De linde terug in het bos : verslag veldwerkplaats Droog zandlandschap Doorwerth, 9 mei 2008

Verslag van de veldwerkdag Droog zandlandschap in Doorwerth op 9 mei 2008. Tijdens deze veldwerkdag is in de bossen bij kasteel Doorwerth gekeken naar de 0strooisellaag van verschillende bostypen. Aanplant van lindes in een eikenbeukenbos op een relatief arme bodem geeft een zichtbare verbetering van de strooisellaag. De verzuring die in bossen plaatsvindt kan op deze manier plaatselijk worden bestreden. De aanplant van linde en andere boomsoorten met goed verterend strooisel kan dus een bijdrage leveren aan het oplossen van het verzuringsprobleem. Daarbij leidt de verbeterde strooiselkwaliteit tot een verhoging van biodiversiteit en bloemenpracht in het voorjaar

Towards Next-Generation Sequencing (NGS)-Based Newborn Screening:A Technical Study to Prepare for the Challenges Ahead

Newborn screening (NBS) aims to identify neonates with severe conditions for whom immediate treatment is required. Currently, a biochemistry-first approach is used to identify these disorders, which are predominantly inherited metalbolic disorders (IMD). Next-generation sequencing (NGS) is expected to have some advantages over the current approach, for example the ability to detect IMDs that meet all screening criteria but lack an identifiable biochemical footprint. We have now designed a technical study to explore the use of NGS techniques as a first-tier approach in NBS. Here, we describe the aim and set-up of the NGS-first for the NBS (NGSf4NBS) project, which will proceed in three steps. In Step 1, we will identify IMDs eligible for NGS-first testing, based on treatability. In Step 2, we will investigate the feasibility, limitations and comparability of different technical NGS approaches and analysis workflows for NBS, eventually aiming to develop a rapid NGS-based workflow. Finally, in Step 3, we will prepare for the incorporation of this workflow into the existing Dutch NBS program and propose a protocol for referral of a child after a positive NGS test result. The results of this study will be the basis for an additional analytical route within NBS that will be further studied for its applicability within the NBS program, e.g., regarding the ethical, legal, financial and social implications.</p

МОДЕЛИРОВАНИЕ ПРОЦЕССОВ ДОСТАВКИ ВСПОМОГАТЕЛЬНыХ ГРУЗОПОТОКОВ ВНУТРИШАХТНОГО ТРАНСПОРТА С УЧЕТОМ ХАРАКТЕРИСТИКИ ТРАССы

Розглянуто специфічні задачі внутрішахтного транспорту. Запропоновано використовувати метод Флойду-Уоршелла для моделювання допоміжних вантажопотоків з урахуванням характеристики мар- шруту. Наведені результати застосування цього методу для своєчасної доставки матеріальних потоків вугільних шахт у підготовчі вибої. Рассмотрены специфические задачи внутришахтного транспорта. Предложено использовать метод Флойда – Уоршелла для моделирования вспомогательных грузопотоков с учетом характеристики трас- сы. Приведены результаты применения используемого метода для оперативной доставки материаль- ных потоков угольных шахт в подготовительные забои

Renewable Energy

This chapter presents an in-depth examination of major renewable energy technologies, including their installed capacity and energy supply in 2009 , the current state of market and technology development, their economic and financial feasibility in 2009 and in the near future, as well as major issues they may face relative to their sustainability or implementation. Renewable energy sources have been important for humankind since the beginning of civilization. For centuries, biomass has been used for heating, cooking, steam generation, and power production; solar energy has been used for heating and drying; geothermal energy has been used for hot water supplies; hydropower, for movement; and wind energy, for pumping and irrigation. For many decades renewable energy sources have also been used to produce electricity or other modern energy carriers

Cardiomyopathy in patients with epidermolysis bullosa simplex with mutations in KLHL24

Dominant mutations in the KLHL24 gene, encoding for kelch-like protein 24, have been implicated in the pathogenesis of epidermolysis bullosa simplex (EBS). So far, 26 patients from different ethnicities have been reported and all of them harboured a heterozygous KLHL24 start-codon mutation, with c.1A>G;p.Met1? being the most prevalent.1-3 Through this report, we aimed to expand the phenotypic spectrum by incorporating additional findings, in particular, dilated cardiomyopathy, seen in a Dutch family. This article is protected by copyright. All rights reserved

CAPICE:a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

Exome sequencing is now mainstream in clinical practice. However, identification of pathogenic Mendelian variants remains time-consuming, in part, because the limited accuracy of current computational prediction methods requires manual classification by experts. Here we introduce CAPICE, a new machine-learning-based method for prioritizing pathogenic variants, including SNVs and short InDels. CAPICE outperforms the best general (CADD, GAVIN) and consequence-type-specific (REVEL, ClinPred) computational prediction methods, for both rare and ultra-rare variants. CAPICE is easily added to diagnostic pipelines as pre-computed score file or command-line software, or using online MOLGENIS web service with API. Download CAPICE for free and open-source (LGPLv3) at https://github.com/molgenis/capice.

Epidural Analgesia with Ropivacaine during Labour in a Patient with a SCN5A Gene Mutation

SCN5A gene mutations can lead to ion channel defects which can cause cardiac conduction disturbances. In the presence of specific ECG characteristics, this mutation is called Brugada syndrome. Many drugs are associated with adverse events, making anesthesia in patients with SCN5A gene mutations or Brugada syndrome challenging. In this case report, we describe a pregnant patient with this mutation who received epidural analgesia using low dose ropivacaine and sufentanil during labour

Benign recurrent intrahepatic cholestasis (BRIC): Evidence of genetic heterogeneity and delimitation of the BRIC locus to a 7-cM interval between D18S69 and D18S64

Benign recurrent intrahepatic cholestasis (BRIC) is an autosomal recessive liver disease characterized by multiple episodes of cholestasis without progression to chronic liver disease. The gene was previously assigned to chromosome 18q21, using a shared segment analysis in three families from the Netherlands. In the present study we report the linkage analysis of an expanded sample of 14 BRIC families, using 15 microsatellite markers from the 18q21 region. Obligate recombinants in two families place the gene in a 7-cM interval, between markers D18S69 and D18S64. All intervening markers had significant LOD scores in two-point linkage analysis. More over, we identified one family in which the BRIC gene seems to be unlinked to the 18q21 region, or that represents incomplete penetrance of the BRIC genotype