Multifocal drug-resistant epilepsy in a patient with a newly discovered mutation in tuberous sclerosis complex 1 gene treated by deep brain stimulation in the anterior thalamic nucleus.

Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutations in the tumor suppressor genes TSC1 or TSC2. TSC is characterized by the formation of multiple tumors in various organs. The most common neurological manifestation of the disorder is epilepsy present in 79-90% of cases. At least one-third of TSC patients develop drug-resistant epilepsy (DRE) which remains a great challenge for clinicians. Neuromodulation is an option in cases of multifocal epilepsy, epilepsy originating in eloquent areas, or the inability to identify the ictal onset zone. Deep brain stimulation of the anterior thalamic nucleus (ANT-DBS) may be used in the treatment of multifocal DRE. Here, we present a case of a patient with multifocal DRE caused by TSC, who was treated with ANT-DBS. A follow-up period of eight months showed that the patient's multifocal DRE was successfully treated by ANT-DBS.

Deep brain stimulation in a patient with progressive myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). A case report and review of the literature.

Progressive myoclonic epilepsy (PME) is characterized by prominent myoclonus, generalized tonic-clonic seizures, and less often focal, tonic, or absence seizures. The KCNC1 mutation is responsible for specific clinical phenotype of PME which has been defined as myoclonic epilepsy and ataxia due to potassium channel mutation (MEAK). We present a case of a 44 years-old male patient with genetically proven MEAK who underwent subthalamic nucleus/substantia nigra (STN/SNr) deep brain stimulation (DBS) for his pharmacological-refractory myoclonus and drug-resistant epilepsy (DRE). Since the age of 4-5 years, the patient had been suffering from intention tremor, and later the myoclonic jerks, ataxia involving the upper limbs and walking difficulties worsened. The first bilateral tonic-clonic seizure (BTCS) occurred at the age of 22. The patient agreed to staged bilateral implantation of DBS electrodes placed in the STN/SNr region. The follow-up lasts more than 24 months. The myoclonic jerks assessed by Unified Myoclonus Rating Scale (UMRS) were reduced by nearly 70 % and BTCS was completely abolished. The patient's ataxia and dysarthria did not improve. Early diagnosis with genetic testing may significantly help in counseling patients with PME and enables to undertake the surgical approach targeting the STN/SNr.

Assessment and monitoring of soil and plant contamination with trace elements around Europe's largest copper ore tailings impoundment.

Europe's largest copper ore tailings impoundment has been considered a potential source of risk for human health, thus leading to the elimination of agricultural production in the surrounding area and its subsequent afforestation. The aim of this study was to analyse the level, spatial distribution and temporal changes in soil and edible plant contamination with trace elements around the impoundment, taking into account the local soil properties. The mean concentrations of Zn, Pb and As (31.5, 19.3 and 3.9 mg kg-1, respectively) were found to be higher than median values in soils of Poland, but they do not indicate soil pollution or enrichment when assessed using the relative geochemical index (Igeo) and enrichment factor (EF). The Cu concentration (mean 25.6 mg kg-1) was significantly higher than the median value for Polish soils, indicating moderate to high pollution/enrichment. A relationship between Cu concentration in topsoil and distance to the impoundment, in particular in its eastern forefield, indicates that this landfill site may be considered the source of soil contamination with Cu. However, both the mean and maximum concentrations of all elements under study, including Cu, were below the legal intervention levels. Long-term topsoil monitoring, although high data variability on permanent plots, has documented stable concentration or slow decrease of element concentration over a period 1995-2016. Cu and Zn concentrations in vegetables from home gardens do not differ from typical values in commercially available products, whereas higher than typical concentrations of Pb and As may result from other local sources of contamination. Low level and stable soil and plant contamination with trace metals justifies continuation of crop production and no need for the further conversion of arable lands into forests. The relatively little negative impact of the tailings impoundment, despite its large dimensions, results probably from implemented effective anti-emission measures.

Role of ß2-microglobulin in postoperative cognitive decline.

AIM: ß2-microglobulin (ß2M) was proved to affect hippocampal functions in mice. MATERIALS & METHODS: Seventy-one patients undergoing aortic valve replacement were analyzed in prospective observational study. Kidney biomarkers and Mini Mental State Examinations (MMSEs) were performed before procedure, at discharge and after 6 months. RESULTS: Patients with ß2M increase over the median change (>0.42 mg/l) experienced a significant in-hospital drop in MMSE (p = 0.005). Patients with ß2M increase over the median change also failed to improve a delayed-word-recall domain of the test (p = 0.826) while patients with a lower increase improved results in the domain (p = 0.004). After 6 months, MMSE improvement was associated with a significant decrease in ß2M (p = 0.042). CONCLUSION: These are the first in man data demonstrating relation between changes in cognition and ß2M. The phenomenon was reversible which indicates its therapeutic potential.

[F-wave amplitude in peripheral nervous system lesions]. / Amplituda fali F w uszkodzeniach obwodowego ukladu nerwowego.

BACKGROUND AND PURPOSE: F-wave is a late response recorded from muscle elicited by electric impulse conveyed antidromically to alpha-motor neurons of the spinal cord. F-wave latency and frequency are assessed in routine electroneurography providing information of conduction in the proximal segment of the nerves. F-wave amplitude is rarely analyzed, while it could add valuable information on excitability of motor neurons in different disease states. This study was conducted to determine whether F-wave amplitude is indicative of the level of the peripheral nervous system lesion. MATERIAL AND METHODS: EMG recordings of 204 consecutive patients suspected of peripheral nerves system lesion were retrospectively analyzed. Based on the clinical diagnosis three groups were defined: neuropathy (N=100), myopathy (N=33), ALS (N=18), reference (musculoskeletal pain syndromes: N=53). F-wave amplitude and F/CMAP-ratio (CMAP-compound motor action potential) and their relation to parameters of impulse conduction in motor nerve fibers was analyzed. RESULTS: Mean F/CMAP ratio was 11.1% in ALS, 5% in myopathy (p=0.008), 7.1% in neuropathies and 5.6% in the reference group. Giant F-wave (more than 10% of CMAP) was observed in 30% of nerves in ALS, 15% in neuropathy and 10% in myopathy (p=0.036). F-wave amplitude correlated significantly with CMAP amplitude in all groups, while F/CMAP ratio was inversely related to CMAP amplitude in ALS (r=-0.43, p<0.01) and neuropathy (r=-0.37, p<0.0001). F-wave frequency was similar in all groups and correlated with CMAP amplitude. CONCLUSIONS: F-wave amplitude is not indicative of the level of peripheral nervous system lesions. Giant F-wave is observed in neurogenic processes. It reflects an increase of motor unit size in the reinnervation process, but possibly also a change of excitability of motor neuron and its axon.