Altlastsanierung: Ergebnisse einer aktiven Grundwassersanierung nach vier Jahren Betriebszeit

An active groundwater purification was designed for a landfill treatment. Active means here, that the polluted groundwater is caught and cleaned in the region of the landfill and the leaching out of hazardous substances remaining in the tip is not prevented. The earlier these residual quantities are washed out, the quicker the potential threat of the tip is reduced. The wells for the groundwater management could be put into operation after a construction time of about a year. Effects of the reversal of the direction of groundwater flow in the area were followed for more than one hydrologic year. The amount and quality of the contaminated and uncontaminated groundwater, as well as the annual amounts of TOC, ammonia, aniline, phenol, and p-toluidine are described. The change in groundwater quality inside and outside the landfill area is elucidated

Intracellular Accumulation of Collagen VII in Cultured Keratinocytes from a Patient with Dominant Dystrophic Epidermolysis Bullosa

Expression of collagen VII, a candidate molecule for dystrophic epidermolysis bullosa, was analyzed in cultured keratinocytes from a patient with generalized dominant dystrophic epidermolysis bullosa (DEBD) of the Pasini subtype. Double immunofluorescence revealed an increased intracellular staining of collagen VII that co-localized with protein disulfide isomerase, a marker of the rough endoplasmic reticulum. Ultrastructural analysis of cultured DEBD cells showed dilated cisternae of the rough endoplasmic reticulum and numerous residual bodies, both of which contained abundant collagen VII as detected by immunoelectron microscopy. Immunoblotting of keratinocyte extracts indicated an increased ratio of cell-associated versus secreted soluble collagen VII in DEBD cells. Collagen VII mRNA was of normal size in the DEBD cells, but present in excessive amounts. The data suggest a mutation in the collagen VII gene that leads to intracellular accumulation and degradation of this collagen, and thus to a reduced number of anchoring fibrils at the dermo-epidermal junction, and subsequently to blistering of the skin in this family

Molecular basis of essential fructosuria: molecular cloning and mutational analysis of human ketohexokinase (fructokinase)

Essential fructosuria is one of the oldest known inborn errors of metabolism. It is a benign condition which is believed to result from deficiency of hepatic fructokinase (ketohexokinase, KHK, E.C.2.7.1.3). This enzyme catalyses the first step of metabolism of dietary fructose, conversion of fructose to fructose-1-phosphate. Despite the early recognition of this disorder, the primary structure of human KHK and the molecular basis of essential fructosuria have not been previously defined. In this report, the isolation and sequencing of full-length cDNA clones encoding human ketohexokinase are described. Alternative mRNA species and alternative KHK isozymes are produced by alternative polyadenylation and splicing of the KHK gene. The KHK proteins show a high level of sequence conservation relative to rat KHK. Direct evidence that mutation of the KHK structural gene is the cause of essential fructosuria was also obtained. In a well-characterized family, in which three of eight siblings have fructosurla, all affected individuals are compound heterozygotes for two mutations Gly40Arg and Ala43Thr. Both mutations result from G→A transitions, and each alters the same conserved region of the KHK protein. Neither mutation was seen in a sample of 52 unrelated control individuals. An additional conservative amino acid change (Val49lle) was present on the KHK allele bearing Ala43Th

The boy with massive glucosuria

HBC 2201 INTERMEDIATE ACCOUNTING 1 SUPP (2

Non-invasive diagnosis of lung tuberculosis in children by single voxel 1H-magnetic resonance spectroscopy

Our previous study showed that 1H-magnetic resonance spectroscopy (1H-MRS) can detect lipid peaks characteristic for Mycobacterium tuberculosis infection in cerebral lesions of young children; therefore, we aimed to extend and validate the application of 1H-MRS for the diagnosis of active pulmonary tuberculosis lesions in three adolescent patients. Here, we document lipid peaks characteristic for M. tuberculosis infection by 1H-MRS from lung tissue surrounding lung cavities of two patients whose sputum samples were positive for acid-fast bacilli by microscopy and positive for M. tuberculosis by genetic testing, indicating active tuberculosis. A similar lipid peak was found also in the pleural effusion of a third patient with concurrent lung cavity compatible with active tuberculosis. However, in a patient with a pyogenic pulmonary abscess, 1H-MRS of the drained pus displayed different characteristic peaks but no lipid peak at all. Conclusion: Our findings further validate 1H-MRS as a rapid, non-invasive, and specific diagnostic tool for active tuberculosis in children with microbiologically documented infection outside the central nervous system, specifically in the lung

Abdichtungssystem einer Reststoffdeponie, Entscheidungskriterien und Nutzwertanalyse

Within the framework of the restructuring of a dump, an interdisciplinary group was given the task of evaluating various insulation systems such as mineral, bituminous, plastic sheeting and combined mineral/bituminous. They then had to decide upon a system according to the results of their study. The list of criteria and the results of the Economic Value analysis have been more exactly defined and discussed. The combination of mineral insulation (below) and bituminous (above) was recommended and realised

Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene

A boy presented at age 2.5 years with mild left ventricular hypertrophy and mild myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to death at age 16 years shortly before planned heart transplantation. During the course of the disease, his mother developed severe dilated cardiomyopathy and died of its complications at 46 years of age. The combination of myopathy and cardiomyopathy, the biochemical and electron microscopy findings in a muscle biopsy, and the pedigree suggested Danon disease (MIM 300257), an X-linked lysosomal storage disorder caused by deficiency of lysosome-associated membrane protein-2 (LAMP2). The diagnosis was confirmed by the identification of a novel mutation, G138A, in the LAMP2gene, leading to the premature stop codon W46X. Conclusion:Early diagnosis of Danon disease is important for genetic counselling and timely cardiac transplantation, the only effective therapeutic optio