Both non-epileptic sleep disturbances and epilepsy are common in patients with mucopolysaccharidoses (MPS), so diagnosis of sleep-related hypermotor epilepsy in these patients is a tackling issue. We ...present a case of an adult patient with MPS IIIB (Sanfilippo syndrome), who presented with numerous nocturnal events of sudden awakening and hypermotor behavior, which had been previously regarded as parasomnias. Overnight video-EEG captured numerous stereotypical seizures with ictal pattern in the frontal regions, which led the diagnosis of SHE. The patient was started with carbamazepine, which resulted in a substantial reduction in the number of seizures. Our report provides further support for use of overnight video-EEG in the differential diagnosis of sleep-related disorders in MPS, yet true incidence of SHE in MPS patients remains unknown.
Recent research in the field of business management shows that the problems of the company's employees are closely related to the problems of the company itself. The efficiency of a company, in ...general and the efficiency of its employees, in particular directly depend on the well-being of staff. On the way to achieving sustainable development goals, the role of gender equality in companies is growing. The article considers gender aspects of the concept of well-being at the workplace as an integrated approach to corporate management, focused on achieving sustainable development goals. The article is aimed at substantiating gender equality as the basis for the well-being of the company's employees. To fulfil this task, direct connection between the sustainable development of a company and the well-being of its employees was identified. Sustainable development is understood as economic growth that does not harm the environment and contributes to the resolution of social problems, finding a balance between economic, environmental and social development. The sustainable development of a company is based on the principle of responsible business conduct and innovative potential, thus opening up new business opportunities for economic growth, as well as environmental and social well-being. Digital and non-digital components of staff well-being are singled out. Non-digital components of well-being are mental well-being, physical well-being, social well-being, and financial well-being. Facing current digital transformation, we propose to supplement this list with the digital well-being of staff. It is substantiated that gender equality is one of the elements of the staff well-being programs. The key gender issues in labour relations are analyzed. These issues are clearly expressed in access to work, professional growth and promotion, and most of all in the representation of women at different levels of management. Having compared the leadership style of women and men and their behaviour in a company, the authors come to conclusion that the staff efficiency is determined by a set of professional knowledge and skills, not gender. The principles of achieving gender equality are systematized and characterized within the concept of well-being at the workplace, and the problems of implementing such an approach are identified.
In recent years, epigenetic mechanisms have been implicated in the development of multifactorial diseases including neurodegenerative disorders. In Parkinson's disease (PD), as a synucleinopathy, ...most studies focused on DNA methylation of
gene coding alpha-synuclein but obtained results were rather contradictory. In another neurodegenerative synucleinopathy, multiple system atrophy (MSA), very few studies investigated the epigenetic regulation. This study included patients with PD (n = 82), patients with MSA (n = 24), and a control group (n = 50). In three groups, methylation levels of CpG and non-CpG sites in regulatory regions of the
gene were analyzed. We revealed hypomethylation of CpG sites in the
intron 1 in PD and hypermethylation of predominantly non-CpG sites in the
promoter region in MSA. In PD patients, hypomethylation in the intron 1 was associated with earlier age at the disease onset. In MSA patients, hypermethylation in the promotor was associated with shorter disease duration (before examination). These results showed different patterns of the epigenetic regulation in two synucleinopathies-PD and MSA.
Neurodegeneration in Parkinsons disease is characterized by the accumulation of alpha-synuclein, aprotein encoded by theSNCAgene, in neurons. In addition to mutations, many polymorphisms have been ...identified in this gene, and one of theseis a dinucleotide microsatellite:SNCA-Rep1.The mechanisms by which specific configurations ofSNCA-Rep1 may contribute to the development of this disease have yet to be clarified. Inour study, a relationship between longSNCA-Rep1 alleles and Parkinsons was confirmed in the Russian population. Long allelic variants ofSNCA-Rep1 were shown to be associated with the hypomethylation of the CpG-sites in intron 1 of theSNCAgene. Long variants ofSNCA-Rep1 are supposed to exert their effect through the hypomethylation of atranscriptionally significant region of this gene. Hypomethylation is usually associated with increased expression, which, in turn, contributes to alpha-synuclein accumulation in neuronal cytoplasm, with the latter being the main molecular marker of Parkinsons disease. Further studies are needed to establish a relationship between our finding andSNCAgene expression.
The laterally spreading colon tumors (LST) constitute a kind of flat superficial neoplasia, which may cause colorectal cancer. There was studied the efficacy of colonoscopy and chromoscopy, using ...indigocarmine and acetic acid in the LST diagnosis in 897 patients. In 85 (9.5%) patients, suffering adenoma 113 LST were revealed, including 84 (74.3%) of a nongranular type (LST - NG), 29 (25.7%)--of granular type (LST - G). The diameter of LST was from 10 to 120 mm, 19.6 mm at average. Tubular adenoma was diagnosed in 67 (59%) observations, the dentate one--in 24 (21%), papillary--in 12 (11%), papillary-tubular--in 10 (9%).
First experience and results with the LHCb Silicon Tracker Fave, V.; Bay, A.; Blanc, F. ...
Nuclear instruments & methods in physics research. Section A, Accelerators, spectrometers, detectors and associated equipment,
05/2010, Letnik:
617, Številka:
1
Journal Article
Recenzirano
The LHCb experiment is designed to perform high-precision measurements of CP violation and rare decays of b hadrons. The construction and installation of the Silicon Tracker (ST) was completed by the ...summer of 2008. Here, we report on first results obtained using the data taken during injection tests (‘TED’ run) in August and September 2008.
LHCb Silicon Tracker DAQ and ECS Online Systems Esperante, Daniel; Rodriguez, P; Buchler, A ...
IEEE transactions on nuclear science,
2010-April, 2010-04-00, 20100401, Letnik:
57, Številka:
2
Journal Article
Recenzirano
The LHCb experiment at CERN is designed to perform precision measurements of b quark decays. The Silicon Tracker plays a crucial role in reconstructing particle trajectories and consists of two ...silicon micro-strip detectors, the Tracker Turicensis and the Inner Tracker. The radiation environment and the magnetic field represent new challenges for the implementation of the Experiment Control System (ECS) and the data acquisition (DAQ). The DAQ has to deal with ~272 000 analog read-out channels and real-time DAQ at a rate of ~ 1.1 MHz with data processing at the Trigger Electronics and L1 (TELL1) board level. The TELL1 real-time algorithms for clustering thresholds and other computations run on dedicated FPGAs. After data processing the total throughput amounts to about 6.4 GB from an input data rate of ~ 337 GB per second. The ECS is based on the hierarchical finite state machine paradigm and allows distributed control access and multi-platform use. The ECS is able to control and monitor the detector hardware infrastructure (power supplies, DAQ electronics ...) as well as monitor the environmental parameters. It can also take automated actions on warnings or alarms. Finally a completely independent, hardware based safety system ensures the detector safe operation.
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