Chirurgická léčba epilepsie představuje významnou terapeutickou alternativu u pacientů s farmakorezistentní epilepsií.Klinika dětské neurologie 2. LF UK a FN Motol se v rámci Centra pro epilepsie Motol zabývá chirurgickou léčbou epilepsie
Authors report a case of patient suffering from haemophilia A and hepatitis C virus infection acquired probably after blood transfusions and substitution factors application. He was treated with pegylated interferon alpha and ribavirin, with the development of malabsorption symptoms during the therapy. Celiac disease was established by histological, histochemical and serological examinations. oth, interferon alpha and ribavirin treatment as well as virus of hepatitis C may trigger coeliac disease in genetically predisposed individuals. The immunological mechanism of celiac disease include balance disruption between Th1 and Th2 immunological response with Th1 predominance. Only few similar cases have been published in the professional literature to date. Development of celiac disease during interferon alpha therapy with haemophilia A was not published until now (Fig. 3, Ref. 13).
Autism spectrum disorder (ASD) is highly prevalent in subjects with Tuberous Sclerosis Complex (TSC), but we are not still able to reliably predict which infants will develop ASD. This study aimed to identify the early clinical markers of ASD and/or developmental delay (DD) in infants with an early diagnosis of TSC. We prospectively evaluated 82 infants with TSC (6-24 months of age), using a detailed neuropsychological assessment (Bayley Scales of Infant Development-BSID, and Autism Diagnostic Observation Schedule-ADOS), in the context of the EPISTOP (Long-term, prospective study evaluating clinical and molecular biomarkers of EPIleptogenesiS in a genetic model of epilepsy-Tuberous SclerOsis ComPlex) project (NCT02098759). Normal cognitive developmental quotient at 12 months excluded subsequent ASD (negative predictive value 100%). The total score of ADOS at 12 months clearly differentiated children with a future diagnosis of ASD from children without (
Focal cortical dysplasias (FCDs) are a range of malformations of cortical development each with specific histopathological features. Conventional radiological assessment of standard structural MRI is useful for the localization of lesions but is unable to accurately predict the histopathological features. Quantitative MRI offers the possibility to probe tissue biophysical properties in vivo and may bridge the gap between radiological assessment and ex-vivo histology. This review will cover histological, genetic and radiological features of FCD following the ILAE classification and will explain how quantitative voxel- and surface-based techniques can characterise these features. We will provide an overview of the quantitative MRI measures available, their link with biophysical properties and finally the potential application of quantitative MRI to the problem of FCD subtyping. Future research linking quantitative MRI to FCD histological properties should improve clinical protocols, allow better characterisation of lesions in vivo and tailored surgical planning to the individual.
Background.We aimed first to describe trends in cognitive performance over time in a large patient cohort (n= 203) from a single tertiary centre for paediatric epilepsy surgery over the period of 16 years divided in two (developing -pre-2011 vs. established -post-2011).Secondly, we tried to identify subgroups of epilepsy surgery candidates with distinctive epilepsy-related characteristics that associate with their pre-and post-surgical cognitive performance.Thirdly, we analysed variables affecting presurgical and post-surgical IQ/DQ and their change(post-vs.pre-surgical).Methods.We analysed IQ/DQ data obtained using standardized neuropsychological tests before epilepsy surgery and one year post-surgically, along with details of patient's epilepsy, epilepsy surgery and outcomes in terms of freedom from seizures.Using regression analysis, we described the trend in post-operative IQ/DQ.Cognitive outcomes and the associated epilepsy-and epilepsy surgery-related variables were compared between periods before and after 2011.Using multivariate analysis we analysed the effect of individual variables on pre-and post-operative IQ/DQ and its change.Results.Epilepsy surgery tends to improve post-surgical IQ/DQ, most significantly in patients with lower pre-surgical IQ/DQ, and post-surgical IQ/DQ strongly correlates with pre-surgical IQ/DQ (Rho=0.888,p<0.001).We found no significant difference in pre-, post-surgical IQ/DQ and IQ/DQ change between the periods of pre-2011 and post-2011 (p=0.7,p=0.469, p=0.796, respectively).Patients with temporal or extratemporal epilepsy differed in their pre-surgical IQ/DQ (p=0.001)and in IQ/DQ change (p=0.002)from those with hemispheric epilepsy, with no significant difference in post-surgical IQ/DQ (p=0.888).Groups of patients with different underlying histopathology showed significantly different pre-and post-surgical IQ/DQ (p<0.001andp<0.001respectively) but not IQ/DQ change (p=0.345).Variables associated with severe epilepsy showed effect on cognitive performance in multivariate model.Discussion.Post-surgical IQ/DQ strongly correlates with pre-surgical IQ/DQ and greatest IQ/DQ gain occurs in patients with lower pre-surgical IQ/DQ scores.Cognitive performance was not affected by changes in paediatric epilepsy surgery practice.Pre-and post-operative cognitive performances, as well
Abstract We present a case of an 18‐year‐old patient who underwent resective epilepsy surgery for intractable epilepsy caused by focal cortical dysplasia. In the early post‐surgical period, the patient started experiencing atypical seizures refractory to antiepileptic treatment. In due course, abnormally low levels of blood sodium and extremely high levels of blood glucose were discovered. Significant hyperglycaemia was initially ascribed to steroid‐induced diabetes, and antibodies specific to type I diabetes mellitus were subsequently detected, confirming the diagnosis. Following stabilization of glucose and electrolyte levels, the patient became seizure‐free. To our knowledge, this is the first report of presentation of type I diabetes as the cause of early post‐operative seizures. We discuss less common aetiologies of seizures in the early post‐operative period, including metabolic disturbances. Based on our experience, we stress the importance of electrolyte and glucose monitoring in the setting of acute post‐operative seizures.
Resective epilepsy surgery is an established treatment method for children with focal intractable epilepsy, but the use of this method introduces the risk of postsurgical motor deficits. Electrical stimulation mapping (ESM), used to define motor areas and pathways, frequently fails in children. The authors developed and tested a novel ESM protocol in children of all age categories.The ESM protocol utilizes high-frequency electric cortical stimulation combined with continuous intraoperative motor-evoked potential (MEP) monitoring. The relationships between stimulation current intensity and selected presurgical and surgery-associated variables were analyzed in 66 children (aged 7 months to 18 years) undergoing 70 resective epilepsy surgeries in proximity to the motor cortex or corticospinal tracts.ESM elicited MEP responses in all children. Stimulation current intensity was associated with patient age at surgery and date of surgery (F value = 6.81, p < 0.001). Increase in stimulation current intensity predicted postsurgical motor deficits (F value = 44.5, p < 0.001) without effects on patient postsurgical seizure freedom (p > 0.05).The proposed ESM paradigm developed in our center represents a reliable method for preventing and predicting postsurgical motor deficits in all age groups of children. This novel ESM protocol may increase the safety and possibly also the completeness of epilepsy surgery. It could be adopted in pediatric epilepsy surgery centers.
Imatinib mesylate (STI 571; Glivec) is a potent and selective tyrosine kinase inhibitor. The introduction of imatinib has chanced the philosophy of mechanisms of cancer therapy and already changed current management of patients with chronic myeloid leukemia (CML). A total of 49 patients with later chronic phase CML in whom previous therapy with interferon alpha had failed were treated with 400 mg of oral imatinib daily. Patients were evaluated for hematologic and cytogenetic responses. Time to progression, survival, and toxic effects were also evaluated. Complete hematologic responses were reported for 48 of 49 patients studied (98 percent). The median time to a complete hematologic response was 1.2 month; 89% of patients who had a response did so within 4 months. Imatinib induced major cytogenetic responses in 73%; 62% had a complete responses. After a median follow-up of 18 months, CML had not progressed to the accelerated or blast phases in an estimated 98% of patients, and 100 percent of the patients were alive. Grade 3 or 4 nonhematologic toxic effects were manageable. No one of patients discontinued treatment due to of drug-related adverse events, and no treatment-related deaths occurred. The results of current study indicate that imatinib has a significant therapy benefit in CML patients in whom treatment with IFN alpha had failed. Therefore, has favorably changed the prognosis for patients with chronic myelogenous leukemia.
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