Challenges of Engaging Primary Care Providers in Specialized Telementoring Education About Sickle Cell Disease for Sickle Cell Specialists: Results from the Sickle Cell Disease Training and Mentoring Program for Primary Care Providers (STAMP) Project ECHO.

Introduction: Sickle cell disease (SCD) is an inherited blood disorder affecting approximately 100,000 individuals in the U.S. A lack of knowledgeable providers, particularly for adult patients, has led to a significant number of adults without access to high-quality care.

Sharing Genomic Tumor Sequencing Results With Patients: Experiences of Advanced Practice Oncology Providers.

Background: Patients with cancer routinely undergo genomic tumor sequencing, a component of molecular profiling (MP), to better characterize their cancer and identify potential targetable alterations. Targeted treatments potentially confer higher response rates and better efficacy. With increasing complexity, patients may require detailed explanations of MP results.

Exploring the Therapeutic Potential for Breast Cancer of Phytochemicals and Secondary Metabolites in Marjoram, Thyme, and Persimmon.

: Breast cancer is the most common cause of death in women worldwide and the most commonly diagnosed cancer. Although several therapeutic approaches are widely used against breast cancer, their adverse effects often lead to symptoms severely affecting the quality of life. Alternative methods have been explored to reduce these adverse effects, and nutraceuticals have yielded promising results.

Women with Complex Vascular Anomalies: Impact on Contraception, Pregnancy and Reproductive Health.

Background: Literature is scarce regarding contraceptive and reproductive health in women with complex vascular anomalies (VA).

Objectives: To assess obstetrical, gynecological and reproductive health in this population.

Methods: Female adult patients of childbearing age from the VA clinic of a single tertiary care centre in Canada have been recruited by retrospective chart review, and administered phone interviews.

Improvement in cranial neuropathies following stereotactic radiotherapy as primary treatment for skull base meningiomas.

Purpose: Many patients with skull base meningiomas (SBMs) develop cranial neuropathies, though there is a paucity in literature regarding cranial neuropathy improvement following treatment. This is even more profound when isolating for patients who received stereotactic radiotherapy (SRT) as their primary treatment without additional open surgery. Our goal was to investigate the effect of SRT on cranial neuropathies secondary to SBMs and identify predictors of favourable treatment response.

Serum metabolome profiling in patients with mild cognitive impairment reveals sex differences in lipid metabolism.

Alzheimer's disease (AD) affects more women than men. Although women live longer than men, it is not longevity alone, but other factors, including metabolic changes, that contribute to the higher risk of AD in women. Metabolic pathways have been implicated in AD progression, but studies to date examined targeted pathways, leaving many metabolites unmeasured.

Impact of Substance Use Disorder on Tryptophan Metabolism Through the Kynurenine Pathway: A Narrative Review.

: Substance use disorder is a crisis impacting many people in the United States. This review aimed to identify the effect addictive substances have on the kynurenine pathway. Tryptophan is an essential amino acid metabolized by the serotonin and kynurenine pathways.

Payer perspectives on genomic testing in the United States: A systematic literature review.

Purpose: Health care stakeholders' perspectives on the value of genomic testing vary widely and directly affect the access and practice of genomic medicine. To our knowledge, a review of US health care payers' perspectives on genomic testing has not been performed.

Methods: We conducted a systematic literature review of US payers' perspectives on genomic testing in the MEDLINE, PubMed, and Cumulative Index to Nursing and Allied Health Literature (CINAHL) databases.

The Multi-State Epigenetic Pacemaker enables the identification of combinations of factors that influence DNA methylation.

Epigenetic clocks, DNA methylation-based predictive models of chronological age, are often utilized to study aging associated biology. Despite their widespread use, these methods do not account for other factors that also contribute to the variability of DNA methylation data. For example, many CpG sites show strong sex-specific or cell-type-specific patterns that likely impact the predictions of epigenetic age.

The Presence of Pigment Incontinence in Sinonasal Mucosal Melanoma.

Background: Regression is an immunological phenomenon described in cutaneous melanoma whereby tumor is replaced with tumor-infiltrating lymphocytes, granulation tissue, and mature fibroblasts often accompanied by pigment incontinence (accumulation of melanin in the upper dermis). Pigment incontinence results in grossly pigmented lesions that may be mistaken for viable tumor and has not been described in sinonasal mucosal melanoma (SNMM). This study investigates the presence of regression and pigment incontinence in patients with SNMM.

NCBI RefSeq: reference sequence standards through 25 years of curation and annotation.

Reference sequences and annotations serve as the foundation for many lines of research today, from organism and sequence identification to providing a core description of the genes, transcripts and proteins found in an organism's genome. Interpretation of data including transcriptomics, proteomics, sequence variation and comparative analyses based on reference gene annotations informs our understanding of gene function and possible disease mechanisms, leading to new biomedical discoveries. The Reference Sequence (RefSeq) resource created at the National Center for Biotechnology Information (NCBI) leverages both automatic processes and expert curation to create a robust set of reference sequences of genomic, transcript and protein data spanning the tree of life.

Population pharmacokinetics and exposure-response relationships of maribavir in transplant recipients with cytomegalovirus infection.

Maribavir is approved for management of post-transplant cytomegalovirus (CMV) infections refractory and/or resistant to CMV therapies at a dose of 400 mg twice daily (BID). Population pharmacokinetic (PopPK) and exposure-response analyses were conducted to support the appropriateness of 400 mg BID dosing. A PopPK model was developed using non-linear mixed-effects modeling with pooled maribavir plasma concentration-time data from phase 1 and 2 studies (from 100 mg up to 1200 mg as single or repeated doses) and the phase 3 SOLSTICE study (400 mg BID).

A genome assembly and transcriptome atlas of the inbred Babraham pig to illuminate porcine immunogenetic variation.

The inbred Babraham pig serves as a valuable biomedical model for research due to its high level of homozygosity, including in the major histocompatibility complex (MHC) loci and likely other important immune-related gene complexes, which are generally highly diverse in outbred populations. As the ability to control for this diversity using inbred organisms is of great utility, we sought to improve this resource by generating a long-read whole genome assembly and transcriptome atlas of a Babraham pig. The genome was de novo assembled using PacBio long reads and error-corrected using Illumina short reads.

CPAP-induced sphenoid sinus pressures after endoscopic sinus surgery.

Positive pressure transmitted from continuous positive airway pressure (CPAP) to the sinuses and skull base in the early post-operative period has not been studied in live subjects and controversy exists in when to restart this post-operatively. This study found that approximately 32.76% and 13.

Designing measures of complex collaborations with participatory, evidence-centered design.

An increasingly popular form of collaboration involves forming partnerships among researchers, educators, and community members to improve or transform education systems through research inquiry. However, not all partnerships are successful. The field needs valid, reliable, and useful measures to help with assessing progress toward partnership goals.

Model-informed Evidence for Clinical Non-inferiority of Every-2-Weeks Versus Standard Weekly Dosing Schedule of Cetuximab in Metastatic Colorectal Cancer.

Cetuximab was initially developed and approved as a first-line treatment in patients with unresectable metastatic colorectal cancer (mCRC) for weekly administration (250 mg/m Q1W with 400 mg/m loading dose). An every-2-weeks schedule (500 mg/m Q2W) was approved recently by several health authorities. Being synchronized with chemotherapy, Q2W administration should improve patients' convenience and healthcare resource utilization.

SHIELD: Skull-shaped hemispheric implants enabling large-scale electrophysiology datasets in the mouse brain.

To understand the neural basis of behavior, it is essential to measure spiking dynamics across many interacting brain regions. Although new technologies, such as Neuropixels probes, facilitate multi-regional recordings, significant surgical and procedural hurdles remain for these experiments to achieve their full potential. Here, we describe skull-shaped hemispheric implants enabling large-scale electrophysiology datasets (SHIELD).