Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: experience of the FSHD Italian National Registry

OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers (≤8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra-muscular features, have been associated with the shortest D4Z4 reduced alleles with 1-3 repeats (1-3 DRA). We searched for signs of perinatal onset and evaluated disease outcome through the systematic collection of clinical and anamnestic records of de novo and familial index cases and their relatives, carrying 1-3 DRA. SETTING: Italy. PARTICIPANTS: 66 index cases and 33 relatives carrying 1-3 DRA. OUTCOMES: The clinical examination was performed using the standardised FSHD evaluation form with validated inter-rater reliability. To investigate the earliest signs of disease, we designed the Infantile Anamnestic Questionnaire (IAQ). Comparison of age at onset was performed using the non-parametric Wilcoxon rank-sum or Kruskal-Wallis test. Comparison of the FSHD score was performed using a general linear model and Wald test. Kaplan-Meier survival analysis was used to estimate the age-specific cumulative motor impairment risk. RESULTS: No patients had perinatal onset. Among index cases, 36 (54.5%) showed the first signs by 10 years of age. The large majority of patients with early disease onset (26 out of 36, 72.2%) were de novo; whereas the majority of patients with disease onset after 10 years of age were familial (16, 53.3%). Comparison of the disease severity outcome between index cases with age at onset before and over 10 years of age, failed to detect statistical significance (Wald test p value=0.064). Of 61 index cases, only 17 (27.9%) presented extra-muscular conditions. Relatives carrying 1-3 DRA showed a large clinical variability ranging from healthy subjects, to patients with severe motor impairment. CONCLUSIONS: The size of the D4Z4 allele is not always predictive of severe clinical outcome. The high degree of clinical variability suggests that additional factors contribute to the phenotype complexity

THE INFLUENCE OF THE ANTHROPOGENIC FACTOR ON THE BIODIVERSITY OF CODLING MOTH NATURAL ENEMIES

The human role in bioecological examinations of codling moths is of crucial importance for the integral protection of pome fruit and the production of healthy and safe food. The codling moth (Cydia pomonella L.) is one of the most significant apple pests in terms of causing the diminished yield and poorer fruit quality in apples. As such, the codling moth requires daily monitoring by agricultural producers. The aim of this research was defined by the need for establishing the presence of codling moth natural enemies and the estimation of their codependence in apple plantations with various methods of protection. The examinations were carried out on the territory of Southern Serbia from 2005 to 2008. During the research, the standard entomological methods, such as pheromone traps, branch beating and placing bands around tree trunks, were used to track the presence, number and population dynamics of the codling moth and its natural enemies. The research results revealed the dominant role that the anthropogenic factor has in many segments of the integral apple protection and the production of high-quality apple fruit. Faunistic researches are inevitable for the correct determination of human actions, due to the clear composition of autochthonous natural enemies of the codling moth. The natural enemies of the codling moth whose presence was determined during the research belong to the following orders: Hymenoptera, Diptera, Dermaptera, Neuroptera, Coleoptera and Heteroptera. The analysis that has examined the human influence on the autochthonous natural enemies of the codling moth also contributes to the preservation of biodiversity and agrobiocenosis, as well as to the production of high-quality, safe food

SOME POSSIBILITIES OF VEGETATIVE PROPAGATION OF STRAWBERRY CULTIVARS IN VITRO

This work presents the production technology of five strawberry cultivars by micropropagation. Starting materials were taken in May or June from the stolons that were in the air and meristems of 0.5mm were isolated in the laboratory. The isolated strawberry meristems were cultivated in a medium containing macro and micro elements and phytohormones in different concentrations. The highest percentage of initiated culture was recorded by the cultivar Senga Sengana (81.48%) and the lowest by the cultivar Marmolada (48.00%). Optimal hormone balance for initiating culture strawberries was 1.0 mg / l BAP (Benzylaminopurine), 0,1 mg / l IBA (indole-3 -butyric acid) and 0.1 mg / l GA3 (gibberellic acid). After 50 days of cultivation in the culture, the formed shoots were transferred to medium for multiplication. The multiplication of isolated buds was achieved on the medium with phytohormones BAP and IBA. The highest multiplication index was recorded by the cultivar Senga Sengana (8.77) and the lowest by the cultivar Marmolada (5.42). When planlets reached a height of 10-12mm they were transferred to the rooting medium. The optimal concentration of phytohormones IBA for rooting of the strawberry cultivars was about 5 mg / l. Number of roots ranged from 5.09 for the cultivar Idea to 6.11 for the cultivar Senga Sengana. After two months the plants with developed roots were transplanted into peat briquettes. Adjustment by external conditions was conducted in greenhouses under a mist system. The reception was submitted well by the planted strawberries (90%). The results presented in this paper indicate that micropropagation can speed up the process of getting healthy and HIGH quality planting material ofstrawberries. The procedure for obtaining strawberries by micropropagation can be accelerated by proper selection of the combination and concentrations of phytohormones

Interpretation of the Epigenetic Signature of Facioscapulohumeral Muscular Dystrophy in Light of Genotype-Phenotype Studies

Facioscapulohumeral muscular dystrophy (FSHD) is characterized by incomplete penetrance and intra-familial clinical variability. The disease has been associated with the genetic and epigenetic features of the D4Z4 repetitive elements at 4q35. Recently, D4Z4 hypomethylation has been proposed as a reliable marker in the FSHD diagnosis. We exploited the Italian Registry for FSHD, in which FSHD families are classified using the Clinical Comprehensive Evaluation Form (CCEF). A total of 122 index cases showing a classical FSHD phenotype (CCEF, category A) and 110 relatives were selected to test with the receiver operating characteristic (ROC) curve, the diagnostic and predictive value of D4Z4 methylation. Moreover, we performed DNA methylation analysis in selected large families with reduced penetrance characterized by the co-presence of subjects carriers of one D4Z4 reduced allele with no signs of disease or presenting the classic FSHD clinical phenotype. We observed a wide variability in the D4Z4 methylation levels among index cases revealing no association with clinical manifestation or disease severity. By extending the analysis to family members, we revealed the low predictive value of D4Z4 methylation in detecting the affected condition. In view of the variability in D4Z4 methylation profiles observed in our large cohort, we conclude that D4Z4 methylation does not mirror the clinical expression of FSHD. We recommend that measurement of this epigenetic mark must be interpreted with caution in clinical practice

Propagandasprache im sowjetischen Plakat zur Zeit des ersten Fünfjahresplans

Gesellschaftliche Veränderungen äußern sich in der Regel auch in der Sprache. Dieses Phänomen ist in jeder Sprache vorhanden. Neu erfundene Gegenstände müssen benannt werden. Die gravierenden sprachlichen Veränderungen, besonders in der Lexik, wurden in der ehemaligen Sowjetunion vollzogen. Mein Interesse weckt die frühere Sowjetperiode (1928-1932), wo Ein-Partei-System im Land herrschte. Der Schwerpunkt meiner Arbeit bezieht sich auf die sprachlichen Veränderungen im Plakat. Der Plakattext lehnte sich einerseits an die Zeitungsprache und anderseits war er sehr stark an der politischen Rede des sowjetischen Führers orientiert. Die Sprache war sehr stark vom politischen Einfluss geprägt. Ziel dieser Arbeit soll es sein, zu untersuchen wie die Sprache modifiziert wurde bzw. welche sprachlichen Mittel eingesetzt wurden. Weitere Fragen, die beantwortet werden müssen sind, wie politische Plakate die Ereignisse des 5-Jahresplans begleiteten und dessen Ideologie anschaulich machten. Eine semantische Annäherung an propagandistische Wort-Bild-Plakate des 5-Jahresplans soll Aufschluss über dessen Funktionsweise als politisches Plakat geben. „Das politische Bild der Neuzeit hat noch keine hilfswissenschaftliche Untersuchung und methodische Durchdringung erfahren, so dass die Information, die aus der Bild-Schrift-Kombination des modernen politischen Bildes gewonnen werden könnten, brach liegen.“ Um eine entsprechende Antwort formulieren zu können, soll eine generelle Unterteilung von Plakatparolen und eine praktische Plakatanalyse vorgenommen werden, die die Plakatbeispiele auch in Zusammenhang mit ihrer Bildsprache untersucht. Die Unterscheidung nach Themenschwerpunkten durch Plakatlosungen, wie sie von Kämpfer (1985) vorgenommen wurde, wird in dieser Arbeit übernommen. „Die inhaltlichen Aussagen des Plakats werden dominiert oder determiniert durch den sprachlichen Text, der die Botschaft in Worte fasst. Selbst wenn es nur wenige Worte sind, die als Personennamen, Verbformen oder andere Erklärhilfen verwandt werden, nur durch sie wird die Konkretisation des nie ganz eindeutigen bildlichen Geschehens gesichert.“ Kämpfer argumentiert seine Einteilung der Plakatlosungen in Hinblick auf ihren irreduziblen Sinngehalt. Mit dieser grundsätzlichen Unterteilung soll geklärt werden, wie politische Phänomene in ihrer Propaganda zu unterschiedlichen Ausdrücken kommen. Die Methode, Plakate nach Plakatparolen zu unterteilen, erweist sich außerdem als sinnvoll, weil anhand von Plakatparolen aufgezeigt werden kann, welche sprachlichen Mittel die Propagandasprache verwendet um die Masse von einer Ideologie zu überzeugen. Kämpfer (1985) unterscheidet insgesamt drei Kategorien von Plakatparolen: Führerzitat-, Feiertags- und Einzelwort Parole. Die ersten zwei Typen von Plakatparolen wurden von Kämpfer übernommen. Da der letzte Typ seltener und in den ausgewählten Plakaten überhaupt nicht vorkommt, wurde er ausgelassen, stattdessen aber eine weitere Kategorie der Plakatparole eingeführt: die emanzipatorische Parole. Bei der Plakatauswahl wurde auch darauf geachtet, dass die Plakate (visuell und verbal) den charakteristischen Merkmalen der Propagandasprache entsprechen (z. B. Abwertung des Gegners, aggressive Lexik usw.

General Model for Adequate Cloud Service Selection using Decision Making Methods

Cloud Computing (CC) is a technology that surely brings innovations in today’s business world, more and more companies around the world are widely incorporating this technology into their businesses. From a technical, as well as organizational point of view transferring enterprise IT to the Cloud is a complex task. Various factors have to be taken into consideration in order to make a right choice when moving IT services to the Cloud. The goal of this paper is to identify and to discuss in detail all factors that influence organization’s decision to adopt Cloud. General model for Cloud adoption, introduced in Pantelic et al. [13]a, consists of the key factors driving the organizational benefits when moving to the Cloud. The purpose of the model is to support decision makers in evaluating the benefits, risks and costs of using Cloud Computing. In this paper the general model is extended with two new aggregation methods for harmonization of alternatives rankings in a group decision process. We present the results of two new methods using the method results from previous research [13], as rank inputs, into an aggregate (group) preference. The idea is to find consensus ranking that minimizes disagreement among previous methods results. There were no strong differences between the results of performed methods. The results have shown that Software as a service model and Storage as a service model dominated according to not just arithmetic-mean method, but also to geometric-mean method

Specifics of marketing in overcoming discrepancies on the market of agricultural products

In this paper, authors examine the role of marketing in overcoming the discrepancies between supply and demand, with a special emphasis on agricultural markets. Discrepancies arise as a result of specialization in production and mass production, whereby individual companies tend to make the best use of existing resources and produce large amounts of a narrow assortment, because in this way they achieve the best business results using economy of scale. Consumers, on the other hand, have diverse needs, preferences and aspirations and often demand non-standardized, customized and specific products. The result is a conflict of relatively narrow supply of individual companies and the diverse needs for products and services manifested by consumers. One of the fundamental roles of marketing is to efficiently connect supply and demand and eliminate the existing discrepancies, which is achieved by use of effective marketing channels. Specifics of agricultural products to a certain extent make harmonization of supply and demand even more difficult, taking into account the existence of a large number of small producers on the supply side, the limited seasonality of agricultural products, specific requirements related to storage, and dispersion of demand, which hinders the realization of all marketing activities in overcoming discrepancies. Taking into account previous specifics, there is a need of specialization of intermediaries who act in marketing channels, in order to efficiently eliminate discrepancies between supply and demand in the market of agricultural products.U ovom radu autori ispituju ulogu marketinga u prevazilaženju nesklada između ponude i tražnje, sa posebnim akcentom na tržišta poljoprivrednih proizvoda. Neskladi nastaju kao posledica različite ciljne usmerenosti proizvođača i potrošača. Nosioci ponude teže da na najbolji način angažuju postojeće resurse i proizvedu što veće količine proizvoda uskog asortimana, kroz specijalizaciju i masovnu proizvodnju, jer tako ostvaruju najbolje poslovne efekte koji proističu iz pristupa koji podrazumeva ekonomiju obima. Potrošači, sa druge strane, imaju raznolike potrebe, preferencije i težnje i često zahtevaju nestandardizovane, prilagođene, specifične proizvode. Tako dolazi do sukoba relativno limitirane ponude pojedinačnih kompanija i raznovrsnih potreba za proizvodima i uslugama koje ispoljavaju potrošači. Jedna od osnovnih uloga marketinga u ovom smislu je da efikasno spoji ponudu i tražnju i otkloni postojeće nesklade, što se prvenstveno realizuje korišćenjem efikasnih kanala marketinga. Specifičnosti tržišta poljoprivrednih proizvoda u određenoj meri dodatno otežavaju sprovođenje marketing aktivnosti usmerenih na usaglašavanje ponude i tražnje, imajući u vidu postojanje velikog broja sitnih proizvođača na strani ponude, sezonalnost dospevanja poljoprivrednih proizvoda, posebne zahteve u skladištenju, ali i razuđenost tražnje. Uz uvažavanje navedenih specifičnosti, nameće se potreba specijalizacije učesnika koji deluju u kanalima marketinga, kako bi se efikasno eliminisali neskladi između ponude i tražnje na tržištu poljoprivrednih proizvoda

HERBICIDE PHOSPHINOTHRICIN CAUSES DIRECT STIMULATION HORMESIS

Herbicide phosphinothricin (PPT) inhibits glutamine synthetase (GS), a key enzyme in nitrogen assimilation, thus causing ammonia accumulation, glutamine depletion and eventually plant death. However, the growth response of Lotus corniculatus L. plants immersed in solutions with a broad range of PPT concentrations is biphasic, with pronounced stimulating effect on biomass production at concentrations ≤ 50 μM and growth inhibition at higher concentrations. The growth stimulation at low PPT concentrations is a result of activation of chloroplastic isoform GS2, while the growth suppression is caused by inhibition of both cytosolic GS1 and GS2 at higher PPT concentrations. Since the results are obtained in cell-free system (e.g. protein extracts), to which the principles of homeostasis are not applicable, this PPT effect is an unambiguous example of direct stimulation hormesis. A detailed molecular mechanism of concentration-dependent interaction of both PPT and a related GS inhibitor, methionine sulfoximine, with GS holoen- zymes is proposed. The mechanism is in concurrence with all experimental and literature data

Energy benchmarking in educational buildings in the city of Kragujevac - possibilities for energy efficiency improvement

The implementation of energy efficiency measures and use of renewable energy sources in educational buildings can significantly contribute to reducing energy consumption, but also to CO2 emissions in the entire public sector. The paper shows the comparison of energy consumption indicators for 61 elementary school buildings which have previously been divided in 12 groups, according to the period of construction and size, based on the national typology called TABULA, as the first step of further study on how to use the renewable energy sources. The aim of this paper is to use the energy benchmarking process to select representative facilities which are suitable for applying renewable energy sources, for their further energy efficiency improvement. Indicators of annual specific electricity consumption and CO2 emissions per unit area [kWh/m2] and per user [kWh/user] were calculated. After that, from two groups (in which the highest electricity consumption and CO2 emissions are 68.37% and 74.53% of the total consumption/ emissions), one representative facility was selected.Publishe