Upper tract urothelial carcinoma (UTUC) is a relatively rare disease with an aggressive phenotype compared to urothelial carcinoma in the bladder. In recent years, kidney-sparing surgery (KSS) and, in particular, endoscopic surgery have become the procedure of choice among urologists where the treatment of localized UTUC is concerned. Endoscopy tends to result in satisfactory oncological disease control while lowering morbidity and minimizing complications amongst the appropriately selected cohort of patients. While endoscopic surgery for UTUC might appear to be standardized, it, in fact, differs considerably depending on the source of energy used for resection/ablation. There has been little reliable data up to now on which laser energy source is the most superior. The goal of this review is, therefore, to outline the results of endoscopic UTUC treatment using different lasers and to analyze how these laser-tissue interactions may affect the surgery. We start by pointing out that the data remains insufficient when trying to determine which laser is the most effective in the endoscopic management of UTUC. The ever-growing number of indications for minimally invasive treatment and the increasing number of centers using laser surgery will, hopefully, lead to novel randomized controlled trials that compare the performance characteristics of the lasers as well as the effects of UTUC on patients.

• Publikační typ
• časopisecké články MeSH
• přehledy MeSH

The RNA editing enzyme ADAR2 is essential for the recoding of brain transcripts. Impaired ADAR2 editing leads to early-onset epilepsy and premature death in a mouse model. Here, we report bi-allelic variants in ADARB1, the gene encoding ADAR2, in four unrelated individuals with microcephaly, intellectual disability, and epilepsy. In one individual, a homozygous variant in one of the double-stranded RNA-binding domains (dsRBDs) was identified. In the others, variants were situated in or around the deaminase domain. To evaluate the effects of these variants on ADAR2 enzymatic activity, we performed in vitro assays with recombinant proteins in HEK293T cells and ex vivo assays with fibroblasts derived from one of the individuals. We demonstrate that these ADAR2 variants lead to reduced editing activity on a known ADAR2 substrate. We also demonstrate that one variant leads to changes in splicing of ADARB1 transcript isoforms. These findings reinforce the importance of RNA editing in brain development and introduce ADARB1 as a genetic etiology in individuals with intellectual disability, microcephaly, and epilepsy.

• MeSH
• adenosindeaminasa genetika   MeSH
• alely MeSH
• alternativní sestřih genetika   MeSH
• dítě MeSH
• genetická predispozice k nemoci genetika   MeSH
• genetická variace genetika   MeSH
• HEK293 buňky MeSH
• lidé MeSH
• mentální retardace genetika   MeSH
• mikrocefalie genetika   MeSH
• předškolní dítě MeSH
• proteiny vázající RNA genetika   MeSH
• sestřih RNA genetika   MeSH
• záchvaty genetika   MeSH
• Check Tag
• dítě MeSH
• lidé MeSH
• mužské pohlaví MeSH
• předškolní dítě MeSH
• Publikační typ
• časopisecké články MeSH
• práce podpořená grantem MeSH
• Research Support, N.I.H., Extramural MeSH