A common form of dominant human IFNAR1 deficiency impairs IFN-α and -ω but not IFN-β-dependent immunity.

Autosomal recessive deficiency of the IFNAR1 or IFNAR2 chain of the human type I IFN receptor abolishes cellular responses to IFN-α, -β, and -ω, underlies severe viral diseases, and is globally very rare, except for IFNAR1 and IFNAR2 deficiency in Western Polynesia and the Arctic, respectively. We report 11 human IFNAR1 alleles, the products of which impair but do not abolish responses to IFN-α and -ω without affecting responses to IFN-β. Ten of these alleles are rare in all populations studied, but the remaining allele (P335del) is common in Southern China (minor allele frequency ≈2%).

Intravenous thrombolysis in young adults with ischemic stroke: A cohort study from the international TRISP collaboration.

Background And Aims: Previous observational data indicate that young adults treated with intravenous thrombolysis (IVT) for acute ischemic stroke have more favorable outcomes and less complications when compared to older adults. Given the limited data on this topic, we aimed to provide more evidence on clinical outcomes and safety in such patients, using a large international thrombolysis registry.

Methods: In this prospective multicenter study, we used data from the Thrombolysis in Ischemic Stroke Patients (TRISP) registry from 1998 to 2020.

Expanding the Impact of New Cystic Fibrosis Therapies in Low- and Middle-Income Countries.

Background: Cystic fibrosis (CF) primarily affects Caucasian populations, with the highest prevalence in countries like Ireland, the UK, Australia, and Canada. Despite significant improvements in survival, pulmonary insufficiency remains the leading cause of death. Factors such as nutrition, chronic Pseudomonas aeruginosa (PsA) infection, genotype, pancreatic status, and cystic fibrosis-related diabetes affect pulmonary function across age groups.

A simple technique to improve docking time in robotic surgery.

The docking process is a crucial step in robotic surgery, which determines the technical capability of moving the robotic arms during surgery and affects the performance of surgery. Robotic companies, therefore, provide setup guides recommending the trocar placement, arm carts, and operating table positioning for each procedure or body quadrant, to facilitate this process. This process takes time and although improves with experience, reported docking times range from 4 to 29 min.

Prognostic Factors Associated With Increased Mortality in Pediatric Veno-Occlusive Disease Following Hematopoietic Cell Transplantation.

Background: Hepatic veno-occlusive disease (VOD) is a life-threatening complication of hematopoietic cell transplantation (HCT) and is categorized as a transplant-related, systemic endothelial disease. Severe VOD can lead to multi-organ dysfunction (MOF) and is associated with a high mortality rate.

Objective: To evaluate the incidence of VOD in children after HCT and analyze the outcomes and risk factors associated with increased mortality.

Follow-Up of Neonatal Hearing Screening in the Risk Factor Group for Hearing Loss: Results from a Tertiary Medical Center.

Introduction: Universal newborn hearing screening has been successfully implemented in many places around the world, and it is recommended that cases with risk factors for hearing loss be followed-up regardless of hearing screening results. However, there is a need for clarity regarding the recommended rate of follow-up and which tests should be performed. The aim of this study was to assess the audiologic follow-up program for the group with risk factors.

Adult Onset Foveomacular Vitelliform Dystrophy Shows Genetic Overlap With Age-Related Macular Degeneration.

Purpose: Adult-onset foveomacular vitelliform dystrophy (AFVD) shares phenotypic similarities with age-related macular degeneration (AMD). The genetic factors associated with AFVD are unknown in >80% of cases. This study evaluated the association of known AMD genetic risk variants with AFVD and compared systemic complement activation in these conditions.

Tumor analysis of BRCA carriers reveals genomic similarities although separated by time.

Among the dominant pathogenic genes (PG) in breast cancer are BRCA1/2. Knowing whether a patient carry one of these alterations is meaningful as it affects management. A substantial question is to what extent are the genomic profile of a tumor and its characteristics affected by the germline profile of BRCA1/2 and what is the possible contribution of other environmental factors.

[EMERGENCY MEDICAL SERVICES ACTIVATION FOR ANAPHYLAXIS DURING THE COVID-19 PANDEMIC: A RETROSPECTIVE STUDY FROM ISRAEL].

Introduction: During the first waves of COVID-19 in 2020, the public was confined to their homes due to closure instructions that applied to gatherings, celebrations, and restaurants, as well as voluntary self-isolation for fear of contagion. This seclusion affected, among other things, pre-hospital emergency medical services (EMS), which experienced a general decrease in their activity for trauma cases and routine medical problems. Other immediate life-saving events are cases of anaphylaxis.

World delirium awareness and quality survey in 2023-a worldwide point prevalence study.

Background: Delirium, an acute brain dysfunction, is proposed to be highly prevalent in clinical care and shown to significantly increase the risk of mortality and dementia.

Objectives: To report on the global prevalence of clinically documented delirium and delirium-related clinical practices in wards caring for paediatric and adult patients in healthcare facilities.

Design: A prospective, cross-sectional, 39-question survey completed on World Delirium Awareness Day, 15 March 2023.

Inferring DNA methylation in non-skeletal tissues of ancient specimens.

Genome-wide premortem DNA methylation patterns can be computationally reconstructed from high-coverage DNA sequences of ancient samples. Because DNA methylation is more conserved across species than across tissues, and ancient DNA is typically extracted from bones and teeth, previous works utilizing ancient DNA methylation maps focused on studying evolutionary changes in the skeletal system. Here we suggest that DNA methylation patterns in one tissue may, under certain conditions, be informative on DNA methylation patterns in other tissues of the same individual.

On bench evaluation of intraocular lenses: performance of a commercial interferometer.

NIMO-TEMPO is a metrology device that measures all types of intraocular lenses available in the ophthalmic market. Its technology, based on interferometry, captures the wavefront of the lens to compute optical results essential to evaluate its quality and understand its characteristics. This study aims to demonstrate the reliability of this device and its associated software, TEMPO-MENTOR, in measuring intraocular lenses.

Predicting tumour resistance to paclitaxel and carboplatin utilising genome-wide screening in haploid human embryonic stem cells.

Taxanes and platinum molecules, specifically paclitaxel and carboplatin, are widely used anticancer drugs that induce cell death and serve as first-line chemotherapy for various cancer types. Despite the efficient effect of both drugs on cancer cell proliferation, many tumours have innate resistance against paclitaxel and carboplatin, which leads to inefficient treatment and poor survival rates. Haploid human embryonic stem cells (hESCs) are a novel and robust platform for genetic screening.