83 research outputs found
Investigation of biologically active zeolite: role of colonization in the removal of 14C-labelled sulfamethoxazole in wastewater
Up-to-date approaches to remove micropollutants in wastewater treatment are based on adsorbing materials like activated carbon. These fossil-based materials can also provide a surface for microbial colonization, which could further improve the removal of MPs. As zeolite filters have shown interesting performance in the removal of MPs in previous works, this study aimed to investigate the effect of microbial colonization on such filters on the elimination of 14C-labelled sulfamethoxazole (SMX), an antibiotic from the class of sulfonamides. Lab scale removal tests were set in 100 mL reactors and monitored for 150 days at room temperature. Taxa known to be linked to organic pollutant degradation (Caulobacterales, Rhizobiales, Burkholderiales) were found among the microbial community attached to the zeolite. Bacterial colonization of zeolite filters improved the removal of 14C-sulfamethoxazole by 35 % compared to the control. An analysis of the microbial community dynamics over time revealed the increased abundance of the Vicinamibacterales taxon after 50 days of contact with SMX. This order abundance, linked to degradation of sulfonamides, went from 0 to 17 %; and Shannon diversity ranged from 1.51 to 1.99. Data showed that zeolite filters as adsorbing material in wastewater treatment plants can improve MPs removal by supporting bacterial colonization, making it an interesting support that could synergize with biological activated carbon
Rare Variants in BNC2 Are Implicated in Autosomal-Dominant Congenital Lower Urinary-Tract Obstruction
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Rare variants in BNC2 are implicated in autosomal-dominant congenital lower urinary-tract obstruction
Congenital lower urinary-tract obstruction (LUTO) is caused by anatomical blockage of the bladder outflow tract or by functional impairment of urinary voiding. About three out of 10,000 pregnancies are affected. Although several monogenic causes of functional obstruction have been defined, it is unknown whether congenital LUTO caused by anatomical blockage has a monogenic cause. Exome sequencing in a family with four affected individuals with anatomical blockage of the urethra identified a rare nonsense variant (c.2557C>T [p.Arg853(∗)]) in BNC2, encoding basonuclin 2, tracking with LUTO over three generations. Re-sequencing BNC2 in 697 individuals with LUTO revealed three further independent missense variants in three unrelated families. In human and mouse embryogenesis, basonuclin 2 was detected in lower urinary-tract rudiments. In zebrafish embryos, bnc2 was expressed in the pronephric duct and cloaca, analogs of the mammalian lower urinary tract. Experimental knockdown of Bnc2 in zebrafish caused pronephric-outlet obstruction and cloacal dilatation, phenocopying human congenital LUTO. Collectively, these results support the conclusion that variants in BNC2 are strongly implicated in LUTO etiology as a result of anatomical blockage
A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have been identified as causative for autosomal recessive intellectual developmental disorder type 65. In contrast, dominant variants, usually disruptive as well, have been more difficult to implicate in a specific phenotype, since some of them have been found in unaffected controls or relatives. Here, we describe individuals with likely pathogenic variants in KDM5B, including eight individuals with dominant missense variants. This study is a retrospective case series of 21 individuals with variants in KDM5B. We performed deep phenotyping and collected the clinical information and molecular data of these individuals’ family members. We compared the phenotypes according to variant type and to those previously described in the literature. The most common features were developmental delay, impaired intellectual development, behavioral problems, autistic behaviors, sleep disorders, facial dysmorphism, and overgrowth. DD, ASD behaviors, and sleep disorders were more common in individuals with dominant disruptive KDM5B variants, while individuals with dominant missense variants presented more frequently with renal and skin anomalies. This study extends our understanding of the KDM5B-related neurodevelopmental disorder and suggests the pathogenicity of certain dominant KDM5B missense variants
Over-the-Counter Monocyclic Non-Steroidal Anti-Inflammatory Drugs in Environment—Sources, Risks, Biodegradation
Recently, the increased use of monocyclic
non-steroidal anti-inflammatory drugs has resulted in
their presence in the environment. This may have
potential negative effects on living organisms. The
biotransformation mechanisms of monocyclic nonsteroidal
anti-inflammatory drugs in the human body
and in other mammals occur by hydroxylation and
conjugation with glycine or glucuronic acid.
Biotransformation/biodegradation of monocyclic
non-steroidal anti-inflammatory drugs in the environment
may be caused by fungal or bacterial microorganisms.
Salicylic acid derivatives are degraded by
catechol or gentisate as intermediates which are
cleaved by dioxygenases. The key intermediate of
the paracetamol degradation pathways is hydroquinone.
Sometimes, after hydrolysis of this drug, 4-
aminophenol is formed, which is a dead-end metabolite.
Ibuprofen is metabolized by hydroxylation or
activation with CoA, resulting in the formation of
isobutylocatechol. The aim of this work is to attempt
to summarize the knowledge about environmental risk
connected with the presence of over-the-counter antiinflammatory
drugs, their sources and the biotransformation
and/or biodegradation pathways of these
drugs
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