The Solve-RD Solvathons as a pan-European interdisciplinary collaboration to diagnose patients with rare disease.

Despite advances in genomic diagnostics, the majority of individuals with rare diseases remain without a confirmed genetic diagnosis. The rapid emergence of advanced omics technologies, such as long-read genome sequencing, optical genome mapping and multiomic profiling, has improved diagnostic yield but also substantially increased analytical and interpretational complexity. Addressing this complexity requires systematic multidisciplinary collaboration, as recently demonstrated by targeted diagnostic workshops.

Effects of the decision on abortion and related service provision among sexual and reproductive health clinics in the United States: results from a qualitative study.

Since the release of the Supreme Court decision in June 2022, researchers have been working to better understand the impact that the growing number of abortion restrictions are having on the provision of and access to abortion services in the United States (US). Less is known about the impact of abortion restrictions on the provision of sexual and reproductive health (SRH) services more broadly, including at clinics that do not directly offer abortion. Between November 2023 and February 2024, we conducted interviews with SRH managers, clinic managers, and other administrators at publicly funded SRH clinics around the US to generate evidence on the effects of state-level abortion restrictions on the provision of abortion and related services, such as pregnancy options counselling and abortion referrals, at facilities providing contraceptive services.

The Elbow Ulnar Collateral Ligament Injury Prognosis Score.

Background: No model exists to predict which patients with elbow ulnar collateral ligament (UCL) injuries will successfully return to play (RTP) after nonoperative treatment. The reported rates for successful RTP after the nonoperative management of UCL injuries are limited and vary widely. Furthermore, patient and injury characteristics that influence the failure of nonoperative treatment have not been established.

3D Localization of Retrovirus Assembly in the Presence of Structured Background with Deep Learning.

Human immunodeficiency virus type 1 (HIV-1) particle assembly is driven by the Gag structural polyprotein and is a crucial step in the production of new virus particles. Elucidating the details of this process is necessary to fully understand the virus replication cycle. Real-time measurements of virus particle biogenesis in living cells have proved challenging, and most of our knowledge of this process to date has come from total internal fluorescence microscopy of labeled Gag at the bottom plasma membrane (PM) of adherent cells.

Randomised controlled trial of a low plastic diet and lifestyle intervention for adults with cardiometabolic risk factors: the Plastic Exposure Reduction Transforms Health (PERTH) trial - a protocol.

Introduction: Phthalates and bisphenols, chemicals commonly used in the production of plastic products, exhibit endocrine disrupting properties linked to obesity and systemic inflammation. Given the ubiquitous use of plastic chemicals, their adverse impact on human health is of great importance. In this protocol, we describe a randomised controlled trial aimed at testing whether minimising exposure to plastics and plastic-associated chemicals (PACs) in community-dwelling adults with cardiometabolic risk factors can reduce urinary excretion of PACs and improve cardiometabolic health.