Hereditary angioedema (HAE) in children and adolescents : a consensus on therapeutic strategies

Hereditary angioedema due to C1 inhibitor (C1 esterase inhibitor) deficiency (types I and II HAE-C1-INH) is a rare disease that usually presents during childhood or adolescence with intermittent episodes of potentially life-threatening angioedema. Diagnosis as early as possible is important to avoid ineffective therapies and to properly treat swelling attacks. At a consensus meeting in June 2011, pediatricians and dermatologists from Germany, Austria, and Switzerland reviewed the currently available literature, including published international consensus recommendations for HAE therapy across all age groups. Published recommendations cannot be unconditionally adopted for pediatric patients in German-speaking countries given the current approval status of HAE drugs. This article provides an overview and discusses drugs available for HAE therapy, their approval status, and study results obtained in adult and pediatric patients. Recommendations for developing appropriate treatment strategies in the management of HAE in pediatric patients in German-speaking countries are provided.Conclusion Currently, plasma-derived C1 inhibitor concentrate is considered the best available option for the treatment of acute HAE-C1-INH attacks in pediatric patients in German-speaking countries, as well as for short-term and long-term prophylaxis

Extreme weather and climate in Europe

This report describes the current scientific knowledge of extreme weather and climate events in Europe for the following variables: temperature, precipitation, hail, and drought (with the following types of drought: meteorological, hydrological and soil moisture). The content summarises key literature drawn from peer reviewed journals and other sources (business and government reports), and builds upon the synthesised results presented in international assessments such as IPCC reports. It describes the recorded observations and modelled projections for extreme events including definitions, frequency, trends, spatial and temporal distribution. The report also presents an overview of the indices used to characterise extreme events as well as their main uses, before going on to describe the datasets where they are recorded, and provides information on the strengths and weaknesses of the indices and the datasets. Extra consideration is given to indices that are relevant to socio-economic impacts resulting from climate change and relevant statistical techniques for analysing extreme events. Observed changes in global climate and extreme events provide the context to the changes in extreme events observed in Europe, which are described for much of the 20th century. Modelled projections of extreme events are also given, under different emissions scenarios and time horizons, including results from regional models covering the European domain, such as EURO-CORDEX. The report is written for climate scientists, climate researchers and experts who use climate information in a professional role. There are four case studies (Appendix 2) which provide an anatomy of different recent European extreme weather/climate events including meteorological impacts and synoptic context. Observed global temperature trends show the number of warm extremes has increased and number of cool extremes has decreased over the last 100 years, and the length and frequency of summer heat waves has increased during the last century. In Europe these trends are most pronounced in the last 40 years although regional variations exist. For Europe, 2014 was the warmest year on record, although it had fewer hot days than recent years. Under future climate change with continued warming, the number of heat waves is projected to increase, along with their duration and intensity. Under all emissions scenarios, summers like the hot summer experienced in 2003 will become commonplace by the 2040s. The global trend in precipitation is generally for wetter conditions over the 20th century although changes are less temporally and spatially coherent than those observed for temperature. The general trend in precipitation for Europe in the 20th century is of increases over northern Europe and decreases over southern Europe. Extreme precipitation is becoming more intense and more frequent in Europe, especially in central and eastern Europe in winter, often resulting in greater and more frequent flooding. Since 1950 winter wet spells increased in duration in northern Europe and reduced in southern Europe, while summer wet spells became shorter in northern and eastern Europe. An increasing proportion of total rainfall is observed to fall on heavy rainfall days. Extreme precipitation (including short intense convective or longer duration frontal types) demonstrates complex variability and lacks a robust spatial pattern. Climate models project that events currently considered extreme are expected to occur more frequently in the future. For example a 1-in-20 year annual maximum daily precipitation amount is likely to become a 1-in-5 to 1-in-15 year event by the end of the 21st century in many parts of Europe. There are few ground based hail observation networks, so satellite measurements and weather models are used to identify hail forming conditions. In Europe most extreme hail events occur in the summer over Central Europe and the Alps where convective energy is greatest. Intense hail events are linked to increases in convective energy in the atmosphere observed over the last 30 years. Hailstorm projection studies, although limited to France, northern Italy and Germany, show increases in the convective conditions that lead to hail and some areas show a rise in damage days although this is not statistically significant. Recent severe droughts include Italy (1997-2002), the Baltic countries 2005-2009, the European heatwave of summer 2003, and the widespread European drought of 2011. The 1950s were prone to long, intense, Europe-wide meteorological and hydrological droughts. In northern and eastern Europe the highest drought frequency and severity was from the early 1950s to the mid-1970s. Southern and Western Europe (especially the Mediterranean) show the highest drought frequency and severity since 1990. There has been a small but continuous increase of the European areas prone to drought from the 1980s to the early 2010s. Regional climate models project a decrease in summer precipitation until 2100 of 17%. Dry periods are expected to occur 3 times more often at the end of this century and to last longer by 1 to 3 days compared to the period of 1971-2000. There is significant uncertainty associated with future projections of drought, with climate variability being the dominant source of uncertainty in observed and projected soil moisture drough

Identification of regulatory variants associated with genetic susceptibility to meningococcal disease.

Non-coding genetic variants play an important role in driving susceptibility to complex diseases but their characterization remains challenging. Here, we employed a novel approach to interrogate the genetic risk of such polymorphisms in a more systematic way by targeting specific regulatory regions relevant for the phenotype studied. We applied this method to meningococcal disease susceptibility, using the DNA binding pattern of RELA - a NF-kB subunit, master regulator of the response to infection - under bacterial stimuli in nasopharyngeal epithelial cells. We designed a custom panel to cover these RELA binding sites and used it for targeted sequencing in cases and controls. Variant calling and association analysis were performed followed by validation of candidate polymorphisms by genotyping in three independent cohorts. We identified two new polymorphisms, rs4823231 and rs11913168, showing signs of association with meningococcal disease susceptibility. In addition, using our genomic data as well as publicly available resources, we found evidences for these SNPs to have potential regulatory effects on ATXN10 and LIF genes respectively. The variants and related candidate genes are relevant for infectious diseases and may have important contribution for meningococcal disease pathology. Finally, we described a novel genetic association approach that could be applied to other phenotypes

Selection of information system for a small wood-industry company

Problem majhnih lesnih podjetij je, da ne poznajo svojih informacijskih potrebprav tako ne poznajo sodobnih informacijskih rešitev in njihovih ponudnikov. Izbira primernega informacijskega sistema je zato še bolj zapleten postopek. S ciljem oblikovanja ustreznega odločitvenega modela, ki bi podjetjem lahko bil v pomoč pri tej izbiri, smo v raziskavi najprej opravili analizo informacijskih potreb v manjših in v preučevanem podjetju. Ugotovili smo, da se le-te povsem ujemajo. Na osnovi ugotovljenih informacijskih potreb smo v nadaljevanju določili merila za izbor najustreznejšega informacijskega sistema za manjša lesna podjetja in pridobili ponudbe za 10 različnih informacijskih sistemov. Po metodi večkriterijskega odločanja smo postavili odločitveni model in izbrali informacijski sistem, ki najbolj ustreza potrebam tako preučevanega kot tudi ostalih, podobnih manjših lesnih podjetij.One of the problems most small wood-industry companies face is not being aware of their own information needs. They are also not familiar with the up-to-date information solutions and their providers. These facts make the selection of a suitable information system an even more complicated process. The purpose of our research was to form an appropriate decision model, helping companies with decision-making. With this aim in mind, we first carried out an analysis of information needs in small wood-industry companies as well as in the resarched one. We discovered that these needs do not differ much. Based on the results, we then determined the criteria for choosing the most suitable information system for smaller wood-industry companies and we received offers for 10 different information systems. Using the method of multi-criteria decision-making, we set up a decision model and we chose the information system best suited for the needs of the resarched company, as well as for other, similar small wood-industry companies

The condition of business informatics in small wood industry companie

Raziskovali smo, kakšno je stanje poslovne informatike v manjžih lesnoindustrijskih podjetjih. Na eni strani nas je zanimalo, koliko podjetja uporabljajo računalnike, internet in informacijske sisteme za podporo svojim poslovnim aktivnostim, na drugi strani pa, katera področja pokrivajo s tovrstnimi informacijskimi rešitvami. Ugotovili smo, da so podjetja, ki že uporabljajo celovite informacijske sisteme, z njimi večinoma zadovoljna in ji huporabljajo predvsem za podporo ključnim poslovnim aktivnostim. Raziskava je potrdila, da stanje informacijske tehnologije v preučevanih podjetjih omogoča razvoj podjetij tudi na področju uvajanja informacijskih sistemov in orodij.The research studied the condition of business informatics in small wood industry companies. On one hand we were interested in how much the companies use computers, the internet and information systems to support their business activities, on the other hand we tried to find out which field of work they control with this kind of information solutions. It was found out that the companies, which already use integrity information systems (Enterprise Resource Planning systems), are mostly satisfied with them and that they use them to control their most important business activities. The research confirmed that the condition of information technology in studied companies gives them the opportunity for development in the field of introducing information systems and tools