Building a strategy for soil protection at local and regional scale--the case of agricultural wastes landspreading.

Agricultural wastes (AW) are produced in huge quantities worldwide and may cause detrimental effects on environmental quality, affecting soil, water, and air quality. Given the growing soil degradation worldwide, the need for more food of good quality and therefore the intensified agriculture, it is important to develop recycling plans even for those types of treated AW (e.g., composts) that are not considered hazardous. Two strategic approaches for safe and sustainable landspreading of organic wastes are proposed, depending on wastes properties and hazard potential, i.e., an approach appropriate for traditionally used wastes (manures and composts) and another approach for wastes that are potentially hazardous or hazardous and should only be reused under specific restrictions. Both approaches foresee concrete steps, require close cooperation between farmers and local/regional authorities, and are appropriate to ensure environmental sustainability at AW recycling or disposal areas. Desktop and web application tools are also presented that are anticipated to assist authorities in implementing their monitoring strategies.

Characterization of five novel large deletions causing hereditary haemorrhagic telangiectasia.

Using quantitative real-time polymerase chain reaction (QRT-PCR), molecular genetic analysis was carried out for endoglin (ENG) and activin A receptor type II-like kinase 1 (ACVRL1/ALK1) gene rearrangements in a group of 45 clinically confirmed hereditary haemorrhagic telangiectasia (HHT) families with negative direct sequencing results. We detected five large novel deletions, four in the ALK1 gene and one in the ENG gene. In two families, the whole ALK1 gene was deleted. One of these two deletions spanned at least 216 kb and included five neighbouring genes (LOC728503, ANKRD33, ACVR1B, GRASP, and NR4A1). The lack of additional symptoms in the patient carrying this large deletion indicates that heterozygous loss of these five genes has no obvious phenotypical effect. To our knowledge, this is the first report on whole ALK1 gene deletions in HHT patients. We rescreened our 45 families for large rearrangements using the multiplex ligation-dependent probe amplification (MLPA) method. No discrepancies between the results of QRT-PCR and MLPA were found. Our present work proves QRT-PCR as a reliable and sensitive method. Thus, our study supports that screening for large rearrangements should be considered to improve the genetic analysis in HHT patients with no apparent mutations in ALK1 and ENG using direct sequencing.

Mutation analysis in hereditary haemorrhagic telangiectasia in Germany reveals 11 novel ENG and 12 novel ACVRL1/ALK1 mutations.

Hereditary haemorrhagic telangiectasia (HHT) is an autosomal-dominant disease characterized by recurrent epistaxis, mucocutaneous telangiectasias and visceral arteriovenous malformations. Mutations in endoglin (ENG) and activin A receptor type II-like kinase 1 (ACVRL1 or ALK1) have been found in patients with HHT. We have screened a total of 51 unselected German index cases with the suspected diagnosis of HHT. We identified 30 different mutations in 32 cases (62.7%) by direct sequencing. Among these mutations, 11 of 13 ENG mutations and 12 of 17 ACVRL1 mutations were not previously reported in the literature. Two of the ACVRL1 mutations were each shared by two families. An analysis of the genotype-phenotype correlation is consistent with a more common frequency of pulmonary arteriovenous malformations in patients with ENG mutations than in patients with ACVRL1 mutations in our collective.