Functional variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with increased risk of colorectal cancer.

Background: Individuals with cystic fibrosis (CF; a recessive disorder) have an increased risk of colorectal cancer (CRC). Evidence suggests individuals with a single CFTR variant may also have increased CRC risk.

Methods: Using population-based studies (GECCO, CORECT, CCFR, and ARIC; 53 785 CRC cases and 58 010 controls), we tested for an association between the most common CFTR variant (Phe508del) and CRC risk.

Nursing knowledge in cardio-oncology: results of an international learning needs-assessment survey.

Background: With early detection and improvements in systemic and local therapies, millions of people are surviving cancer, but for some at a high cost. In some cancer types, cardiovascular disease now competes with recurrent cancer as the cause of death. Traditional care models, in which the cardiologist or oncologist assess patients individually, do not address complex cancer and cardiovascular needs.

Mitigating bias in AI mortality predictions for minority populations: a transfer learning approach.

Background: The COVID-19 pandemic has highlighted the crucial role of artificial intelligence (AI) in predicting mortality and guiding healthcare decisions. However, AI models may perpetuate or exacerbate existing health disparities due to demographic biases, particularly affecting racial and ethnic minorities. The objective of this study is to investigate the demographic biases in AI models predicting COVID-19 mortality and to assess the effectiveness of transfer learning in improving model fairness across diverse demographic groups.

Dietary carbohydrate intake and risk of type 2 diabetes: a 16-year prospective cohort study.

Despite considerable research underscoring the importance of carbohydrate intake in relation to the risk of type 2 diabetes (T2D), a comprehensive assessment of this relationship is currently lacking. We aimed to examine the associations of various types and food sources of dietary carbohydrate intake with the risk of T2D, to evaluate potential effect modification by other factors, including genetic susceptibility, and to explore the potential mediators for such associations. The present study included 161,872 participants of the UK Biobank who were free of prevalent cancer, cardiovascular disease, or diabetes, and had at least one validated 24-h dietary recall assessment.

Optimising diagnostics for hard-of-hearing infants: factors associated with successful MRI scanning without general anaesthesia.

Purpose: Scanning during infancy is often required in otology, preferably without general anaesthesia. This study aims to determine the success rate of MRI of the head without general anaesthesia for infants, and to identify predictors for a successful scan.

Methods: Data was extracted from the electronic patient file for patients who received MRI of the head without general anaesthesia between 01-01-2019 and 31-12-2022 at an age younger than 6 months.

Why I Discourage "ED Course" in Oral Patient Presentations.

Trainees frequently present data, including vital signs, laboratory test results, and imaging results, just after the history or presenting illness in a section labeled "ED Course." This practice distracts from the history and physical and decenters the patient as the most valuable source of diagnostic data. Reformatting presentations to appropriately present objective data after the complete history may improve diagnosis and refocuses attention on the patient.

The Impact of COVID-19 on the Division of Household Labor Among Women Physicians and Advanced Practice Providers.

Background: COVID-19 increased the burden of childcare on parents, leaving women vulnerable to increased disparities in the division of domestic labor. Women healthcare workers may be at heightened risk of worsening gender parity in the workplace as a result.

Objective: To examine the impact of the COVID-19 pandemic on gender parity in the division of household responsibilities among women healthcare workers.

Tucatinib and trastuzumab in HER2-mutated metastatic breast cancer: a phase 2 basket trial.

Human epidermal growth factor receptor 2 (HER2, also known as ERBB2) signaling promotes cell growth and differentiation, and is overexpressed in several tumor types, including breast, gastric and colorectal cancer. HER2-targeted therapies have shown clinical activity against these tumor types, resulting in regulatory approvals. However, the efficacy of HER2 therapies in tumors with HER2 mutations has not been widely investigated.

Survey and perspective on verification, validation, and uncertainty quantification of digital twins for precision medicine.

Digital twins in precision medicine provide tailored health recommendations by simulating patient-specific trajectories and interventions. We examine the critical role of Verification, Validation, and Uncertainty Quantification (VVUQ) for digital twins in ensuring safety and efficacy, with examples in cardiology and oncology. We highlight challenges and opportunities for developing personalized trial methodologies, validation metrics, and standardizing VVUQ processes.

Adherence to multi-target stool DNA testing for colorectal cancer screening in the United States.

Purpose: Colorectal cancer (CRC) is the second leading cause of cancer mortality in the USA and is highly preventable, with early screening vital for improving outcomes. This study aimed to evaluate adherence rates of multi-target stool DNA (mt-sDNA) testing, following updated guidelines recommending screening starting at age 45.

Methods: This retrospective cohort study used aggregated data from Exact Sciences Laboratories LLC, examining new users (first-time testers) aged 45-85 with commercial, Medicare, or Medicaid insurance who received mt-sDNA test kits (point-of-care) between January 1, 2023, and June 1, 2023.

Molecular dynamics simulation of film water thickness and properties at different interfaces in partially saturated frozen soil systems.

The film water, with an exceptional capacity to maintain a premelting, liquid-like state even under subzero conditions, provides a potential dynamic conduit for the movement of water in frozen soils. However, the distinctive structural and dynamic characteristics of film water have not been comprehensively elucidated. In this study, molecular dynamics (MD) simulations were conducted to examine the freezing of a system containing ice, water, silica, and gas.

A sustainable and green method for controlling acidic corrosion on mild steel using leaves of Araucaria heterophylla.

There are several studies that announce the inhibitory behavior of this sort of substance to strengthen the shield of metals, which is one of the positive benefits of green inhibitors. In the current investigation, Araucaria heterophylla studied as a green corrosion inhibitor to avert the mild steel during the acidic cleaning. The examination of this plant's ability to control corrosion at different concentrations in the acidic solution used certain expert measures.

A multi-frequency altimetry snow depth product over Arctic sea ice.

Sea ice thickness is an essential variable to understand and forecast the dynamic ice cover and can be estimated by satellite altimetry. Nevertheless, it is affected by uncertainties especially from snow depth, a key parameter to derive it from ice freeboard. We developed a snow depth product based on the differences between CryoSat-2 SAR Ku and IceSat-2 laser altimeters which have different snow penetration capabilities.

Neutralizing antibody immune correlates in COVAIL trial recipients of an mRNA second COVID-19 vaccine boost.

Neutralizing antibody titer has been a surrogate endpoint for guiding COVID-19 vaccine approval and use, although the pandemic's evolution and the introduction of variant-adapted vaccine boosters raise questions as to this surrogate's contemporary performance. For 985 recipients of an mRNA second bivalent or monovalent booster containing various Spike inserts [Prototype (Ancestral), Beta, Delta, and/or Omicron BA.1 or BA.

Nitrogen-Doped Graphene Aerogel toward Efficient Solar Steam Generation: Synergistic Effects of Thermal Conductivity and Wettability.

Solar-driven interfacial evaporation technology is regarded as a promising strategy for global freshwater shortage owing to its green and sustainable desalination process. Graphene aerogel (GA) is widely utilized in the design of solar-driven steam generation systems due to its excellent photothermal conversion efficiency and broad spectral absorption. Given the significant impact of hydrophilicity and thermal insulation on the performance of evaporators, nitrogen doping in the graphene structure not only effectively enhances its wettability but also allows for moderate tuning of its thermal conductivity, thereby optimizing the overall performance of the evaporator.

Clinical translation of the interconnected role of the microbiome and diet in genitourinary malignancies.

A complex and often under-appreciated relationship exists between the human microbiome, diet, and the development or progression of cancer. There is likewise an emerging appreciation for the role that the human-associated microbiota play in mediating cancer treatment response. This seminar series covers our current understanding of the interplay between the microbiome and cancer in genitourinary malignancies inclusive of bladder, kidney, and prostate cancers.

Fun in the sun: ribosomes defend against UV irradiation.

The concept that ribosomes are sensors of translational distress has sparked significant interest, although much of the research has been conducted in vitro. A new study by Vind et al. provides in vivo evidence that the ribotoxic stress response (RSR) serves as the first line of defense against ultraviolet (UV) radiation.

Genome-scale, functional screen of Plasmodium sexual replication.

Malaria mortality remains above 500 000 people annually, demonstrating the need for new and innovative control approaches. Using a genome-scale, functional screen of Plasmodium sexual replication, Sayers et al. identified over 300 genes essential for malaria transmission through the mosquito, providing many new candidates for drug and vaccine development.

Racial disparities in lung transplantation for cystic fibrosis in the era of highly effective modulator therapy.

Background: Highly effective modulator therapies (HEMT) including ivacaftor (IVA) and elexacaftor/tezacaftor/ivacaftor (ETI) have transformed treatment for people with cystic fibrosis (pwCF). However, non-HEMT-responsive mutations are more common in pwCF of non-White race/ethnicity; introduction of HEMT might have exacerbated racial/ethnic disparities in CF care.

Methods: Using the Scientific Registry of Transplant Recipients, we identified all lung transplant candidates and recipients 05/2005-12/2022 and categorized them by diagnosis (CF/non-CF), race/ethnicity (non-Hispanic White/Black/Hispanic) and era [Pre-HEMT (2005-1/30/2012), IVA (1/31/2012-10/30/2019), ETI (10/31/2019-12/31/2022)].

Large donor CRISPR for whole-CDS replacement of cell adhesion molecule LRRTM2.

The cell adhesion molecule Leucine-Rich Repeat Transmembrane neuronal protein 2 (LRRTM2) is crucial for synapse development and function. However, our understanding of its endogenous trafficking has been limited due to difficulties in manipulating its coding sequence (CDS) using standard genome editing techniques. Instead, we replaced the entire LRRTM2 CDS by adapting a two-guide CRISPR knock-in method, enabling complete control of LRRTM2.

Histone Methyltransferase G9a in Primary Sensory Neurons Promotes Inflammatory Pain and Transcription of and via Bivalent Histone Modifications.

Transient receptor potential ankyrin 1 (TRPA1) and vanilloid 1 (TRPV1) channels are crucial for detecting and transmitting nociceptive stimuli. Inflammatory pain is associated with sustained increases in TRPA1 and TRPV1 expression in primary sensory neurons. However, the epigenetic mechanisms driving this upregulation remain unknown.

Cerebral blood volume index in the era of thrombectomy-treated large and medium vessel ischemic strokes.

The cerebral blood volume index (CBV index) is a perfusion-based marker of collateral status. Several real-world data analyses from observational stroke cohorts have established relationships between this parameter and a range of favorable and unfavorable stroke outcomes. In this review, an overview is provided of the CBV index, within the context of thrombectomy-treated large vessel and medium vessel occlusion ischemic strokes.

Current approaches in CRISPR-Cas systems for diabetes.

In the face of advancements in health care and a shift towards healthy lifestyle, diabetes mellitus (DM) still presents as a global health challenge. This chapter explores recent advancements in the areas of genetic and molecular underpinnings of DM, addressing the revolutionary potential of CRISPR-based genome editing technologies. We delve into the multifaceted relationship between genes and molecular pathways contributing to both type1 and type 2 diabetes.