The spectrum of intermediate SCN8A-related epilepsy

Objective: Pathogenic variants in SCN8A have been associated with a wide spectrum of epilepsy phenotypes, ranging from benign familial infantile seizures (BFIS) to epileptic encephalopathies with variable severity. Furthermore, a few patients with intellectual disability (ID) or movement disorders without epilepsy have been reported. The vast majority of the published SCN8A patients suffer from severe developmental and epileptic encephalopathy (DEE). In this study, we aimed to provide further insight on the spectrum of milder SCN8A-related epilepsies. Methods: A cohort of 1095 patients were screened using a next generation sequencing panel. Further patients were ascertained from a network of epilepsy genetics clinics. Patients with severe DEE and BFIS were excluded from the study. Results: We found 36 probands who presented with an SCN8A-related epilepsy and normal intellect (33%) or mild (61%) to moderate ID (6%). All patients presented with epilepsy between age 1.5 months and 7 years (mean = 13.6 months), and 58% of these became seizure-free, two-thirds on monotherapy. Neurological disturbances included ataxia (28%) and hypotonia (19%) as the most prominent features. Interictal electroencephalogram was normal in 41%. Several recurrent variants were observed, including Ile763Val, Val891Met, Gly1475Arg, Gly1483Lys, Phe1588Leu, Arg1617Gln, Ala1650Val/Thr, Arg1872Gln, and Asn1877Ser. Significance: With this study, we explore the electroclinical features of an intermediate SCN8A-related epilepsy with mild cognitive impairment, which is for the majority a treatable epilepsy.Peer reviewe

Implementation of ecotourism guidelines in Warta Mouth National Park

Park Narodowy “Ujście Warty”, utworzony 1 lipca 2001 roku, obejmuje obszar 8074 hektarów unikatowych siedlisk zalewowych położonych w dolinie dolnej Warty. Na obszarze Parku zaobserwowano około 260 gatunków ptaków, a lęgi stwierdzono u ponad 170 z nich. Rola Parku dla zachowania środowiska życia tak wielu gatunków ptaków została potwierdzona poprzez objęcie jego terenów konwencją Ramsar oraz włączeniem do sieci Natura 2000. Niniejszy artykuł ma na celu przybliżenie podstawowych założeń ekoturystyki wraz ze wskazówkami dotyczącymi organizacji ruchu ekoturystycznego na terenach chronionych, a także omówienie realizacji powyższych zaleceń na terenie Parku Narodowego „Ujście Warty”. Szczególną uwagę zwrócono na materialne przejawy zagospodarowania turystycznego – infrastrukturę turystyczną i jej znaczenie w obsłudze ruchu turystycznego.Warta Mouth National Park was established on 1st July 2001 and covers 8074 hectares of unique wetland habitats situated in Lower Warta Valley. In the Park over 260 bird species have been observed, of which 170 are breeding species .As a confirmation of the role for nature conservation the Park has been included into Natura 2000 network and Ramsar convention. The aim of the article is to describe the basic guidelines of ecotourism including instructions concerning ecotourist traffic organization within the protected area and a discussion of its realization in Warta Mouth National Park. Special attention has been paid to material manifestation of touristic development i.e. touristic infrastructure and its meaning in touristic traffic service

The Town in the Landscape of the Duch Painting. The Topic and Imagery

The concept of town in the Middle Ages and its image in art have two vectors: sacred and lay. In the early medieval painting the meaning of the sacred town dominated, whereas along with the development of towns in the 13th century the town as a real urban and architectonic space gains its place in an ever more distinct shape. The beginnings of this process are shown in miniature painting that was originated in Paris studios, starting with Louis the Saint's Psalter. They are selected details of the town architecture, e.g. the Notre Dame Cathedral in Paris, and places that were important for the city, like the Seine, that constituted scenes of action that had a sacred character. The end of the 14th century, and especially illuminations by Master Marshal Boucikaut are an example of developed town structures submerged in a landscape reminding of native ones. Miniature painting of the turn of the 14th century is a preparation for the Dutch tabular painting of the 15th century with its mature town structures along with the adjacent area joined with the town by means of roads and moving people. These landscapes are not autonomous views of towns but they remain the place or background for narrative scenes, mostly sacred ones. In their multitude and variety the compositions make one undertake an attempt to work out their typology; hence the following composition groups have been identified: 1.Events presented indoors within a townRooms situated on the level of the landscape surrounding themRooms situated considerably higher than the landscape that can be seen 2.Events in an open landscape with the townEvents situated at the walls of the townEvents situated in suburban areas with a perspective of the distant town 3. Selected motifs as substitutes for the town 4. A real town uniting all the visions of the holy town The presented types of towns joined with sacred scenes on selected examples of Dutch painting put the question concerning the degree to which they are real as compared to the real towns as well as their symbolism that was expressed in the oriental or archaic architecture. The situation of towns in the Netherlands in the 15th century after the Hundred Years' War shows a developmental dynamics in its industry and social life. Owing to historical research tendencies may be recognised for combining small town structures into big organisms in order to strengthen their economic standing. This is shown in Jan van Eyck's and Roger van der Weyden's paintings. At the same time a significant role of the nobility can be noticed along with its life outside the town that is marked in the paintings by feudal type castles or suburban residences. The end of the 15th century brings limited visions of towns, as selected architectonic forms take over, which are substitutes for the town and point to a departure from painting whole urban structures

Some Reflections on the Portraits of Learned Humanists in the Renaissance Painting on the Example of the Portrait of Paracelsus in the Louvre

The problem of the portrait of the humanist has already been explained in formal terms as „a scholar in his study”, taking into consideration the significance of his bodily characteristics and the place in which he has been presented. Understood in this way the portrait becomes part of a series of portrait models explained within the type of a defined social group. Recent research into portrait in the Renaissance reveals that painters undertook attempts at showing also personality features of the presented people, and not only physical ones. Beginnings of such creation of figures have been pointed to, which are seen in the portraits of condottieres, whose physical strength was united with the inner strength of their character. Personalities of humanists also belong to this type. In the second half of the 15th century painters from Florence and Venice worked out a way of showing figures with inner strength. Landscape was harmonised with them in order to deepen the illusions sought for the models of the portrayed people. They may serve as comparison for the Louvre portrait of Paracelsus ascribed to Q. Massys, which is discussed in the present paper. The figure was shown in a way that integrates the man's fisis and psyche, in this way reproducing the real personality of the great doctor and humanist. The landscape is harmonised with the presented figure model; despite the illusion of uniformity it was de facto composed of many different topographic elements. It was intentionally composed as a spatial mosaic, so that the effects sought for the human figure could be brought out. Portraits painted against the background of landscape have their long tradition in the Dutch painting, starting with Jan van Eyck. However, the painters belonging to the later Antwerp school of the first quarter of the 16th century took up the problem again, accepting the character of landscape as an element that is integral with the figure of the portrayed humanist. Models for this type of painting were taken from Italian portraits they knew from their immediate experience. Painters more and more often crossed the Alps, consciously looking for inspiration there. Jan Scorel belonged to these painters. His paths of creative penetration followed traces of Paracelsus' life and work until the artist started work in Rome, at the court of his friend from Utrecht – Hadian VI. The portrait of Paracelsus shows the painter's knowledge of the art of the portrait as physical creation combined with attempts at rendering his inner personality. The type of landscape also has the features of southern painting, especially Tuscanian, which to a considerable degree introduced toposes of the ideal landscape with features of idyll inspired by poetical texts. The portrait of Paracelsus fits the rich tradition of „scholar against the background of landscape”, creating a harmony of the personality and the ideal place described in ancient texts. The Antwerpian humanism not only sought formal patterns for solving artistic problems, but it penetrated deeper connections with Italian humanism in literature, which was analysed in the work by Larry Silver. The problem of the portrait of Paracelsus discussed here may be an example of the Renaissance understanding of the humanist against the background of landscape

Body and Carnality in the Scene of „Genesis”. An Analysis of Selected Medieval Works of Art

The Medieval imagery in the representations of the Genesis are profusely analysed in the literature of the subject. This is owing to the fact that the images in question cumulate a large number of interrelated religious motifs and ideas. The paramount motif is that of the Creator, whose presence was usually represented graphically by the figure of Christ with the crossnimbus. Other figures were also used as substitutes of God the Father. Figures of angels taking part in the consequent stages of creation are a frequent iconographic element, too. Irrespective of the above, the bodies and the carnality of Adam and Eve has been discussed only marginally, or completely ignored in the research on the Medieval imagery of the Genesis. Despite the common belief that Medieval art had no intense interest in the human body, the scenes depicting the creation of the human being reveal the artists' attempts to take up the theological discourse on the nature of carnality, bearing “God's image.” This paper points at a selection of patristic texts and those written by other authors who interpreted carnality in the context of the mystery of the human soul, intellect, human senses as well as the conditions relating to the sexual divide. The analysis is based on the most outstanding Medieval miniatures and reliefs that represent the relationship between the human being and the Creator in the moment of creating, first, Adam and then Eve. Special emphasis is placed on the artists' efforts to carefully represent the gestures of the Creator, which are to tell the spectator about the dignity of the human body as created by God. Also discussed are images that pinpoint the difference in the artistic positioning of the representation of God in relation to Adam and Eve. Some of the images show closeness and affinity, when God leans down towards the world in the act of creating man. In others, God sits on a globe, creating man by means of a divine gesture, but staying in a distance to His creation. A vital element in the way in which the first parents' bodies were painted was how a given artist emphasised or understated the anatomical features of Adam and Eve. Some artists even presented them as children, in an apparent need to give their own interpretation of their age. Yet another significant aspect in the analysis of how the human body was depicted is that of surroundings. The representations of the garden of Eden present nature, with special exposition of the ground on which the newly-created Adam is lying, a rock as well the trees and rivers in paradise

Inspirations of Old Testament Texts and Jewish Apocrypha in Medieval Scenic Representations of the Book of Genesis

The iconography of the Book of Genesis has been elaborated on in extensive studies in which connections with the biblical text and commentaries, mainly patristic, have been demonstrated. In the state of research gathered on this subject by U. Mazurczak in ‘Das Sechstagewerk in der Ikonographie des Mittelalters. Forschungsstand und Forschungsperspektiven’ (Acta Mediaevalia 8:1995) the author pointed out crucial research problems which were worth further studying in the iconography of ‘Genesis’. Moreover, in a book published in 2012 Human corporeality in medieval Italian painting (Vol. 1. Lublin 2012) the issues of the created body and its significance in the realm of medieval anthropology were presented. In the present study selected texts of Jewish apocrypha and philosophical commentators, which inspired Christian representations of illustrations for the Book of Genesis: the creation of man and his sojourn in the paradise as well as his departure after the original sin, have been pointed out. Jewish tradition in the images of angels in the illustrations of Cotton’s Bible, repeated on mosaics in the narthex of St. Mark’s Church in Venice has been also indicated. Those figures bear resemblance to the texts by Philo of Alexandria who explained the significance of angels appearing next to God in the subsequent days in his commentary On the creation of the world. The number of angels from the first to the seventh refers to each day being created. Elements of Jewish tradition can be also traced in the famous Bible of Czerwińsk (1148-1155), destroyed during World War II, where God the Creator was depicted together with three angels. God the Father anoints the first angel with the same gesture as he touches Adam’s forehead, which is shown in the following medallion. In this way Philo interpreted the creation of mind as stamping it with the wisdom of God the Creator who imprinted his stigma in man’s mind. The apocrypha called the Book of Jubilees was of significant importance—the list of angels’ (residents’ of heaven) powers was enumerated there. They rule over cosmic powers and over man on the earth. In the Book the dialogical form between God and the angels is developed and the gesture of touch is also explained here as it was presented in a codex once stored in Polish collection. The touch is a sign of the deep connection between man and Yahweh who reveals himself in a special way on the day of Sabbath—The Day of God’s Glory. With the sign of touching Adam’s forehead God gave his blessing to man on the seventh day, namely the day of consecration. In a codex stored in the National Library in Vienna and called the Vienna Genesis the scene of the parents going beyond the gates of paradise after the original sin was developed, in turn. A classic motif of an angel standing next to the gates of paradise was enriched with the second female figure, a personification which is deprived of signs of sanctity but is standing close to Adam and Eve. The miniaturist enriched the image of the paradise gates with a motif of blazing but not burning out rims of circles. The female personification, exposed by means of the smartness of clothes and proportionally exceeding all the figures of the scene including the angel, was identified with the personification of Wisdom. The author points out the personification of Divine Law here. In Liber Graduum, a compilation of Gnostic and Hebrew texts, its author concentrated on a description of the sin and the grace of God received by the parents. Before having committed the sin they experienced only God’s love in the paradise, however, after the sin they experienced Divine Mercy, together with Divine Law. The figure in Vienna Genesis standing beyond the gate next to the parents is the figure of the Law given by the merciful God to them

Selected Environmental and Technological Aspects of Shale Gas Exploration and Extraction

The aim of the paper is to characterize potential emissions from shale gas extraction with emphasis on carbon dioxide and methane in connects of achieving EU reduction targets. Poland is on the verge of an energy revolution due to potential exploitation of unconventional hydrocarbons, mainly shale gas. This paper assess impact of shale gas extraction in the context of European climate policy. However European Commission pressure member countries to adopt more ambitious reduction targets in recent years we can observe a slowdown in improvements to EU air quality law. Shale gas boom in USA provided low-price natural gas which has had great impact on U.S. power sector. Since 2008 many coal power plants have been closed (coal’s share of annual generation has declined from 48% to 36%) which has led to a 13% reduction of carbon dioxide emissions. Lawmakers have to consider whether shale gas extraction in Europe could have benefits in reducing GHG emissions.

Relationship between molecular, cytogenetic and clinical parameters in 63 individuals with full mutation in FMR1 gene

Relationship between selected molecular, cytogenetic and clinical parameters was analysed in a group of 63 individuals (45 males and 18 females) with full fragile X mutation. Significant correlation between the size and somatic instability of fully mutated alleles in both males and females was found. Possible explanations of this result are discussed. With respect to the mutation size, an apparent difference was observed between males with different degree of mental retardation. No such difference appeared when affected and normal females with full mutation were compared. The proportion of mutated active X chromosome was significantly higher in mentally retarded females than in those without any mental impairment

Impact of selected factors on extraction yield and composition of fatty acids in microbial oil produced from Yarrowia lipolytica yeast cells

Drożdże Yarrowia lipolytica to modelowy gatunek mikroorganizmów olejogennych, zdolny do kumulacji lipidów wewnątrz komórki w ilości powyżej 20 % suchej masy. Oprócz prac nad zwiększaniem wydajności biosyntezy oleju mikrobiologicznego ważnym zagadnieniem jest także dobór warunków ekstrakcji tłuszczu z biomasy drożdży. Celem pracy była ocena wpływu wybranych parametrów (rodzaju rozpuszczalnika, sposobu przygotowania próbki oraz czasu trwania procesu) na wydajność ekstrakcji tłuszczu zawartego w komórkach dzikiego szczepu drożdży Y. lipolytica KKP 379, prowadzonej w aparacie Soxhleta oraz na skład kwasów tłuszczowych w uzyskanym oleju. Hodowle okresowe drożdży prowadzono w bioreaktorze laboratoryjnym w bogatym podłożu YPO oraz w podłożach mineralnych z limitowaną zawartością azotu, co umożliwiło otrzymanie biomasy komórkowej o zróżnicowanej zawartości oleju mikrobiologicznego. W badaniach zastosowano plany kwadratów łacińskich, co pozwoliło na odmaskowanie efektu wpływu sposobu przygotowania próbki na zmienną zależną, jaką była zawartość tłuszczu w biomasie drożdży. Najlepsze rezultaty osiągnięto po przygotowaniu biomasy metodą lityczną z wykorzystaniem komercyjnego preparatu Y-PER. Zastosowany czas ekstrakcji oraz rodzaj rozpuszczalnika (eter naftowy lub heksan) nie wpłynęły istotnie na wydajność procesu. Rodzaj rozpuszczalnika miał z kolei wpływ na zawartość trzech kwasów tłuszczowych spośród czternastu zidentyfikowanych w lipidach ekstrahowanych z biomasy drożdży, tj. kwasu palmitooleinowego, eikozapentaenowego i dokozatetraenowego. Większą zawartość wymienionych kwasów oznaczono w próbkach ekstrahowanych heksanem.Yarrowia lipolytica yeasts are a model species of oleaginous microorganisms capable of accumulating lipids inside the cell in an amount exceeding 20 % of dry matter. In addition to studies on how to increase the efficiency of oil biosynthesis, an important issue is, also, the selection of conditions for lipid extraction from yeast biomass. The objective of the research study was to assess the impact of some selected parameters (type of solvent, sample treatment method, and the duration of the process) on the yield of extraction, run in an Soxhlet extractor, of lipids contained in cells of wild strain of Y. lipolytica KKP 379 yeast, and on the composition of fatty acids in the microbial oil produced. The yeasts were cultured in a batch process, in a laboratory bioreactor in a rich YPO medium, as well as in nitrogen restricted mineral media; thus, it was possible to obtain a cell biomass with varying contents of microbial oil. In the research, Latin Square Designs were applied so that the effect of biomass treatment method could be unmasked on the dependent variable, i.e. the content of lipids in the yeast biomass. The best results were achieved when the biomass was prepared using a commercial preparation of Y-PER. The applied duration time of extraction and the used type of solvent (petroleum ether or hexane) did not significantly impact the process yield. However, the type of solvent impacted the content of three fatty acids of the fourteen identified in the lipids extracted from the yeast biomass, ie. the content of palmitoleic, eicosapentaenoic, and docosatetraenoic acids. Higher contents of the above mentioned compounds were determined in the hexane extracted samples

Utilization of waste from food and fuel industries by lipolytic yeast of Yarrowia lipolytica

Przemysł spożywczy i paliwowy wytwarzają znaczne ilości trudnych w utylizacji hydrofobowych odpadów, stąd istnieje potrzeba poszukiwania nowych metod ich zagospodarowania. Celem badań była ocena możliwości zastosowania wybranych hydrofobowych odpadów przemysłu spożywczego i paliwowego jako głównego źródła węgla oraz induktora syntezy enzymów lipolitycznych w hodowli szczepu drożdży Yarrowia lipolytica W29. Hodowle wstrząsane prowadzono przez 65 h w 28°C w zmodyfikowanym podłożu YPG, w którym glukoza została zastąpiona olejem po procesie wędzenia ryb, tłuszczem po procesie wędzenia wędlin wieprzowych, tłuszczem po pieczeniu kaczej tuszki, zjełczałym masłem klarowanym lub zużytym olejem silnikowym. Stwierdzono, że odpady te mogą być wykorzystywane jako źródło węgla w hodowli drożdży Y. lipolytica. Produkcję enzymów lipolitycznych zaobserwowano w podłożach zawierających tłuszczowe substraty, a aktywność enzymów korelowano ze składem kwasów tłuszczowych. Wykazano, że istnieje możliwość utylizacji zastosowanych substratów odpadowych w procesach mikrobiologicznych do syntezy enzymów o aktywności lipolitycznej.Waste disposal and by-product management in many branches of industry pose problems in the areas of environmental protection and sustainability. Hydrophobic waste substrates of food and fuel origin stands for one of the continuously gaining ground for waste management fields. The aim of the study was to evaluate the possibility to use food origin wastes and fuel industry waste as a carbon sources in the culture medium for Y. lipolytica W29 with their simultaneous valorization. Culture media contained 2% of waste substrates. In the study there were evaluated yeast biomass yield, number of yeast cells in 1 cm³ of medium and extracellular lipase activity after 65 h of yeast growth on a rotary shaker at 28°C. Five wastes were estimated: oily waste from duck roasting process, oily waste from sausages smoking process, rancid ghee, oily waste from fish smoking process and waste engine oil. Additionally fatty acid composition of lipid waste was analyzed using gas chromatography. It was shown the possibility of using these wastes in cultivation of yeast with their simultaneous valorization by obtaining valuable products, e.g. enzymes such as extracellular lipases as well as biomass intended for feed. Yeast biomass yielded from 19.77 g DM·dm⁻³ for oily waste from duck roasting process to 12.28 g DM·dm⁻³ for oily waste from fish smoking process. It has been found that waste substrates stimulate the synthesis of extracellular lipases with different efficiency. The highest activity was obtained in medium containing smoked fish oil (0.313 U·cm⁻³). Furthermore, in waste engine oil medium no lipase activity of Y. lipolytica yeast was observed, but cells did grow and formed a biofilm. The analysis of fatty acid compositions showed the highest oleic acid content in oily waste from duck roasting process (41.9%), slightly lower waste from sausages smoking process (37.8%) and two-fold lower in fish oil (17.3%). This is very important information, because some authors believe that lipolytic enzymes synthesized by the yeast Y. lipolytica show substrate specificity as compared to that oil. Furthermore, the waste oil from fish smoking process was characterized by the presence of polyunsaturated fatty acids containing more than 20 carbons in chain length (EPA and DHA). There was no correlation between lipolytic activity and oleic acid content in waste fat used as the carbon source in medium, but it can be concluded that Y. lipolytica yeast prefered unsaturated rather than saturated fatty acids in extracellular lipase production