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39 záznamů v Medvik Filtry

Článek

Association of Early MRI Characteristics With Subsequent Epilepsy and Neurodevelopmental Outcomes in Children With Tuberous Sclerosis Complex

Hulshof, Hanna M
Autor Hulshof, Hanna M ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland. h.m.hulshof-3@umcutrecht.nl
Kuijf, Hugo J
Autor Kuijf, Hugo J ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Kotulska, Katarzyna
Autor Kotulska, Katarzyna ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Curatolo, Paolo
Autor Curatolo, Paolo ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Weschke, Bernhard
Autor Weschke, Bernhard ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Riney, Kate
Autor Riney, Kate ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Krsek, Pavel
Autor Krsek, Pavel ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Feucht, Martha
Autor Feucht, Martha ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Nabbout, Rima
Autor Nabbout, Rima ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland
Lagae, Lieven
Autor Lagae, Lieven ORCID From the Department of Pediatric Neurology, Brain Center (H.M.H., W.M.O., K.B., F.E.J.),* Image Sciences Institute (H.J.K.), Biomedical MR Imaging and Spectroscopy Group, Center for Image Sciences (W.M.O.), and Department of Radiology (M.H.L.), University Medical Center Utrecht, the Netherlands Instytut Pomnik-Centrum Zdrowia Dziecka (K.K., K.S., S.J., E.J.), The Children's Memorial Health Institute,* Warsaw, Poland Department of Pediatric Neuropsychiatry (P.C., A.B.), Tor Vergata University, Rome, Italy Department of Neuropediatrics (B.W. C.H.), Charite-Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt-Universitat zu Berlin, Berlin Institute of Health (BIH), Germany Neurosciences Unit (K.R.), Queensland Children's Hospital, Brisbane Australia and University of Queensland, Brisbane, Australia Department of Pediatric Neurology (P.K., B.B.), Motol University Hospital, Prague, Czech Republic Medizinische Universitaet Wien (M.F., T.S.),* Vienna, Austria Department of Pediatric Neurology (R.N.), Necker Enfants Maladies Hospital,* Paris, France Katholieke Universiteit (L.L., J.D.R.),* Leuven Pediatric Neurology Unit (A.J.), Department of Pediatrics, UZ Brussel, Brussels, Belgium Utrecht University (W.M.O.), the Netherlands Transition Technologies (K.S.), Warsaw, Poland Department of (Neuro)Pathology (E.M.A.A.), Amsterdam UMC, University of Amsterdam, Amsterdam Neuroscience Stichting Epilepsie Instellingen Nederland (SEIN) (E.M.A.A.), Hoofddorp, the Netherlands Brigham and Women's Hospital (D.J.K.), Harvard Medical School, Boston, MA and Department of Child Neurology (S.J.), Medical University of Warsaw, Poland

Neurology. 2022 ; 98 (12) : e1216-e1225. [pub] 20220131

ISSN 1526-632X
Medvik
Zdroj

BACKGROUND AND OBJECTIVES: Multiple factors have been found to contribute to the high risk of epilepsy in infants with tuberous sclerosis complex (TSC), including evolution of EEG abnormalities, TSC gene variant, and MRI characteristics. The aim of this prospective multicenter study was to identify early MRI biomarkers of epilepsy in infants with TSC aged <6 months and before seizure onset, and associate these MRI biomarkers with neurodevelopmental outcomes at 2 years of age. The study was part of the EPISTOP project. METHODS: We evaluated brain MRIs performed in infants younger than 6 months with TSC. We used harmonized MRI protocols across centers and children were monitored closely with neuropsychological evaluation and serial video EEG. MRI characteristics, defined as tubers, radial migration lines, white matter abnormalities, cysts, calcifications, subependymal nodules (SEN), and subependymal giant cell astrocytoma (SEGA), were visually evaluated and lesions were detected semiautomatically. Lesion to brain volume ratios were calculated and associated with epilepsy and neurodevelopmental outcomes at 2 years. RESULTS: Lesions were assessed on MRIs from 77 infants with TSC; 62 MRIs were sufficient for volume analysis. The presence of tubers and higher tuber-brain ratios were associated with the development of clinical seizures, independently of TSC gene variation and preventive treatment. Furthermore, higher tuber-brain ratios were associated with lower cognitive and motor development quotients at 2 years, independently of TSC gene variation and presence of epilepsy. DISCUSSION: In infants with TSC, there is a significant association between characteristic TSC lesions detected on early brain MRI and development of clinical seizures, as well as neurodevelopmental outcomes in the first 2 years of life. According to our results, early brain MRI findings may guide clinical care for young children with TSC. CLASSIFICATION OF EVIDENCE: This study provides Class I evidence that in infants with TSC, there is a significant association between characteristic TSC lesions on early brain MRI and the development of clinical seizures and neurodevelopmental outcomes in the first 2 years of life.

MeSH
dítě MeSH
epilepsie * komplikace etiologie MeSH
kojenec MeSH
lidé MeSH
magnetická rezonanční tomografie MeSH
předškolní dítě MeSH
prospektivní studie MeSH
tuberózní skleróza * komplikace diagnostické zobrazování genetika MeSH
záchvaty komplikace MeSH
Check Tag
dítě MeSH
kojenec MeSH
lidé MeSH
předškolní dítě MeSH
Publikační typ
časopisecké články MeSH
multicentrická studie MeSH
práce podpořená grantem MeSH

Článek

Sleep Disruption in Epilepsy: Ictal and Interictal Epileptic Activity Matter

Annals of neurology. 2020 ; 88 (5) : 907-920. [pub] 20200921

Ann Neurol
ISSN 1531-8249
Medvik
Zdroj

OBJECTIVE: Disturbed sleep is common in epilepsy. The direct influence of nocturnal epileptic activity on sleep fragmentation remains poorly understood. Stereo-electroencephalography paired with polysomnography is the ideal tool to study this relationship. We investigated whether sleep-related epileptic activity is associated with sleep disruption. METHODS: We visually marked sleep stages, arousals, seizures, and epileptic bursts in 36 patients with focal drug-resistant epilepsy who underwent combined stereo-electroencephalography/polysomnography during presurgical evaluation. Epileptic spikes were detected automatically. Spike and burst indices (n/sec/channel) were computed across four 3-second time windows (baseline sleep, pre-arousal, arousal, and post-arousal). Sleep stage and anatomic localization were tested as modulating factors. We assessed the intra-arousal dynamics of spikes and their relationship with the slow wave component of non-rapid eye-movement sleep (NR) arousals. RESULTS: The vast majority of sleep-related seizures (82.4%; 76.5% asymptomatic) were followed by awakenings or arousals. The epileptic burst index increased significantly before arousals as compared to baseline and postarousal, irrespective of sleep stage or brain area. A similar pre-arousal increase was observed for the spike index in NR stage 2 and rapid eye-movement sleep. In addition, the spike index increased during the arousal itself in neocortical channels, and was strongly correlated with the slow wave component of NR arousals (r = 0.99, p < 0.0001). INTERPRETATION: Sleep fragmentation in focal drug-resistant epilepsy is associated with ictal and interictal epileptic activity. The increase in interictal epileptic activity before arousals suggests its participation in sleep disruption. An additional increase in the spike rate during arousals may result from a sleep-wake boundary instability, suggesting a bidirectional relationship. ANN NEUROL 2020;88:907-920.

Článek

Cardiac effects of repeated focal seizures in rats induced by intrahippocampal tetanus toxin: Bradyarrhythmias, tachycardias, and prolonged interictal QT interval

Epilepsia. 2020 ; 61 (4) : 798-809. [pub] 20200322

ISSN 1528-1167
Medvik
Zdroj

OBJECTIVE: To determine electrical changes in the heart in a chronic, nonstatus model of epilepsy. METHODS: Electrocorticography (ECoG) and electrocardiography (ECG) of nine animals (five made epileptic by intrahippocampal injection of tetanus neurotoxin (TeNT) and four controls), are monitored continuously by radiotelemetry for up to 7 weeks. RESULTS: Epileptic animals develop a median of 168 seizures, with postictal tachycardias reaching a mean of 487 beats/min and lasting a mean of 661 seconds. Ictal changes in heart rate include tachycardia and in the case of convulsive seizures, bradyarrhythmias resembling Mobitz type 1 second-degree atrioventricular block; notably the P-R interval increased before block. Postictally, the amplitude of T wave increases. Interictally, QT dependence on RR is modest and conventional QT corrections prove ineffective. Interictal QT intervals, measured at a heart rate of 400 bpm, increased from 65 to 75 ms, an increase dependent on seizure incidence over the preceding 10-14 days. SIGNIFICANCE: Repeated seizures induce a sustained tachycardia and increase in QT interval of the ECG and evoke arrhythmias including periods of atrioventricular block during Racine type 4 and 5 seizures. These changes in cardiac function may predispose to development in fatal arrhythmias and sudden death in humans with epilepsy.

MeSH
bradykardie etiologie MeSH
elektrokardiografie MeSH
elektrokortikografie MeSH
krysa rodu rattus MeSH
náhlá neočekávaná smrt při epilepsii etiologie MeSH
neurotoxiny toxicita MeSH
potkani Wistar MeSH
tachykardie etiologie MeSH
tetanový toxin toxicita MeSH
záchvaty chemicky indukované komplikace patofyziologie MeSH
zvířata MeSH
Check Tag
krysa rodu rattus MeSH
mužské pohlaví MeSH
zvířata MeSH
Publikační typ
časopisecké články MeSH
práce podpořená grantem MeSH

Článek

Prognostic factors and seizure outcome in posterior reversible encephalopathy syndrome (PRES) in children with hematological malignancies and bone marrow failure: A retrospective monocentric study

Seizure. 2019 ; 72 (-) : 1-10. [pub] 20190815

ISSN 1532-2688
Medvik
Zdroj

PURPOSE: The aim of this study was to evaluate seizure outcome in children with hematological malignancies and PRES and to identify prognostic factors that could help manage the syndrome. METHOD: We retrospectively reviewed the report data of 21 patients diagnosed with hematological malignancy or aplastic anemia and PRES between 2008 and 2018. Basic demographic data, oncology treatment, presymptomatic hypertension before PRES manifestation, neurological status, seizure type, and EEG and MRI findings at PRES onset and at the one-year follow-up visit were studied. Patients who developed remote symptomatic seizures or epilepsy were identified. RESULTS: We included 21 children (11 females and 10 males) in the study. Sixteen patients (76.2%) were diagnosed with ALL and the rest individually with AML, CML, T-lymphoma, Burkitt lymphoma, and severe aplastic anemia. Presymptomatic hypertension (PSH) was evaluated in 19 patients and was present in 18 (94.7%). The duration was 9 h and more in 16 patients (88.8%); the severity was grade II in 12 patients (66.7%). Seizures as the initial symptom of PRES were present in 17 patients (80.9%). Four patients (19.0%) were assessed with remote symptomatic seizures. Two of them (9.5%) had ongoing seizures at the one-year follow-up visit and were diagnosed with epilepsy. The presence of gliosis on follow-up MRI indicated worse outcome with development of epilepsy (without statistical significance). CONCLUSIONS: PRES syndrome has an overall good prognosis and the evolution to epilepsy is rare. The severity and duration of PSH or seizure severity and EEG findings at PRES onsetwere not associated with worse neurological outcomes in this study.

Článek

The landscape of epilepsy-related GATOR1 variants

Genetics in medicine. 2019 ; 21 (2) : 398-408. [pub] 20180810

Genet Med
ISSN 1530-0366
Medvik
Zdroj

PURPOSE: To define the phenotypic and mutational spectrum of epilepsies related to DEPDC5, NPRL2 and NPRL3 genes encoding the GATOR1 complex, a negative regulator of the mTORC1 pathway METHODS: We analyzed clinical and genetic data of 73 novel probands (familial and sporadic) with epilepsy-related variants in GATOR1-encoding genes and proposed new guidelines for clinical interpretation of GATOR1 variants. RESULTS: The GATOR1 seizure phenotype consisted mostly in focal seizures (e.g., hypermotor or frontal lobe seizures in 50%), with a mean age at onset of 4.4 years, often sleep-related and drug-resistant (54%), and associated with focal cortical dysplasia (20%). Infantile spasms were reported in 10% of the probands. Sudden unexpected death in epilepsy (SUDEP) occurred in 10% of the families. Novel classification framework of all 140 epilepsy-related GATOR1 variants (including the variants of this study) revealed that 68% are loss-of-function pathogenic, 14% are likely pathogenic, 15% are variants of uncertain significance and 3% are likely benign. CONCLUSION: Our data emphasize the increasingly important role of GATOR1 genes in the pathogenesis of focal epilepsies (>180 probands to date). The GATOR1 phenotypic spectrum ranges from sporadic early-onset epilepsies with cognitive impairment comorbidities to familial focal epilepsies, and SUDEP.

Abstrakt

Paroxysmální hypertenze

Arteriální hypertenze - současné klinické trendy. 2017 ; () : 69-75.

ISBN 978-80-7553-299-2
Medvik
Zdroj

Článek

Recurrent episodes of myoglobinuria, mental retardation and seizures but no hemolysis in two brothers with phosphoglycerate kinase deficiency

Neuromuscular disorders. 2016 ; 26 (3) : 207-210. [pub] 20151130

Neuromuscul Disord
ISSN 1873-2364
Medvik
Zdroj

We report two brothers with mild intellectual deficiency, exercise intolerance, rhabdomyolysis, seizures and no hemolysis. Phosphoglycerate kinase (PGK) activity was strongly decreased in their red blood cells. Subsequent molecular analysis of PGK1 revealed hemizygosity for a novel mutation c.756 + 3A > G, in intron 7. Analysis of the effect of this mutation on pre-mRNA processing demonstrated markedly decreased levels of normal PGK1 mRNA. In addition, the c.756 + 3A > G change resulted in abnormally spliced transcripts. If translated, these transcripts mostly encode for C-terminally truncated proteins. The consequences of the c.756 + 3A > G mutation is discussed, as well as the genotype-to-phenotype correlation with regard to previously described mutations (PGK Fukuroi and PGK Antwerp), which also result in C-terminal truncated proteins.

MeSH
fenotyp MeSH
fosfoglycerátkinasa nedostatek genetika ultrastruktura MeSH
genetické nemoci vázané na chromozom X komplikace diagnóza genetika MeSH
genotyp MeSH
hemolýza MeSH
kosterní svaly patologie MeSH
lidé MeSH
mentální retardace komplikace MeSH
mladiství MeSH
mutace MeSH
myoglobinurie komplikace MeSH
sourozenci MeSH
vrozené poruchy metabolismu komplikace diagnóza genetika MeSH
záchvaty komplikace MeSH
Check Tag
lidé MeSH
mladiství MeSH
mužské pohlaví MeSH
Publikační typ
časopisecké články MeSH
kazuistiky MeSH
práce podpořená grantem MeSH

Článek

Případ závažného průběhu HIV-1 meningoencefalitidy a lues secundaria
[Case of severe progression of HIV-1 meningoencephalitis and lues secundaria]

Česká a slovenská neurologie a neurochirurgie. 2016 ; 79 (6) : 703-706.

ISSN 1210-7859
Medvik
Zdroj

Akutní meningoencefalitida objevující se několik týdnů až měsíců po nákaze lidským virem imunodeficience (HIV) může mít těžký průběh. Kazuistika popisuje neobvyklý případ 40letého pacienta, u kterého byla při vyšetřování horečnatého stavu a hepatorenálního selhání zjištěna akutní HIV infekce a lues secundaria. Dva dny po sdělení diagnózy HIV infekce a syfilis u pacienta došlo k hyperventilaci, křečím a bezvědomí, pro které musel být intubován. Tato závažná afektivní reakce vzbudila podezření na současně probíhající akutní neuroinfekci. Analýza likvoru, která prokázala mírnou lymfocytární pleocytózu a vysokou hladinu HIV-1 RNA, vedla ke stanovení diagnózy HIV-1 meningoencefalitidy. Současně byla vzhledem k nepřítomnosti intratékální syntézy antitreponemových protilátek vyloučena neurosyfilis. Následně zavedená kombinovaná antiretrovirová terapie, neurologická a psychiatrická léčba i psychoterapeutická podpora vedly k významnému zlepšení neuropsychického stavu nemocného. Terapií betalaktamovými antibiotiky pak byla zvládnuta lues secundaria, což se projevilo normalizací jaterních i ledvinných funkcí. Kazuistika dokumentuje podle našich znalostí dosud v literatuře nepopsaný těžký průběh akutní HIV-1 meningoencefalitidy se současně probíhající komplikovanou lues secundaria.

Acute meningoencephalitis manifesting itself within weeks to months after infection with the human immunodeficiency virus (HIV) and may have severe course. We present an uncommon case of a 40-year-old male newly diagnosed with acute HIV infection and secondary syphilis after he was examined for fever and hepatorenal failure. Two days after the patient was informed about his HIV and syphilis diagnosis he developed hyperventilation, seizures and coma for which he had to be intubated. The reaction raised suspicion of an ongoing acute neuroinfection. Subsequent cerebrospinal fluid analysis revealed mild lymphocytic pleocytosis and high level of HIV-1 RNA leading to diagnosis of HIV-1 meningoencephalitis. Absence of intrathecal synthesis of antitreponemal antibodies excluded neurosyphilis. Treatment with a combination of antiretroviral therapy, neurological and psychiatric medication and supportive psychotherapy led to significant improvement of patient’s neuropsychological condition. In addition, therapy with betalactam antibiotics cured syphilis and resulted in normalization of liver and renal functions. To our knowledge, no case study of severe HIV-1 meningoencephalitis with concomitant complicated secondary syphilis with hepatorenal failure has thus far been reported in the literature.

Klíčová slova
HIV-1 meningoencefalitida, hepatorenální selhání,
MeSH
akutní nemoc MeSH
antibakteriální látky terapeutické užití MeSH
antiretrovirové látky terapeutické užití MeSH
dospělí MeSH
HIV infekce * diagnóza farmakoterapie komplikace MeSH
kombinovaná farmakoterapie MeSH
lidé MeSH
meningoencefalitida * diagnóza etiologie farmakoterapie MeSH
mezioborová komunikace MeSH
péče o pacienty v kritickém stavu MeSH
poruchy nálady etiologie farmakoterapie komplikace MeSH
renální insuficience diagnóza MeSH
selhání jater diagnóza MeSH
syfilis * diagnóza farmakoterapie MeSH
záchvaty etiologie farmakoterapie komplikace MeSH
Check Tag
dospělí MeSH
lidé MeSH
mužské pohlaví MeSH
Publikační typ
kazuistiky MeSH

Článek

Jak žijí děti s epilepsií

Lhoťan, Josef
Autor Lhoťan, Josef Ústav ošetřovatelství a porodní asistence, LF, Ostravská univerzita, Ostrava

Zdravotnictví a medicína. 2014 ; 2014 (19) : X příl.. (Sestra)

Zdr. med.
ISSN 2336-2987
Medvik
Zdroj

Sestra. 2014 ; () : X.

ISSN 1210-0404
Medvik
Zdroj

MeSH
dítě * MeSH
epilepsie * diagnóza farmakoterapie genetika klasifikace komplikace prevence a kontrola psychologie MeSH
hodnotící studie jako téma * MeSH
kvalita života * MeSH
lidé MeSH
mladiství MeSH
záchvaty * diagnóza farmakoterapie komplikace prevence a kontrola psychologie MeSH
Check Tag
dítě * MeSH
lidé MeSH
mladiství MeSH

Článek

Peri-ictal headache due to epileptiform activity in a disconnected hemisphere

Epileptic disorders. 2014 ; 16 (2) : 213-7.

Epileptic Disord
ISSN 1294-9361
Medvik
Zdroj

A 4-year-old girl with intractable epilepsy due to left-side hemispheric cortical dysplasia underwent a hemispherotomy. She was seizure-free after the surgery. EEG showed persistent abundant epileptiform activity over the left (disconnected) hemisphere, including ictal patterns that neither generalised nor had clinical correlates. Antiepileptic medication was completely withdrawn four years following the surgery. One week after the withdrawal, she developed episodes of intense left-sided hemicranias (ipsilateral to the surgery) with vomiting and photophobia that did not resemble her habitual seizures and were unresponsive to non-steroidal anti-inflammatory drugs. Video-EEG showed association of the headache attacks with ictal patterns over the disconnected hemisphere. Brain MRI revealed increased signal changes in the left hemisphere. Attacks responded promptly to i.v. midazolam and carbamazepine at a low dose. Mechanisms underlying peri-ictal headache originating in the disconnected hemisphere are discussed. [Published with video sequences].

MeSH
antikonvulziva terapeutické užití MeSH
bolesti hlavy komplikace patologie MeSH
elektroencefalografie MeSH
epilepsie komplikace patologie chirurgie MeSH
funkční lateralita MeSH
hemisferektomie MeSH
karbamazepin terapeutické užití MeSH
lidé MeSH
midazolam terapeutické užití MeSH
mozek patologie MeSH
neurochirurgické výkony MeSH
předškolní dítě MeSH
záchvaty komplikace patologie MeSH
Check Tag
lidé MeSH
předškolní dítě MeSH
ženské pohlaví MeSH
Publikační typ
časopisecké články MeSH
kazuistiky MeSH
práce podpořená grantem MeSH

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