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Objectives: The main objective of this study was to determine whether infrared thermography could be used as an efficient technique to evaluate the impact of a birth-related brachial plexus injury on the temperature of the injured arm and whether it could be used as a complementary method when diagnosing this injury in clinical praxis., Background: Clinically, the brachial plexus injury is a peripheral paresis, which occurs when nerves that send signals from the spinal cord to the shoulder, arm, and hand are stretched or compressed. In principle, the brachial plexus injury, as a long-lasting injury, should be causing hypothermia of the injured arm., Methods: The usage of contactless infrared thermography could offer a "new view" of the diagnostic process in this case. The present study, therefore, describes a process of clinical infrared thermography examination of three patients of different age and presents results from those examinations., Results and Conclusion: From our results, it can be confirmed that the birth-related brachial plexus injury affects the temperature of the affected arm, especially in the area of the cubital fossa, to an extent that the thermal camera is capable of detecting significant temperature differences between the healthy and injured arms (Tab. 3, Fig. 7, Ref. 13). Text in PDF www.elis.sk Keywords: birth brachial plexus injury, upper type palsy, peripheral palsy, infrared thermography.

with the Dravet's syndrome phenotype are associated with the detection of a sequence variant in the SCN1A gene (alpha 1 subunit of the voltage-gated sodium channel) (2). However, sequence variants in the SCN1A gene are associated with a very broad clinical spectrum, from asymptomatic carriers to the severe myoclonic epilepsy phenotype with severe disease (3).In the presented work, we retrospectively evaluated a group of 6 patients of the Department of Pediatric Neurology of the Medical Faculty of Masaryk University and the University Hospital in Brno with a proven missense mutation. Based on the specific pathogenic sequence variant, we correlated the patient's phenotype with the location of the sequence variant in the SCN1A gene. The aim of the analysis was to verify the extent, to which the storage of a pathogenic sequence variant in the SCN1A gene corresponds to the clinical picture of the patient (Tab. 2, Fig. 2, Ref. 10). Keywords: Dravet's syndrome, sodium channel, functional analysis, prognosis.

Although many new antiseizure drugs have been developed in the past decade, approximately 30%-40% of patients remain pharmacoresistant. There are no clinical tools or guidelines for predicting therapeutic response in individual patients, leaving them no choice other than to try all antiseizure drugs available as they suffer debilitating seizures with no relief. The discovery of predictive biomarkers and early identification of pharmacoresistant patients is of the highest priority in this group. MicroRNAs (miRNAs), a class of short noncoding RNAs negatively regulating gene expression, have emerged in recent years in epilepsy, following a broader trend of their exploitation as biomarkers of various complex human diseases. We performed a systematic search of the PubMed database for original research articles focused on miRNA expression level profiling in patients with drug-resistant epilepsy or drug-resistant precilinical models and cell cultures. In this review, we summarize 17 publications concerning miRNAs as potential new biomarkers of resistance to antiseizure drugs and their potential role in the development of drug resistance or epilepsy. Although numerous knowledge gaps need to be filled and reviewed, and articles share some study design pitfalls, several miRNAs dysregulated in brain tissue and blood serum were identified independently by more than one paper. These results suggest a unique opportunity for disease monitoring and personalized therapeutic management in the future., (© 2021 International League Against Epilepsy.)

Background: Epidermolysis bullosa simplex associated with muscular dystrophy is a genetic skin disease caused by plectin deficiency. A case of a 19-year-old Czech patient affected with this disease and a review all previously published clinical cases are presented., Main Observations: In our patient, skin signs of the disease developed after birth. Bilateral ptosis at the age of 8 years was considered as the first specific symptom of muscular dystrophy. Since then, severe scoliosis, urological and psychiatric complication have quickly developed. The signs of plectin deficiency were found by histopathological studies, electron microscopy and antigen mapping of the skin and muscular samples. Two autosomal recessive mutations in the plectin gene leading to premature termination codon were disclosed by mutation analysis. By review of all published clinical cases, 49 patients with this disease were found. 54 different mutations in the plectin gene were published, p.(Arg2319*) in exon 31 being the most frequently found. Median age of muscular dystrophy development was 9.5 years. Hoarseness and respiratory complications were the most often complications beside skin involvement., Conclusion: Epidermolysis bullosa simplex with muscular dystrophy was diagnosed based on clinical, histopathological (skin and muscle biopsy) and mutation analysis of the plectin gene. Overview of the genetic and clinical characteristic of this disease could be presented by review of all previously published clinical cases.

Objective: To evaluate the safety and efficacy of pregabalin in the management of chemotherapy-induced neuropathic pain in patients with childhood solid tumors and leukaemia., Materials and Methods: In an open-label study, 30 children (11 boys and 19 girls; mean age 13.5 years) who were treated for solid tumors and leukaemia, and developed a painful peripheral neuropathy, were medicated with pregabalin in the daily dose of 150-300 mg for 8 weeks., Results: Twenty-eight patients completed the 8-week follow-up. A significant and long-lasting pain relief was noted in 86% of these patients. Median VAS score decreased by 59% at the 8th week from baseline. Adverse effects were infrequent and transient., Conclusion: The treatment with pregabalin resulted in a significant improvement in pain symptoms. The use of pregabalin in children is off-label so far. However, this drug seems to be a safe and effective remedy, which could significantly broaden the therapeutic spectrum in paediatric oncological patients suffering from neuropathic pain.

Smith-Lemli-Opitz syndrome is a rare hereditary autosomal recessive disease characterized by deficiency of 7-dehydrocholesterol reductase. Clinical picture encompasses prenatal and postnatal growth abnormalities and multisystemic structural malformations. To date, predisposition for tumor development is not considered a feature associated with this syndrome. Here, we describe a 16-year-old boy with Smith-Lemli-Opitz syndrome who developed cerebral germinoma. To our knowledge, this is the first report of association of this syndrome with malignant intracranial germ-cell tumor.

The aim of this study was to categorize speech problems in autistic children in a manner allowing recognition of associated risk factors. We were specifically interested in the role of epilepsy and epileptiform activity in EEG in autistic patients since these dynamic processes can influence each other. We combined subtypes of autism with degrees of their functionality and we selected three speech endpoints: i) delayed development of speech, ii) complete mutism and iii) regression of speech. We retrospectively examined 205 autistic children (boys 145/70.7%, mean age 10 years). Median IQ was 55 (15;104) and median Childhood Autism Rating Scale (CARS) ranged within 38 (32;48). Univariate and multivariate logistic regression helped to define clinical and diagnostic factors that were significantly associated with speech endpoints. Epileptic seizures, epileptiform EEG abnormalities, non-right-handedness, hypotonia and severe decreased IQ score were found to be the most important mutually independent factors contributing to the increased risk of speech-related problems in patients with ASD.