M., and Deecke, L.
- Published
- 1989
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208. Glatiramer Acetate Treatment in Patients with Childhood and Juvenile Onset Multiple Sclerosis
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Kornek, B., Bernert, G., Balassy, C., Geldner, J., Prayer, D., and Feucht, M.
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- 2003
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209. Erstmanifestation einer Epilepsie bei einer 17-jährigen?
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Derhaschnig, U., Harrer, G., Feucht, M., Nather, A., Zeisler, H., Prayer, D., Hirschl, M. M., and Laggner, A. N.
- Abstract
Epileptic seizures are one of the most frequent neurologic emergencies of children or young adults. There are several causes for the manifestation of a generalized epileptic seizure in the young adult, like tumors, bleeding, trauma or infectious diseases of the central nervous system, disturbances in the electrolyte homeostatis, metabolic disorders, drug or alcohol abuse as well as sleep deprivation. In only 1% of the cases are the seizures caused by idiopathic epilepsy. We report the case of a seventeen year old female patient who was admitted to the emergency department after a first generalized tonic-clonic seizure. Severe headache occurred for two days that was successfully treated with analgetics. The general physical examination was normal despite adipositas, neurologic examination was also normal, as were laboratory tests and the cranial computed tomographic scan. The patient was treated with antiepileptic drugs under the assumption of idiopathic epilepsia. Despite therapy, a visual-field defect developed, followed by three generalized epileptic seizures during the next three hours. The patient underwent lumbar puncture as well as drug screening and estimation of the thyroid hormones; all were without pathologic results. A more detailed anamnesis and examination of the spot urine sample gave a hint for the cause of repeated seizures, which were finally caused by a severe general disease. Epileptische Anfälle gehören zu den häufigsten neurologischen Notfällen im Kindes- und Jugendalter. Nach erstmaligem Auftreten eines Krampfanfalls ist eine rasche Klärung der zugrundeliegenden Ursache in Hinblick auf eine möglichst frühe zielgerichtete Behandlung von großer Bedeutung. Als mögliche Ursachen kommen Raumforderungen, Blutungen oder Traumen, infektiöse Erkrankungen des Zentralnervensystems, Stoffwechselerkrankungen, Elektrolytentgleisungen, Drogen- oder Alkoholabusus sowie Schlafentzug in Frage. In nur etwa 1% sind die Anfälle Ausdruck einer Epilepsie. Wir berichten den Fall einer bis dato immer gesund gewesenen 17-jährigen, die wegen eines erstmals aufgetretenen, generalisierten tonisch-klonischen Anfalls an unserer Abteilung aufgenommen wurde. In der Anamnese fanden sich seit zwei Tagen bestehende starke Kopfschmerzen, die erfolgreich analgetisch behandelt wurden. Im klinisch physikalischen Status war eine Adipositas auffällig, im neurologischen Status, im Labor sowie in der craniellen Computertomographie zeigten sich keine pathologischen Befunde, sodass die Patientin primär unter der Verdachtsdiagnose einer idiopathischen Epilepsie mit Antiepileptika behandelt wurde. Unter Therapie kam es zu einer Gesichtsfeldeinschränkung und schließlich zu weiteren generalisierten Anfällen. Eine erweiterte Diagnostik mit Lumbalpunktion, Bestimmung der Schilddrüsenhormone und einem Drogenscreening blieb ebenfalls ohne pathologischen Befund. Schließlich lieferte eine gezielte Befragung und die Harnanalyse den entscheidenden Hinweis für die Ursache des Anfallgeschehens, welches nun doch als Symptom einer schweren Grunderkrankung zu werten war.
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- 2001
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210. Identification of the stimulated hemiretina in primary school children and adults based on left and right hemifield pattern reversal visual evoked potentials - a comparative study
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Hoffmann, K., Leistritz, L., Feucht, M., Benninger, F., Reiter, D., and Witte, H.
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- 2001
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211. Persistent lipsticks and their lip prints: new hidden evidence at the crime scene
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Segui, M. A., Feucht, M. M., Ponce, A. C., and Pascual, F. A.
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- 2000
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212. Prevention of Epilepsy in Infants with Tuberous Sclerosis Complex in the EPISTOP Trial
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Kotulska, Katarzyna, Kwiatkowski, David J., Curatolo, Paolo, Weschke, Bernhard, Riney, Kate, Jansen, Floor, Feucht, Martha, Krsek, Pavel, Nabbout, Rima, Jansen, Anna C., Wojdan, Konrad, Sijko, Kamil, Głowacka‐Walas, Jagoda, Borkowska, Julita, Sadowski, Krzysztof, Domańska‐Pakieła, Dorota, Moavero, Romina, Hertzberg, Christoph, Hulshof, Hanna, Scholl, Theresa, Benova, Barbora, Aronica, Eleonora, Ridder, Jessie, Lagae, Lieven, Jóźwiak, Sergiusz, Anink, J., Aronica, E., Benova, B., Benvenuto, A., Blazejczyk, M., Bongaerts, A., Borkowska, J., Breuillard, D., Chmielewski, D., Curatolo, P., Dabrowska, M., Domańska‐Pakieła, D., Feucht, M., Giannikou, K., Głowacka‐Walas, J., Hamieh, L., Harȩza, A., Hertzberg, Ch., Hulshof, H., Huschner, F., Iyer, A., Jansen, A., Jansen, F., Janssen, B., Jaworski, J., Jùźwiak, S., Kaczorowska‐Frontczak, M., Kotulska, K., Krsek, P., Kwiatkowski, D., Lagae, L., Lehmann, K., Leusman, A., Maćkowiak, N., Mills, J., Moavero, R., Muelebner, A., Nabbout, R., Ridder, J., Riney, K., Sadowski, K., Samueli, S., Scheldeman, C., Scholl, T., Sciuto, A., Sijko, K., Słowińska, M., Tempes, A., Scheppingen, J., Verhelle, B., Vervisch, J., Urbańska, M., Weschke, B., Wojdan, K., Pathology, ANS - Cellular & Molecular Mechanisms, Physiotherapy, Human Physiology and Anatomy, Pediatrics, Mental Health and Wellbeing research group, Public Health Sciences, and Neurogenetics
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0301 basic medicine ,Male ,Pediatrics ,Drug Resistant Epilepsy ,CHILDREN ,law.invention ,Epilepsy ,0302 clinical medicine ,Randomized controlled trial ,law ,Tuberous Sclerosis ,Clinical endpoint ,Medicine ,Mass Screening ,Research Articles ,RISK ,Electroencephalography ,Settore MED/39 ,Psychiatry and Mental health ,Neurology ,Tuberous Sclerosis Complex ,Anticonvulsants ,Female ,Infants ,Life Sciences & Biomedicine ,Spasms, Infantile ,Research Article ,medicine.drug ,medicine.medical_specialty ,Clinical Neurology ,Vigabatrin ,03 medical and health sciences ,Seizures ,Humans ,Pediatrics, Perinatology, and Child Health ,Mass screening ,Science & Technology ,business.industry ,Prevention ,Public Health, Environmental and Occupational Health ,Neurosciences ,Infant, Newborn ,Infant ,Odds ratio ,medicine.disease ,Clinical trial ,030104 developmental biology ,DEFINITION ,SEVERITY ,ONSET ,SEIZURES ,Neurology (clinical) ,Neurosciences & Neurology ,business ,EPISTOP trial ,030217 neurology & neurosurgery ,MENTAL-RETARDATION - Abstract
OBJECTIVE: Epilepsy develops in 70 to 90% of children with tuberous sclerosis complex (TSC) and is often resistant to medication. Recently, the concept of preventive antiepileptic treatment to modify the natural history of epilepsy has been proposed. EPISTOP was a clinical trial designed to compare preventive versus conventional antiepileptic treatment in TSC infants. METHODS: In this multicenter study, 94 infants with TSC without seizure history were followed with monthly video electroencephalography (EEG), and received vigabatrin either as conventional antiepileptic treatment, started after the first electrographic or clinical seizure, or preventively when epileptiform EEG activity before seizures was detected. At 6 sites, subjects were randomly allocated to treatment in a 1:1 ratio in a randomized controlled trial (RCT). At 4 sites, treatment allocation was fixed; this was denoted an open-label trial (OLT). Subjects were followed until 2 years of age. The primary endpoint was the time to first clinical seizure. RESULTS: In 54 subjects, epileptiform EEG abnormalities were identified before seizures. Twenty-seven were included in the RCT and 27 in the OLT. The time to the first clinical seizure was significantly longer with preventive than conventional treatment [RCT: 364 days (95% confidence interval [CI] = 223-535) vs 124 days (95% CI = 33-149); OLT: 426 days (95% CI = 258-628) vs 106 days (95% CI = 11-149)]. At 24 months, our pooled analysis showed preventive treatment reduced the risk of clinical seizures (odds ratio [OR] = 0.21, p = 0.032), drug-resistant epilepsy (OR = 0.23, p = 0.022), and infantile spasms (OR = 0, p
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213. How can we optimize the long-term outcome in children with intracranial cavernous malformations? A single-center experience of 61 cases
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Hirschmann, D., Cho, A., Roessler, K., Ciobanu, O., Peyrl, A., Feucht, M., Frischer, J.M., Czech, T., and Dorfer, C.
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- 2022
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214. Application of correlation dimension and pointwise dimension for non-linear topographical analysis of focal onset seizures
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Feucht, M., Möller, U., Witte, H., Benninger, F., Asenbaum, S., Prayer, D., and Friedrich, M.
- Abstract
Abstract: For many patients who are candidates for epilepsy surgery, non-invasive evaluation fails to provide sufficient information to permit surgical treatment. Since there are also definite risks and considerable costs associated with invasive procedures, new (non-invasive) techniques are required. This study provides empirical evidence that a non-linear approach applied to ictal surface electroencephalograms (EEGs) can help to delineate the area of seizure onset and may prove useful in complementing visual analysis of the EEG. Multichannel EEGs, recorded from eight patients with different drug-resistant localisation-related epilepsies, were analysed using the concept of correlation dimension and two extensions based on the pointwise dimension. The latter also provided results in cases where assessment of the correlation dimension was not feasible. Comparative values between 2 and 6 were accepted as the result of the algorithms, mostly 3–4 for the EEG channels strongly reflecting epileptic activity, and 4–6 for the other signals. The proportion of accepted pointwise values was usually 200–800% for strong epileptic EEG activity compared to the other data. The approach permitted the characterisation of the scalp area reflecting epileptic activity. The results obtained were in perfect concordance with those obtained during pre-surgical work-up and confirmed by the post-operative outcome.
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- 1999
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215. Possible association between childhood absence epilepsy and the gene encoding GABRB3 - consensus for diagnostic criteria
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Feucht, M., Fuchs, K., Pichlbauer, E., Hornik, K., Scharfetter, J., Goessler, R., Fureder, T., Cvetkovic, N., Sieghart, W., and Kasper, S.
- Published
- 1999
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216. Gehen epileptischen Spitzen langsame Potentialverschiebungen voraus? Negative Ergebnisse bei Kindern mit benigner rolandischer Epilepsie.
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Feucht, M., Spoljaric, A. M., Benninger, F., and Uhl, F.
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- 1996
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217. Influence of cartilage lesions in the lateral compartment on clinical outcome following medial open-wedge osteotomy.
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Hohloch, L., Kim, S., Mehl, J., Feucht, M., Niemeyer, P., Südkamp, N.P., and Bode, G.
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- 2017
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218. Long-term seizure outcome after resective temporal lobe surgery in a pediatric cohort: a single-center retrospective study
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Tomschik, M., Herta, J., Wais, J., Sadowicz, M., Kasprian, G., Feucht, M., Roessler, K., and Dorfer, C.
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- 2021
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219. Analysis of the cervical double transverse foramen in present Spanish population
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Quiles-Guiñau, L., Gomez-Cabrero, A., Miquel-Feucht, M., Blanco-Pérez, E., Mata-Escolano, F., and Juan A. Sanchis-Gimeno
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musculoskeletal diseases ,anatomy ,model ,adult ,prevalence ,musculoskeletal system ,major clinical study ,clinical practice ,Spaniard ,cervical vertebra ,computer assisted tomography ,Student t test ,aged ,female ,male ,Spain ,statistics ,skeleton ,human ,morphometry - Abstract
The aim of our study was to investigate the prevalence and morphometry of double transverse foramina in cervical vertebrae in a living population and to discuss their clinical importance. This is a retrospective single-center study. 253 (84.3%) computed tomography scan images of the cervical spine were collected from a total sample of 300 Spanish subjects that underwent a computed tomography study, 173 from men (68.3%) and 80 from women (31.6%), aged between 18 and 90 years old. The presence or absence of a double transverse foramen of each cervical vertebra was recorded, and the maximum right-left diameter, maximum antero-posterior diameter and area of each transverse foramen were measured. The applied statistics were multivariate models for repeated measures, Student t test and Pearson's chi -squared test. Double transverse foramina in C4, C5, C6 and C7 were observed, the most prevalent being in C6 (45.8%), followed by C5 (23.5%), C4 (4.7%) and C7 (4.3%). The unilateral formation was significantly the most frequent. No differences were found based on sex. In the vertebrae with a double transverse foramen, the principal transverse foramen was significantly larger than the accessory transverse foramen. However, in these vertebrae the principal transverse foramen was significantly smaller when compared with the transverse foramen of normal vertebrae. C6 presents the greatest prevalence of double transverse foramina, although they are also observed in C4, C5 and C7. The double transverse foramen causes the principal transverse foramen to be smaller when compared with normal vertebrae, thus it should be taken into account in clinical practice.
220. Outcome and predictors for successful resuscitation in the emergency room of adult patients in traumatic cardiorespiratory arrest
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Zwingmann, J., Lefering, R., Feucht, M., Südkamp, N. P., Strohm, P. C., and Hammer, T.
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Adult ,Male ,Research ,Resuscitation ,Middle Aged ,Prognosis ,Critical Care and Intensive Care Medicine ,Survival Analysis ,Heart Arrest ,Injury Severity Score ,Logistic Models ,Treatment Outcome ,Germany ,Humans ,Wounds and Injuries ,Female ,Hospital Mortality ,Registries ,Emergency Service, Hospital ,Out-of-Hospital Cardiac Arrest ,Aged - Abstract
Background Data of the TraumaRegister DGU® were analyzed to derive survival rates, neurological outcome and prognostic factors of patients who had suffered traumatic cardiac arrest in the early treatment phase. Methods The database of the TraumaRegister DGU® from 2002 to 2013 was analyzed. The main focus of this survey was on different time points of performed resuscitation. Descriptive and multivariate analyses (logistic regression) were performed with the neurological outcome (Glasgow Outcome Scale) and survival rate as the target variable. Patients were classified according to CPR in the prehospital phase and/or in the emergency room (ER). Patients without CA served as a control group. The database does not include patients who required prehospital CPR but did not achieve ROSC. Results A total of 3052 patients from a total of 38,499 cases had cardiac arrest during the early post-trauma phase and required CPR in the prehospital phase and/or in the ER. After only prehospital resuscitation (n = 944) survival rate was 31.7 %, and 14.7 % had a good/moderate outcome. If CPR was required in the ER only (n = 1197), survival rate was 25.6 %, with a good/moderate outcome in 19.2 % of cases. A total of 4.8 % in the group with preclinical and ER resuscitation survived, and just 2.7 % had a good or moderate outcome. Multivariate logistic regression analysis revealed the following prognostic factors for survival after traumatic cardiac arrest: prehospital CPR, shock, coagulopathy, thorax drainage, preclinical catecholamines, unconsciousness, and injury severity (Injury Severity Score). Conclusions With the knowledge that prehospital resuscitated patients who not reached the hospital could not be included, CPR after severe trauma seems to yield a better outcome than most studies have reported, and appears to be more justified than the current guidelines would imply. Preclinical resuscitation is associated with a higher survival rate and better neurological outcome compared with resuscitation in the ER. If resuscitation in the ER is necessary after a preclinical performed resuscitation the survival rate is marginal, even though 56 % of these patients had a good and moderate outcome. The data we present may support algorithms for resuscitation in the future.
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221. Differentialdiagnostik der Epilepsien in der frühen Kindheit
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Spiel, G., primary, Feucht, M., additional, and Hellwig, E., additional
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- 1989
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222. Die Variabilität der Anzahl und tageszeitlichen Verteilung von Spike wave-Paroxysmen in zwei kurz aufeinanderfolgenden 24-Stunden-EEG-Langzeitableitungen
- Author
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Mayr, N., primary, Zeitlhofer, J., additional, Feucht, M., additional, and Deecke, L., additional
- Published
- 1989
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223. Eslicarbazepine acetate as add-on therapy for focal seizures in children: An integrated evaluation.
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Chiron, C., Cross, J.H., Feucht, M., Auvin, S., Rocha, F., Moreira, J., and Soares-da-Silva, P.
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- 2017
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224. Erratum zu: Wurzelläsionen des Innen- und Außenmeniskus.
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Forkel, P. and Feucht, M.
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- 2017
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225. COORDINATION AND TIMING OF HEART RATE COMPONENTS OF CHILDREN AND ADOLESCENTS WITH TEMPORAL LOBE EPILEPSY.
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Schiecke, K., Wacker, M., Benninger, F., Feucht, M., and Witte, H.
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- 2013
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226. Association of GABAAreceptor subunit genes with childhood absence epilepsy
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Scharfetter, J., Feucht, M., Fuchs, K., Füreder, T., Gößler, R., Cvetkovic, N., Pichlbauer, E., Sieghart, W., Kasper, S., and Aschauer, H.N.
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- 1997
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227. Topographic classification of rolandic spike activity on the basis of the Hilbert transformation
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Hoffmann, K., Feucht, M., Witte, H., Benninger, F., and Bolten, J.
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- 1996
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228. Spacial perception and spatial memory in children with benign childhood epilepsy with centro-temporal spikes (BCECTS)
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Völkl-Kernstock, S., Willinger, U., and Feucht, M.
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HUMAN sexuality , *EPILEPSY , *DRUG therapy , *NEUROPSYCHOLOGICAL tests - Abstract
Abstract: Despite the benign prognosis regarding the response of seizures to treatment, some evidence now exists that patients with benign childhood epilepsy with centro-temporal spikes (BCECTS) may have neuropsychological deficits sometimes leading to academic underachievement. There is, however, no general agreement on the exact profile of functions disturbed. This study was designed to identify significant deficits in spatial perception and memory in children with BCECTS (ages 6–10 years) compared with healthy controls matched for age, sex and socioeconomic status. The neuropsychological test battery administered consisted of the HAWIK-III, the “Tübinger Luria Christensen Neuropsychological Test Set for Children”, the “Kaufman Assessment Battery for Children” and the “Differential Neuropsychological Test”. Twenty-two patients and 22 control subjects completed all tests. Children with BCECTS exhibited significant deficits in higher functions of spatial perception, including spatial orientation, as well as in basal and complex spatial memory. Deficits were independent of the lateralization of the epileptogenic foci and independent of anti-convulsive drug treatment. [Copyright &y& Elsevier]
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- 2006
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229. Management and outcome of vagus nerve stimulator implantation: experience of an otolaryngeal/neuropediatric cooperation.
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Grasl, S., Janik, S., Dressler, A., Diehm, R., Gröppel, G., Eichinger, K., Grasl, M. C., Gstoettner, W., Feucht, M., Vyskocil, E., and Baumgartner, W. D.
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VAGUS nerve , *LENNOX-Gastaut syndrome , *QUALITY of life , *EPILEPSY surgery , *COGNITIVE ability , *AUTOMATED external defibrillation , *PEDIATRIC surgery - Abstract
Objective: Vagus nerve stimulator (VNS) implantation is an established therapy for pharmacoresistant epilepsy that is not amenable to curative epilepsy surgery. Historically, VNS implantation has been performed by neurosurgeons, but otolaryngologist involvement is increasingly common. In this retrospective study, we aimed to evaluate the efficacy and safety of VNS implantation in children and adolescents from the otolaryngologists' perspective. Methods: This study included children and adolescents who had undergone VNS implantation at the study center between 2014 and 2018. Patient files were analyzed with regards to the durations of device implantation and hospitalization, postoperative complications, and clinical outcome, including seizure frequency, clinical global impression of improvement (CGI-I) score, and quality of life (QoL). Results: A total of 73 children underwent VNS surgery. The median age at implantation was 9.3 ± 4.6 years, and median epilepsy duration before VNS surgery was 6 ± 4 years. Lennox–Gastaut syndrome was the most common syndrome diagnosis (62.3%), and structural abnormalities (49.3%) the most frequent etiology. Operation times ranged from 30 to 200 min, and median postoperative hospitalization length was 2 ± 0.9 days. No complications occurred, except for four revisions and two explantations due to local infections (2.7%). Among our patients, 76.7% were responders (≥ 50% reduction in seizure frequency), 72.1% showed improved CGI-I scores, and 18.6–60.5% exhibited considerable improvements in the QoL categories energy, emotional health, and cognitive functions. Conclusion: Our results indicate that VNS implantation is a highly effective and safe treatment option for children and adolescents with AED-refractory epilepsies who are not candidates for curative epilepsy surgery. [ABSTRACT FROM AUTHOR]
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- 2021
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230. What are the factors to affect outcome and healing of meniscus bucket handle tears?
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Hupperich, Andreas, Salzmann, G. M., Niemeyer, P., Feucht, M., Eberbach, H., Südkamp, N. P., and Kühle, J.
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MENISCUS injuries , *ORGAN rupture , *WOUND healing , *ANTERIOR cruciate ligament surgery , *MENISCECTOMY , *KNEE surgery , *MENISCUS surgery , *ARTHROSCOPY , *KNEE , *KNEE injuries , *MENISCUS (Anatomy) , *REOPERATION , *DISEASE relapse , *TREATMENT effectiveness - Abstract
Introduction: The purpose of this study is to identify patient, meniscus rupture and surgical characteristics that influence the outcome and clinical healing following operative repair of bucket handle tears.Methods: Between 02/2006 and 10/2012, a total of 38 patients (14 women, 24 men) with bucket handle tears underwent surgical meniscus repair. There were 27 isolated repairs and 11 with concomitant anterior cruciate ligament (ACL) replacement. Patients were analyzed on an average of 44.4 months (range 15-96 months) after surgery by the use of standardized subjective scoring instruments [Lysholm, International Knee Documentation Committee (IKDC), Knee Injury and Osteoarthritis Outcome Score (KOOS) and Tegner Activity Scale (TAS)]. To identify factors affecting the outcome and suture survival, patient-specific, trauma-specific as well as meniscus- and surgery-specific factors were collected. Patients were divided in two groups with healed menisci (group 1) and re-rupture subjects (group 2). Meniscus re-rupture was defined as a clinical failure.Results: There were 25 patients with healed menisci and 13 (34.2%) that sustained re-rupture and underwent either partial meniscectomy (n = 8) or re-suture (n = 5). Group 1 achieved slightly higher outcome compared to group 2 [Lysholm: 87.8 vs. 84.3 (p = 0.35), IKDC: 86.9 vs. 85.7 (p = 0.67), KOOS: 91.3 vs. 90.5 (p = 0.74)]. TAS was better for group 2 [5.9 vs. 6.8 (p = 0.36)]. Strong impact to result in a significantly increased outcome was identified for higher age, subjective knee joint stability, high preoperative Lysholm Score, short trauma-to-repair time, previous ACL reconstruction and a smaller number of sutures to fulfill meniscus repair. Lower patient age, male gender and higher activity level had the strongest impact to provoke re-rupture.Conclusion: Clinical outcome after meniscus bucket handle suture is satisfying. Re-rupture rate among this collective was 34.2%. Clear risk factors were identified for diminished clinical healing and outcome. [ABSTRACT FROM AUTHOR]- Published
- 2018
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231. Patellar tendinopathy in young elite soccer- clinical and sonographical analysis of a German elite soccer academy.
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Bode, Gerrit, Hammer, Thorsten, Karvouniaris, N., Feucht, M. J., Konstantinidis, L., Südkamp, N. P., and Hirschmüller, A.
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JUMPER'S knee , *SOCCER players , *MUSCLE strength , *PHYSICAL training & conditioning , *TENDONS , *NEOVASCULARIZATION , *PATELLAR ligament injuries , *DOPPLER ultrasonography , *SOCCER , *TENDINITIS , *PATELLAR tendon , *CASE-control method - Abstract
Background: The prevalence of patellar tendinopathy is elevated in elite soccer compared to less explosive sports. While the burden of training hours and load is comparably high in youth elite players (age < 23 years), little is known about the prevalence of patellar tendinopathy at this age. There is only little data available on the influence of age, the amount of training, the position on the field, as well as muscular strength, range of motion, or sonographical findings in this age group. The purpose of the present study was to examine the above-mentioned parameters in all age groups of a German youth elite soccer academy.Methods: One hundred nineteen male youth soccer players (age 15,97 ± 2,24 years, height 174, 60 ± 10,16 cm, BMI 21, 24 ± 2,65) of the U-13 to U-23 teams were part of the study. Data acquisition included sport specific parameters such as footwear, amount of training hours, leg dominance, history of tendon pathologies, and clinical examination for palpatory pain, indurations, muscular circumference, and range of motion. Subjective complaints were measured with the Victorian Institute of Sport Assessment Patellar (VISA-P) Score. Furthermore, sonographical examinations (Aplio SSA-770A/80; Toshiba, Tokyo, Japan) with 12-MHz multifrequency linear transducers (8-14 MHz) of both patellar tendons were performed with special emphasis on hyper- and hypo echogenic areas, diameter and neovascularization.Results: The prevalence of patellar tendinopathies was 13.4%. Seventy-five percent of the players complained of pain of their dominant leg with onset of pain at training in 87.5%. The injured players showed a medium amount of 10.34 ± 3.85 training hours and a medium duration of symptoms of 11.94 ± 18.75 weeks. Two thirds of players with patellar tendinopathy were at the age of 15-17 (Odds ratio 1.89) while no differences between players of the national or regional league were observed. In case of patellar tendinopathy, VISA-P was significantly lower in comparison to healthy players (mean ± SD 76.80 ± 28.56 points vs. 95.85 ± 10.37). The clinical examination revealed local pain at the distal patella, pain at stretching, and thickening of the patellar tendon (p = 0.02). The mean tendon diameter measured 2 cm distally to the patella was 4.10 ± 0.68 mm with a significantly increased diameter of 0.15 mm in case of an underlying tendinopathy (p = 0.00). The incidence of hypo-echogenic areas and neovascularizations was significantly elevated in players with patellar tendon syndrome (PTS) (p = 0.05).Conclusion: The prevalence of patellar tendinopathy in youth elite soccer is relatively high in comparison to available data of adult players. Especially players at the age of 15 to 17 are at considerable risk. Tendon thickening, hypo-echogenic areas, and neovascularization are more common in tendons affected by PTS. [ABSTRACT FROM AUTHOR]- Published
- 2017
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232. Real-World Evidence Study on the Long-Term Safety of Everolimus in Patients With Tuberous Sclerosis Complex: Final Analysis Results
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María Luz, Ruiz-Falcó Rojas, Martha, Feucht, Alfons, Macaya, Bernd, Wilken, Andreas, Hahn, Ricardo, Maamari, Yulia, Hirschberg, Antonia, Ridolfi, John Chris, Kingswood, Institut Català de la Salut, [Ruiz-Falcó Rojas ML] Hospital Infantil Universitario Nino Jesus, Madrid, Spain. [Feucht M] Universitäts-Klinik für Kinder-und Jugendheilkunde Wien, Vienna, Austria. [Macaya A] Vall d’Hebron Hospital Universitari, Barcelona, Spain. [Wilken B] Klinikum Kassel GmbH, Kassel, Germany. [Hahn A] Abteilung Kinderneurologie, Universitätsklinikum Giessen und Marburg GmbH, Giessen, Germany. [Maamari R] Novartis Pharmaceuticals Corporation, East Hanover, NJ, United States, and Vall d'Hebron Barcelona Hospital Campus
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Pharmacology ,neoplasias::hamartoma::esclerosis tuberosa [ENFERMEDADES] ,Esclerosi tuberosa - Tractament ,Avaluació de resultats (Assistència sanitària) ,Otros calificadores::Otros calificadores::/farmacoterapia [Otros calificadores] ,diagnóstico::pronóstico::resultado del tratamiento [TÉCNICAS Y EQUIPOS ANALÍTICOS, DIAGNÓSTICOS Y TERAPÉUTICOS] ,Pharmacology (medical) ,Other subheadings::Other subheadings::/drug therapy [Other subheadings] ,Diagnosis::Prognosis::Treatment Outcome [ANALYTICAL, DIAGNOSTIC AND THERAPEUTIC TECHNIQUES, AND EQUIPMENT] ,Neoplasms::Hamartoma::Tuberous Sclerosis [DISEASES] - Abstract
Everolimus; Post-authorization safety study; Tuberous sclerosis complex Everolimus; Estudio de seguridad posautorización; Complejo de esclerosis tuberosa Everolimus; Estudi de seguretat posterior a l'autorització; Complex d'esclerosi tuberosa The TuberOus SClerosis registry to increase disease Awareness (TOSCA) Post-Authorization Safety Study (PASS) was a non-interventional, multicenter, safety substudy that assessed the long-term safety of everolimus in patients with tuberous sclerosis complex (TSC) receiving everolimus for its licensed indications in the European Union (EU). This substudy also aimed to address TSC-associated neuropsychiatric disorders (TAND), sexual development, and male infertility. Eligible patients were enrolled from 39 sites across 11 countries in the EU. Outcomes of interest included the incidence of adverse events (AEs), serious adverse events (SAEs), treatment-related AEs (TRAEs), AEs leading to everolimus discontinuation, AEs of special interest (AESIs), the observed relationship between everolimus blood levels and incidence of AESIs, TAND, and reproductive clinical features. Herein, we present the final analysis results from this substudy (data cutoff date: 22 January 2020). At data cutoff, 179 patients were enrolled (female, 59.2%; age ≥18 years, 65.9%), of which the majority completed the study (76%). Overall, 121 patients (67.6%) had AEs regardless of causality. The most frequent TRAEs (≥5%) were stomatitis (7.8%), aphthous ulcer (6.7%), and hypercholesterolemia (6.1%). The most common treatment-related SAEs (>1%) were pneumonia (3.4%), influenza, pyelonephritis, aphthous ulcer, stomatitis, dyslipidemia, and hypercholesterolemia (1.1% each). Ten patients (5.6%) reported AEs leading to everolimus discontinuation. The common psychiatric disorders (N = 179) were autism spectrum disorder (21.8%), anxiety disorder (12.8%), “other” psychiatric disorders (8.9%), attention-deficit hyperactivity disorder, and depressive disorder (7.8% each). Of 179 patients, 88 (49.2%) had ≥1 behavioral problem. Of these (n = 88), the most common (>20%) were sleep difficulties (47.7%), anxiety (43.2%), mood swings (37.5%), depression mood (35.2%), impulsivity (30.7%), severe aggression (23.9%), and overactivity (22.7%). Of 179 patients, four (2.2%) reported abnormal puberty onset, and three (1.7%) reported other reproductive disorders. Of 106 females, 23 (21.7%) reported menstrual cycle disorders and 10 (9.4%) reported amenorrhea. Available data did not show delays in sexual maturation or an association between sexual development and infertility. The results demonstrate that everolimus has a manageable long-term safety profile in the TSC treatment setting. No new safety signals emerged. This substudy also contributed to the mapping of TAND and reproductive clinical features in patients with TSC. This study was funded by Novartis Pharmaceuticals Corporation.
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- 2022
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233. Sub-genic intolerance, ClinVar, and the epilepsies: A whole-exome sequencing study of 29,165 individuals
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Joshua E. Motelow, Gundula Povysil, Ryan S. Dhindsa, Kate E. Stanley, Andrew S. Al- len, Yen-Chen Anne Feng, Daniel P. Howrigan, Liam E. Abbott, Ka- therine Tashman, Felecia Cerrato, Caroline Cusick, Tarjinder Singh, Henrike Heyne, Andrea E. Byrnes, Claire Churchhouse, Nick Watts, Matthew Solomonson, Dennis Lal, Namrata Gupta, Benjamin M. Neale, Gianpiero L. Cavalleri, Patrick Cossette, Chris Cotsapas, Peter De Jonghe, Tracy Dixon-Salazar, Renzo Guerrini, Hakon Hakonarson, Erin L. Heinzen, Ingo Helbig, Patrick Kwan, Anthony G. Marson, Slave ? Petrovski, Sitharthan Kamalakaran, Sanjay M. Sisodiya, Randy Stewart, Sarah Weckhuysen, Chantal Depondt, Dennis J. Dlugos, Ingrid E. Scheffer, Pasquale Striano, Catharine Freyer, Roland Krause, Patrick May, Kevin McKenna, Brigid M. Regan, Caitlin A. Bennett, Costin Leu, Stephanie L. Leech, Terence J. O'Brien, Marian Todaro, Hannah Stamberger, Danielle M. Andrade, Quratulain Zulfiqar Ali, Tara R. Sadoway, Heinz Krestel, Andre ? Schaller, Savvas S. Papacostas, Ioanna Kou- siappa, George A. Tanteles, Yiolanda Christou, Katalin Sterbova ?, Marke ? ta Vlckova ?, Lucie Sedlackova, Petra Lassuthova ?, Karl Martin Klein, Felix Rosenow, Philipp S. Reif, Susanne Knake, Bernd A. Neubauer, Friedrich Zimprich, Martha Feucht, Eva M. Reinthaler, Wolfram S. Kunz, Ga ?bor Zsurka, Rainer Surges, Tobias Baumgart- ner, Randi von Wrede, Manuela Pendziwiat, Hiltrud Muhle, An- nika Rademacher, Andreas van Baalen, Sarah von Spiczak, Ulrich Stephani, Zaid Afawi, Amos D. Korczyn, Moien Kanaan, Christina Canavati, Gerhard Kurlemann, Karen Mu ?ller-Schlu ?ter, Gerhard Kluger, Martin Ha ?usler, Ilan Blatt, Johannes R. Lemke, Ilona Krey, Yvonne G. Weber, Stefan Wolking, Felicitas Becker, Stephan Lauxmann, Christian Boßelmann, Josua Kegele, Christian Hengs- bach, Sarah Rau, Bernhard J. Steinhoff, Andreas Schulze-Bonhage, IngoBorggra ?fe, ChristophJ.Schankin, SusanneSchubert-Bast, Herbert Schreiber, Thomas Mayer, Rudolf Korinthenberg, Knut Brockmann, Markus Wolff, Dieter Dennig, Rene Madeleyn, Reetta Ka ?lvia ?inen, Anni Saarela, Oskari Timonen, Tarja Linnankivi, Anna-Elina Lehesjoki, Sylvain Rheims, Gaetan Lesca, Philippe Ryvlin, Louis Maillard, Luc Valton, Philippe Derambure, Fabrice Bartolomei, Edouard Hirsch, Ve ?ronique Michel, Francine Chas- soux, Mark I. Rees, Seo-Kyung Chung, William O. Pickrell, Robert Powell, Mark D. Baker, Beata Fonferko-Shadrach, Charlotte Law- thom, Joseph Anderson, Natascha Schneider, Simona Balestrini, Sara Zagaglia, Vera Braatz, Michael R. Johnson, Pauls Auce, Graeme J. Sills, Larry W. Baum, Pak C. Sham, Stacey S. Cherny, Colin H.T. Lui, Norman Delanty, Colin P. Doherty, Arif Shukralla, Hany El-Naggar, Peter Widdess-Walsh, Nina Barisic, Laura 12 The American Journal of Human Genetics 108, 1-18, June 3, 2021 Please cite this article in press as: Epi25 Collaborative, Sub-genic intolerance, ClinVar, the epilepsies: A whole-exome sequencing study of 29, 165 individuals, The American Journal of Human Genetics (2021), https://doi.org/10.1016/j.ajhg.2021.04.009 Canafoglia, Silvana Franceschetti, Barbara Castellotti, Tiziana Granata, Francesca Ragona, Federico Zara, Michele Iacomino, An- tonella Riva, Francesca Madia, Maria Stella Vari, Vincenzo Salpie- tro, Marcello Scala, Maria Margherita Mancardi, Lino Nobili, Elisa- betta Amadori, Thea Giacomini, Francesca Bisulli, Tommaso Pippucci, Laura Licchetta, Raffaella Minardi, Paolo Tinuper, Lor- enzo Muccioli, Barbara Mostacci, Antonio Gambardella, Angelo Labate, Grazia Annesi, Lorella Manna, Monica Gagliardi, Elena Parrini, Davide Mei, Annalisa Vetro, Claudia Bianchini, Martino Montomoli, Viola Doccini, Carmen Barba, Shinichi Hirose, At- sushi Ishii, Toshimitsu Suzuki, Yushi Inoue, Kazuhiro Yamakawa, Ahmad Beydoun, Wassim Nasreddine, Nathalie Khoueiry Zgheib, Birute Tumiene, Algirdas Utkus, Lynette G. Sadleir, Chontelle King, S. Hande Caglayan, Mutluay Arslan, Zuhal Yap?c?, P?nar To- paloglu, Bulent Kara, Uluc Yis, Dilsad Turkdogan, Asl? Gun- dogdu-Eken, Nerses Bebek, Meng-Han Tsai, Chen-Jui Ho, Chih- Hsiang Lin, Kuang-Lin Lin, I-Jun Chou, Annapurna Poduri, Beth R. Shiedley, Catherine Shain, Jeffrey L. Noebels, Alicia Goldman, Robyn M. Busch, Lara Jehi, Imad M. Najm, Lisa Ferguson, Jean Khoury, Tracy A. Glauser, Peggy O. Clark, Russell J. Buono, Thomas N. Ferraro, Michael R. Sperling, Warren Lo, Michael Privitera, Jac- queline A. French, Steven Schachter, Ruben I. Kuzniecky, Orrin Devinsky, Manu Hegde, David A. Greenberg, Colin A. Ellis, Ethan Goldberg, Katherine L. Helbig, Mahgenn Cosico, Priya Vaidis- waran, Eryn Fitch, Samuel F. Berkovic, Holger Lerche, Daniel H. Lowenstein, David B. Goldstein., Motelow J.E., Povysil G., Dhindsa R.S., Stanley K.E., Allen A.S., Feng Y.-C.A., Howrigan D.P., Abbott L.E., Tashman K., Cerrato F., Cusick C., Singh T., Heyne H., Byrnes A.E., Churchhouse C., Watts N., Solomonson M., Lal D., Gupta N., Neale B.M., Cavalleri G.L., Cossette P., Cotsapas C., De Jonghe P., Dixon-Salazar T., Guerrini R., Hakonarson H., Heinzen E.L., Helbig I., Kwan P., Marson A.G., Petrovski S., Kamalakaran S., Sisodiya S.M., Stewart R., Weckhuysen S., Depondt C., Dlugos D.J., Scheffer I.E., Striano P., Freyer C., Krause R., May P., McKenna K., Regan B.M., Bennett C.A., Leu C., Leech S.L., O'Brien T.J., Todaro M., Stamberger H., Andrade D.M., Ali Q.Z., Sadoway T.R., Krestel H., Schaller A., Papacostas S.S., Kousiappa I., Tanteles G.A., Christou Y., Sterbova K., Vlckova M., Sedlackova L., Lassuthova P., Klein K.M., Rosenow F., Reif P.S., Knake S., Neubauer B.A., Zimprich F., Feucht M., Reinthaler E.M., Kunz W.S., Zsurka G., Surges R., Baumgartner T., von Wrede R., Pendziwiat M., Muhle H., Rademacher A., van Baalen A., von Spiczak S., Stephani U., Afawi Z., Korczyn A.D., Kanaan M., Canavati C., Kurlemann G., Muller-Schluter K., Kluger G., Hausler M., Blatt I., Lemke J.R., Krey I., Weber Y.G., Wolking S., Becker F., Lauxmann S., Bosselmann C., Kegele J., Hengsbach C., Rau S., Steinhoff B.J., Schulze-Bonhage A., Borggrafe I., Schankin C.J., Schubert-Bast S., Schreiber H., Mayer T., Korinthenberg R., Brockmann K., Wolff M., Dennig D., Madeleyn R., Kalviainen R., Saarela A., Timonen O., Linnankivi T., Lehesjoki A.-E., Rheims S., Lesca G., Ryvlin P., Maillard L., Valton L., Derambure P., Bartolomei F., Hirsch E., Michel V., Chassoux F., Rees M.I., Chung S.-K., Pickrell W.O., Powell R., Baker M.D., Fonferko-Shadrach B., Lawthom C., Anderson J., Schneider N., Balestrini S., Zagaglia S., Braatz V., Johnson M.R., Auce P., Sills G.J., Baum L.W., Sham P.C., Cherny S.S., Lui C.H.T., Delanty N., Doherty C.P., Shukralla A., El-Naggar H., Widdess-Walsh P., Barisic N., Canafoglia L., Franceschetti S., Castellotti B., Granata T., Ragona F., Zara F., Iacomino M., Riva A., Madia F., Vari M.S., Salpietro V., Scala M., Mancardi M.M., Nobili L., Amadori E., Giacomini T., Bisulli F., Pippucci T., Licchetta L., Minardi R., Tinuper P., Muccioli L., Mostacci B., Gambardella A., Labate A., Annesi G., Manna L., Gagliardi M., Parrini E., Mei D., Vetro A., Bianchini C., Montomoli M., Doccini V., Barba C., Hirose S., Ishii A., Suzuki T., Inoue Y., Yamakawa K., Beydoun A., Nasreddine W., Khoueiry Zgheib N., Tumiene B., Utkus A., Sadleir L.G., King C., Caglayan S.H., Arslan M., Yapici Z., Topaloglu P., Kara B., Yis U., Turkdogan D., Gundogdu-Eken A., Bebek N., Tsai M.-H., Ho C.-J., Lin C.-H., Lin K.-L., Chou I.-J., Poduri A., Shiedley B.R., Shain C., Noebels J.L., Goldman A., Busch R.M., Jehi L., Najm I.M., Ferguson L., Khoury J., Glauser T.A., Clark P.O., Buono R.J., Ferraro T.N., Sperling M.R., Lo W., Privitera M., French J.A., Schachter S., Kuzniecky R.I., Devinsky O., Hegde M., Greenberg D.A., Ellis C.A., Goldberg E., Helbig K.L., Cosico M., Vaidiswaran P., Fitch E., Berkovic S.F., Lerche H., Lowenstein D.H., Goldstein D.B., Epi25 Collaborative, Institut de Neurosciences des Systèmes (INS), and Aix Marseille Université (AMU)-Institut National de la Santé et de la Recherche Médicale (INSERM)
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0301 basic medicine ,focal epilepsy ,Whole Exome Sequencing ,Cohort Studies ,Epilepsy ,0302 clinical medicine ,Genetic Marker ,Missense mutation ,Exome ,whole-exome sequencing ,generalized epilepsy ,ComputingMilieux_MISCELLANEOUS ,Genetics (clinical) ,Exome sequencing ,seizures ,Genetics ,ClinVar ,Phenotype ,epileptic encephalopathy ,Epi25 ,intolerance ,Case-Control Studie ,Human ,Genetic Markers ,seizure ,Disease Association ,Biology ,Article ,03 medical and health sciences ,Exome Sequencing ,medicine ,Humans ,Genetic Predisposition to Disease ,Genetic Testing ,Generalized epilepsy ,Gene ,Louvain ,[SCCO.NEUR]Cognitive science/Neuroscience ,Correction ,Genetic Variation ,medicine.disease ,epilepsy ,Human genetics ,030104 developmental biology ,Case-Control Studies ,Human medicine ,Cohort Studie ,Genetic generalized epilepsy ,030217 neurology & neurosurgery - Abstract
Summary Both mild and severe epilepsies are influenced by variants in the same genes, yet an explanation for the resulting phenotypic variation is unknown. As part of the ongoing Epi25 Collaboration, we performed a whole-exome sequencing analysis of 13,487 epilepsy-affected individuals and 15,678 control individuals. While prior Epi25 studies focused on gene-based collapsing analyses, we asked how the pattern of variation within genes differs by epilepsy type. Specifically, we compared the genetic architectures of severe developmental and epileptic encephalopathies (DEEs) and two generally less severe epilepsies, genetic generalized epilepsy and non-acquired focal epilepsy (NAFE). Our gene-based rare variant collapsing analysis used geographic ancestry-based clustering that included broader ancestries than previously possible and revealed novel associations. Using the missense intolerance ratio (MTR), we found that variants in DEE-affected individuals are in significantly more intolerant genic sub-regions than those in NAFE-affected individuals. Only previously reported pathogenic variants absent in available genomic datasets showed a significant burden in epilepsy-affected individuals compared with control individuals, and the ultra-rare pathogenic variants associated with DEE were located in more intolerant genic sub-regions than variants associated with non-DEE epilepsies. MTR filtering improved the yield of ultra-rare pathogenic variants in affected individuals compared with control individuals. Finally, analysis of variants in genes without a disease association revealed a significant burden of loss-of-function variants in the genes most intolerant to such variation, indicating additional epilepsy-risk genes yet to be discovered. Taken together, our study suggests that genic and sub-genic intolerance are critical characteristics for interpreting the effects of variation in genes that influence epilepsy.
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- 2021
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234. Differential functional benefits of ultra highfield MR systems within the language network.
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Geißler, A., Matt, E., Fischmeister, F., Wurnig, M., Dymerska, B., Knosp, E., Feucht, M., Trattnig, S., Auff, E., Fitch, W.T., Robinson, S., and Beisteiner, R.
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FUNCTIONAL magnetic resonance imaging , *RELIABILITY (Personality trait) , *BIOLOGICAL neural networks , *COGNITIVE neuroscience , *BRAIN function localization - Abstract
Several investigations have shown limitations of fMRI reliability with the current standard field strengths. Improvement is expected from ultra highfield systems but studies on possible benefits for cognitive networks are lacking. Here we provide an initial investigation on a prominent and clinically highly-relevant cognitive function: language processing in individual brains. 26 patients evaluated for presurgical language localization were investigated with a standardized overt language fMRI paradigm on both 3 T and 7 T MR scanners. During data acquisition and analysis we made particular efforts to minimize effects not related to static magnetic field strength differences. Six measures relevant for functional activation showed a large dissociation between essential language network nodes: although in Wernicke's area 5/6 measures indicated a benefit of ultra highfield, in Broca's area no comparison was significant. The most important reason for this discrepancy was identified as being an increase in susceptibility-related artifacts in inferior frontal brain areas at ultra high field. We conclude that functional UHF benefits are evident, however these depend crucially on the brain region investigated and the ability to control local artifacts. [ABSTRACT FROM AUTHOR]
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- 2014
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235. 65-13 - Association of GABA A receptor subunit genes with childhood absence epilepsy
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Scharfetter, J., Feucht, M., Fuchs, K., Füreder, T., Gößler, R., Cvetkovic, N., Pichlbauer, E., Sieghart, W., Kasper, S., and Aschauer, H.N.
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- 1997
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236. Sex-specific predictors of criminal recidivism in a representative sample of incarcerated youth
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Belinda Plattner, Hans Steiner, Steve S.L. The, Helena C. Kraemer, Susanne M. Bauer, Jochen Kindler, Max H. Friedrich, Siegfried Kasper, Martha Feucht, Psychiatry, Other Research, University of Zurich, and Feucht, M
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Male ,Longitudinal study ,medicine.medical_specialty ,Adolescent ,Cross-sectional study ,lcsh:RC435-571 ,Protective factor ,610 Medicine & health ,Comorbidity ,Kaplan-Meier Estimate ,Neuropsychological Tests ,Wald test ,2738 Psychiatry and Mental Health ,Young Adult ,Sex Factors ,Recurrence ,Risk Factors ,lcsh:Psychiatry ,Interview, Psychological ,Juvenile delinquency ,medicine ,Humans ,Psychiatry ,Proportional Hazards Models ,Recidivism ,Mental Disorders ,Prisoners ,3203 Clinical Psychology ,Age Factors ,10058 Department of Child and Adolescent Psychiatry ,Psychiatry and Mental health ,Clinical Psychology ,Cross-Sectional Studies ,Austria ,Juvenile Delinquency ,Female ,Psychiatric interview ,Crime ,Psychology ,Demography ,Psychopathology - Abstract
Objective: The objective of the study was to identify sex-specific psychopathologic predictors of criminal recidivism among a representative sample of incarcerated youths. Method: In this prospective longitudinal study, the Mini-International Psychiatric Interview for children and adolescents was used to assess psychopathology in juveniles entering an Austrian pretrial detention facility between March 2003 and January 2005. From the beginning of the study until January 2006, data on criminal history were obtained from the Integrierte Vollzugsverwaltung, a database containing criminal information of every individual incarcerated in Austria. Of the 370 eligible participants, the final study sample comprised 328 juveniles (56 girls and 272 boys, age range = 14-21 years, mean = 16.7). Results: Reincarceration rates within the specified follow-up period were 52.6% for the boys and 37.5% for the girls. Using Cox forward stepwise regression and Kaplan-Meier analyses, age at first incarceration (B = −.296, Wald statistic = 17.11, P < .001) and oppositional defiant disorder (B = .751, Wald statistic = 19.25, P < .001) were identified as significant predictors for reoffending in boys. In girls, generalized anxiety disorder (B = 1.97, Wald statistic = 13.71, P < .001) was found to be a predictor for reoffending, whereas dysthymia (B = −1.44, Wald statistic = 4.02, P = .045) was found to serve as protective factor. Conclusion: Our study confirms high rates of reoffending after release from correctional facilities in both sexes. It further defines sex-specific psychopathologic risk factors for relapse in incarcerated juveniles. According to our results, in boys, oppositional defiant disorder and early age at first incarceration are predictive of reincarceration. In girls, anxiety disorder was found to be a risk factor for future offending, whereas dysthymia was found to have a protective influence. Consequently, rehabilitation programs should be sex specific.
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- 2009
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237. 16p11.2 600 kb Duplications confer risk for typical and atypical Rolandic epilepsy
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Eva M. Reinthaler, Dennis Lal, Sebastien Lebon, Michael S. Hildebrand, Hans-Henrik M. Dahl, Brigid M. Regan, Martha Feucht, Hannelore Steinböck, Birgit Neophytou, Gabriel M. Ronen, Laurian Roche, Ursula Gruber-Sedlmayr, Julia Geldner, Edda Haberlandt, Per Hoffmann, Stefan Herms, Christian Gieger, Melanie Waldenberger, Andre Franke, Michael Wittig, Susanne Schoch, Albert J. Becker, Andreas Hahn, Katrin Männik, Mohammad R. Toliat, Georg Winterer, Holger Lerche, Peter Nürnberg, Heather Mefford, Ingrid E. Scheffer, Samuel F. Berkovic, Jacques S. Beckmann, Thomas Sander, Sebastien Jacquemont, Alexandre Reymond, Fritz Zimprich, Bernd A. Neubauer, Bernd Neubauer, Martina Mörzinger, Arvid Suls, Sarah Weckhuysen, Lieve Claes, Liesbet Deprez, Katrien Smets, Tine Van Dyck, Tine Deconinck, Peter De Jonghe, Rikke S Møller, Laura L. Klitten, Helle Hjalgrim, Kiel Campus, Ingo Helbig, Hiltrud Muhle, Philipp Ostertag, Sarah von Spiczak, Ulrich Stephani, Holger Trucks, Christian E. Elger, Ailing A. Kleefuß-Lie, Wolfram S. Kunz, Rainer Surges, Verena Gaus, Dieter Janz, Bettina Schmitz, Felix Rosenow, Karl Martin Klein, Philipp S. Reif, Wolfgang H. Oertel, Hajo M. Hamer, Felicitas Becker, Yvonne Weber, Bobby P.C. Koeleman, Carolien de Kovel, Dick Lindhout, Agnès Ameil, Joris Andrieux, Sonia Bouquillon, Odile Boute, Jeanne de Flandre, Jean Marie Cuisset, Jean-Christophe Cuvellier, Roger Salengro, Albert David, Bert de Vries, Marie-Ange Delrue, Martine Doco-Fenzy, Bridget A. Fernandez, Delphine Heron, Boris Keren, Robert Lebel, Bruno Leheup, Suzanne Lewis, Maria Antonietta Mencarelli, Cyril Mignot, Jean-Claude Minet, Alexandre Moerman, Fanny Morice-Picard, Mafalda Mucciolo, Katrin Ounap, Laurent Pasquier, Florence Petit, Francesca Ragona, Evica Rajcan-Separovic, Alessandra Renieri, Claudine Rieubland, Damien Sanlaville, Elisabeth Sarrazin, Yiping Shen, Mieke van Haelst, Anneke Vulto-van Silfhout, 16p11.2 European Consortium, EPICURE Consortium, EuroEPINOMICS Consortium, Reinthaler, EM., Zimprich, F., Feucht, M., Steinböck, H., Neophytou, B., Geldner, J., Gruber-Sedlmayr, U., Haberlandt, E., Ronen, GM., Roche, L., Lal, D., Nürnberg, P., Sander, T., Lerche, H., Neubauer, B., Mörzinger, M., Suls, A., Weckhuysen, S., Claes, L., Deprez, L., Smets, K., Van Dyck, T., Deconinck, T., De Jonghe, P., Møller, RS., Klitten, LL., Hjalgrim, H., Campus, K., Helbig, I., Muhle, H., Ostertag, P., von Spiczak, S., Stephani, U., Trucks, H., Elger, CE., Kleefuß-Lie, AA., Kunz, WS., Surges, R., Gaus, V., Janz, D., Schmitz, B., Rosenow, F., Klein, KM., Reif, PS., Oertel, WH., Hamer, HM., Becker, F., Weber, Y., Koeleman, BP., de Kovel, C., Lindhout, D., Ameil, A., Andrieux, J., Bouquillon, S., Boute, O., Cordier, MP., Cuisset, JM., Cuvellier, JC., David, A., de Vries, B., Delrue, MA., Doco-Fenzy, M., Fernandez, BA., Heron, D., Keren, B., Lebel, R., Leheup, B., Lewis, S., Mencarelli, MA., Mignot, C., Minet, JC., Moerman, A., Morice-Picard, F., Mucciolo, M., Ounap, K., Pasquier, L., Petit, F., Ragona, F., Rajcan-Separovic, E., Renieri, A., Rieubland, C., Sanlaville, D., Sarrazin, E., Shen, Y., van Haelst, M., Vulto-van Silfhout, A., and Other departments
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Male ,DNA Copy Number Variations ,Chromosomes, Human, Pair 22 ,610 Medicine & health ,Locus (genetics) ,Biology ,Polymorphism, Single Nucleotide ,Temporal lobe ,Epilepsy ,Gene duplication ,Chromosome Duplication ,Genetics ,medicine ,Humans ,Copy-number variation ,Child ,Molecular Biology ,Genetics (clinical) ,Chromosomes, Human, Pair 15 ,Infant ,General Medicine ,Odds ratio ,medicine.disease ,Epilepsy, Rolandic ,Rolandic epilepsy ,Exact test ,Chromosomes, Human, Pair 1 ,Child, Preschool ,Female ,Chromosomes, Human, Pair 16 - Abstract
Rolandic epilepsy (RE) is the most common idiopathic focal childhood epilepsy. Its molecular basis is largely unknown and a complex genetic etiology is assumed in the majority of affected individuals. The present study tested whether six large recurrent copy number variants at 1q21, 15q11.2, 15q13.3, 16p11.2, 16p13.11 and 22q11.2 previously associated with neurodevelopmental disorders also increase risk of RE. Our association analyses revealed a significant excess of the 600 kb genomic duplication at the 16p11.2 locus (chr16: 29.5-30.1 Mb) in 393 unrelated patients with typical (n = 339) and atypical (ARE; n = 54) RE compared with the prevalence in 65,046 European population controls (5/393 cases versus 32/65,046 controls; Fisher's exact test P = 2.83 × 10(-6), odds ratio = 26.2, 95% confidence interval: 7.9-68.2). In contrast, the 16p11.2 duplication was not detected in 1738 European epilepsy patients with either temporal lobe epilepsy (n = 330) and genetic generalized epilepsies (n = 1408), suggesting a selective enrichment of the 16p11.2 duplication in idiopathic focal childhood epilepsies (Fisher's exact test P = 2.1 × 10(-4)). In a subsequent screen among children carrying the 16p11.2 600 kb rearrangement we identified three patients with RE-spectrum epilepsies in 117 duplication carriers (2.6%) but none in 202 carriers of the reciprocal deletion. Our results suggest that the 16p11.2 duplication represents a significant genetic risk factor for typical and atypical RE.
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- 2014
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238. Assessing the Reporting Quality of Machine Learning Algorithms in Head and Neck Oncology.
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Alapati R, Renslo B, Wagoner SF, Karadaghy O, Serpedin A, Kim YE, Feucht M, Wang N, Ramesh U, Bon Nieves A, Lawrence A, Virgen C, Sawaf T, Rameau A, and Bur AM
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- Humans, Algorithms, Head and Neck Neoplasms, Machine Learning
- Abstract
Objective: This study aimed to assess reporting quality of machine learning (ML) algorithms in the head and neck oncology literature using the TRIPOD-AI criteria., Data Sources: A comprehensive search was conducted using PubMed, Scopus, Embase, and Cochrane Database of Systematic Reviews, incorporating search terms related to "artificial intelligence," "machine learning," "deep learning," "neural network," and various head and neck neoplasms., Review Methods: Two independent reviewers analyzed each published study for adherence to the 65-point TRIPOD-AI criteria. Items were classified as "Yes," "No," or "NA" for each publication. The proportion of studies satisfying each TRIPOD-AI criterion was calculated. Additionally, the evidence level for each study was evaluated independently by two reviewers using the Oxford Centre for Evidence-Based Medicine (OCEBM) Levels of Evidence. Discrepancies were reconciled through discussion until consensus was reached., Results: The study highlights the need for improvements in ML algorithm reporting in head and neck oncology. This includes more comprehensive descriptions of datasets, standardization of model performance reporting, and increased sharing of ML models, data, and code with the research community. Adoption of TRIPOD-AI is necessary for achieving standardized ML research reporting in head and neck oncology., Conclusion: Current reporting of ML algorithms hinders clinical application, reproducibility, and understanding of the data used for model training. To overcome these limitations and improve patient and clinician trust, ML developers should provide open access to models, code, and source data, fostering iterative progress through community critique, thus enhancing model accuracy and mitigating biases., Level of Evidence: NA Laryngoscope, 135:687-694, 2025., (© 2024 The American Laryngological, Rhinological and Otological Society, Inc.)
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- 2025
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239. Predictors of Surgical Failure in Pediatric Lesional Temporal Lobe Epilepsy Surgery.
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Tomschik M, Moser K, Diehm R, Herta J, Wais J, Kasprian G, Czech T, Roessler K, Feucht M, and Dorfer C
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- Humans, Child, Female, Male, Adolescent, Child, Preschool, Anterior Temporal Lobectomy, Young Adult, Follow-Up Studies, Drug Resistant Epilepsy surgery, Risk Factors, Adult, Neurosurgical Procedures, Epilepsy, Temporal Lobe surgery, Treatment Failure
- Abstract
Background: Epilepsy surgery can potentially cure pharmacoresistant temporal lobe epilepsy (TLE) in children. However, surgical failures, where patients continue to experience seizures, still exist. We evaluated outcomes in pediatric patients after resective temporal lobe surgery to identify risk factors for failure., Methods: Data on pediatric patients with TLE who underwent surgery were prospectively collected at our institution. Minimum follow-up (FU) was three years after surgery. Resections were stratified into extended resections, i.e., anterior temporal lobectomies, and sparing resections, i.e., lesionectomies and selective amygdalohippocampectomies. Ongoing seizures and relapses within the first three years were considered surgical failures., Results: We included 96 patients after 43 sparing and 52 extended resections from 1993 to 2019 with a median FU of 10.1 years (range 3.0 to 28.3 years). Pathohistology most frequently revealed epilepsy-associated tumors (44.8%), hippocampal sclerosis (37.5%), and focal cortical dysplasias (12.5%). One year postoperatively, 69.8% were seizure free, increasing to 78.5% after five and 72.9% after 10 years. Sparing resections increased the odds for surgical failure in a multivariate analysis (odds ratio: 4.63, P = 0.006). Preoperative focal onset to bilateral tonic-clonic seizures increased the likelihood of seizure relapses (hazard ratio: 3.89, P = 0.006) and contributed to higher odds of surgical failure (odds ratio: 2.79, P = 0.002)., Conclusions: Pediatric patients with TLE undergoing surgery have high rates of long-lasting favorable seizure outcomes. Resection strategy is a prognostic factor for early surgical success in favor of larger resections. Relapses were more frequent in children with focal onset to bilateral tonic-clonic seizures beforesurgery., Competing Interests: Declaration of competing interest For article titled “Predictors of epilepsy surgery failure in pediatric lesional temporal lobe epilepsy surgery” by Tomschik M. et al. the authors have no conflict of interest to disclose., (Copyright © 2024 The Author(s). Published by Elsevier Inc. All rights reserved.)
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- 2025
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240. The Yucatan Minipig: A Reliable Model for Studying Unilateral Vocal Fold Paralysis.
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Kaefer SL, Calcagno H, Feucht M, Morrison RA, Zhang L, Johnson BC, Finnegan PR, Wesson T, Voytik-Harbin S, and Halum S
- Abstract
Objectives/hypothesis: Given the complex pathology underlying unilateral vocal fold paralysis (UVFP), there has been limited systematic exploration of curative treatments in humans. Central to the investigation of experimental therapies includes establishing a reliable and analogous large animal model. The study goal was to create a standardized porcine model of UVFP by establishing characteristic pathophysiology and functional outcomes., Methods: Four female Yucatan minipigs underwent transection of the right recurrent laryngeal nerve (R-RLN). Measurements of acoustic vocalization data, bilateral nerve conduction studies, and laryngeal adductor pressure (LAP) were obtained prior to transection (baseline) and 7weeks after transection. Laryngeal adductor muscle complex volume was analyzed via 3D ultrasound. Histological analysis with myofiber diameter measurement of bilateral thyroarytenoid muscles was conducted at study conclusion., Results: Stimulation of the R-RLN 7weeks after transection demonstrated reduction of motor unit action potentials. In addition, there was a statistically significant reduction in LAP compared to preinjury when stimulating the R-RLN. Voice analysis notably revealed decreased intensity and frequency ranges at 7weeks postinjury, and statistically lower average intensity and frequency of glottic phonations. Denervated right-sided laryngeal muscle volume was statistically lower compared to noninjured side. Morphological changes consistent with denervation, including smaller myofibril diameters and decreased nerve-to-muscle contact, were observed in right thyroarytenoid muscle and associated neuromuscular junctions., Conclusions: Given that our porcine model yielded histopathological and functional changes consistent with human UVFP, it has potential to serve as a viable model for systematic and controlled studies of potential treatments for UVFP., Level of Evidence: NA., Competing Interests: Declaration of Competing Interest The authors declare that they have no known competing financial interests or personal relationships that could have appeared to influence the work reported in this paper., (Copyright © 2024. Published by Elsevier Inc.)
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- 2024
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241. Vigabatrin-associated brain magnetic resonance imaging abnormalities and clinical symptoms in infants with tuberous sclerosis complex.
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Stevering C, Lequin M, Szczepaniak K, Sadowski K, Ishrat S, De Luca A, Leemans A, Otte W, Kwiatkowski DJ, Curatolo P, Weschke B, Riney K, Feucht M, Krsek P, Nabbout R, Jansen A, Wojdan K, Sijko K, Glowacka-Walas J, Borkowska J, Domanska-Pakiela D, Moavero R, Hertzberg C, Hulshof H, Scholl T, Petrák B, Maminak M, Aronica E, De Ridder J, Lagae L, Jozwiak S, Kotulska K, Braun K, and Jansen F
- Abstract
Objective: Previous retrospective studies have reported vigabatrin-associated brain abnormalities on magnetic resonance imaging (VABAM), although clinical impact is unknown. We evaluated the association between vigabatrin and predefined brain magnetic resonance imaging (MRI) changes in a large homogenous tuberous sclerosis complex (TSC) cohort and assessed to what extent VABAM-related symptoms were reported in TSC infants., Methods: The Dutch TSC Registry and the EPISTOP cohort provided retrospective and prospective data from 80 TSC patients treated with vigabatrin (VGB) before the age of 2 years and 23 TSC patients without VGB. Twenty-nine age-matched non-TSC epilepsy patients not receiving VGB were included as controls. VABAM, specified as T2/fluid-attenuated inversion recovery hyperintensity or diffusion restriction in predefined brain areas, were examined on brain MRI before, during, and after VGB, and once in the controls (at approximately age 2 years). Additionally, the presence of VABAM accompanying symptoms was evaluated., Results: Prevalence of VABAM in VGB-treated TSC patients was 35.5%. VABAM-like abnormalities were observed in 13.5% of all patients without VGB. VGB was significantly associated with VABAM (risk ratio [RR] = 3.57, 95% confidence interval [CI] = 1.43-6.39), whereas TSC and refractory epilepsy were not. In all 13 VGB-treated patients with VABAM for whom posttreatment MRIs were available, VABAM entirely resolved after VGB discontinuation. The prevalence of symptoms was 11.7% in patients with VABAM or VABAM-like MRI abnormalities and 4.3% in those without, implicating no significant association (RR = 2.76, 95% CI = .68-8.77)., Significance: VABAM are common in VGB-treated TSC infants; however, VABAM-like abnormalities also occurred in children without either VGB or TSC. The cause of these MRI changes is unknown. Possible contributing factors are abnormal myelination, underlying etiology, recurrent seizures, and other antiseizure medication. Furthermore, the presence of VABAM (or VABAM-like abnormalities) did not appear to be associated with clinical symptoms. This study confirms that the well-known antiseizure effects of VGB outweigh the risk of VABAM and related symptoms., (© 2024 The Author(s). Epilepsia published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)
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- 2024
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242. Up versus down: Does cuff spine orientation affect early adherence to upper airway stimulation?
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Alapati R, Wang N, Feucht M, Ramesh U, Bon Nieves A, Arambula A, Renslo B, Lawrence A, Wagoner SF, Rouse D, and Larsen C
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- Humans, Female, Male, Middle Aged, Aged, Hypoglossal Nerve, Polysomnography, Sleep Apnea, Obstructive therapy, Sleep Apnea, Obstructive physiopathology, Electric Stimulation Therapy instrumentation, Electric Stimulation Therapy methods, Patient Compliance
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Purpose: Upper airway stimulation (UAS) is a treatment option for moderate-to-severe OSA, in which electrical stimulation is applied to the hypoglossal nerve via an electrode cuff. In this study, we assess the effect of electrode cuff positioning on UAS outcomes, in particular device adherence., Methods: Patients at a single academic institution who met the Food and Drug Administration criteria for UAS between 2016 and 2021 were included. The electrode position was documented as superior (cuff spine up) or inferior (cuff spine down) to the hypoglossal nerve based on postoperative lateral neck X-ray. Patients underwent titration polysomnography 2-6 months following surgery. The most recent postoperative variables from sleep studies following titration polysomnogram were used for statistical analysis. Adherence data was downloaded from the UAS device., Results: 327 patients met inclusion criteria. The average age of patients was 60.9 ± 11.1 years, with 105 (32.1%) females. Cuff spine up position was present in 169 (51.7%) patients as compared to 158 (48.3%) with cuff spine down. UAS adherence was significantly higher among cuff spine down patients (45.4 vs. 41.0 h device use/week, p = 0.015). Cuff position was not significantly associated with therapeutic amplitude, change in apnea hypopnea index, or change in symptoms as measured by the Epworth Sleepiness Scale. On multivariable linear regression analysis, cuff spine down position (β = 3.7, CI [1.3, 7.4], p = 0.038) and increased age (β = 0.22, CI [0.07, 0.38], p = 0.005) were associated with increased adherence., Conclusions: UAS cuff spine down position is associated with increased device adherence. Further investigation into cuff positioning is warranted., Competing Interests: Declarations. Ethical approval: All procedures performed in studies involving human participants were in accordance with the ethical standards of the University of Kansas Medical Center and with the 1964 Helsinki declaration and its later amendments or comparable ethical standards. Approved by the University of Kansas Medical Center IRB. Conflicts of interest: All authors certify that they have no affiliations with or involvement in any organization or entity with any financial interest (such as honoraria; educational grants; participation in speakers’ bureaus; membership, employment, consultancies, stock ownership, or other equity interest; and expert testimony or patent-licensing arrangements), or non-financial interest (such as personal or professional relationships, affiliations, knowledge or beliefs) in the subject matter or materials discussed in this manuscript., (© 2024. The Author(s), under exclusive licence to Springer Nature Switzerland AG.)
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- 2024
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243. Seizure outcome in surgically treated pediatric gangliogliomas and dysembryoplastic neuroepitheliomas according to imaging and resection strategies.
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Shawarba J, Roessler K, Tomschik M, Wais J, Winter F, Mayer F, Kasprian G, Haberler C, Traub-Weidinger T, Niederle M, Czech T, Herta J, Dorfer C, and Feucht M
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- Humans, Child, Child, Preschool, Adolescent, Female, Male, Retrospective Studies, Treatment Outcome, Neurosurgical Procedures methods, Neoplasms, Neuroepithelial surgery, Neoplasms, Neuroepithelial diagnostic imaging, Neoplasms, Neuroepithelial complications, Ganglioglioma surgery, Ganglioglioma complications, Ganglioglioma diagnostic imaging, Brain Neoplasms surgery, Brain Neoplasms diagnostic imaging, Brain Neoplasms complications, Seizures surgery, Seizures diagnostic imaging, Seizures etiology, Positron-Emission Tomography, Magnetic Resonance Imaging
- Abstract
Purpose: Imaging and resection strategies for pediatric gangliogliomas (GG) and dysembryoplastic neuroepitheliomas (DNET) presenting with epilepsy were retrospectively analyzed in a consecutive institutional series of surgically treated patients., Methods: Twenty-two children (median 8 years, 3-18 years) presented with seizures for 30 months median (14-55.2 months) due to a histologically verified GG/DNET., Results: There were 20 GG and 2 DNT, 68 % located temporal, 32 % extra-temporal. Seizure history was significantly longer in temporal cases (38 versus 14 months median, p < 0.01). MRI contrast enhancement was present in 50 % and methionine (MET) positron emission tomography (PET) uptake in 70 % (standard uptake values (SUVs) 2.92 mean, from 1.6 to 6.4). 27 % had glucose PET hypometabolism. Primarily, in temporal GG, ECoG (electrocorticography) -guided lesionectomies were performed in 87 % and antero-mesial temporal lobe resections (AMTLR) in 13 %, whereas in extra-temporal GG/DNETs, lesionectomies were performed in 100 %. ILAE Class 1 seizure outcome was primarily achieved in 73 % of the temporal cases, and was increased to 93 % by performing six repeat surgeries using AMTLR. Extratemporal patients experienced ILAE Class 1 seizure outcomes in 86 % without additional surgeries, although harboring significantly more residual tumor (p < 0.005, mean follow-up 28 months)., Conclusion: In children, MET PET imaging for suspected GG is proposed preoperatively showing a high diagnostic sensitivity and an option to delineate the lesions for navigated resection, whereas MRI contrast behavior was of no differential diagnostic use. As a surgical strategy we propose primarily lesionectomies for extratemporal but AMTLR for temporal GG respecting eloquent brain areas., Competing Interests: Declaration of competing interest The authors declare, that there is no conflict of interest according to the submitted manuscript titled Seizure outcome in surgically treated pediatric gangliogliomas and dysembrioplastic neuroepitheliomas according to imaging and resection strategies., (Copyright © 2024 The Author(s). Published by Elsevier Ltd.. All rights reserved.)
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- 2024
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244. Exome sequencing of 20,979 individuals with epilepsy reveals shared and distinct ultra-rare genetic risk across disorder subtypes.
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Chen S, Abou-Khalil BW, Afawi Z, Ali QZ, Amadori E, Anderson A, Anderson J, Andrade DM, Annesi G, Arslan M, Auce P, Bahlo M, Baker MD, Balagura G, Balestrini S, Banks E, Barba C, Barboza K, Bartolomei F, Bass N, Baum LW, Baumgartner TH, Baykan B, Bebek N, Becker F, Bennett CA, Beydoun A, Bianchini C, Bisulli F, Blackwood D, Blatt I, Borggräfe I, Bosselmann C, Braatz V, Brand H, Brockmann K, Buono RJ, Busch RM, Caglayan SH, Canafoglia L, Canavati C, Castellotti B, Cavalleri GL, Cerrato F, Chassoux F, Cherian C, Cherny SS, Cheung CL, Chou IJ, Chung SK, Churchhouse C, Ciullo V, Clark PO, Cole AJ, Cosico M, Cossette P, Cotsapas C, Cusick C, Daly MJ, Davis LK, Jonghe P, Delanty N, Dennig D, Depondt C, Derambure P, Devinsky O, Di Vito L, Dickerson F, Dlugos DJ, Doccini V, Doherty CP, El-Naggar H, Ellis CA, Epstein L, Evans M, Faucon A, Feng YA, Ferguson L, Ferraro TN, Da Silva IF, Ferri L, Feucht M, Fields MC, Fitzgerald M, Fonferko-Shadrach B, Fortunato F, Franceschetti S, French JA, Freri E, Fu JM, Gabriel S, Gagliardi M, Gambardella A, Gauthier L, Giangregorio T, Gili T, Glauser TA, Goldberg E, Goldman A, Goldstein DB, Granata T, Grant R, Greenberg DA, Guerrini R, Gundogdu-Eken A, Gupta N, Haas K, Hakonarson H, Haryanyan G, Häusler M, Hegde M, Heinzen EL, Helbig I, Hengsbach C, Heyne H, Hirose S, Hirsch E, Ho CJ, Hoeper O, Howrigan DP, Hucks D, Hung PC, Iacomino M, Inoue Y, Inuzuka LM, Ishii A, Jehi L, Johnson MR, Johnstone M, Kälviäinen R, Kanaan M, Kara B, Kariuki SM, Kegele J, Kesim Y, Khoueiry-Zgheib N, Khoury J, King C, Klein KM, Kluger G, Knake S, Kok F, Korczyn AD, Korinthenberg R, Koupparis A, Kousiappa I, Krause R, Krenn M, Krestel H, Krey I, Kunz WS, Kurlemann G, Kuzniecky RI, Kwan P, La Vega-Talbott M, Labate A, Lacey A, Lal D, Laššuthová P, Lauxmann S, Lawthom C, Leech SL, Lehesjoki AE, Lemke JR, Lerche H, Lesca G, Leu C, Lewin N, Lewis-Smith D, Li GH, Liao C, Licchetta L, Lin CH, Lin KL, Linnankivi T, Lo W, Lowenstein DH, Lowther C, Lubbers L, Lui CHT, Macedo-Souza LI, Madeleyn R, Madia F, Magri S, Maillard L, Marcuse L, Marques P, Marson AG, Matthews AG, May P, Mayer T, McArdle W, McCarroll SM, McGoldrick P, McGraw CM, McIntosh A, McQuillan A, Meador KJ, Mei D, Michel V, Millichap JJ, Minardi R, Montomoli M, Mostacci B, Muccioli L, Muhle H, Müller-Schlüter K, Najm IM, Nasreddine W, Neaves S, Neubauer BA, Newton CRJC, Noebels JL, Northstone K, Novod S, O'Brien TJ, Owusu-Agyei S, Özkara Ç, Palotie A, Papacostas SS, Parrini E, Pato C, Pato M, Pendziwiat M, Pennell PB, Petrovski S, Pickrell WO, Pinsky R, Pinto D, Pippucci T, Piras F, Piras F, Poduri A, Pondrelli F, Posthuma D, Powell RHW, Privitera M, Rademacher A, Ragona F, Ramirez-Hamouz B, Rau S, Raynes HR, Rees MI, Regan BM, Reif A, Reinthaler E, Rheims S, Ring SM, Riva A, Rojas E, Rosenow F, Ryvlin P, Saarela A, Sadleir LG, Salman B, Salmon A, Salpietro V, Sammarra I, Scala M, Schachter S, Schaller A, Schankin CJ, Scheffer IE, Schneider N, Schubert-Bast S, Schulze-Bonhage A, Scudieri P, Sedláčková L, Shain C, Sham PC, Shiedley BR, Siena SA, Sills GJ, Sisodiya SM, Smoller JW, Solomonson M, Spalletta G, Sparks KR, Sperling MR, Stamberger H, Steinhoff BJ, Stephani U, Štěrbová K, Stewart WC, Stipa C, Striano P, Strzelczyk A, Surges R, Suzuki T, Talarico M, Talkowski ME, Taneja RS, Tanteles GA, Timonen O, Timpson NJ, Tinuper P, Todaro M, Topaloglu P, Tsai MH, Tumiene B, Turkdogan D, Uğur-İşeri S, Utkus A, Vaidiswaran P, Valton L, van Baalen A, Vari MS, Vetro A, Vlčková M, von Brauchitsch S, von Spiczak S, Wagner RG, Watts N, Weber YG, Weckhuysen S, Widdess-Walsh P, Wiebe S, Wolf SM, Wolff M, Wolking S, Wong I, von Wrede R, Wu D, Yamakawa K, Yapıcı Z, Yis U, Yolken R, Yücesan E, Zagaglia S, Zahnert F, Zara F, Zimprich F, Zizovic M, Zsurka G, Neale BM, and Berkovic SF
- Abstract
Identifying genetic risk factors for highly heterogeneous disorders like epilepsy remains challenging. Here, we present the largest whole-exome sequencing study of epilepsy to date, with >54,000 human exomes, comprising 20,979 deeply phenotyped patients from multiple genetic ancestry groups with diverse epilepsy subtypes and 33,444 controls, to investigate rare variants that confer disease risk. These analyses implicate seven individual genes, three gene sets, and four copy number variants at exome-wide significance. Genes encoding ion channels show strong association with multiple epilepsy subtypes, including epileptic encephalopathies, generalized and focal epilepsies, while most other gene discoveries are subtype-specific, highlighting distinct genetic contributions to different epilepsies. Combining results from rare single nucleotide/short indel-, copy number-, and common variants, we offer an expanded view of the genetic architecture of epilepsy, with growing evidence of convergence among different genetic risk loci on the same genes. Top candidate genes are enriched for roles in synaptic transmission and neuronal excitability, particularly postnatally and in the neocortex. We also identify shared rare variant risk between epilepsy and other neurodevelopmental disorders. Our data can be accessed via an interactive browser, hopefully facilitating diagnostic efforts and accelerating the development of follow-up studies., Competing Interests: Competing Interests B.M.N is a member of the scientific advisory board at Deep Genomics and Neumora. No other authors have competing interests to declare
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- 2024
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245. Corrigendum to "Updated clinical recommendations for the management of tuberous sclerosis complex associated epilepsy" [Eur. J. Paediatr. Neurol. 47 (2023) 25-34].
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Specchio N, Nabbout R, Aronica E, Auvin S, Benvenuto A, de Palma L, Feucht M, Jansen F, Kotulska K, Sarnat H, Lagae L, Jozwiak S, and Curatolo P
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- 2024
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246. Correction to: Implementation of a 7T Epilepsy Task Force consensus imaging protocol for routine presurgical epilepsy work-up: effect on diagnostic yield and lesion delineation.
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Hangel G, Kasprian G, Chambers S, Haider L, Lazen P, Koren J, Diehm R, Moser K, Tomschik M, Wais J, Winter F, Zeiser V, Gruber S, Aull-Watschinger S, Traub-Weidinger T, Baumgartner C, Feucht M, Dorfer C, Bogner W, Trattnig S, Pataraia E, and Roessler K
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- 2024
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247. Targeting the EGFR pathway: An alternative strategy for the treatment of tuberous sclerosis complex?
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Schachenhofer J, Gruber VE, Fehrer SV, Haider C, Glatter S, Liszewska E, Höftberger R, Aronica E, Rössler K, Jaworski J, Scholl T, and Feucht M
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- Humans, Everolimus pharmacology, Everolimus therapeutic use, Afatinib therapeutic use, TOR Serine-Threonine Kinases metabolism, Mechanistic Target of Rapamycin Complex 1, ErbB Receptors therapeutic use, Tuberous Sclerosis metabolism, Astrocytoma drug therapy, Astrocytoma metabolism
- Abstract
Introduction: Tuberous sclerosis complex (TSC) is caused by variants in TSC1/TSC2, leading to constitutive activation of the mammalian target of rapamycin (mTOR) complex 1. Therapy with everolimus has been approved for TSC, but variations in success are frequent. Recently, caudal late interneuron progenitor (CLIP) cells were identified as a common origin of the TSC brain pathologies such as subependymal giant cell astrocytomas (SEGA) and cortical tubers (CT). Further, targeting the epidermal growth factor receptor (EGFR) with afatinib, which is expressed in CLIP cells, reduces cell growth in cerebral TSC organoids. However, investigation of clinical patient-derived data is lacking., Aims: Observation of EGFR expression in SEGA, CT and focal cortical dysplasia (FCD) 2B human brain specimen and investigation of whether its inhibition could be a potential therapeutic intervention for these patients., Methods: Brain specimens of 23 SEGAs, 6 CTs, 20 FCD2Bs and 17 controls were analysed via immunohistochemistry to characterise EGFR expression, cell proliferation (via Mib1) and mTOR signalling. In a cell-based assay using primary patient-derived cells (CT n = 1, FCD2B n = 1 and SEGA n = 4), the effects of afatinib and everolimus on cell proliferation and cell viability were observed., Results: EGFR overexpression was observed in histological sections of SEGA, CT and FCD2B patients. Both everolimus and afatinib decreased the proliferation and viability in primary SEGA, tuber and FCD2B cells., Conclusion: Our study demonstrates that EGFR suppression might be an effective alternative treatment option for SEGAs and tubers, as well as other mTOR-associated malformations of cortical development, including FCD2B., (© 2024 The Authors. Neuropathology and Applied Neurobiology published by John Wiley & Sons Ltd on behalf of British Neuropathological Society.)
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- 2024
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248. Outcome of Epilepsy Surgery in MRI-Negative Patients Without Histopathologic Abnormalities in the Resected Tissue.
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Sanders MW, Van der Wolf I, Jansen FE, Aronica E, Helmstaedter C, Racz A, Surges R, Grote A, Becker AJ, Rheims S, Catenoix H, Duncan JS, De Tisi J, Jacques TS, Cross JH, Kalviainen R, Rauramaa T, Chassoux F, Devaux BC, Di Gennaro G, Esposito V, Bodi I, Honavar M, Bien CG, Cloppenborg T, Coras R, Hamer HM, Marusic P, Kalina A, Pieper T, Kudernatsch M, Hartlieb TS, Von Oertzen TJ, Aichholzer M, Dorfmuller G, Chipaux M, Noachtar S, Kaufmann E, Schulze-Bonhage A, Scheiwe CF, Özkara C, Grunwald T, Koenig K, Guerrini R, Barba C, Buccoliero AM, Giordano F, Rosenow F, Menzler K, Garbelli R, Deleo F, Krsek P, Straka B, Arzimanoglou AA, Toulouse J, Van Paesschen W, Theys T, Pimentel J, Loução De Amorim IM, Specchio N, De Palma L, Feucht M, Scholl T, Roessler K, Toledano Delgado R, Gil-Nagel A, Raicevic S, Ristic AJ, Schijns O, Beckervordersandforth J, San Antonio-Arce V, Rumia J, Blumcke I, and Braun KP
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- Humans, Cohort Studies, Electroencephalography, Magnetic Resonance Imaging, Retrospective Studies, Seizures, Treatment Outcome, Epilepsies, Partial diagnostic imaging, Epilepsies, Partial surgery, Epilepsy diagnostic imaging, Epilepsy surgery, Epilepsy, Temporal Lobe surgery
- Abstract
Background and Objective: Patients with presumed nonlesional focal epilepsy-based on either MRI or histopathologic findings-have a lower success rate of epilepsy surgery compared with lesional patients. In this study, we aimed to characterize a large group of patients with focal epilepsy who underwent epilepsy surgery despite a normal MRI and had no lesion on histopathology. Determinants of their postoperative seizure outcomes were further studied., Methods: We designed an observational multicenter cohort study of MRI-negative and histopathology-negative patients who were derived from the European Epilepsy Brain Bank and underwent epilepsy surgery between 2000 and 2012 in 34 epilepsy surgery centers within Europe. We collected data on clinical characteristics, presurgical assessment, including genetic testing, surgery characteristics, postoperative outcome, and treatment regimen., Results: Of the 217 included patients, 40% were seizure-free (Engel I) 2 years after surgery and one-third of patients remained seizure-free after 5 years. Temporal lobe surgery (adjusted odds ratio [AOR]: 2.62; 95% CI 1.19-5.76), shorter epilepsy duration (AOR for duration: 0.94; 95% CI 0.89-0.99), and completely normal histopathologic findings-versus nonspecific reactive gliosis-(AOR: 4.69; 95% CI 1.79-11.27) were significantly associated with favorable seizure outcome at 2 years after surgery. Of patients who underwent invasive monitoring, only 35% reached seizure freedom at 2 years. Patients with parietal lobe resections had lowest seizure freedom rates (12.5%). Among temporal lobe surgery patients, there was a trend toward favorable outcome if hippocampectomy was part of the resection strategy (OR: 2.94; 95% CI 0.98-8.80). Genetic testing was only sporadically performed., Discussion: This study shows that seizure freedom can be reached in 40% of nonlesional patients with both normal MRI and histopathology findings. In particular, nonlesional temporal lobe epilepsy should be regarded as a relatively favorable group, with almost half of patients achieving seizure freedom at 2 years after surgery-even more if the hippocampus is resected-compared with only 1 in 5 nonlesional patients who underwent extratemporal surgery. Patients with an electroclinically identified focus, who are nonlesional, will be a promising group for advanced molecular-genetic analysis of brain tissue specimens to identify new brain somatic epilepsy genes or epilepsy-associated molecular pathways.
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- 2024
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249. Simplifying radiologic reports with natural language processing: a novel approach using ChatGPT in enhancing patient understanding of MRI results.
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Schmidt S, Zimmerer A, Cucos T, Feucht M, and Navas L
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- Humans, Prospective Studies, Knee Joint, Magnetic Resonance Imaging, Natural Language Processing, Health Personnel
- Abstract
Purpose: The aim of this prospective cohort study was to assess the factual accuracy, completeness of medical information, and potential harmfulness of incorrect conclusions by medical professionals in automatically generated texts of varying complexity (1) using ChatGPT, Furthermore, patients without a medical background were asked to evaluate comprehensibility, information density, and conclusion possibilities (2)., Methods: In the study, five different simplified versions of MRI findings of the knee of different complexity (A: simple, B: moderate, C: complex) were each created using ChatGPT. Subsequently, a group of four medical professionals (two orthopedic surgeons and two radiologists) and a group of 20 consecutive patients evaluated the created reports. For this purpose, all participants received a group of simplified reports (simple, moderate, and severe) at intervals of 1 week each for their respective evaluation using a specific questionnaire. Each questionnaire consisted of the original report, the simplified report, and a series of statements to assess the quality of the simplified reports. Participants were asked to rate their level of agreement with a five-point Likert scale., Results: The evaluation of the medical specialists showed that the findings produced were consistent in quality depending on their complexity. Factual correctness, reproduction of relevant information and comprehensibility for patients were rated on average as "Agree". The question about possible harm resulted in an average of "Disagree". The evaluation of patients also revealed consistent quality of reports, depending on complexity. Simplicity of word choice and sentence structure was rated "Agree" on average, with significant differences between simple and complex findings (p = 0.0039) as well as between moderate and complex findings (p = 0.0222). Participants reported being significantly better at knowing what the text was about (p = 0.001) and drawing the correct conclusions the more simplified the report of findings was (p = 0.013829). The question of whether the text informed them as well as a healthcare professional was answered as "Neutral" across all findings., Conclusion: By using ChatGPT, MRI reports can be simplified automatically with consistent quality so that the relevant information is understandable to patients. However, a report generated in this way does not replace a thorough discussion between specialist and patient., (© 2023. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.)
- Published
- 2024
- Full Text
- View/download PDF
250. Implementation of a 7T Epilepsy Task Force consensus imaging protocol for routine presurgical epilepsy work-up: effect on diagnostic yield and lesion delineation.
- Author
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Hangel G, Kasprian G, Chambers S, Haider L, Lazen P, Koren J, Diehm R, Moser K, Tomschik M, Wais J, Winter F, Zeiser V, Gruber S, Aull-Watschinger S, Traub-Weidinger T, Baumgartner C, Feucht M, Dorfer C, Bogner W, Trattnig S, Pataraia E, and Roessler K
- Subjects
- Humans, Adult, Consensus, Magnetic Resonance Imaging methods, Epilepsy diagnostic imaging, Epilepsy surgery, Epilepsies, Partial diagnostic imaging, Epilepsies, Partial surgery, White Matter pathology
- Abstract
Objective: Recently, the 7 Tesla (7 T) Epilepsy Task Force published recommendations for 7 T magnetic resonance imaging (MRI) in patients with pharmaco-resistant focal epilepsy in pre-surgical evaluation. The objective of this study was to implement and evaluate this consensus protocol with respect to both its practicability and its diagnostic value/potential lesion delineation surplus effect over 3 T MRI in the pre-surgical work-up of patients with pharmaco-resistant focal onset epilepsy., Methods: The 7 T MRI protocol consisted of T1-weighted, T2-weighted, high-resolution-coronal T2-weighted, fluid-suppressed, fluid-and-white-matter-suppressed, and susceptibility-weighted imaging, with an overall duration of 50 min. Two neuroradiologists independently evaluated the ability of lesion identification, the detection confidence for these identified lesions, and the lesion border delineation at 7 T compared to 3 T MRI., Results: Of 41 recruited patients > 12 years of age, 38 were successfully measured and analyzed. Mean detection confidence scores were non-significantly higher at 7 T (1.95 ± 0.84 out of 3 versus 1.64 ± 1.19 out of 3 at 3 T, p = 0.050). In 50% of epilepsy patients measured at 7 T, additional findings compared to 3 T MRI were observed. Furthermore, we found improved border delineation at 7 T in 88% of patients with 3 T-visible lesions. In 19% of 3 T MR-negative cases a new potential epileptogenic lesion was detected at 7 T., Conclusions: The diagnostic yield was beneficial, but with 19% new 7 T over 3 T findings, not major. Our evaluation revealed epilepsy outcomes worse than ILAE Class 1 in two out of the four operated cases with new 7 T findings., (© 2023. The Author(s).)
- Published
- 2024
- Full Text
- View/download PDF
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