Wrodzony przerost nadnerczy z niedoboru 21-hydroksylazy - problemy i postępowanie u dorosłych

Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is one of the most common autosomal recessive hereditary diseases. The impairment of cortisol synthesis leads to excessive stimulation of the adrenal glands by adrenocorticotropic hormone (ACTH), adrenal hyperplasia, and excessive androgen synthesis. The syndrome is characterised by a considerable correlation between the genotype and the phenotype with the type of CYP21A2 gene mutation affecting the severity of 21-hydroxylase deficiency. The clinical manifestations of CAH in adults result from adrenocortical and adrenomedullary insufficiency, hyperandrogenism, and the adverse effects of glucocorticosteroids used for the treatment of the condition. Non-classic CAH may sometimes be asymptomatic. In patients with classic CAH obesity, hyperinsulinaemia, insulin resistance, and hyperleptinaemia are more often seen than in the general population. These abnormalities promote the development of metabolic syndrome and its sequelae, including endothelial dysfunction, and cardiovascular disease. Long-term glucocorticosteroid treatment is also a known risk factor for osteoporosis. Patients with CAH require constant monitoring of biochemical parameters (17a-hydroxyprogesterone [17-OHP] and androstenedione), clinical parameters (body mass, waist circumference, blood pressure, glucose, and lipids), and bone mineral density by densitometry. The principal goal of treatment in adults with CAH is to improve quality of life, ensure that they remain fertile, reduce the manifestations of hyperandrogenisation in females, and minimise the adverse effects of glucocorticosteroid treatment. Patients with classic CAH require treatment with glucocorticosteroids and, in cases of salt wasting, also with a mineralocorticosteroid. Radical measures, such as bilateral adrenalectomy, are very rarely needed. Asymptomatic patients with non-classic CAH require monitoring: treatment is not always necessary. Medical care for patients with CAH should be provided by reference centres, as the management of such patients requires collaboration between an endocrinologist, diabetologist, gynaecologist, andrologist, urologist, and psychologist.Wrodzony przerost nadnerczy (CAH, congenital adrenal hyperplasia) z niedoboru 21-hydroksylazy jest jedną z najczęstszych chorób dziedziczonych w sposób autosomalny recesywny. Upośledzenie syntezy kortyzolu doprowadza do nadmiernej stymulacji nadnerczy przez ACTH, przerostu nadnerczy i nadmiernej syntezy androgenów. Zespół ten cechuje się dużą korelacją pomiędzy genotypem i fenotypem - rodzaj mutacji genu CYP21A2 wpływa na stopień niedoboru 21-hydroksylazy. Objawy kliniczne w klasycznych postaciach CAH u dorosłych wynikają z: niedoczynności kory i rdzenia nadnerczy, hiperandrogenizmu oraz działań ubocznych stosowanych w leczeniu glikokortykosteroidów. Postać nieklasyczna może czasem przebiegać bezobjawowo. U pacjentów z klasyczną postacią CAH częściej niż w normalnej populacji stwierdza się otyłość, hiperinsulinizm i insulinooporność oraz hiperleptynemię. Nieprawidłowości te sprzyjają rozwojowi zespołu metabolicznego i jego konsekwencjom, w tym dysfunkcji śródbłonka i rozwojowi chorób sercowo-naczyniowych. Przewlekłe leczenie glikokortykosteroidami jest także znanym czynnikiem ryzyka rozwoju osteoporozy. Chorzy z CAH wymagają stałego monitorowania zarówno parametrów biochemicznych (17-OHP i androstendionu), jak i klinicznych (kontrola masy ciała, pomiary obwodu talii, ciśnienia tętniczego, glikemii, lipidogramu) oraz densytometrycznej oceny gęstości mineralnej kości. Podstawowym celem leczenia dorosłych chorych z CAH jest poprawa jakości życia, zapewnienie płodności, zmniejszenie objawów hiperandrogenizacji u kobiet oraz minimalizacja objawów niepożądanych glikokortykosteroidoterapii. Pacjenci z postacią klasyczną wymagają leczenia glikokortykosteroidami, a w przypadkach przebiegających z utratą soli także mineralokortykosteroidem. Niezwykle rzadko konieczne jest zastosowanie radykalnego postępowania, jakim jest obustronna adrenalektomia. Pacjenci z postacią nieklasyczną, z brakiem objawów klinicznych wymagają obserwacji, leczenie natomiast nie zawsze jest konieczne. Opieka nad dorosłymi chorymi z CAH powinna być prowadzona w ośrodkach referencyjnych, ponieważ wymaga współpracy endokrynologa, diabetologa, ginekologa, androloga, urologa i psychologa. (Endokrynol Pol 2010; 61 (1): 142-155

Decoding working memory-related information from repeated psychophysiological EEG experiments using convolutional and contrastive neural networks

Objective. Extracting reliable information from electroencephalogram (EEG) is difficult because the low signal-to-noise ratio and significant intersubject variability seriously hinder statistical analyses. However, recent advances in explainable machine learning open a new strategy to address this problem. Approach. The current study evaluates this approach using results from the classification and decoding of electrical brain activity associated with information retention. We designed four neural network models differing in architecture, training strategies, and input representation to classify single experimental trials of a working memory task. Main results. Our best models achieved an accuracy (ACC) of 65.29 ± 0.76 and Matthews correlation coefficient of 0.288 ± 0.018, outperforming the reference model trained on the same data. The highest correlation between classification score and behavioral performance was 0.36 (p = 0.0007). Using analysis of input perturbation, we estimated the importance of EEG channels and frequency bands in the task at hand. The set of essential features identified for each network varies. We identified a subset of features common to all models that identified brain regions and frequency bands consistent with current neurophysiological knowledge of the processes critical to attention and working memory. Finally, we proposed sanity checks to examine further the robustness of each model's set of features. Significance. Our results indicate that explainable deep learning is a powerful tool for decoding information from EEG signals. It is crucial to train and analyze a range of models to identify stable and reliable features. Our results highlight the need for explainable modeling as the model with the highest ACC appeared to use residual artifactual activity

Multi-Regional Adaptation in Human Auditory Association Cortex

In auditory cortex, neural responses decrease with stimulus repetition, known as adaptation. Adaptation is thought to facilitate detection of novel sounds and improve perception in noisy environments. Although it is well established that adaptation occurs in primary auditory cortex, it is not known whether adaptation also occurs in higher auditory areas involved in processing complex sounds, such as speech. Resolving this issue is important for understanding the neural bases of adaptation and to avoid potential post-operative deficits after temporal lobe surgery for treatment of focal epilepsy. Intracranial electrocorticographic recordings were acquired simultaneously from electrodes implanted in primary and association auditory areas of the right (non-dominant) temporal lobe in a patient with complex partial seizures originating from the inferior parietal lobe. Simple and complex sounds were presented in a passive oddball paradigm. We measured changes in single-trial high-gamma power (70–150 Hz) and in regional and inter-regional network-level activity indexed by cross-frequency coupling. Repetitive tones elicited the greatest adaptation and corresponding increases in cross-frequency coupling in primary auditory cortex. Conversely, auditory association cortex showed stronger adaptation for complex sounds, including speech. This first report of multi-regional adaptation in human auditory cortex highlights the role of the non-dominant temporal lobe in suppressing neural responses to repetitive background sounds (noise). These results underscore the clinical utility of functional mapping to avoid potential post-operative deficits including increased listening difficulties in noisy, real-world environments

Statistical Analysis of Sleep Spindle Occurrences

Spindles - a hallmark of stage II sleep - are a transient oscillatory phenomenon in the EEG believed to reflect thalamocortical activity contributing to unresponsiveness during sleep. Currently spindles are often classified into two classes: fast spindles, with a frequency of around 14 Hz, occurring in the centro-parietal region; and slow spindles, with a frequency of around 12 Hz, prevalent in the frontal region. Here we aim to establish whether the spindle generation process also exhibits spatial heterogeneity. Electroencephalographic recordings from 20 subjects were automatically scanned to detect spindles and the time occurrences of spindles were used for statistical analysis. Gamma distribution parameters were fit to each inter-spindle interval distribution, and a modified Wald-Wolfowitz lag-1 correlation test was applied. Results indicate that not all spindles are generated by the same statistical process, but this dissociation is not spindle-type specific. Although this dissociation is not topographically specific, a single generator for all spindle types appears unlikely

Physico-geographical mesoregions of Poland : verification and adjustment of boundaries on the basis of contemporary spatial data

The programme of identification, cataloguing and evaluation of Polish landscapes, part of the implementation of the European Landscape Convention, has caused an increase in interest in physico-geographical regionalisation over recent years. The commonly accepted regionalisation of Poland developed by J. Kondracki (Kondracki & Richling 1994) is sufficient for work at an overview scale (e.g. 1:500,000), whereas its spatial accuracy is too low to make use of it for the purpose of Polish landscape cataloguing. The aim of this article is to present a more up-to-date and detailed division of Poland into mesoregions, adjusted to the 1:50,000 scale. In comparison with older work, the number of mesoregions has increased from 316 to 344. In many cases, some far-reaching changes in meso- and macroregions were made. Nevertheless, in most cases the previous system of units was maintained, with more detailed adjustment of boundaries based on the latest geological and geomorphological data and the use of GIS tools for the DEM analysis. The division presented here is a creatively developing new work aligning the proposals of the majority of Polish researchers. At the same time, it is a regionalisation maintaining the idea of the work developed by J. Kondracki as well as his theoretical assumptions and the criteria used to distinguish units, which makes it a logical continuation of his regional division

Oferta polskich bibliotek naukowych w zakresie otwartych zasobów wiedzy

[Open resources of knowledge – the offer of Polish research libraries] Scientific knowledge is distributed by numerous institutions (including government institutions, publishers, libraries) and authors themselves. Open knowledge resources increase the availability of materials sought by users and enable access to publications that otherwise would be hard to get, from any place and in almost no time. They improve the quality of education, including remote education as well as enable presenting and promoting scientific achievements of Polish scientists in the world. The development of the concept of open knowledge implies a new position of scientific libraries that go between authors and recipients of the knowledge published. Libraries not only gather, store and distribute scientific resources but also provide proper tools that allow access to local and remote knowledge sources both for authors and users. Open resources play increasing role in teaching processes and scientific research run in colleges and universities. Thus academic libraries get involved actively in creating open resources and their distribution (e.g. digital libraries, repositories), as well as in promoting the idea of Open Access in academic environment. In this respect, the review of the open knowledge (full text, bibliographic and abstract databases, digital libraries, portals etc.) on the web sites of libraries is an attempt to answer the question how Polish scientific libraries get involved in popularization of open knowledge resources. The authors present size and variety of free resources offered by academic libraries and means of their. The research run in the first quarter of 2011 covered scientific libraries of public technical and economical universities in Poland

Impact of „Lepsze Regulacje 2015” program on regulatory risk level

The article presents the guidelines of the reform the regulatory system in Poland, concerning both the creation of new law and simplifying already binding. Objectives and task of this reform are included in the program entitled: „Lepsze Regulacje 2015”. Its implementation should contribute to the improvement of the legislative process, so that the result of this process was consistent, stable and efficient law. Achieving this goal will reduce regulatory risk and thus create more favorable conditions for the development of enterprises. The focus element of the program is system of regulatory impact control, whose task is comparing the costs and benefits of various regulatory options, and on this basis choosing the most efficient variant of the law act. This system permits the identification of opportunities and menaces carried by the new regulation, which provides the basis for the analysis of regulatory risk.Udostępnienie publikacji Wydawnictwa Uniwersytetu Łódzkiego finansowane w ramach projektu „Doskonałość naukowa kluczem do doskonałości kształcenia”. Projekt realizowany jest ze środków Europejskiego Funduszu Społecznego w ramach Programu Operacyjnego Wiedza Edukacja Rozwój; nr umowy: POWER.03.05.00-00-Z092/17-00

Risk management as a factor of enterprise value creation

Recent economic crisis has brought on criticism of many theoretical concepts, including the idea of Value Based Management (VBM). The motivation to maximize the value created a strong incentive for shareholders to increase the pressure on the efficiency of invested capital. Therefore, enterprises chose an aggressive asset management strategy, leading to risk increase. To reduce these negative effects, risk management should be located at the top position among VBM priorities. The paper is dedicated to methods and procedures used in the silo and integrated risk management. It also shows how the implementation of these systems has the impact on the enterprise value creation. The analysis shows that the integrated risk management can be considered as a factor of value creation, while the silo management contributes only protection of that value.Udostępnienie publikacji Wydawnictwa Uniwersytetu Łódzkiego finansowane w ramach projektu „Doskonałość naukowa kluczem do doskonałości kształcenia”. Projekt realizowany jest ze środków Europejskiego Funduszu Społecznego w ramach Programu Operacyjnego Wiedza Edukacja Rozwój; nr umowy: POWER.03.05.00-00-Z092/17-00

The Role of a Fundamental Analysis during Economic Crisis

The aim of this study was to answer the question whether the fundamental analysis is useful in evaluation the profitability of investing in the capital market during the economic crisis. This method is bused on a multi-step analytical process to estimate the intrinsic value of the shares. A comparison of this value to the current market price of shares shows whether they are over or underestimated by the market. The paper presents the scope of work required on the each stage of fundamental analysis. However, the key role plays the final stage, the valuation of a corporate income, because the crisis has had a negative impact on reliable estimations of the intrinsic value of the shares