Impact of Maintenance on Domestic Wastewater Treatment Systems

Wastewater treatment systems are important sources of contaminants of emerging substances, including pharmaceuticals, and personal care products. Onsite wastewater treatment systems provide alternative solutions to centralized systems; although they are becoming increasingly popular, little is known about the effect of maintenance on their performance. In the current study, chemical and microbiological parameters in the effluents from two identical on-site wastewater treatment systems were analyzed, one being properly maintained while the other not maintained at all. Taxonomic profiles vastly differed from each other, and organic micropollutants are present at higher concentrations in the effluent of the non-maintained unit. The results highlight the importance of proper maintenance

ChIPSummitDB:a ChIP-seq-based database of human transcription factor binding sites and the topological arrangements of the proteins bound to them.

ChIP-seq reveals genomic regions where proteins, e.g. transcription factors (TFs) interact with DNA. A substantial fraction of these regions, however, do not contain the cognate binding site for the TF of interest. This phenomenon might be explained by protein-protein interactions and co-precipitation of interacting gene regulatory elements. We uniformly processed 3727 human ChIP-seq data sets and determined the cistrome of 292 TFs, as well as the distances between the TF binding motif centers and the ChIP-seq peak summits. ChIPSummitDB enables the analysis of ChIP-seq data using multiple approaches. The 292 cistromes and corresponding ChIP-seq peak sets can be browsed in GenomeView. Overlapping SNPs can be inspected in dbSNPView. Most importantly, the MotifView and PairShiftView pages show the average distance between motif centers and overlapping ChIP-seq peak summits and distance distributions thereof, respectively. In addition to providing a comprehensive human TF binding site collection, the ChIPSummitDB database and web interface allows for the examination of the topological arrangement of TF complexes genome-wide. ChIPSummitDB is freely accessible at http://summit.med.unideb.hu/summitdb/. The database will be regularly updated and extended with the newly available human and mouse ChIP-seq data sets

An Ultra-Rare Manifestation of an X-Linked Recessive Disorder: Duchenne Muscular Dystrophy in a Female Patient

Duchenne muscular dystrophy (DMD) is the most common inherited muscle dystrophy. Patients are characterized by muscle weakness, gross motor delay, and elevated serum creatinine kinase (CK) levels. The disease is caused by mutations in the DMD gene located on the X chromosome. Due to the X-linked recessive inheritance pattern, DMD most commonly affects males, who are generally diagnosed between the age of 3–5 years. Here we present an ultra-rare manifestation of DMD in a female patient. Cytogenetic examination showed that she has a t(X;10)(p21.1;p12.1) translocation, which turned out to affect the DMD gene with one of the breakpoints located in exon 54 (detected by genome sequencing). The X-inactivation test revealed skewed X-inactivation (ratio 99:1). Muscle histology and dystrophin immunohistochemistry showed severe dystrophic changes and highly reduced dystrophin expression, respectively. These results, in accordance with the clinical picture and a highly elevated serum CK, led to the diagnosis of DMD. In conclusion, although in very rare cases, DMD can manifest in female patients as well. In this case, a balanced X-autosome reciprocal translocation disrupts the DMD gene and skewed X-inactivation leads to the manifestation of the DMD phenotype

Halamphora taxa in Hungarian soda pans and shallow soda lakes detected via metabarcoding and microscopic analyses

The research presented investigates whether DNA-based metabarcoding can replace the morphology-based identification of diatom taxa in the ecological status assessments of aquatic habitats. When comparing data obtained with microscopy and metabarcoding, significant deviations have been noticed. One of the main reasons includes the incompleteness of the reference database used for taxonomic annotation of sequences. The database library should be complemented with species inhabiting unique habitats and having specific environmental requirements representing environmental endpoints for genetic diversification. Soda pans and soda lakes are examples of an extreme habitat with the loss of sodic character as the main threat; thus, accurate identification of species and exact information on their salinity tolerance is essential for adequate ecological status assessment. In the present study, by using microscopy and metabarcoding, we investigated taxa of the genus Halamphora that are common in soda pans and soda lakes. We detected six species of which Halamphora dominici and H. veneta occurred frequently and often in high abundance (it was often dominant having relative abundance higher than 5%). Analyses of DNA data confirmed the separation of the two species; as a result, the reference database library has been supplemented with sequences of H. dominici. Furthermore, we have confirmed that this species, which is a significant indicator of sodic character, shows a positive correlation with salinity