[Emergency medicine : what's new in 2024].

Emergency medicine plays a crucial vital role as the gateway to the Swiss healthcare system. Although it has not yet been officially recognized with a specialist title, unlike most European countries - emergency medicine in Switzerland is characterized by robust research activity. This scientific article demonstrates a dynamic and rigorous evolution.

[Metabolic bone diseases : what's new in 2024].

The epidemiology of femoral fractures is changing, with more femoral shaft fractures linked to high-risk physical exercise by an older population. Vitamin D given during pregnancy for the mother's health could benefit the child. Zoledronic acid is the most effective bisphosphonate.

[Hypertension : what's new in 2024].

The major clinical studies in 2024 reviewed in this manuscript will focus on blood pressure measurement, the effect of coffee on the latter, its follow-up in the postpartum period, blood pressure targets for patients at high cardiovascular risk, particularly those with diabetes, and the late onset of primary aldosteronism after a negative initial confirmation test.

[Gynecology-obstetrics. Contribution of maternal haemodynamics during pregnancy].

Pregnancy leads to a progressive adaptation of the maternal vascular and cardiac systems. Blood pressure is an imperfect indicator of this adaptation, as it reflects cardiac output, vascular resistance, and circulatory volume. Increasingly, studies show that poor hemodynamic adaptation can predict or accompany maternal and/or foetal complications.

[Geriatrics. Focus on neurocognitive disorders].

Neurocognitive disorders are a major public health challenge, affecting 55 million people, and are projected to triple by 2050. This year's research highlights pathological mechanisms such as mitochondrial dysfunction and brain inflammation. Modifiable risk factors, such as vision loss, underscore the importance of early prevention.

[Dermatology. Doxy PEP and topical JAK inhibitors in inflammatory diseases].

This article focuses on two key innovations in dermatology: post-exposure prophylaxis for sexually transmitted infections (STIs) and new therapeutic options for inflammatory skin diseases. New European and American guidelines for doxycycline post-exposure prophylaxis (Doxy PEP) aim to prevent STIs in men who have sex with men (MSM) and individuals on HIV pre-exposure prophylaxis (PrEP). Doxy PEP is effective against syphilis and chlamydia, but its efficacy is limited by growing gonorrhea resistance.

[Visceral surgery : what's new in 2024].

This article highlights some advances in visceral surgery in 2024. In the hepato-pancreato-biliary field, liquid biopsies, immunotherapy, and robotics have revolutionized diagnosis and treatment, while artificial intelligence could enhance planning and operational safety. In endocrine surgery, a more conservative approach is recommended for well-differentiated thyroid cancers.

[Cardiology. Coronary and structural interventional cardiology].

The year 2024 has witnessed substantial advancements in interventional cardiology, encompassing both coronary and structural interventions.In coronary field, trials have explored percutaneous innovations for coronary lesions, strategies for managing post‑infarction cardiogenic shock and non‑invasive approaches for guiding revascularization. The uploaded guidelines for chronic coronary syndromes emphasize individualized care, integrating modalities such as fractional flow reserve (FFR), intravascular ultrasound (IVUS), optical coherence tomography (OCT) and new teatments, including cochicine, GLP-1 receptor agonists and bempedoic acid.

[Allergology : what's new in 2024].

In recent years, studies have focused on the in vitro diagnosis of immediate drug reactions, with new recommendations concerning the use of the basophil activation test. Air pollution, particularly fine particles with a diameter of less than or equal to 2.5 m (PM2.

Deciphering mixed infections by plant RNA virus and reconstructing complete genomes simultaneously present within-host.

Local co-circulation of multiple phylogenetic lineages is particularly likely for rapidly evolving pathogens in the current context of globalisation. When different phylogenetic lineages co-occur in the same fields, they may be simultaneously present in the same host plant (i.e.

Creating a national breastfeeding and lactation policy for Canadian surgical residents.

Background: Despite known benefits of breastfeeding and challenges medical trainees face lactating at work, research specific to Canadian surgical trainees is lacking. Our objectives were to examine existing breastfeeding and lactation policies, query experiences and opinions of surgical trainees and program directors, and propose a comprehensive policy for programs nation-wide.

Methods: A multi-disciplinary team developed this two-part study.

Deciphering the nature and statistical optimization of antimicrobial metabolites of two endophytic bacilli.

In this study, Allium sativum, garlic, was selected to isolate endophytic bacteria and to evaluate the antimicrobial, antiviral, antioxidant, and cytotoxic activities of their produced metabolites followed by identification of the biosynthetic gene cluster of the antimicrobial metabolites using Oxford Nanopore Technology (ONT). Two bacterial isolates, C6 and C11, were found to have a broad-spectrum antagonistic effect against four standard microbial strains and were molecularly identified using 16 S ribosomal RNA sequence analysis and deposited in a local culture collection as B. velezensis CCASU-C6, and B.

Clair3-RNA: A deep learning-based small variant caller for long-read RNA sequencing data.

Variant calling using long-read RNA sequencing (lrRNA-seq) can be applied to diverse tasks, such as capturing full-length isoforms and gene expression profiling. It poses challenges, however, due to higher error rates than DNA data, the complexities of transcript diversity, RNA editing events, etc. In this paper, we propose Clair3-RNA, the first deep learning-based variant caller tailored for lrRNA-seq data.

Nanopore adaptive sampling accurately detects nucleotide variants and improves the characterization of large-scale rearrangement for the diagnosis of cancer predisposition.

Background: Molecular diagnosis has become highly significant for patient management in oncology.

Methods: Here, 30 well-characterized clinical germline samples were studied with adaptive sampling to enrich the full sequence of 152 cancer predisposition genes. Sequencing was performed on Oxford Nanopore (ONT) R10.

Long-read structural and epigenetic profiling of a kidney tumor-matched sample with nanopore sequencing and optical genome mapping.

Carcinogenesis often involves significant alterations in the cancer genome, marked by large structural variants (SVs) and copy number variations (CNVs) that are difficult to capture with short-read sequencing. Traditionally, cytogenetic techniques are applied to detect such aberrations, but they are limited in resolution and do not cover features smaller than several hundred kilobases. Optical genome mapping (OGM) and nanopore sequencing [Oxford Nanopore Technologies (ONT)] bridge this resolution gap and offer enhanced performance for cytogenetic applications.

Small variant benchmark from a complete assembly of X and Y chromosomes.

The sex chromosomes contain complex, important genes impacting medical phenotypes, but differ from the autosomes in their ploidy and large repetitive regions. To enable technology developers along with research and clinical laboratories to evaluate variant detection on male sex chromosomes X and Y, we create a small variant benchmark set with 111,725 variants for the Genome in a Bottle HG002 reference material. We develop an active evaluation approach to demonstrate the benchmark set reliably identifies errors in challenging genomic regions and across short and long read callsets.

Telomere-to-telomere genome and resequencing of 254 individuals reveal evolution, genomic footprints in Asian icefish, Protosalanx chinensis.

The Asian icefish, Protosalanx chinensis, has undergone extensive colonization in various waters across China for decades due to its ecological and physiological significance as well as its economic importance in the fishery resource. Here, we decoded a telomere-to-telomere (T2T) genome for P. chinensis combining PacBio HiFi long reads and ultra-long ONT (nanopore) reads and Hi-C data.

Multiple introductions of NRCS-A to the neonatal intensive care unit drive neonatal bloodstream infections: a case-control and environmental genomic survey.

The NRCS-A strain has emerged as a global cause of late-onset sepsis associated with outbreaks in neonatal intensive care units (NICUs) whose transmission is incompletely understood. Demographic and clinical data for 45 neonates with and 90 with other coagulase-negative staphylococci (CoNS) isolated from sterile sites were reviewed, and clinical significance was determined. isolated from 27 neonates at 2 hospitals between 2017 and 2022 underwent long-read (ONT) (=27) and short-read (Illumina) sequencing (=18).

Targeted sequencing of bacteria using CRISPR-Cas9 enrichment and Oxford Nanopore Technologies.

Unlabelled: Sequencing DNA directly from patient samples enables faster pathogen characterization compared to traditional culture-based approaches, but often yields insufficient sequence data for effective downstream analysis. CRISPR-Cas9 enrichment is designed to improve the yield of low abundance sequences but has not been thoroughly explored with Oxford Nanopore Technologies (ONT) for use in clinical bacterial epidemiology. We designed CRISPR-Cas9 guide RNAs to enrich the human pathogen , by targeting multi-locus sequence type (MLST) and transfer RNA (tRNA) genes, as well as common antimicrobial resistance (AMR) genes and the resistance-associated integron gene .

Nanopore Data-Driven Chromosome-Level Assembly of Flax Genome.

Flax is an important crop grown for seed and fiber. Flax chromosome number is 2n = 30, and its genome size is about 450-480 Mb. To date, the genomes of several flax varieties have been sequenced and assembled.