Visualization using NIPTviewer support the clinical interpretation of noninvasive prenatal testing results.

Background: Noninvasive prenatal testing (NIPT) is increasingly used to screen for fetal chromosomal aneuploidy by analyzing cell-free DNA (cfDNA) in peripheral maternal blood. The method provides an opportunity for early detection of large genetic abnormalities without an increased risk of miscarriage due to invasive procedures. Commercial applications for use at clinical laboratories often take advantage of DNA sequencing technologies and include the bioinformatic workup of the sequence data.

Breast implant silicone exposure induces immunogenic response and autoimmune markers in human periprosthetic tissue.

Silicone-based breast implants are commonly used, but there are concerns about their long-term safety. While implantation results in the formation of a periprosthetic tissue that isolates the implant from the rest of the host body, silicone can leak and reach surrounding tissues. We combined histological analysis and gene expression profiling (RNA sequencing) of samples from human patients with silicone breast implants with different fillers (silicone or serum), surface topographies and/or shell rupture, and performed systematic cross-comparisons.

New saga in Finland: The rise of Diplodia sapinea in Scots pine.

The intensity of fungal virulence is likely to increase in northern forests as climate change alters environmental conditions, favoring pathogen proliferation in existing ecosystems while also facilitating their expansion into new geographic areas. In Finland, Diplodia sapinea, the causal agent of disease called "Diplodia tip blight", has emerged as a new pathogen within the past few years. To reveal the current distribution of the novel fungal pathogen, and the effect of temperature and rainfall on its distribution, we utilized citizen science for the detection and collection of symptomatic Scots pine (Pinus sylvestris) shoots.

Gender differences in operational and cognitive abilities.

Introduction: Gender differences in cognitive and operational abilities have been identified. Yet, their interrelationship remains underexplored. This prevents tailored evidence-based selection, allowing discrimination to persist.

A national long-read sequencing study on chromosomal rearrangements uncovers hidden complexities.

Clinical genetic laboratories often require a comprehensive analysis of chromosomal rearrangements/structural variants (SVs), from large events like translocations and inversions to supernumerary ring/marker chromosomes and small deletions or duplications. Understanding the complexity of these events and their clinical consequences requires pinpointing breakpoint junctions and resolving the derivative chromosome structure. This task often surpasses the capabilities of short-read sequencing technologies.

Using noninvasive imaging to assess manual lymphatic drainage on lymphatic/venous responses in a spaceflight analog.

This retrospective case series (clinicaltrials.gov NCT06405282) used noninvasive imaging devices (NIID) to assess the effect of manual lymphatic drainage (MLD) on dermal/venous fluid distribution, perfusion, and temperature alterations of the head, neck, upper torso, and legs while in the 6-degree head-down tilt validated spaceflight analog. A lymphatic fluid scanner measured tissue dielectric constant levels.

Executive Summary: State-of-the-Art Review: Evaluation and Management of Pelvic Osteomyelitis in Stage IV Pressure Injuries: A Multidisciplinary Collaborative Approach.

Managing pelvic osteomyelitis (POM) in the setting of stage IV pressure injuries requires multidisciplinary evaluation as well as patient and caregiver engagement and is complicated by the lack of high-evidence data to guide best practices. In this review, we describe our approach to pressure injury and POM evaluation and management through multidisciplinary collaboration and highlight areas of future research that are necessary to enhance patient outcomes, reduce healthcare costs, and improve the quality of life of those affected by POM.

The relative age effect in selection of ab initio pilots-Revisiting Gladwell's famous claims.

A relative age effect (RAE) has been found in education and sports, with students born earlier in the school year attaining higher levels of success. This was brought into public consciousness through Malcom Gladwell's However, the effect has not been thoroughly examined in other contexts. Thus, with regards to the context dependency of the RAE, and the specificity of which abilities it affects, there are unknowns.

Visualization and analysis of medically relevant tandem repeats in nanopore sequencing of control cohorts with pathSTR.

The lack of population-scale databases hampers research and diagnostics for medically relevant tandem repeats and repeat expansions. We attempt to fill this gap using our pathSTR web tool, which leverages long-read sequencing of large cohorts to determine repeat length and sequence composition in a healthy population. The current version includes 1040 individuals of The 1000 Genomes Project cohort sequenced on the Oxford Nanopore Technologies PromethION.

Case Report: The effect of automated manual lymphatic drainage therapy on lymphatic contractility in 4 distinct cases.

Introduction: Automated manual lymphatic drainage therapy (AMLDT) is available for home use in the form of a pneumatic mat of 16 pressurized air channels that inflate and deflate to mimic the stretch and release action of manual lymphatic drainage therapy. Four cases (a patient with complex regional pain syndrome and lymphedema, a healthy patient, a breast cancer survivor with chronic pain, and a patient with a history of abdominal surgery) underwent near-infrared fluorescence lymphatic imaging (NIRFLI) with AMLDT to evaluate the effect of AMLDT on lymphatic pumping and pain.

Methods: Each patient received 32-36 injections of 25 μg indocyanine green (ICG) on the anterior and posterior sides of their body and underwent 1 h of NIRFLI to assess the drainage of ICG laden lymph toward regional nodal basins at baseline.

Optic disc edema during strict 6° head-down tilt bed rest is related to one-carbon metabolism pathway genetics and optic cup volume.

Some astronauts on International Space Station missions experience neuroophthalmological pathologies as part of spaceflight associated neuro-ocular syndrome (SANS). Strict head-down tilt bed rest (HDTBR) is a spaceflight analog that replicates SANS findings and those who had 3-4 risk alleles (G and C alleles from the methionine synthase reductase [MTRR] A66G and serine hydroxymethyltransferase [SHMT1] C1420T, respectively) as compared to 1-2 risk alleles, had a greater increase in total retinal thickness (TRT). The objective of this study was to identify factors that contribute to the individual variability of the development of SANS in a 60 d HDTBR at the German Aerospace Center's:envihab facility, Cologne Germany.

Factors associated with approaching Pilot Peer Support: a cross-sectional study.

Background: Pilot Peer Support Programs (PPSP) have been introduced in Europe as a measure to facilitate commercial pilots' mental health help-seeking in a confidential and non-punitive manner. However, research is scarce regarding what promotes and prevents pilots from approaching PPSP.

Aims: To investigate if, and in which way, different organizational and individual factors are associated with pilots' attitudes towards approaching PPSP, and to examine the prevalence of possible cases of depression and anxiety disorders among commercial pilots in Europe.

Adipokine secretion and lipolysis following gender-affirming treatment in transgender individuals.

Background: The organ-specific effects of gender-affirming sex hormone treatment (GAHT) in transgender women (TW) and transgender men (TM) are insufficiently explored. This study investigated the effects of GAHT on adipose tissue function.

Methods: In a single-center interventional prospective study, 32 adults undergoing GAHT, 15 TW and 17 TM, were examined with anthropometry and abdominal subcutaneous adipose tissue biopsies obtained before initiation of treatment, 1 month after endogenous sex hormone inhibition and three and 11 months after initiated GAHT.

Large scale, simultaneous, chronic neural recordings from multiple brain areas.

Understanding how brain activity is related to animal behavior requires measuring multi-area interactions on multiple timescales. However, methods to perform chronic, simultaneous recordings of neural activity from many brain areas are lacking. Here, we introduce a novel approach for independent chronic probe implantation that enables flexible, simultaneous interrogation of neural activity from many brain regions during head restrained or freely moving behavior.

DREDge: robust motion correction for high-density extracellular recordings across species.

High-density microelectrode arrays (MEAs) have opened new possibilities for systems neuroscience in human and non-human animals, but brain tissue motion relative to the array poses a challenge for downstream analyses, particularly in human recordings. We introduce DREDge (Decentralized Registration of Electrophysiology Data), a robust algorithm which is well suited for the registration of noisy, nonstationary extracellular electrophysiology recordings. In addition to estimating motion from spikes in the action potential (AP) frequency band, DREDge enables automated tracking of motion at high temporal resolution in the local field potential (LFP) frequency band.

An adaptable, reusable, and light implant for chronic Neuropixels probes.

Electrophysiology has proven invaluable to record neural activity, and the development of Neuropixels probes dramatically increased the number of recorded neurons. These probes are often implanted acutely, but acute recordings cannot be performed in freely moving animals and the recorded neurons cannot be tracked across days. To study key behaviors such as navigation, learning, and memory formation, the probes must be implanted chronically.

Highly pathogenic avian influenza A(H5N1) virus infection on multiple fur farms in the South and Central Ostrobothnia regions of Finland, July 2023.

Since mid-July 2023, an outbreak caused by highly pathogenic avian influenza A(H5N1) virus clade 2.3.4.