Search

Copyright of Česká a Slovenská Neurologie a Neurochirurgie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Autism spectrum disorders (ASD) are neurodevelopmental and neuropsychiatric disorders with clinical manifestation in childhood, characterized by difficulties in social interaction and communication, limited interests, and repetitive behavior. In recent years, there has been a significant increase in the prevalence of this disorder, currently affecting 1–2% of children. In pathophysiology, genetic factors are mainly used, which are also modified in their phenotypic expression by environmental factors. A large percentage of patients with ASD also have a variety of gastrointestinal problems; children experience constipation or diarrhea, flatulence, or nonspecific abdominal pain. In last years, the connection of intestinal symptomatology with the manifestations of ASD has come to the forefront of scientific interest with the development of new molecular-bio logical methods of studying the community of intestinal microorganisms, the gut microbiota. Communication between the gut and the CNS (the gut-brain axis) is made possible by a very complex two-way neurohumoral communication system. This system ensures the effect of the intestinal microbiota on brain functions and allows the brain signals to affect the intestinal microbiota activity and the gastrointestinal tract functions. This article focuses on various pathophysiological mechanisms involved in these processes and discusses in detail the possible therapeutic modalities that affect the gut microbiota composition and function, such as the use of vancomycin, oxytocin, prebiotics and probiotics, as well as fecal transplantation, which has very promising results in relation to both gastrointestinal and ASD symptoms. [ABSTRACT FROM AUTHOR]

Copyright of Česká a Slovenská Neurologie a Neurochirurgie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Česká a Slovenská Neurologie a Neurochirurgie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Over 70,000 people with active epilepsy, of which 30% with drug-resistant form – that's the situation in the Czech Republic, which makes epilepsy a serious health and socio-economic problem. However, even most of these patients can be helped by non-pharmacological treatment – surgically (= epileptosurgery) or using a ketotherapy. Both modalities are fully established in therapeutic management of epilepsies and their provision falls within the competence of specialized epilepsy centres. Following article briefly summarizes the basic principles, efficacy, limitations and practical aspects of treatment in both areas. [ABSTRACT FROM AUTHOR]

Autism spectrum disorder (ASD) is ranked among neurodevelopmental and neuropsychiatric disorders with clinical onset in childhood. In recent years, this disorder has come to the forefront of scientific interest, mainly due to increasing prevalence of up to 1/ 68 in 2014. The genetic causes of the disorder and the pathophysiological mechanisms that might be involved in the development of ASD are revealed. Comorbid occur-rence with epilepsy is quite com-mon, in up to 46% of cases. This article sum-marizes the cur-rent knowledge in this field with a focus on the hypothesis of excitatory-inhibitory imbalance. Some genetic causes of ASD and cur-rent dia-gnostic options are also discus-sed. The pathophysiology of the co-morbidity of ASD and epilepsy is discus-sed in terms of pos-sible therapeutic interventions. [ABSTRACT FROM AUTHOR]

Ketogenic diet has been established in the treatment of epilepsy for almost 100 years. It is ir­replaceable in paediatric epileptology, especial­ly in the treatment of myoclonic-atonic epilepsy, mak­­ing it the most ef­fective therapeutic option. With grow­­ing knowledge and implementation of the modified Atkins diet and the low glycaemic index treatment in clinical practice, the usage of ketother­apy, which is an umbrel­la term for all dietary regimes based on carbohydrate restriction and fat surplus, has been extended to all age brackets of epilepsy patients. Nevertheles­s, it is still a highly-selective ther­apy, specified for an exclusive circle of patients with perfect compliance, which is fundamental for clinical succes­s. This work aims to provide an overview of cur­rent knowledge in the field of ketother­apy and to provide clinicians with the insight into the important practical aspects of its management. [ABSTRACT FROM AUTHOR]

New-onset refractory status epilepticus (NORSE) is defined as status epilepticus in a patient without active epilepsy or other preexist--ing relevant neurological disorder. It is characterized by refractory epileptic seizures, without a clear active structural, toxic, or metabolic cause. In most cases, the dis-ease is preceded by mild febrile il-lnes-s. Very frequently, the ethiology of NORSE can not be proven (cryptogenic NORSE). In a minority of cases is causal autoim-mune encephalitis and viral infection of CNS. Conventional antiepileptic medications show very limited succes-s. Ther-apy includes im-munother-apy, ketogenic diet or another non pharmacological options. The long-term prognosis of patients is variable, in most cases cognitive impairments and epilepsy are present. The authors declare they have no potential conflicts of interest concerning drugs, products, or services used in the study. The Editorial Board declares that the manu-script met the ICMJE "uniform requirements" for biomedical papers. [ABSTRACT FROM AUTHOR]

Aim: The aim of the study was to perform an audit of pediatric patients with pharmacoresistant epilepsy who were observed on a long-term basis at our department and to select candidates who are potentially eligible for non-pharmacological therapy (epileptosurgery, ketogenic diet or its modification). Methods: This is a retrospective study evaluating medical records of 129 patients (aged 0-19 years) with refractory epilepsy examined at the Department of Pediatric Neurology from January 2014 to January 2015. Based on the type of seizures, epilepsy, etiology, MRI and brain PET findings, physicians recommended an educational interview concerning non-medication therapy or indicated that anti-epileptic drugs shall be continued. In the second group of patients, the reason why non-pharmacological therapy is not appropriate was given. Mathematical data analysis was performed. Results: Out of 129 refractory patients, 47 (36.4%) were indicated for the educational interview by at least one physician and 39 (30.2%) patients were indicated by two physicians. Out of 39 children, resection was considered in 15 patients, a disconnection procedure in 1, vagus nerve stimulation implantation in 31 and ketogenic diet in 26 patients. In 82 children (63.6%), the interview was not indicated. Conclusion: Patients with pharmacoresistant epilepsy who have seizures were identified at our department and eligible candidates were directed to an educational interview concerning non-pharmacological therapy. The study is to be followed with a prospective part where a specific therapeutic procedure will be implemented. [ABSTRACT FROM AUTHOR]

Copyright of Česká a Slovenská Neurologie a Neurochirurgie is the property of Czech Medical Association of JE Purkyne and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Introduction: Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder characterized by impairments in communication, social interaction, and repetitive behavior. The declaration of the COVID-19 pandemic in March 2020 resulted in significant changes in daily life due to restrictive measures. This period posed particular challenges for families with children living with autism, given the limitations in medical care and social services., Objective: This study aimed to understand how families with autistic children perceive stress during the pandemic and the coping strategies employed in unexpected situations., Method: A total of 44 families with children with ASD and 300 control families, including 44 control families in a matched subsample, were included in the study. To assess stress and parental coping with COVID-19-related stress, the Responses to Stress Questionnaire (Adult Self-Report RSQ-COVID-19) was utilized., Results: Caregivers of autistic children experienced significantly higher stress levels (p = .027, d = 0.479) during the pandemic, with notable stressors such as limited access to medical care and challenges associated with remote work. Despite expectations, coping strategy differences were not statistically significant., Conclusion: Families and supporters of children with autism naturally encounter various experiences and challenges stemming from their additional needs. Our study's results highlight an accentuation of stress during challenging situations. As these situations may recur in the future, there is a need to design and implement support plans for these families, appropriate intervention programs, and preparations for the utilization of telemedicine tools., Competing Interests: The authors have declared that no competing interests exist., (Copyright: © 2024 Knedlíková et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.)

The COVID-19 pandemic revealed the need to develop the field of remote assessment for autism spectrum disorders (ASD). The purpose of the study was to evaluate an online assessment protocol that includes the Brief Observation of Symptoms of Autism (BOSA). The online protocol consisting of BOSA and the Autism Diagnostic Interview-Revised (ADI-R) was administered by experienced examiners to 29 children with suspected ASD. The participants were then evaluated by clinical psychologists in a standard clinical setting using the Autism Diagnostic Observation Schedule-2 (ADOS-2) and other methods, and the ASD diagnosis was confirmed or ruled out. The results show substantial to moderate inter-rater agreement between the online and face-to-face raters with the value of Cohen's Kappa = 0.66 (P < 0.001); this corresponds with 79.8% agreement. The sensitivity of the protocol was approx. 94.7%, the specificity was 70%, the positive predictive value was 85.7%, and the negative predictive value was 87.5%. Further, direct false positive or false negative diagnostic conclusions based on the online protocol were absent when the possible conclusion of "I cannot decide" was included. The items B9 Showing, B10 Spontaneous Initiation of Joint Attention, B1 Unusual Eye Contact, B3 Facial Expressions Directed to Others, and C2 Imagination/Creativity were shown to be well observable in BOSA when related to ADOS-2 scoring. The results indicate that the protocol consisting of BOSA and ADI-R administered by an experienced examiner is a promising combination of tools for remote autism assessment., (© 2024. The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature.)

In 2022/2023, Europe experienced its third consecutive season of high-pathogenicity avian influenza. During this period, the Czech Republic was again severely affected. For the first time, the number of culled birds approached one million, which was three times higher than in previous seasons. In parallel to the outbreaks in poultry, mass die-offs of gulls were also observed. In the present study, we performed whole-genome sequencing and phylogenetic analysis of 137 H5N1 strains collected in the Czech Republic in 2022/2023 (94.6% of all outbreaks or locations). The analysis revealed four distinct genotypes: AB, CH, BB and AF. Phylogenetic analysis suggested that the AF genotype persisted from the previous H5N1 season without reassortment. In addition, the genotype BB, which was detected mainly in gulls, showed a noticeable strain diversity at the local level. This virus was also responsible for a single outbreak in commercially bred turkeys. Finally, an interesting spatio-temporal cluster with three co-circulating H5N1 genotypes, AB, CH and AF, was identified with no evidence of intrasubtype reassortment. Highly sensitive molecular surveillance and the timely sharing of genomic sequences and associated metadata could greatly assist in tracking the spread and detecting molecular changes associated with the increased virulence of this potentially zoonotic pathogen.

Objective: We analyzed trends in patients' characteristics, outcomes, and waiting times over the last 25 years at our epilepsy surgery center situated in Central Europe to highlight possible areas of improvement in our care for patients with drug-resistant epilepsy., Methods: A total of 704 patients who underwent surgery at the Brno Epilepsy Center were included in the study, 71 of those were children. Patients were separated into three time periods, 1996-2000 (n = 95), 2001-2010 (n = 295) and 2011-2022 (n = 314) based on first evaluation at the center., Results: The average duration of epilepsy before surgery in adults remained high over the last 25 years (20.1 years from 1996 to 2000, 21.3 from 2001 to 2010, and 21.3 from 2011 to 2020, P = 0.718). There has been a decrease in rate of surgeries for temporal lobe epilepsy in the most recent time period (67%-70%-52%, P < 0.001). Correspondingly, extratemporal resections have become more frequent with a significant increase in surgeries for focal cortical dysplasia (2%-8%-19%, P < 0.001). For resections, better outcomes (ILAE scores 1a-2) have been achieved in extratemporal lesional (0%-21%-61%, P = 0.01, at least 2-year follow-up) patients. In temporal lesional patients, outcomes remained unchanged (at least 77% success rate). A longer duration of epilepsy predicted a less favorable outcome for resective procedures (P = 0.024) in patients with disease duration of less than 25 years., Significance: The spectrum of epilepsy surgery is shifting toward nonlesional and extratemporal cases. While success rates of extratemporal resections at our center are getting better, the average duration of epilepsy before surgical intervention is still very long and is not improving. This underscores the need for stronger collaboration between epileptologists and outpatient neurologists to ensure prompt and effective treatment for patients with drug-resistant epilepsy., (© 2023 The Authors. Epilepsia Open published by Wiley Periodicals LLC on behalf of International League Against Epilepsy.)

The key part of creating bone material for teaching is degreasing and whitening it. However, the substances used are often dangerous and toxic. We tested and compared safer methods based on two physical variables. These are light and heat. The material for our study was 45 femurs from 23 adult domestic dogs ( Canis lupus f. familiaris ). The bones were divided into three groups of 15 pieces according to the method used to remove muscles and ligaments from their surface. Five femurs from each group were exposed to three different light sources for 28 days-sunlight, warm light from a classical incandescent light bulb and cold light by a LED bulb. At regular intervals, the change in the colour of the bone surface and the amount of fat loss from the medullary cavity was also monitored. The best degreasing and bleaching results were achieved in macerated bones exposed to sunlight. They achieved the required condition as early as 21 days after the start of sun exposure. The biggest problem was haemoglobin, which permeated through the Haversian canals and discoloured the bone tissue. The results showed that the use of light and heat is a suitable and safe alternative to chemical methods of degreasing and bleaching bones. The disadvantage is the length of time, especially for native material., Competing Interests: The authors declare that they have no competing interests., (© 2022 Horák et al.)

This work presents a case series of four children diagnosed with severe cerebrovascular disease in association with recent severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, yet no patient from the group met typical diagnostic criteria for multisystem inflammatory syndrome in children. Our aim was to highlight the possible vascular involvement and coagulopathies associated with SARS-CoV-2 infection in the pediatric population. Further data are needed to better understand the pathophysiological basis of this condition in children and to ensure its optimal management., (Copyright © 2022 Elsevier Inc. All rights reserved.)

To understand which morphological/anatomical parts may be responsible in artiodactyl ungulates for the clicking sound made when moving, this research focuses on the forelimb tendon apparatus where an undescribed opening in the fibrous cuff (manica flexoria), called hereafter for its shape as an "oval window" in the manica flexoria (OWMF), was detected. This oval window was found in 24 of the 25 species of four families (Camelidae, Giraffidae, Cervidae, and Bovidae) evaluated; the exception being in Bos taurus taurus (Domestic cattle). The length and width of the OWMF enabled correct species discrimination between the majority of species, but remained conservative intraspecifically, as it did not differ between the left and right side of the forelimb, third and fourth digits, or between sexes. When evaluating the shape of OWMF in individual species, and measuring its length and width, 18 out of the 24 species investigated had this window as an oval shape, the remaining 25% of species exhibited more oval-oblong shapes with either proximal or distal asymmetry. The function of the OWMF in the thoracic autopodium of most ruminant even-toed ungulates is not yet fully understood. Its most likely function is to help balance the pressure inside the ligament cuff and reduce the friction of the touching surfaces of the muscle tendons-thus facilitating the movement of the digits when walking. None of the absolute or relative OWMF parameters fit exclusively with the occurrence and distribution of knee-clicks produced by some bovids and cervids during movement, so the mechanism responsible for this sound remains cryptic from the present anatomical perspective., (© 2022. The Author(s).)

Aim: The primary goal was to determine the yield of next-generation sequencing (NGS) epilepsy gene panels used for epilepsy etiology diagnosing using a multidisciplinary approach and to demonstrate the importance of genotype-phenotype correlations. The secondary goal was to evaluate the application of precision medicine in selected patients., Methods: This single-center retrospective study included a total of 175 patients (95 males and 80 females) aged 0-19 years. They were examined between 2015 and 2020 using an NGS epilepsy gene panel (270 genes). A bioinformatic analysis was performed including copy number variation identification. Thorough genotype-phenotype correlation was performed., Results: Out of 175 patients, described pathogenic variants or novel variants with clear pathogenic impact were identified in 30 patients (17.14%). Genotype-phenotype correlations and parental DNA analysis were performed, and genetic diagnosis was confirmed on the basis of the results in another 16 out of 175 patients (9.14%). The diagnostic yield of our study increased from 30 to 46 patients (by 53.33%) by the precise genotype-phenotype correlation., Interpretation: We emphasize a complex genotype-phenotype correlation and a multidisciplinary approach in evaluating the results of the NGS epilepsy gene panel, which enables the most accurate genetic diagnosis and correct interpretation of results., (Copyright © 2022 Elsevier Inc. All rights reserved.)

The clinical course of the SARS-CoV-2 virus infection (COVID-19 disease) in paediatric patients is predominantly mild. However, in a small percentage of paediatric patients, the COVID-19 could lead to the development of with the Paediatric Inflammatory Multisystem Syndrome (PIMS) presenting as high fever, gastrointestinal symptoms, neurological symptomatology and even as multiorgan dysfunction. These three cases represent the first published report of critically ill paediatric patients with PIMS in the Czech Republic.

We present the case report of an unvaccinated Czech child with tetanus. The child had not received any vaccines due to its parent's refusal. The disease originated from the wound in the nose caused by a small flat battery. The typical onset of tetanus followed after two weeks, rapidly progressing to respiratory failure with the need for mechanic ventilation despite intensive treatment. The child spent five weeks in the hospital. Mild long-term sequelae persisted 5 months.

Acute Ischemic Stroke (AIS) in children is an acute neurologic emergency associated with significant morbidity and mortality. Although the incidence of AIS in pediatric patients is considerably lower than in adults, the overall cumulative negative impact of the quality of life could be even higher in children. The age-related variable clinical presentation could result in a delay in diagnosis and could negatively influence the overall outcome. The early management should be based on early recognition, acute transfer to pediatric AIS centre, standardised approach (ABCDE), early neurologic examination together with neuroimaging (preferable Magnetic Resonance Imaging-MRI). The treatment is based on supportive therapy (normoxemia, normocapnia, normotension and normoglycemia) in combination with intravenous/intraarterial thrombolytic therapy and/or mechanical thrombectomy in selected cases. Pediatric stroke centres, together with the implementation of local stroke management protocols, could further improve the outcome of pediatric patients with AIS.

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., (Copyright © 2019 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.)

Periodic heart rate fluctuation depends on the oscillation of sympathetic and vagal activation of the heart. Periodic retardation and acceleration of heart rate related to respiration and to blood pressure changes can be registered on the ECG as the "variability of R-R intervals". Testing procedures of the variability of R-R intervals at rest, during deep breathing, daily activities, during exercise and other stress tests are described in the paper. For the evaluation of the R-R interval's variability, current statistical methods are used (e.g. mean with standard deviation, variation coefficient, mean beat to beat differences in R-R intervals etc.). Power spectral analysis in the variability of 200-600 successive R-R intervals commonly performed today uses either rapid Fourier transformation or the autoregulation model. The analysis shows high- and low frequency peaks corresponding to the rapid and slow oscillations in heart rate. Evaluation of the R-R interval variability, especially using power spectrum analysis, gave good results in testing drugs, e.g., beta blockers, calcium antagonists and antiarrhythmic drugs. Variability of R-R intervals is reduced in conditions affecting the cardiac autonomous nervous system such as diabetes. It is also decreased in patients with ischaemic heart disease and in those with cardiac failure of different aetiology. The decrease is not an expression of the disease itself: it shows an alteration in neurovegetative tonicity in the particular disease condition. The decreased variability of R-R intervals in patients with ischaemic heart disease has an important prognostic value. The predominance of the sympathetic over the depressed vagal activity signalizes an increased risk of sudden coronary death.