Featuring BRCA1 and BRCA2 germline mutational landscape from Asturias (North Spain).

The singular BRCA1/2 mutational landscape of Asturias is updated 10 years after the first study. We analyzed BRCA1 and BRCA2 pathogenic variants in 1653 index cases. In total, 238 families were identified to carry a pathogenic variant, 163 families in BRCA1 and 75 families in BRCA2.

Implementation of Society for Cardiovascular Angiography and Interventions classification in patients with cardiogenic shock secondary to acute myocardial infarction in a spanish university hospital.

Background: Killip-Kimball classification has been used for estimating death risk in patients suffering acute myocardial infarction (AMI). Killip-Kimball stage IV corresponds to cardiogenic shock. However, the Society for Cardiovascular Angiography and Interventions (SCAI) classification provides a more precise tool to classify patients according to shock severity.

A nascent riboswitch helix orchestrates robust transcriptional regulation through signal integration.

Widespread manganese-sensing transcriptional riboswitches effect the dependable gene regulation needed for bacterial manganese homeostasis in changing environments. Riboswitches - like most structured RNAs - are believed to fold co-transcriptionally, subject to both ligand binding and transcription events; yet how these processes are orchestrated for robust regulation is poorly understood. Through a combination of single-molecule and bulk approaches, we discover how a single Mn ion and the transcribing RNA polymerase (RNAP), paused immediately downstream by a DNA template sequence, are coordinated by the bridging switch helix P1.

A nascent riboswitch helix orchestrates robust transcriptional regulation through signal integration.

Widespread manganese-sensing transcriptional riboswitches effect the dependable gene regulation needed for bacterial manganese homeostasis in changing environments. Riboswitches - like most structured RNAs - are believed to fold co-transcriptionally, subject to both ligand binding and transcription events; yet how these processes are orchestrated for robust regulation is poorly understood. Through a combination of single molecule and bulk approaches, we discovered how a single Mn ion and the transcribing RNA polymerase (RNAP), paused immediately downstream by a DNA template sequence, are coordinated by the bridging switch helix P1.

Single-shot, high-repetition rate carrier-envelope-phase detection of ultrashort laser pulses.

We propose a single-shot, high-repetition rate measurement scheme of the carrier-envelope phase offset of ultrashort laser pulses. The spectral fringes resulting from f-2f nonlinear interferometry, encoding the carrier-envelope-phase, are evaluated completely optically via an optical Fourier transform. For demonstration, the carrier-envelope-phase of a 200 kHz, few-cycle optical parametric chirped-pulse amplification (OPCPA) laser system was measured employing an interferometer as a periodic optical filter.

Riboswitches as therapeutic targets: promise of a new era of antibiotics.

Introduction: The growth of antibiotic resistance among bacterial pathogens is an impending global threat that can only be averted through the development of novel antibacterial drugs. A promising answer could be the targeting of riboswitches, structured RNA elements found almost exclusively in bacteria.

Areas Covered: This review examines the potential of riboswitches as novel antibacterial drug targets.

Bilaminar Graft of the Anterior Capsule and Internal Limiting Membrane: A Novel Surgical Technique for the Treatment of Macular Hole and Focal Macular Detachment Associated with High Myopia and Posterior Staphyloma.

This case report describes a novel surgical technique for the treatment of macular hole and focal macular detachment associated with high myopia and posterior staphyloma. A 65-year-old female presented with a stage 3C myopic traction maculopathy and VA of 20/600. OCT examination confirmed a macular hole of 958 μm diameter, posterior staphyloma, and macular detachment.

Integrative and Collaborative Approach in the Chronic Management of Obesity in Primary and Tertiary Care Setting: Vall Hebron-SAP Muntanya Healthcare Route.

Introduction: In the context of obesity pandemic, the health care providers involved in the primary care should have a significant role. Several guidelines for the management of obesity in primary care were proposed recently. In general lines, these guidelines include recommendation on the baseline assessment, therapy, and algorithm for referral to specialized obesity clinic and follow-up.

Few-cycle all-fiber supercontinuum laser for ultrabroadband multimodal nonlinear microscopy.

Temporally coherent supercontinuum sources constitute an attractive alternative to bulk crystal-based sources of few-cycle light pulses. We present a monolithic fiber-optic configuration for generating transform-limited temporally coherent supercontinuum pulses with central wavelength at 1.06 µm and duration as short as 13.

Bacillary Layer Detachment in an Atypical Case of Central Serous Chorioretinopathy Associated with High Hyperopia.

A 16-year-old boy with elevated hyperopia presented to the office with a 24-h history of bilateral blurred vision, mainly of the left eye, and bilateral central serous chorioretinopathy. He showed a clinically recognizable bacillary layer detachment in one eye and excellent multimodal diagnostic image correlation, with the best-corrected visual acuity as 20/400. He had bilateral serous retinal detachment, as confirmed by optical coherence tomography.

CHARACTERIZING COVID-19-RELATED RETINAL VASCULAR OCCLUSIONS: A Case Series and Review of the Literature.

Purpose: To describe clinical and ophthalmologic features and outcomes of patients with coronavirus disease-19 with retinal vascular occlusions.

Methods: Retrospective multicenter case series and PubMed review of cases reported from March 2020 to September 2021. Outcome measures are as follows: type of occlusion, treatments, best-corrected visual acuity, and central macular thickness on optical coherence tomography.

Transcriptional Riboswitches Integrate Timescales for Bacterial Gene Expression Control.

Transcriptional riboswitches involve RNA aptamers that are typically found in the 5' untranslated regions (UTRs) of bacterial mRNAs and form alternative secondary structures upon binding to cognate ligands. Alteration of the riboswitch's secondary structure results in perturbations of an adjacent expression platform that controls transcription elongation and termination, thus turning downstream gene expression "on" or "off." Riboswitch ligands are typically small metabolites, divalent cations, anions, signaling molecules, or other RNAs, and can be part of larger signaling cascades.

Integrated health intervention on polypharmacy and inappropriate prescribing in elderly people with multimorbidity: Results at the end of the intervention and at 6 months after the intervention.

Background And Objective: To analyse the impact of an integrated health intervention focused on polypharmacy and inappropriate prescribing (IP) in elderly people with multimorbidity.

Material And Methods: Patients were referred for assessment and intervention from primary care or hospital to an interdisciplinary team composed of primary and hospital medical staff and nurses. Pharmacological assessment was centred on polypharmacy and IP using the STOPP/START criteria.

Detection and elimination of pulse train instabilities in broadband fibre lasers using dispersion scan.

We use self-calibrating dispersion scan to experimentally detect and quantify the presence of pulse train instabilities in ultrashort laser pulse trains. We numerically test our approach against two different types of pulse instability, namely second-order phase fluctuations and random phase instability, where the introduction of an adequate metric enables univocally quantifying the amount of instability. The approach is experimentally demonstrated with a supercontinuum fibre laser, where we observe and identify pulse train instabilities due to nonlinear propagation effects under anomalous dispersion conditions in the photonic crystal fibre used for spectral broadening.

SyncRGB-FLIM: synchronous fluorescence imaging of red, green and blue dyes enabled by ultra-broadband few-cycle laser excitation and fluorescence lifetime detection.

We demonstrate for the first time that an ultra-broadband 7 femtosecond (fs) few-cycle laser can be used for multicolor nonlinear imaging in a single channel detection geometry, when employing a time-resolved fluorescence detection scheme. On a multi-chromophore-labelled cell sample we show that the few-cycle laser can efficiently excite the multiple chromophores over a >400 nm two-photon absorption range. By combining the few-cycle laser excitation with time-correlated single-photon counting (TCSPC) detection to record two-photon fluorescence lifetime imaging microscopy (FLIM) images, the localization of different chromophores in the cell can be identified based on their fluorescence decay properties.

Management of Primary Obstructive Megaureter by Endoscopic High-Pressure Balloon Dilatation. IDEAL Framework Model as a New Tool for Systematic Review.

Therapeutic management of primary obstructive megaureter (POM) requiring surgery has been under debate for the last 15 years especially regarding the outcomes of endoscopic techniques compared to most traditional approaches. This review aims to analyze endoscopic High-Pressure Balloon Dilatation (HPBD) using the IDEAL model, a five-stage framework that describes surgical innovations (Idea, Development, Exploration, Assessment, and Long-term Study) and provides recommendations for a rigorous stepwise surgical research pathway. This model has been developed and demonstrated its value in evaluating surgical innovations assessing data quality and providing relevant information for the optimal design and feasibility of research in surgery.

All-optical measurement of the complete waveform of octave-spanning ultrashort light pulses.

We demonstrate the complete temporal characterization of the optical waveform of visible near-infrared octave-spanning ultrashort laser pulses, using an all-optical, all-solid-state, and fully inline dispersion-scan device based only on second-harmonic generation.

Strategies for achieving intense single-cycle pulses with in-line post-compression setups.

Intense few- and single-cycle pulses are powerful tools in different fields of science Today, third- and higher-order terms in the remnant spectral phase of the pulses remain a major obstacle for obtaining high-quality few- and single-cycle pulses from in-line post-compression setups. In this Letter, we show how input pulse shaping can successfully be applied to standard post-compression setups to minimize the occurrence of high-order phase components during nonlinear propagation and to directly obtain pulses with durations down to 3 fs. Furthermore, by combining this pulse shaping of the input pulse with new-generation broadband chirped mirrors and material addition for remnant third-order phase correction, pulses down to 2.

Genital reconstruction with Integra™ artificial dermis after radical resection in a boy with diffuse lymphangiomatosis.

Objective: Lymphangiomatosis is a rare disease affecting lymphatic vessels that causes a marked increase of them in the affected area. The final objective of treatment of the genital disease is to preserve sexual function and voiding with a satisfactory aesthetic result with the aim to minimize the emotional impact.

Methods: For the first time in children, we report a case of local reconstruction using artificial dermis after the excision of a genital lymphatic malformation in an eight year old patient.

Retrograde Endopyelotomy with Cutting Balloon™ for Treatment of Ureteropelvic Junction Obstruction in Infants.

Purpose: The aim of this study is to analyze results of retrograde endopyelotomy with cutting balloon for treatment of ureteropelvic junction obstruction (UPJO) in infants.

Methods: We routinely treat patients with UPJO under 18 months of age with retrograde high-pressure balloon dilatation of the pelviureteric junction (PUJ). During the procedure, in these cases where narrowing at the PUJ persists, endopyelotomy with cutting balloon is performed.

High-pressure balloon assessment of pelviureteric junction prior to laparoscopic "vascular hitch".

Aim: To assess if calibration of the ureteropelvic junction (UPJ) using a high-pressure balloon inflated at the UPJ level in patients with suspected crossing vessels (CV) could differentiate between intrinsic and extrinsic stenosis prior to laparoscopic vascular hitch (VH).

Materials And Methods: We reviewed patients with UPJO diagnosed at childhood or adolescence without previous evidence of antenatal or infant hydronephrosis (10 patients). By cystoscopy, a high-pressure balloon is sited at the UPJ and the balloon inflated to 8-12 atm under radiological screening.

Slip-Knot-Loop Suture for Continuous Suturing in Laparoscopy.

Aims: One of the challenges of laparoscopic surgery is the time required to perform intracorporeal knots. This can result in considerably longer operating times when compared with the open approach. An example of this is pediatric laparoscopic pyeloplasty, where extensive laparoscopic suturing is required.

Outcomes of a general hospital-based home parenteral nutrition (HPN) program; report of our experience from a 26-year period.

Background: Home parenteral nutrition (HPN) was introduced in Spain in the late 1980s. Our hospital was a pioneering medical centre in this field.

Aim: Analyze outcomes of our HPN program.

Primary obstructive megaureter: the role of high pressure balloon dilation.

Background And Purpose: There is a growing interest in minimally invasive treatment of primary obstructive megaureter (POM) in children. The absence of long-term follow-up data, however, makes it difficult to establish the indication for an endoscopic approach. The aim of our study is to determine the long-term efficacy of endourologic high-pressure balloon dilation of the vesicoureteral junction (VUJ) in children with POM that necessitates surgical treatment.