Discovery of a Novel DYRK1A Mutation (c.524del) in Intellectual Development Disorder Autosomal Dominant 7 (MRD7): A Comprehensive Case Analysis.

Dual-specificity tyrosine kinase 1A (DYRK1A) is a member of the CMGC family that is linked to a multitude of neuronal development pathways. Both overexpression and insufficiency of this gene are associated with many recognizable disorders, including Down syndrome and DYRK1A-related intellectual disability syndrome which is characterized by distinct physical features with microcephaly and global developmental delay. We report a case of DYRK1A-related intellectual disability syndrome caused by a novel mutation.

The Use of Radiomic Tools in Renal Mass Characterization.

The incidence of renal mass detection has increased during recent decades, with an increased diagnosis of small renal masses, and a final benign diagnosis in some cases. To avoid unnecessary surgeries, there is an increasing interest in using radiomics tools to predict histological results, using radiological features. We performed a narrative review to evaluate the use of radiomics in renal mass characterization.

Design and Synthesis of Artificial Nucleobases for Sequence-Selective DNA Recognition within the Major Groove.

We present the design and synthesis of artificial specific nucleobases, each one recognizing a single base pair within the major groove of duplex DNA. Computational calculations indicate that PNAs modified with these nucleobases enable the formation of highly stable triple helices with no sequence restrictions through multiple hydrogen bonding and π⋅⋅⋅π stacking interactions, without significantly widening the DNA double helix. New synthetic routes were developed to the structures of these fused heterocycles which have rarely been described in the literature.

Chaperonin CCT controls extracellular vesicle production and cell metabolism through kinesin dynamics.

Cell proteostasis includes gene transcription, protein translation, folding of de novo proteins, post-translational modifications, secretion, degradation and recycling. By profiling the proteome of extracellular vesicles (EVs) from T cells, we have found the chaperonin complex CCT, involved in the correct folding of particular proteins. By limiting CCT cell-content by siRNA, cells undergo altered lipid composition and metabolic rewiring towards a lipid-dependent metabolism, with increased activity of peroxisomes and mitochondria.

Assessment of a Coated Mitomycin-Releasing Biodegradable Ureteral Stent as an Adjuvant Therapy in Upper Urothelial Carcinoma: A Comparative In Vitro Study.

A major limitation of the treatment of low-grade upper tract urothelial carcinoma is the difficulty of intracavitary instillation of adjuvant therapy. Therefore, the aim of this in vitro study was to develop and to assess a new design of biodegradable ureteral stent coated with a silk fibroin matrix for the controlled release of mitomycin C as a chemotherapeutic drug. For this purpose, we assessed the coating of a biodegradable ureteral stent, BraidStent, with silk fibroin and subsequently loaded the polymeric matrix with two formulations of mitomycin to evaluate its degradation rate, the concentration of mitomycin released, and changes in the pH and the weight of the stent.

Diagnosis and Treatment of Small Renal Masses: Where Do We Stand?

Purpose Of Review: To present an overview of the current evidence-based studies covering diagnostic and management of SRM.

Recent Findings: Renal cell carcinoma (RCC) represents 3% of the cancers. Nowadays, partial nephrectomy (PN) represents gold standard treatment.

Heparin coating in biodegradable ureteral stents does not decrease bacterial colonization-assessment in ureteral stricture endourological treatment in animal model.

Background: We assessed an antireflux biodegradable heparin-coated ureteral stent (BraidStent-H) in an animal model comparative study after endoscopic treatment of ureteral strictures.

Methods: A total of 24 female pigs underwent initial endoscopic, nephrosonographic, and contrast fluoroscopy assessment of the urinary tract. Afterward, unilateral laparoscopic ureteral stricture model was performed.

[Circumferential calcifications in cromophobe renal cell carcinoma: Description of a clinical case and review of the literature.].

We present a clinical case of an asymptomatic 61-year-old man was found to have a left kidney mass. Ultrasound and CT showed a 6 x 5 cms mass with calcifications. Histologic examination of the radical nephrectomy specimen revealed a chromophobe renal cell carcinoma.

Iatrogenic Ureteral Injury Treatment with Biodegradable Antireflux Heparin-Coated Ureteral Stent-Animal Model Comparative Study.

The aim is to assess the effectiveness of a biodegradable antireflux ureteral stent with heparin coating in a comparative study (BraidStent-H) in an animal model for the treatment of iatrogenic ureteral perforation. A total of 24 female pigs underwent initial endoscopic, nephrosonographic, and contrast fluoroscopy assessment of the urinary tract. Afterward, unilateral iatrogenic perforation in proximal ureter model was performed.

[Usefulness of laser Holmium Lumenis Pulse 120 H® in the treatment of renal lithiasis through RIRS: Preliminary experience.].

Introduction: The Holmium laser is the most used energy source in flexible ureterrenoscopy (URSf). The Lumenis Pulse 120H® laser has a higher system energy, a higher energy per pulse and a higher repetition frequency in relation to other types of lasers, which offers advantages in the treatment of lithiasis.

Objective: To analyze the results that we have obtained with the use of the Lumenis Pulse120H® laser in patients treated by intrarenal retrograde surgery (RIRS).

The ONETEP linear-scaling density functional theory program.

We present an overview of the onetep program for linear-scaling density functional theory (DFT) calculations with large basis set (plane-wave) accuracy on parallel computers. The DFT energy is computed from the density matrix, which is constructed from spatially localized orbitals we call Non-orthogonal Generalized Wannier Functions (NGWFs), expressed in terms of periodic sinc (psinc) functions. During the calculation, both the density matrix and the NGWFs are optimized with localization constraints.

[Laparoscopic renal cyst excision: Large simple renal cyst treatment with renal cell carcinoma cells in its wall. Histogenetic considerations and bibliographic review.].

Objective: The incidence of simple renal cysts is very high, especially in elderly people. However, malignant transformation of a simple renal cyst is exceptional. Likewise, the treatment to be carried out, in these rare cases, is controversial, with respect to opting for radical renal surgery.

A Synthetic Methodology Toward Pyrrolo[2,3- b]pyridones for GC Base Pair Recognition.

Flexible synthetic access to a novel biarylic GC binding motif is presented, consisting of a pyridone connected to a fused pyrrolo[2,3- b]pyridone. Extensive molecular modeling led to an optimized design with perfect complementarity to the Hoogsteen site inside DNA's major groove. A wide range of functional elements can be introduced by minor modifications of the synthetic strategy.

Antireflux ureteral stent proof of concept assessment after minimally invasive treatment of obstructive uropathy in animal model.

Objectives: To assess the efficacy of a new anti-reflux intraureteral stent design in a swine model after minimally invasive treatment of ureteral stricture to reduce ureteral stent morbidity, previous to manufacture this design in a biodegradable fashion.

Methods: Twenty-eight female pigs were included. The study began with a cystoscopic, nephrosonographic and contrast fluoroscopic assessment.

Evaluation of a New Design of Antireflux-biodegradable Ureteral Stent in Animal Model.

Objective: To determine the effects in urinary tract of a new antireflux-biodegradable ureteral stent.

Materials And Methods: Thirty six ureters belonging to 24 pigs were used. The study began with endoscopic, nephrosonographic, and fluoroscopic assessments.

[Training program in endourological surgery. Future perspectives.].

Current training in urological endoscopy lacks a specific training program. However, there is a clear need for a specific and uniform program, which will ensure the training, regardless of the unit where it is carried out. So, the goal is to first evaluate the current model and then bring improvements for update.

[Effects of preventive double-J stent placement in ureteral obstruction treatment with metal stents on animal model].

Objectives: The purpose of this experimental study is to assess the additive effects of temporary JJ stent placement together with metal stents (MS) in the treatment obstructive uropathy, in order to reduce urothelial hyperplasia formation.

Methods: Twenty-four pigs were included, and an experimental model of obstructive uropathy was created. Six weeks after obstructive uropathy model induction, ureteral obstruction was confirmed using ultrasonography, ureteropyelography and endoluminal ultrasound.

Development and Validation of a Novel Skills Training Model for Retrograde Intrarenal Surgery.

Purpose: The aim of this study is to validate a training model that combines the use of nonbiologic and biologic simulators as well as live porcine animal model in endoscopic retrograde intrarenal surgery (RIRS).

Materials And Methods: A total of 60 urologists took part in this study, and the activity lasted for 2 days. The training model was divided into three modules: Module-I, related to the acquisition of basic theoretical knowledge; Module-II, consisting of an internship with bench models; and Module III, in which animal models were used.

Preliminary Assessment of a New Antireflux Ureteral Stent Design in Swine Model.

Objective: To assess a new antireflux ureteral stent in animal model. The design expects to reduce morbidity associated with JJ ureteral stents.

Materials And Methods: Twelve pigs were used in this study.

Description and validation of realistic and structured endourology training model.

Purpose: The aim of the present study was to validate a model of training, which combines the use of non-biological and ex vivo biological bench models, as well as the modelling of urological injuries for endourological treatment in a porcine animal model.

Material And Methods: A total of 40 participants took part in this study. The duration of the activity was 16 hours.

Identification of prefoldin amplification (1q23.3-q24.1) in bladder cancer using comparative genomic hybridization (CGH) arrays of urinary DNA.

Background: Array-CGH represents a comprehensive tool to discover genomic disease alterations that could potentially be applied to body fluids. In this report, we aimed at applying array-CGH to urinary samples to characterize bladder cancer.

Methods: Urinary DNA from bladder cancer patients and controls were hybridized on 44K oligonucleotide arrays.

PREDIRCAM eHealth platform for individualized telemedical assistance for lifestyle modification in the treatment of obesity, diabetes, and cardiometabolic risk prevention: a pilot study (PREDIRCAM 1).

Background: Healthy diet and regular physical activity are powerful tools in reducing diabetes and cardiometabolic risk. Various international scientific and health organizations have advocated the use of new technologies to solve these problems. The PREDIRCAM project explores the contribution that a technological system could offer for the continuous monitoring of lifestyle habits and individualized treatment of obesity as well as cardiometabolic risk prevention.