The phenotypic spectrum of gene variants.

Introduction: Classically, Usher syndrome is characterized by the association of sensorineural hearing loss (SNHL), retinitis pigmentosa (RP) and possible vestibular dysfunction. Pathogenic bi-allelic variants in cause atypical autosomal recessive Usher syndrome, which is associated with SNHL and photoreceptors dysfunction without vestibular signs. To date, only 19 scattered descriptions have been reported.

Unified approach to reset processes and application to coupling between process and reset.

Processes under reset, where realizations are interrupted according to some stochastic rule and restarted from the initial state, find broad application in modeling physical, chemical, and biological phenomena and in designing search strategies. While a wealth of theoretical results has been recently obtained, current derivations tend to focus on specific processes, obscuring the general principles and preventing broad applicability. We present a unified approach to those observables of stochastic processes under reset that take the form of averages of functionals depending on the most recent renewal period.

In-Hospital and 1-Year Clinical Results from the French Registry Using Polymer-Free Sirolimus-Eluting Stents in Acute Coronary Syndrome and Stable Coronary Artery Disease.

Objectives: The aim of this postmarket clinical study was to assess the safety and efficacy of the latest generation polymer-free sirolimus-eluting stents (PF-SES) in an all-comers population comparing outcomes in stable coronary artery disease (CAD) versus acute coronary syndrome (ACS) in France.

Background: The efficacy and safety of the first-generation PF-SES have already been demonstrated by randomized controlled trials and "all-comers" observational studies.

Methods: For this all-comers observational, prospective, multicenter study, 1456 patients were recruited in 22 French centers.

Keratoconus Prevalence in Families: A French Study.

Purpose: To assess the keratoconus (KC) prevalence among first-degree relatives of affected subjects.

Methods: We performed large epidemiological, prospective, and observational cohort, which took place in the French KC National Reference Centre, in Bordeaux. We studied data from 94 unrelated patients with KC and at least 2 first-degree relatives assessable.

Emapalumab in Children with Primary Hemophagocytic Lymphohistiocytosis.

Background: Primary hemophagocytic lymphohistiocytosis is a rare syndrome characterized by immune dysregulation and hyperinflammation. It typically manifests in infancy and is associated with high mortality.

Methods: We investigated the efficacy and safety of emapalumab (a human anti-interferon-γ antibody), administered with dexamethasone, in an open-label, single-group, phase 2-3 study involving patients who had received conventional therapy before enrollment (previously treated patients) and previously untreated patients who were 18 years of age or younger and had primary hemophagocytic lymphohistiocytosis.

Efficacy and safety of NI-0101, an anti-toll-like receptor 4 monoclonal antibody, in patients with rheumatoid arthritis after inadequate response to methotrexate: a phase II study.

Objectives: Anti-citrullinated protein antibodies (ACPAs) form immune complexes with citrullinated proteins binding toll-like receptor (TLR) 4, which has been proposed as a mediator of rheumatoid arthritis (RA). NI-0101 is a first-in-class humanised monoclonal antibody blocking TLR4, as confirmed by inhibition of in vivo lipopolysaccharide-induced cytokine release in healthy volunteers. This study was design to confirm preclinical investigations supporting a biomarker-driven approach for treatment of patients with RA who present positive for these immune complexes.

Survival and confinement under quenched disorder.

We study the survival and confinement of random walkers under quenched disorder characterized by spatially-varying waiting times and decay rates. Spatial heterogeneity and segregation lead to a dynamic coupling between transport and reaction, resulting in history-dependent dynamics exhibiting long survivals and confinement. The survival probability decays as a power law, in contrast to the classical exponential law for decay at a homogeneous rate.

NI-0801, an anti-chemokine (C-X-C motif) ligand 10 antibody, in patients with primary biliary cholangitis and an incomplete response to ursodeoxycholic acid.

NI-0801 is a fully human monoclonal antibody against chemokine (C-X-C motif) ligand 10 (CXCL10), which is involved in the recruitment of inflammatory T cells into the liver. The safety and efficacy of NI-0801 was assessed in patients with primary biliary cholangitis. In this open-label phase 2a study, patients with primary biliary cholangitis with an inadequate response to ursodeoxycholic acid received six consecutive intravenous administrations of NI-0801 (10 mg/kg) every 2 weeks.

Retinal detachment after acute posterior vitreous detachment resulting from posterior chamber phakic intraocular lens implantation.

A 39-year-old woman presented with an early posterior vitreous detachment (PVD) after the implantation of an Implantable Collamer Lens phakic intraocular lens (pIOL). The patient detected PVD, noticing metamorphopsia early after surgery; it was confirmed with optical coherence tomography 5 days postoperatively. She was examined by a retinal expert, and no retinal tears were found.

Reaction-diffusion with stochastic decay rates.

Understanding anomalous transport and reaction kinetics due to microscopic physical and chemical disorder is a long-standing goal in many fields including geophysics, biology, and engineering. We consider reaction-diffusion characterized by fluctuations in both transport times and decay rates. We introduce and analyze a model framework that explicitly connects microscopic fluctuations with the mescoscopic description.

Evidence of NI-0101 pharmacological activity, an anti-TLR4 antibody, in a randomized phase I dose escalation study in healthy volunteers receiving LPS.

Toll-like receptor-4 (TLR4) pathways are major contributors to pathological inflammatory responses induced by tissue damage. NI-0101 is the first monoclonal antibody (mAb) blocking TLR4 signaling. This activity is independent of the ligand type and concentration, therefore, potentially blocking any TLR4 ligands.

Percolation thresholds for discrete-continuous models with nonuniform probabilities of bond formation.

We introduce a class of discrete-continuous percolation models and an efficient Monte Carlo algorithm for computing their properties. The class is general enough to include well-known discrete and continuous models as special cases. We focus on a particular example of such a model, a nanotube model of disintegration of activated carbon.

Nonergodic subdiffusion from Brownian motion in an inhomogeneous medium.

Nonergodicity observed in single-particle tracking experiments is usually modeled by transient trapping rather than spatial disorder. We introduce models of a particle diffusing in a medium consisting of regions with random sizes and random diffusivities. The particle is never trapped but rather performs continuous Brownian motion with the local diffusion constant.

Distribution of entanglement in large-scale quantum networks.

The concentration and distribution of quantum entanglement is an essential ingredient in emerging quantum information technologies. Much theoretical and experimental effort has been expended in understanding how to distribute entanglement in one-dimensional networks. However, as experimental techniques in quantum communication develop, protocols for multi-dimensional systems become essential.

The oceanic vertical pump induced by mesoscale and submesoscale turbulence.

The motivation to study the vertical exchanges of tracers associated with mesoscale eddies is that the mean concentration of most oceanic tracers changes rapidly with depth. Because mesoscale processes may transport these tracers vertically, biogeochemists hypothesized that these vertical exchanges may strongly affect global tracer budgets. This hypothesis has motivated a large number of biogeochemical studies that we review here by focusing on the significant advances that have been achieved and the remaining issues and uncertainties.

Characterization of finite-time Lyapunov exponents and vectors in two-dimensional turbulence.

This paper discusses the application of Lyapunov theory in chaotic systems to the dynamics of tracer gradients in two-dimensional flows. The Lyapunov theory indicates that more attention should be given to the Lyapunov vector orientation. Moreover, the properties of Lyapunov vectors and exponents are explained in light of recent results on tracer gradients dynamics.

Comment on "Finding finite-time invariant manifolds in two-dimensional velocity fields" [Chaos 10, 99 (2000)].

This note serves as a commentary of the paper of Haller [Chaos 10, 99 (2000)] on techniques for detecting invariant manifolds. Here we show that the criterion of Haller can be improved in two ways. First, by using the strain basis reference frame, a more efficient version of theorem 1 of Haller (2000) allows to better detect the manifolds.

Photoelectron diffraction imaging for C2H2 and C2H4 chemisorbed on Si(100) reveals a new bonding configuration.

A new adsorption site for adsorbed acetylene on Si(100) is observed by photoelectron imaging based on the holographic principle. The diffraction effects in the carbon 1s angle-resolved photoemission are inverted (including the small-cone method) to obtain an image of the atom's neighboring carbon. The chemisorbed acetylene molecule is bonded to four silicon surface atoms.

Coexisting left congenital diaphragmatic hernia and esophageal atresia with tracheoesophageal fistula: successful management in a premature neonate.

The combination of left congenital diaphragmatic hernia (CDH) with esophageal atresia (EA) and distal tracheoesophageal fistula (TEF) is extremely rare and is considered highly lethal. The authors describe a premature neonate with this association, who is alive at 6 1/2 years of age. Temporary banding of the gastroesophageal junction and gastrostomy was performed concurrently with hernia repair and prosthetic abdominoplasty to enlarge the abdominal cavity.