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In the continuity of a previous jet-cooled rovibrational study of trans and cis conformers of 2-furfural in the mid-infrared region (700–1750 cm−1) [Chawananon et al., Molecules 28 (10), 4165 (2023)], the present work investigates the far-infrared spectroscopy of 2-furfural using a long path absorption cell coupled to a high-resolution Fourier transform spectrometer and synchrotron radiation at the AILES beamline of the SOLEIL synchrotron. Guided by anharmonic calculations, vibrational energy levels and excited-state rotational constants are sufficiently predictive for a complete assignment of all fundamental and combination bands up to 700 cm−1, as well as the rovibrational analysis of 4 (1) low-frequency modes of trans-(cis-)2-furfural. A global rovibrational simulation, including far-infrared rovibrational lines and microwave and millimeter-wave rotational lines assigned in a previous study [Motiyenko et al., J. Mol. Spectrosc., 244, 9 (2007)] provides a reliable set of ground- and excited-state rotational parameters involving ring torsion, bending, and ring puckering modes of 2-furfural. In a second step, a rovibrational analysis of several hot band sequences, mainly involving the lowest frequency ring CHO torsion mode, is carried out. Reliable values of some anharmonic coefficients are obtained experimentally and could serve as a benchmark for validating advanced anharmonic calculations related to these large amplitude motions of flexible molecules. [ABSTRACT FROM AUTHOR]

Abstract Duchenne Muscular Dystrophy (DMD) is a neuromuscular disease that inevitably leads to total loss of autonomy. The new therapeutic strategies aim to both improve survival and optimise quality of life. Evaluating quality of life is nevertheless a major challenge. No DMD-specific quality of life scale to exists in French. We therefore produced a French translation of the English Duchenne Muscular Dystrophy module of the Pediatric Quality of Life Inventory (PedsQLTMDMD) following international recommendations. The study objective was to carry out a confirmatory validation of the French version of the PedsQLTMDMD for paediatric patients with DMD, using French multicentre descriptive cross-sectional data. The sample consisted of 107 patients. Internal consistency was acceptable for proxy-assessments, with Cronbach's alpha coefficients above 0.70, except for the Treatment dimension. For self-assessments, internal consistency was acceptable only for the Daily Activities dimension. Our results showed poor metric qualities for the French version of the PedsQLTMDMD based on a sample of about 100 children, but these results remained consistent with those of the original validation. This confirms the interest of its use in clinical practice.

A detailed analysis of 2D μ-Raman mapping of refractive index variation (Δn) induced by femtosecond filament in the bulk of a ternary (Ge-Ga-S) chalcogenide glass is presented. The results demonstrate strong structural modifications. S3Ga-GaS3 ethane like units are transformed into triclusters of Ga/S. Also the decrease of the population of GeS4/2 tetrahedrons implies the formation of mixed triclusters T/S where T=Ga and/or Ge. Finally, the refractive index variation is correlated to the structural modifications.

Current evidence indicates that dual antiplatelet therapy with aspirin plus a P2Y 12 inhibitor is essential for the prevention of thrombotic events after percutaneous coronary interventions. However, dual antiplatelet therapy is associated with increased bleeding which may outweigh the benefits. This has set the foundations for customizing antiplatelet treatments to the individual patient. However, bleeding and ischemic risks are often present in the same patient, making it difficult to achieve this balance. The fact that oral P2Y 12 inhibitors (clopidogrel, prasugrel, and ticagrelor) have diverse pharmacodynamic profiles that affect clinical outcomes supports the rationale for using platelet function and genetic testing to individualize antiplatelet treatment regimens. Indeed, up to one-third of patients treated with clopidogrel, but a minority of those treated with prasugrel or ticagrelor, exhibit high residual platelet reactivity resulting in an increased thrombotic risk. On the other hand, prasugrel and ticagrelor are frequently associated with low platelet reactivity and increased bleeding risk compared with clopidogrel without providing any additional reduction in ischemic events compared with patients who adequately respond to clopidogrel. The use of platelet function and genetic testing may allow for a guided selection of oral P2Y 12 inhibitors. However, the nonuniform results of randomized controlled trials have led guidelines to provide limited recommendations on the implementation of these tests in patients undergoing percutaneous coronary intervention. In light of recent advancements in the field, this consensus document by a panel of international experts fills in the guideline gap by providing updates on the latest evidence in the field as well as recommendations for clinical practice. [Display omitted] [ABSTRACT FROM AUTHOR]

Background: Transcatheter aortic valve implantation (TAVI) is increasingly being used in younger patients and those with lower peri‐procedural risk, meaning more patients will live long enough to experience structural valve deterioration (SVD) of the bioprosthesis, indicating repeated TAVI. Experience of repeated TAVI—transcatheter heart valve (THV) implantation into an index THV is limited. This registry aims to assess the peri‐procedural and short‐term safety, efficacy and durability of repeated TAVI. Methods: The ReTAVI Prospective observational registry is an investigator‐initiated, multicentre, international, prospective registry of patients undergoing repeated TAVI using balloon‐expandable SAPIEN prosthesis to evaluate procedural and short‐term safety, efficacy and durability as well as anatomical and procedural factors associated with optimal results. The registry will enrol at least 150 patients across 60 high‐volume centres. Patients must be ≥18 years old, have had procedural success with their first TAVI, have index THV device failure, intend to undergo repeated TAVI and be considered suitable candidates by their local Heart Team. All patients will undergo a 30‐day and 12‐month follow‐up. The estimated study completion is 2025. Conclusions: The registry will collect pre‐, peri‐, postoperative and 12‐months data on patients undergoing repeated TAVI procedures with THVs for failure of the index THV and determine VARC‐3‐defined efficacy and safety at 30 days and functional outcome at 12 months. The registry will expand existing data sets and identify patient characteristics/indicators related to complications and clinical benefits for patients with symptomatic severe calcific degenerative aortic stenosis. [ABSTRACT FROM AUTHOR]

Assessment of dynamic inspiratory function may provide valuable information about the degree and progression of pulmonary involvement in patients with Duchenne muscular dystrophy (DMD). The aims of this study were to characterize inspiratory function and to assess the efficacy of idebenone on this pulmonary function outcome in a large and well-characterized cohort of 10-18 year-old DMD patients not taking glucocorticoid steroids (GCs) enrolled in the phase 3 randomized controlled DELOS trial. We evaluated the effect of idebenone on the highest flow generated during an inspiratory FVC maneuver (maximum inspiratory flow; VI,max(FVC)) and the ratio between the largest inspiratory flow during tidal breathing (tidal inspiratory flow; VI,max(t)) and the VI,max(FVC). The fraction of the maximum flow that is not used during tidal breathing has been termed inspiratory flow reserve (IFR). DMD patients in both treatment groups of DELOS (idebenone, n = 31; placebo: n = 33) had comparable and abnormally low VI,max(FVC) at baseline. During the study period, VI,max(FVC) further declined by -0.29 L/sec in patients on placebo (95%CI: -0.51, -0.08; P = 0.008 at week 52), whereas it remained stable in patients on idebenone (change from baseline to week 52: 0.01 L/sec; 95%CI: -0.22, 0.24; P = 0.950). The between-group difference favoring idebenone was 0.27 L/sec (P = 0.043) at week 26 and 0.30 L/sec (P = 0.061) at week 52. In addition, during the study period, IFR improved by 2.8% in patients receiving idebenone and worsened by -3.0% among patients on placebo (between-group difference 5.8% at week 52; P = 0.040). Although the clinical interpretation of these data is currently limited due to the scarcity of routine clinical practice experience with dynamic inspiratory function outcomes in DMD, these findings from a randomized controlled study nevertheless suggest that idebenone preserved inspiratory muscle function as assessed by VI,max(FVC) and IFR in patients with DMD. Pediatr Pulmonol. 2017;52:508-515. © 2016 The Authors. Pediatric Pulmonology Published by Wiley Periodicals, Inc.

The ortho-isomer 2-furfural (2-FF), which is a primary atmospheric pollutant produced from biomass combustion, is also involved in oxidation processes leading to the formation of secondary organic aerosols. Its contribution to radiative forcing remains poorly understood. Thus, monitoring 2-FF directly in the atmosphere or in atmospheric simulation chambers to characterize its reactivity is merited. The present study reports an extensive jet-cooled rovibrational study of trans and cis conformers of 2-FF in the mid-IR region using two complementary setups: a continuous supersonic jet coupled to a high-resolution Fourier transform spectrometer on the IR beamline of the SOLEIL synchrotron (JET-AILES), and a pulsed jet coupled to a mid-IR tunable quantum cascade laser spectrometer (SPIRALES). Firstly, jet-cooled spectra recorded at rotational temperatures ranging between 20 and 50 K were exploited to derive reliable excited-state molecular parameters of trans- and cis-2-FF vibrational bands in the fingerprint region. The parameters were obtained from global fits of 11,376 and 3355 lines distributed over eight and three vibrational states (including the ground state), respectively, with a root mean square of 12 MHz. In a second step, the middle resolution spectrum of 2-FF recorded at 298.15 K and available in the HITRAN database was reconstructed by extrapolating the data derived from our low-temperature high-resolution analyses to determine the cross sections of each vibrational band of both 2-FF conformers in the 700–1800 cm−1 region. Finally, we clearly demonstrated that the contribution of hot bands observed in the room temperature 2-FF spectrum, estimated between 40 and 63% of the fundamental band, must be imperatively introduced in our simulation to correctly reproduce the HITRAN vibrational cross sections of 2-FF with a deviation smaller than 10%.

Background Primary ciliary dyskinesia (PCD) is a rare airway disorder caused by defective motile cilia. Only male patients have been reported with pathogenic mutations in X-linked DNAAF6, which result in the absence of ciliary dynein arms, whereas their heterozygous mothers are supposedly healthy. Our objective was to assess the possible clinical and ciliary consequences of X-chromosome inactivation (XCI) in these mothers. Methods XCI patterns of six mothers of male patients with DNAAF6-related PCD were determined by DNA-methylation studies and compared with their clinical phenotype (6/6 mothers), as well as their ciliary phenotype (4/6 mothers), as assessed by immunofluorescence and high-speed videomicroscopy analyses. The mutated X chromosome was tracked to assess the percentage of cells with a normal inactivated DNAAF6 allele. Results The mothers' phenotypes ranged from absence of symptoms to mild/moderate or severe airway phenotypes, closely reflecting their XCI pattern. Analyses of the symptomatic mothers' airway ciliated cells revealed the coexistence of normal cells and cells with immotile cilia lacking dynein arms, whose ratio closely mirrored their XCI pattern. Conclusion This study highlights the importance of searching for heterozygous pathogenic DNAAF6 mutations in all female relatives of male PCD patients with a DNAAF6 defect, as well as in females consulting for mild chronic respiratory symptoms. Our results also demonstrate that about one-third--ranging from 20% to 50%--normal ciliated airway cells sufficed to avoid severe PCD, a result paving the way for gene therapy. [ABSTRACT FROM AUTHOR]

Aims: Electrophysiological study (EPS) is recommended in case of new-onset persistent left bundle branch block (NOP-LBBB) after transaortic valve implantation (TAVI) to identify patients at high risk of delayed atrioventricular block (D-AVB). We evaluated the added value of drug challenge, after normal baseline EPS, to predict D-AVB in such patients. Methods: We conducted a comparative single-centre study of two successive periods, during which we used baseline EPS alone (first period) or drug challenge in case of normal baseline EPS (second period), for patients with NOP-LBBB after TAVI. The primary endpoint was a composite of pacemaker use, documented D-AVB, cardiac syncope, sudden death, or delayed pacemaker implantation. Results: Among 736 patients with TAVI implantation between January 2016 and September 2019, 64 with NOP-LBBB were included. During the first period, 4/22 (18.2%) presented with a positive baseline EPS. After a mean (standard deviation [SD]) of 15.6 (8.3) months, 7/22 (31.8%) reached the primary endpoint. During the second period, 19/42 (45.2%) presented with a positive EPS. After a mean (SD) of 12.8 (3.5) months, 8/42 (19.0%) reached the primary endpoint. There was a tendency to increased sensitivity (42.9–87.5%; P = 0.12) and negative predictive value (77.8–95.7%; P = 0.15) of the EPS, respectively during the first to the second period. However, the specificity decreased (93.3–64.7%; P = 0.04). Conclusion: Diagnostic yield improved with drug challenge in case of normal baseline EPS. However, the decrease in specificity led to a high rate of unnecessary pacemaker implantation.