Survey of Urogynecology Fellows on the Care of Patients with Differences in Sex Development/Intersex Traits.

Introduction And Hypothesis: Patients with differences in sex development or intersex traits (DSD/I) struggle to find clinically competent care in adulthood. We sought to describe the surgical exposure of Urogynecology and Reconstructive Pelvic Surgery (URPS) fellows who had previously trained in ObGyn (URPS-Gyn) to patients with DSD/I and their interest in performing 18 relevant procedures. We hypothesized that most graduating fellows would not have had exposure to many of the surgeries.

Associations of blood pressure with white matter hyperintensities later in life; influence of short-term menopausal hormone therapy.

Objective: To assess the association of systolic and diastolic blood pressure (SBP and DBP) in recently menopausal women with white matter hyperintensity (WMH) volume later in life and determine whether short-term menopausal hormone therapy (mHT) modifies these associations.

Methods: Kronos Early Estrogen Prevention Study (KEEPS) was a multicenter, randomized, double-blinded, placebo-controlled 4-year mHT trial (oral conjugated equine estrogens or transdermal 17β-estradiol). KEEPS continuation was an observational follow-up of the participants 10 years after the end of mHT.

Sex, sexual orientation, and gender identity data collection across electronic health record platforms: a national cross-sectional survey.

Objectives: To assess the current state of sex, sexual orientation, and gender identity (SSOGI) data collection options in US electronic health record (EHR) platforms.

Materials And Methods: We utilized an anonymous survey distributed via purposive snowball sampling to assess EHR platforms across the United States.

Results: Of 90 surveys started, 41 (45.

Large Language Models for Automated Synoptic Reports and Resectability Categorization in Pancreatic Cancer.

Background Structured radiology reports for pancreatic ductal adenocarcinoma (PDAC) improve surgical decision-making over free-text reports, but radiologist adoption is variable. Resectability criteria are applied inconsistently. Purpose To evaluate the performance of large language models (LLMs) in automatically creating PDAC synoptic reports from original reports and to explore performance in categorizing tumor resectability.

Effects of Race and Gender Classifications on Atherosclerotic Cardiovascular Disease Risk Estimates for Clinical Decision-Making in a Cohort of Black Transgender Women.

Introduction: Despite their dynamic, socially constructed, and imprecise nature, both race and gender are included in common risk calculators used for clinical decision-making about statin therapy for atherosclerotic cardiovascular disease (ASCVD) prevention.

Methods And Materials: We assessed the effect of manipulating six different race-gender categories on ASCVD risk scores among 90 Black transgender women.

Results: Risk scores varied by operationalization of race and gender and affected the proportion for whom statins were recommended.

Reverse metabolomics for the discovery of chemical structures from humans.

Determining the structure and phenotypic context of molecules detected in untargeted metabolomics experiments remains challenging. Here we present reverse metabolomics as a discovery strategy, whereby tandem mass spectrometry spectra acquired from newly synthesized compounds are searched for in public metabolomics datasets to uncover phenotypic associations. To demonstrate the concept, we broadly synthesized and explored multiple classes of metabolites in humans, including N-acyl amides, fatty acid esters of hydroxy fatty acids, bile acid esters and conjugated bile acids.

European and multi-ancestry genome-wide association meta-analysis of atopic dermatitis highlights importance of systemic immune regulation.

Atopic dermatitis (AD) is a common inflammatory skin condition and prior genome-wide association studies (GWAS) have identified 71 associated loci. In the current study we conducted the largest AD GWAS to date (discovery N = 1,086,394, replication N = 3,604,027), combining previously reported cohorts with additional available data. We identified 81 loci (29 novel) in the European-only analysis (which all replicated in a separate European analysis) and 10 additional loci in the multi-ancestry analysis (3 novel).

Improving the cardiovascular health care of transgender and non-binary persons.

Research consistently shows that gender-affirming practices improve markers of cardiovascular health. Consequently, the focus of the management of the cardiovascular health of transgender and non-binary populations should not be on their hormone therapies and surgical histories, but should instead be rooted in the routine screening of cardiovascular risk factors.

On, With, By-Advancing Transgender Health Research and Clinical Practice.

To advance the fields of transgender health research and clinical care and center trans-led scholarship, there must be an acknowledgment of the consolidated power in cisgender hands and the subsequent need to redistribute such power to trans experts and burgeoning trans leaders. To redress the social structures that cause harm and limit opportunities for trans persons to lead, current cisgender leaders can take actions including deferring opportunities to trans persons to ensure a redistribution of power and resources to trans experts. This article presents necessary steps to recruit, collaborate, and elevate trans experts.

Stratification of risk of progression to colectomy in ulcerative colitis via measured and predicted gene expression.

An important goal of clinical genomics is to be able to estimate the risk of adverse disease outcomes. Between 5% and 10% of individuals with ulcerative colitis (UC) require colectomy within 5 years of diagnosis, but polygenic risk scores (PRSs) utilizing findings from genome-wide association studies (GWASs) are unable to provide meaningful prediction of this adverse status. By contrast, in Crohn disease, gene expression profiling of GWAS-significant genes does provide some stratification of risk of progression to complicated disease in the form of a transcriptional risk score (TRS).

Harmonization of Outcomes and Vision Endpoints in Vision Restoration Trials: Recommendations from the International HOVER Taskforce.

Translational research in vision prosthetics, gene therapy, optogenetics, stem cell and other forms of transplantation, and sensory substitution is creating new therapeutic options for patients with neural forms of blindness. The technical challenges faced by each of these disciplines differ considerably, but they all face the same challenge of how to assess vision in patients with ultra-low vision (ULV), who will be the earliest subjects to receive new therapies. Historically, there were few tests to assess vision in ULV patients.

Nine-year prospective efficacy and safety of brain-responsive neurostimulation for focal epilepsy.

Objective: To prospectively evaluate safety and efficacy of brain-responsive neurostimulation in adults with medically intractable focal onset seizures (FOS) over 9 years.

Methods: Adults treated with brain-responsive neurostimulation in 2-year feasibility or randomized controlled trials were enrolled in a long-term prospective open label trial (LTT) to assess safety, efficacy, and quality of life (QOL) over an additional 7 years. Safety was assessed as adverse events (AEs), efficacy as median percent change in seizure frequency and responder rate, and QOL with the Quality of Life in Epilepsy (QOLIE-89) inventory.

BACE1 partial deletion induces synaptic plasticity deficit in adult mice.

BACE1 is the first enzyme involved in APP processing, thus it is a strong therapeutic target candidate for Alzheimer's disease. The observation of deleterious phenotypes in BACE1 Knock-out (KO) mouse models (germline and conditional) raised some concerns on the safety and tolerability of BACE1 inhibition. Here, we have employed a tamoxifen inducible BACE1 conditional Knock-out (cKO) mouse model to achieve a controlled partial depletion of BACE1 in adult mice.

Effect of Genetic Diagnosis on Patients with Previously Undiagnosed Disease.

Background: Many patients remain without a diagnosis despite extensive medical evaluation. The Undiagnosed Diseases Network (UDN) was established to apply a multidisciplinary model in the evaluation of the most challenging cases and to identify the biologic characteristics of newly discovered diseases. The UDN, which is funded by the National Institutes of Health, was formed in 2014 as a network of seven clinical sites, two sequencing cores, and a coordinating center.