Validation of a hypomorphic variant in CDK13 as the cause of CHDFIDD with autosomal recessive inheritance through determination of an episignature.

Autosomal dominant CDK13-related disease is characterized by congenital heart defects, dysmorphic facial features, and intellectual developmental disorder (CHDFIDD). Heterozygous pathogenic variants, particularly missense variants in the kinase domain, have previously been described as disease causing. Using the determination of a methylation pattern and comparison with an established episignature, we reveal the first hypomorphic variant in the kinase domain of CDK13, leading to a never before described autosomal recessive form of CHDFIDD in a boy with characteristic features.

Dysfunctional eating attitudes and behaviors among athletes: The role and potential of virtual reality.

This brief article discusses the current state of knowledge on the use of virtual reality in assessing and/or treating body image and body image disturbances among athletes with dysfunctional eating attitudes and behaviors ( i.e., eating disorders and disordered eating).

CFTR mutation is associated with bone differentiation abnormalities in cystic fibrosis.

Background: Cystic Fibrosis-related Bone Disease is an emerging challenge faced by 50 % of adult people with cystic fibrosis (CF). The multifactorial causes of this comorbidity remain elusive. However, congenital bone defects have been observed in animal models with CFTR mutations, suggesting its importance.

Patient views on continued immune checkpoint inhibition following progression in advanced melanoma: A qualitative study.

Introduction: Immune checkpoint inhibition has revolutionized the management of metastatic melanoma, including in the final stages of disease progression: because it is well tolerated, some teams do not discontinue it in hopes of slowing disease progression. The risks are that treatment may be continued unnecessarily, causing side effects, and reduce access to specialist palliative care, in addition to increasing the cost of treatment.

Method: We explored the experiences of 10 patients in a university hospital with metastatic melanoma under continued immune checkpoint inhibitors combined with specialist palliative care.

Design, optimization, and inference of biphasic decay of infectious virus particles.

Virus population dynamics are driven by counter-balancing forces of production and loss. Whereas viral production arises from complex interactions with susceptible hosts, the loss of infectious virus particles is often approximated as a first-order kinetic process. As such, experimental protocols to measure infectious virus loss are not typically designed to identify non-exponential decay processes.

Incentives for smoking cessation.

Background: Financial incentives (money, vouchers, or self-deposits) can be used to positively reinforce smoking cessation. They may be used as one-off rewards, or in various schedules to reward steps towards sustained smoking abstinence (known as contingency management). They have been used in workplaces, clinics, hospitals, and community settings, and to target particular populations.

Water treatment-free prolonged intermittent kidney replacement therapy: A new approach for kidney replacement therapy in the ICU setting. A retrospective study.

The optimal modalities of kidney replacement therapy (KRT) in the ICU remain debated. Intermittent haemodialysis (IHD) and continuous veno-venous haemofiltration (CVVH) are the two main methods. Intermittent haemodialysis requires a water treatment system, which may not be available in all jurisdictions.

Exploring body ideal internalization, sociocultural pressures, and probable muscle dysmorphia in Canadian and American boys and men.

This study aimed to determine whether the internalization of body ideals and sociocultural pressures to adhere to body ideals are associated with a greater likelihood of having probable muscle dysmorphia. Cross-sectional data from 1553 boys and men ages 15-35 from Canada and the United States were used. Multiple logistic regression analyses determined the association between the internalization of three body ideals, sociocultural pressures to adhere to body ideals from four sources, and having probable muscle dysmorphia.

Untargeted LC-HRMS analyses reveal metabolomic specificities between wine yeast strains selected for their malic acid production.

The alcoholic fermentation of wine is mostly achieved by the species Saccharomyces cerevisiae that display a large variability for their ability to consume or produce malic acid. To better characterize the metabolism of such group of strains we explored their non-volatile metabolome using an untargeted LC-HRMS approach. The chemical classes and the putative structures of several hundred compounds where annotated using MS2 spectra using the SIRIUS software.

DNA methylation landscapes before and after Pacific Oyster Mortality Syndrome are different within and between resistant and susceptible Magallana gigas.

Pacific oysters face recurring outbreaks of Pacific Oyster Mortality Syndrome (POMS), a polymicrobial multifactorial disease. Although this interaction is increasingly understood, the role of epigenetics (e.g.

Human liver cell-based assays for the prediction of hepatic bile acid efflux transporter inhibition by drugs.

Introduction: Drug-mediated inhibition of bile salt efflux transporters may cause liver injury. In vitro prediction of drug effects toward canalicular and/or sinusoidal efflux of bile salts from human hepatocytes is therefore a major issue, which can be addressed using liver cell-based assays.

Area Covered: This review, based on a thorough literature search in the scientific databases PubMed and Web of Science, provides key information about hepatic transporters implicated in bile salt efflux, the human liver cell models available for investigating functional inhibition of bile salt efflux, the different methodologies used for this purpose, and the modes of expression of the results.

Making the Case for an International Childhood Cancer Data Partnership.

Childhood cancers are a heterogeneous group of rare diseases, accounting for less than 2% of all cancers diagnosed worldwide. Most countries, therefore, do not have enough cases to provide robust information on epidemiology, treatment, and late effects, especially for rarer types of cancer. Thus, only through a concerted effort to share data internationally will we be able to answer research questions that could not otherwise be answered.

Hemolymph microbiota and immune effectors' expressions driven by geographical rearing acclimation of the aquacultured Penaeus stylirostris.

Background: In holobiont, microbiota is known to play a central role on the health and immunity of its host. Then, understanding the microbiota, its dynamic according to the environmental conditions and its link to the immunity would help to react to potential dysbiosis of aquacultured species. While the gut microbiota is highly studied, in marine invertebrates the hemolymph microbiota is often set aside even if it remains an important actor of the hemolymph homeostasis.

Addressing evidence needs during health crises in the province of Quebec (Canada): a proposed action plan for rapid evidence synthesis.

Background: The COVID-19 pandemic necessitated the rapid availability of evidence to respond in a timely manner to the needs of practice settings and decision-makers in health and social services. Now that the pandemic is over, it is time to put in place actions to improve the capacity of systems to meet knowledge needs in a situation of crisis. The main objective of this project was thus to develop an action plan for the rapid syntheses of evidence in times of health crisis in Quebec (Canada).

The art and science of translucent color organic solar cells.

The artistic and scientific perspectives of the translucent color organic solar cells (OSCs), made with the emerging narrowband nonfullerene acceptors are explored. The translucent color OSCs, comprising a Fabry-Pérot microcavity optical coupling layer, have a power conversion efficiency of >15% and a maximum transparency of >20% for the three primary colors. The performance-color relationship of the translucent color OSCs is analyzed using a combination of high-throughput optical computing and experimental optimization, allowing light with desired color to pass through, while absorbing enough light to generate electricity.

Tailoring pyridine bridged chalcogen-concave molecules for defects passivation enables efficient and stable perovskite solar cells.

Suppressing deep-level defects at the perovskite bulk and surface is indispensable for reducing the non-radiative recombination losses and improving efficiency and stability of perovskite solar cells (PSCs). In this study, two Lewis bases based on chalcogen-thiophene (n-Bu4S) and selenophene (n-Bu4Se) having tetra-pyridine as bridge are developed to passivate defects in perovskite film. The uncoordinated Pb and iodine vacancy defects can interact with chalcogen-concave group and pyridine group through the formation of the Lewis acid-base adduct, particularly both the defects can be surrounded by concave molecules, resulting in effective suppression charge recombination.

Risk assessment for esophageal cancer after bariatric surgery: a comparative cohort study between sleeve gastrectomy and gastric bypass.

Background: The risk of esophageal cancer after bariatric surgery is a matter of debate.

Objective: This study aims to evaluate the risk of esophageal cancer following sleeve gastrectomy (SG) and gastric bypass (GB).

Methods: We extracted data from the national discharge database (Programme De Médicalisation des Systèmes d'Information) for patients who underwent bariatric surgery in France between 2007 and 2020.