MYH7 p.(Arg1712Gln) is pathogenic founder variant causing hypertrophic cardiomyopathy with overall relatively delayed onset.

Introduction: The MYH7 c.5135G > A p.(Arg1712Gln) variant has been identified in several patients worldwide and is classified as pathogenic in the ClinVar database.

Characterization of the Zebrafish () Mutant: A New Model of Elastinopathy Leading to Heart Valve Defects.

Elastic fibers are extracellular macromolecules that provide resilience and elastic recoil to elastic tissues and organs in vertebrates. They are composed of an elastin core surrounded by a mantle of fibrillin-rich microfibrils and are essentially produced during a relatively short period around birth in mammals. Thus, elastic fibers have to resist many physical, chemical, and enzymatic constraints occurring throughout their lives, and their high stability can be attributed to the elastin protein.

Holistic pediatric oncology: towards a second Copernican revolution.

Recently, a holistic approach to oncology that integrates a whole-body understanding of the etiology and dynamics of cancer and the development of new therapies has been proposed. Herein we discuss how this concept is also relevant to pediatric oncology, with the caveat of specificities that must be considered.

Sarcoidosis-Related Uveitis: A Review.

Sarcoidosis is an inflammatory disease that involves the eyes in 10-55% of cases, sometimes without systemic involvement. All eye structures can be affected, but uveitis is the most common ocular manifestation and causes vision loss. The typical ophthalmological appearance of these uveitis is granulomatous (in cases with anterior involvement), which are usually bilateral and with synechiae.

Synthesis and Chiroptical Properties of a Chiral Isotopologue of -Cryptophane-B.

We report the synthesis and absolute configuration (AC) of a chiral isotopologue of -cryptophane-B. Low chiral signatures were measured by polarimetry and electronic circular dichroism, whereas most significant chiroptical effects were observed by vibrational circular dichroism (VCD) and Raman optical activity (ROA). The comparison of experimental VCD and ROA spectra with those predicted by DFT calculations allows the determination of the AC of the two enantiomers as (-)--- and (+)---.

Comparison of core-shell versus fully porous particle packings for chiral liquid chromatography productivity.

A loading and productivity study was done using three racemates on vancomycin and teicoplanin-bonded chiral stationary phases of different particle formats. Two columns were packed with 2.7 μm superficially porous particles and two columns were packed with identically bonded 5 μm fully porous particles.

Systematic Item Content and Overlap Analysis of Self-Reported Multiple Sleep Disorder Screening Questionnaires in Adults.

Sleep disorders are defined on the basis of diagnostic criteria presented in medical classifications. However, no consensus has emerged on the exact list of operational symptoms that should be systematically investigated in the field of sleep medicine. We propose a systematic analysis of sleep symptoms that figure in a set of self-reported multiple sleep disorder screening questionnaires for adult populations, to identify the content overlap of symptoms that probe the presence of central sleep symptoms, and to highlight the potential level of heterogeneity among sleep disorder questionnaires.

[Suspected allergy to COVID-19 vaccines: A retrospective study of 320 patients].

Introduction: The health context with COVID-19 pandemic has led to fast development of many vaccines against the SarS-Cov-2 virus. Four of them are currently available in France and contain polyethylene glycol (PEG) or polysorbate 80 as excipients, already described as causing anaphylaxis. French recommendations have been suggested by allergology authorities and proposed a course of action in the event of a suspected allergy to these vaccines.

Unattended home sleep studies for the diagnosis of obstructive sleep apnea in a population of French children.

Background: Ambulatory exams were preferred in children during the COVID-19 pandemic. Polysomnography (PSG), the gold standard for obstructive sleep apnea (OSA) diagnosis, requires several leads and sensors to be attached to the child's body. Children are more comfortable with respiratory polygraphic (RP) recording, which needs fewer sensors.

The complexity of measuring reliability in learning tasks: An illustration using the Alternating Serial Reaction Time Task.

Despite the fact that reliability estimation is crucial for robust inference, it is underutilized in neuroscience and cognitive psychology. Appreciating reliability can help researchers increase statistical power, effect sizes, and reproducibility, decrease the impact of measurement error, and inform methodological choices. However, accurately calculating reliability for many experimental learning tasks is challenging.

Control Charts Usage for Monitoring Performance in Surgery: A Systematic Review.

Objectives: The control chart is a graphical tool for data interpretation that detects aberrant variations in specific metrics, ideally leading to the identification of special causes that can be resolved. A clear assessment of control chart utilization and its potential impact in surgery is required to justify recommendations for its dissemination. This review aims to describe how performance monitoring using control charts was used over time in surgery.

Impact of the / Relative Configuration of Cryptophane-222 on the Binding Affinity of Cesium and Thallium.

We report in this article the synthesis, the X-ray crystal structure of compound -, and its binding properties with cesium and thallium in aqueous solution under basic conditions. Compound - is the diastereomeric compound of - that shows very high affinity for cesium and thallium in aqueous solution under the same conditions. Despite the close structural similarities that exist between the - and - compounds, they show large discrepancy in their ability to bind cesium and thallium cations in the same conditions.

Species delineation and genetic structure of two species ( and ) on Madagascar and the Comoro archipelago.

Cryptic species diversity is known to be common in bats but remains challenging to study in these mammals, whose natural history traits render their sampling and monitoring challenging. For these animals, indirect genetic approaches provide a powerful tool to gain insight into the evolutionary history and ecology of cryptic bat species. The speciation history of the polyphyletic species group (Molossidae) is poorly understood, including those found on western Indian Ocean islands.