Connecting electronic health records to a biomedical knowledge graph to link clinical phenotypes and molecular endotypes in atopic dermatitis.

Precision medicine is defined by the U.S. Food & Drug Administration as "an innovative approach to tailoring disease prevention and treatment that considers differences in people's genes, environments, and lifestyles".

Segmental analysis of human hair reveals intra-annual variation in 25(OH)D concentrations in modern and archaeological individuals.

Vitamin D is essential for healthy skeletal growth and is increasingly recognised for its role in chronic disease development, inflammation and immunity. 25-hydroxyvitamin D (25(OH)D) concentrations are an indicator of vitamin D status and are normally analysed in plasma or serum samples in clinical settings, while archaeological studies rely on the identification of skeletal markers of vitamin D deficiency, such as rickets. Here, we determined 25(OH)D concentrations in hair specimens ('locks') that had been sampled close to the root, aligned by cut end, and sliced into sequential segments from participants (n = 16), from Aberdeen, Scotland, using a modified protocol designed to minimise sample size.

An epigenetic memory at the CYP1A gene in cancer-resistant, pollution-adapted killifish.

Human exposure to polycyclic aromatic hydrocarbons (PAH) is a significant public health problem that will worsen with a warming climate and increased large-scale wildfires. Here, we characterize an epigenetic memory at the cytochrome P450 1 A (CYP1A) gene in wild Fundulus heteroclitus that have adapted to chronic, extreme PAH pollution. In wild-type fish, CYP1A is highly induced by PAH.

Unraveling complexity and leveraging opportunities in uncommon breast cancer subtypes.

Special histologic subtypes of breast cancer (BC) exhibit unique phenotypes and molecular profiles with diagnostic and therapeutic implications, often differing in behavior and clinical trajectory from common BC forms. Novel methodologies, such as artificial intelligence may improve classification. Genetic predisposition plays roles in a subset of cases.

Gate- and flux-tunable sin(2φ) Josephson element with planar-Ge junctions.

Hybrid superconductor-semiconductor Josephson field-effect transistors (JoFETs) function as Josephson junctions with gate-tunable critical current. Additionally, they can feature a non-sinusoidal current-phase relation (CPR) containing multiple harmonics of the superconducting phase difference, a so-far underutilized property. Here we exploit this multi-harmonicity to create a Josephson circuit element with an almost perfectly π-periodic CPR, indicative of a largely dominant charge-4e supercurrent transport.

Aerobiology matters: Why people in the community access pollen information and how they use it.

Background: Globally, many pollen monitoring networks provide the community with daily pollen information, but there are limited data on health consumer uses and benefits. This research investigated why individuals in the community access pollen information, how they use it, and the perceived benefits.

Methods: In- and post-pollen season surveys (2017-2018 and 2018-2019) enquired about symptoms, diagnoses, symptom management, access, benefits and usefulness of pollen information provided by the AusPollen Partnership.

The influence of positive and negative intraoperative feedback in laparoscopic simulation in pediatric urology training.

Background And Objective: This study aimed to explore the impact of positive or negative feedback on the performance of trainees in pediatric urology during simulation exercises in pediatric laparoscopy.

Methods: Twenty-five students enrolled in a national Pediatric Urology Laparoscopy Simulation participated in the study. They performed the Fundamentals of Laparoscopic Surgery (FLS) skills, specifically peg-transfer and intracorporeal knot-tying, in a randomized study design while receiving positive or negative feedback from an attending pediatric urologist.

BRAF and MEK inhibitors rechallenge after an adverse drug reaction in patients with cancer: A pharmacovigilance cohort study.

Importance: The safety profile of a rechallenge with BRAF inhibitors (BRAFi) or a combination of BRAF and MEK inhibitors (MEKi) following an adverse drug reaction (ADR) remains largely unexplored.

Objective: To identify the reported recurrence rate of the same ADR after a BRAFi±MEKi targeted therapy (TT) rechallenge in patients with cancer and to identify factors associated with recurrence.

Design, Setting, And Participants: In this observational, pharmacovigilance study, ADR reports were sourced from VigiBase, the World Health Organization database.

A Call for a Neoadjuvant Kidney Cancer Consortium: Lessons Learned from Other Cancer Types.

Neoadjuvant systemic treatment strategies have improved outcomes in several solid tumour types. This success has not yet been replicated in renal cell carcinoma (RCC). A consensus and international collaboration are urgently needed for the development of adaptive perioperative immunotherapy strategies for patients with RCC at high risk of recurrence.

Patient-reported outcomes in sarcopenia: An ICFSR task force report.

The International Conference on Frailty and Sarcopenia Research (ICFSR) Task Force convened in March 2024 to address patient-reported outcomes measures (PROMs) in the field of sarcopenia. PROMs are crucial to enhance healthcare services at both individual and societal levels. PROMs complement objective outcome measures by capturing insights that patients are best suited to judge.

Body composition of older adults with normal body mass index. Cross-sectional analysis of the Toulouse Frailty clinic.

Background: Body mass index (BMI) determines general corpulence and health, whatever age, sex or clinical background. Normal BMI (18.5-24.

Characterization of Culicoides and mosquito fauna at the National Zoological Garden of Rabat, Morocco.

Zoos are considering to be essential places for the conservation of wild animal species. It is essential to prevent their infection by pathogens especially for those belonging to threatened or extinct species. Zoo captive animals are susceptible to several Culicoides and mosquito borne-viruses.

Forensic analysis of an alleged improvised explosive device (IED) from a multidisciplinary perspective: Organisation and outcomes of the ENFSI 2023 exercise.

Interdisciplinary examination of test materials requires careful consideration of how forensic routines can influence each other. This influence can be direct and obvious, or indirect and subtle. A multidisciplinary collaborative exercise (MdCE) should test a forensic laboratory's ability to account for these difficulties.

International benchmarking of stage at diagnosis for six childhood solid tumours (the BENCHISTA project): a population-based, retrospective cohort study.

Background: International variation in childhood cancer survival might be explained by differences in stage at diagnosis, among other factors. As part of the BENCHISTA project, we aimed to assess geographical variation in tumour stage at diagnosis through the application, by population-based cancer registries working with clinicians, of the international consensus Toronto Childhood Cancer Stage Guidelines.

Methods: This population-based, retrospective cohort study involved 67 cancer registries from 23 European countries, Australia, Brazil, Japan, and Canada.

Characteristics of children and adolescents with multidrug-resistant and rifampicin-resistant tuberculosis and their association with treatment outcomes: a systematic review and individual participant data meta-analysis.

Background: There are few data on the treatment of children and adolescents with multidrug-resistant (MDR) or rifampicin-resistant (RR) tuberculosis, especially with more recently available drugs and regimens. We aimed to describe the clinical and treatment characteristics and their associations with treatment outcomes in this susceptible population.

Methods: We conducted a systematic review and individual participant data meta-analysis.

Real-world treatment patterns and clinical characteristics in patients with moderate-to-severe systemic lupus erythematosus: an analysis of the SLE Prospective Observational Cohort Study (SPOCS).

Objectives: Systemic lupus erythematosus (SLE) is a disease with heterogeneous treatment patterns largely based on organ involvement and disease severity. The SLE Prospective Observational Cohort Study (SPOCS) collected data worldwide over 3 years from patients with moderate-to-severe SLE. We report real-world patterns of medication use in patients enrolled in SPOCS.

Clinical outcomes of patients with unsuccessful mechanical thrombectomy versus best medical management of medium vessel occlusion stroke in the middle cerebral artery territory.

Background: Current randomized controlled trials are investigating the efficacy and safety of mechanical thrombectomy (MT) in patients with medium vessel occlusion (MeVO) stroke. Whether best medical management (MM) is more efficient than unsuccessful vessel recanalization during MT remains unknown.

Methods: This was a retrospective cohort study using data from 37 academic centers across North America, Asia, and Europe between September 2017 and July 2021.

Nanoscale Probing of the Organic Binder in Artists' Paint Layers: Organic Phases and Chemical Heterogeneity.

Understanding paint structures at the nanoscopic level can address key questions related to artistic techniques, paint formulation, and long-term preservation of artworks. This involves examining spatial chemical complexity, the formation of molecular networks, and interactions between organic and inorganic constituents. Depending on the paint preparation methods, proteins and drying oils, the most common binders in traditional artistic practices, can be integrated to produce paints with diverse structures and nanoscale chemical intricacies.

Detection of fungal pathogens by a histomolecular approach using targeted-massive parallel sequencing on formalin-fixed tissues: a retrospective study.

Objectives: Since fungal infections (FI) are frequently encountered by pathologists, it is crucial to improve fungal diagnosis on formalin-fixed paraffin-embedded tissues (FT). We aimed to investigate if a histomolecular approach using targeted-massive parallel sequencing (MPS) could help detect and identify fungi on FT, when no mycological diagnosis is available on fresh tissue.

Methods: Forty-nine FT from 48 patients with histopathological FI diagnosis but without mycological identification were retrospectively included.

Laparoscopic approach for rectal cancer surgery: Triumph of reason or necessity of evolution?

The role of laparoscopy in rectal cancer surgery has evolved considerably since the early 2000s. Initial randomized trials, such as COLOR II and COREAN, indicated that laparoscopic approaches offered similar pathological outcomes with better postoperative recovery than open surgery. In contrast, trials like ACOSOG Z6051 and ALaCaRT suggested noninferiority could not be established.

In vitro bisphenol A impairs testicular energy metabolism and spermatogenesis through nuclear estrogen receptors activation in zebrafish.

This study investigated the effects of bisphenol A (BPA) and the involvement of nuclear estrogen receptors (ESR) on testicular energy metabolism and spermatogenesis in zebrafish. Testes were incubated with DMSO, 10 pM or 10μM BPA for 6 or 72h, with some samples pre-incubated with the ESRα/β antagonist ICI 182,780. Gene and protein expressions were analyzed using real-time PCR and Western blot, respectively.

Impedance-based method for the quantification of infectious SARS-CoV-2.

Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) is the etiologic agent involved in the coronavirus disease 2019 (COVID-19) pandemic. The development of infectious titration methods is crucial to provide data for a better understanding of transmission routes, as well as to validate the efficacy of inactivation treatments. Nevertheless, the low-throughput analytical capacity of traditional methods may be a limiting factor for a large screening of samples.

[Review of practices concerning the delivery of an international implant card following the implantation of a medical device.].

Introduction: The European regulation 2017/745 requires the delivery of an international implant card to the patient following the implantation of implantable medical devices (IMD). Currently, there are no procedure to describe the process for providing traceability documents to patients in our institution. The objective of this work was to evaluate the practices of the various departments concerned in our institution and to think about actions to meet the current regulation.