JACC Cardiovasc Interv
November 2024
Background: Abbreviated antiplatelet therapy (APT) reduces bleeding without increasing ischemic events in largely unselected high bleeding risk (HBR) patients undergoing percutaneous coronary intervention (PCI). Diabetes mellitus (DM) is associated with higher ischemic risk, and its impact on the safety and effectiveness of abbreviated APT in HBR PCI patients remains unknown.
Objectives: This study sought to investigate the comparative effectiveness of abbreviated (1 month) vs standard (≥3 months) APT in HBR patients with and without DM after biodegradable polymer sirolimus-eluting coronary stent implantation.
An 82-year-old patient experienced symptomatic intra-prosthetic aortic regurgitation 5 years after self-expandable transcatheter heart valve (THV) implantation. Redo-transcatheter aortic valve replacement was initially considered at high risk of coronary obstruction. Using a systematic computed tomography-based approach planning a low implantation with a SAPIEN 3 Ultra THV, we effectively mitigated risks.
View Article and Find Full Text PDFPrime editing is a recent, CRISPR-derived genome editing technology capable of introducing precise nucleotide substitutions, insertions, and deletions. Here, we present prime editing approaches to correct L227R- and N1303K-CFTR, two mutations that cause cystic fibrosis and are not eligible for current market-approved modulator therapies. We show that, upon DNA correction of the CFTR gene, the complex glycosylation, localization, and, most importantly, function of the CFTR protein are restored in HEK293T and 16HBE cell lines.
View Article and Find Full Text PDFSevere paravalvular leak (PVL) may be complicated by heart failure and haemolysis. PVL management is challenging, especially when the gap is large. We describe a case of PVL due to tilting of a sutureless biological prosthesis successfully treated by transcatheter aortic valve replacement (TAV-in-SAV).
View Article and Find Full Text PDFPulmonary arterial (PA) hypertension (PAH) is a severe cardiopulmonary disease that may be triggered by exposure to drugs such as dasatinib or facilitated by genetic predispositions. The incidence of dasatinib-associated PAH is estimated at 0.45%, suggesting individual predispositions.
View Article and Find Full Text PDFBackground: Preterm birth is associated with a high risk of long-term neuromotor disabilities such as coordination of movements, deficient antigravity limb movement, less adaptive postural control strategies, head deformities… AIMS: The aim of the present study was to examine the potential positive impact of a Supported Diagonal Flexion (SDF) skin-to-skin contact (SSC) positioning on the neuromotor development and movement quality of very preterm infants at term age.
Study Design: Monocentric prospective matched-pair case-control study.
Subjects: Thirty very preterm infants and their mother were proposed either SDF SSC positioning (n = 15) or Vertical SSC positioning (n = 15).
Context: Germline CDKN1B variants predispose patients to multiple endocrine neoplasia type 4 (MEN4), a rare MEN1-like syndrome, with <100 reported cases since its discovery in 2006. Although CDKN1B mutations are frequently suggested to explain cases of genetically negative MEN1, the prevalence and phenotype of MEN4 patients is poorly known, and genetic counseling is unclear.
Objective: To evaluate the prevalence of MEN4 in MEN1-suspected patients and characterize the phenotype of MEN4 patients.
Cystic fibrosis (CF) is caused by defective Cystic Fibrosis Transmembrane Conductance Regulator (CFTR) proteins. CFTR controls chloride (Cl) and bicarbonate (HCO ) transport into the Airway Surface Liquid (ASL). We investigated the impact of F508del-CFTR correction on HCO secretion by studying transepithelial HCO fluxes.
View Article and Find Full Text PDFBackground: MR elastography (MRE) may provide quantitative imaging biomarkers of lumbar back muscles (LBMs), complementing MRI in spinal diseases by assessing muscle mechanical properties. However, reproducibility analyses for MRE of LBM are lacking.
Purpose: To assess technical failure, within-day and inter-day reproducibility, robustness with the excitation source positioning, and inter-observer agreement of MRE of muscles.
Front Endocrinol (Lausanne)
November 2023
Background: Around 20% of people with cystic fibrosis (pwCF) do not have access to the triple combination elexacaftor/tezacaftor/ivacaftor (ETI) in Europe because they do not carry the F508del allele on the CF transmembrane conductance regulator () gene. Considering that pwCF carrying rare variants may benefit from ETI, including variants already validated by the US Food and Drug Administration (FDA), a compassionate use programme was launched in France. PwCF were invited to undergo a nasal brushing to investigate whether the pharmacological rescue of CFTR activity by ETI in human nasal epithelial cell (HNEC) cultures was predictive of the clinical response.
View Article and Find Full Text PDFCatheter Cardiovasc Interv
September 2023
Background: Percutaneous coronary intervention (PCI) for bifurcation lesions can be technically challenging and is associated with higher risk. There is little data on sex-based differences in strategy and outcomes in bifurcation PCI.
Aims: We sought to assess whether differences exist between women and men in the treatment and outcomes of bifurcation PCI.
Rationale: Limited information is available on the clinical status of people with Cystic Fibrosis (pwCF) carrying 2 nonsense mutations (PTC/PTC). The main objective of this study was to compare disease severity between pwCF PTC/PTC, compound heterozygous for F508del and PTC (F508del/PTC) and homozygous for F508del (F508del+/+).
Methods: Based on the European CF Society Patient Registry clinical data of pwCF living in high and middle income European and neighboring countries, PTC/PTC (n = 657) were compared with F508del+/+ (n = 21,317) and F508del/PTC(n = 4254).
Unlabelled: Severe or repeated hypoglycemia events may favor memory complaints in type 1 diabetes (T1D). Pancreatic islet transplantation (IT) is an alternative option to exogenous insulin therapy in case of labile T1D, implying a maintenance immunosuppression regimen based on sirolimus or mycophenolate, associated with tacrolimus, that may also have neurological toxicity. The objective of this study was to compare a cognitive rating scale Mini-Mental State Examination (MMSE) between T1D patients with or without IT and to identify parameters influencing MMSE.
View Article and Find Full Text PDFIntroduction And Objectives: Coronary chronic total occlusions (CTO) involving bifurcation lesions are a challenging lesion subset that is understudied in the literature. This study analyzed the incidence, procedural strategy, in-hospital outcomes and complications of percutaneous coronary interventions (PCI) for bifurcation-CTO (BIF-CTO).
Methods: We assessed data from 607 consecutive CTO patients treated at the Institut Cardiovasculaire Paris Sud (ICPS), Massy, France between January 2015 and February 2020.
Transcatheter aortic valve replacement (TAVR) indications recently extended to lower surgical risk patients with longer life expectancy. Commissural alignment (CA) is one of the emerging concepts and is becoming one of the cornerstones of the TAVR procedure in a patient with increased longevity. Indeed, CA may improve transcatheter heart valve (THV) hemodynamics, future coronary access, and repeatability.
View Article and Find Full Text PDFBackground: Large-scale registries can provide valuable complementary data to randomized controlled trials (RCT) for the postmarketing evaluation of coronary stents, but their scientific relevance remains debated.
Methods: We sought to compare the evidence on the performance of a single coronary stent platform generated by the RCT for its regulatory approval and a well-conducted international registry. Patients treated with the Ultimaster coronary stent in the CENTURY II (CII-UM) trial (n = 551) were compared to patients in the real-world e-ULTIMASTER (e-UM) registry (n = 35,389).