Systematic review of omalizumab for refractory clonal and non-clonal mast cell activation syndrome.

Patients with mast cell activation syndrome (MCAS) can be refractory to standard antimediator therapy. Alternative treatment options to reduce disease burden and improve quality of life are needed. To compile the evidence that supports the use of omalizumab for patients with refractory MCAS.

Comparison of baseline global gene expression profiles of prostate cancer cell lines LNCaP and DU145.

Introduction: DU145 and LNCaP are classic prostate cancer cell lines. Characterizing their baseline transcriptomics profiles (without any intervention) can offer insights into baseline genetic features and oncogenic pathways that should be considered while interpreting findings after various experimental interventions such as exogenous gene transfection or drug treatment.

Methods: LNCaP and DU145 cell lines were cultured under normal conditions, followed by RNA extraction, cDNA conversion, library preparation, and RNA sequencing using the Illumina NovaSeq platform.

Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Tumor microenvironment and immunotherapy for triple-negative breast cancer.

Triple-negative breast cancer (TNBC) is a subtype of breast cancer known for its high aggressiveness and poor prognosis. Conventional treatment of TNBC is challenging due to its heterogeneity and lack of clear targets. Recent advancements in immunotherapy have shown promise in treating TNBC, with immune checkpoint therapy playing a significant role in comprehensive treatment plans.

Research priorities for improving cognitive and neuropsychological outcomes in hydrocephalus.

Hydrocephalus is a neurological disorder that impacts approximately 85 per 100,000 individuals worldwide and is associated with motor and cognitive impairments. While many advances in surgical interventions have helped substantially improve the survival rates and quality of life of those affected, there continues to be significant gaps in our understanding of the etiology of this heterogeneous condition as well as its specific neuropsychological and functional challenges across different phases of life. To address these limitations, the Hydrocephalus Association and Rudi Schulte Research Institute organized a workshop titled, "Improving Cognitive and Psychological Outcomes in Hydrocephalus", composed of top academics in the fields of hydrocephalus, cognition, and neuropsychology, as well as individuals with hydrocephalus or their caregivers.

METTL1 mediates PKM m7G modification to regulate CD155 expression and promote immune evasion in colorectal cancer.

Background: Colorectal cancer (CRC) is characterized by poor responsiveness to immune evasion and immunotherapy. RNA 7-methylguanine (m7G) modification plays a key role in tumorigenesis. However, the mechanisms by which m7G-modified RNA metabolism affects tumor progression are not fully understood, nor is the contribution of m7G-modified RNA to the CRC immune microenvironment.

Supporting teams with designing for dissemination and sustainability: the design, development, and usability of a digital interactive platform.

Background: Designing for Dissemination and Sustainability (D4DS) principles and methods can support the development of research products (interventions, tools, findings) that match well with the needs and context of the intended audience and setting. D4DS principles and methods are not well-known or used during clinical and public health research; research teams would benefit from applying D4DS. This paper presents the development of a new digital platform for research teams to learn and apply a D4DS process to their work.

Programmed cell death 1 inhibitor alone or combined with chemotherapy for patients with locally advanced or metastatic urothelial carcinoma: a single-center experience.

Background: Immune checkpoint inhibitors (ICIs) alone or in combination with standard chemotherapy for advanced urothelial carcinoma (UC) have been tested as first-line treatment in clinical trials. This study aimed to evaluate the clinical outcomes of programmed cell death 1 (PD-1) inhibitor alone or combined with chemotherapy for patients with locally advanced or metastatic UC in a real world clinical care setting, and sought to identify prognostic factors for overall survival (OS).

Methods: A retrospective, real-world study involving 35 locally advanced or metastatic UC patients treated with PD-1 inhibitor alone or in combination with chemotherapy was conducted.

Automated differentiation of wide QRS complex tachycardia using QRS complex polarity.

Background: Wide QRS complex tachycardia (WCT) differentiation into ventricular tachycardia (VT) and supraventricular wide complex tachycardia (SWCT) remains challenging despite numerous 12-lead electrocardiogram (ECG) criteria and algorithms. Automated solutions leveraging computerized ECG interpretation (CEI) measurements and engineered features offer practical ways to improve diagnostic accuracy. We propose automated algorithms based on (i) WCT QRS polarity direction (WCT Polarity Code [WCT-PC]) and (ii) QRS polarity shifts between WCT and baseline ECGs (QRS Polarity Shift [QRS-PS]).

The impact of gender-affirming interventions on eating disorder diagnosis risk among transgender and gender-diverse individuals.

Background: The objective of this study is to evaluate the risk of being diagnosed with an eating disorder among transgender and gender-diverse (TGD) individuals, specifically examining how this risk differs following gender-affirming medical therapy (GAMT).

Methods: The study utilizes electronic medical record (EMR) data from the TriNetX database. A total of 90,955 TGD individuals were identified in the TriNetX database.

Schistosoma sex-biased microRNAs regulate ovarian development and egg production by targeting Wnt signaling pathway.

Adult Schistosoma produces a large number of eggs that play essential roles in host pathology and disease dissemination. Consequently, understanding the mechanisms of sexual maturation and egg production may open a new avenue for controlling schistosomiasis. Here, we describe that Bantam miRNA and miR-1989 regulate Wnt signaling pathway by targeting Frizzled-5/7/9, which is involved in ovarian development and oviposition.

Demyelination-derived lysophosphatidylserine promotes microglial dysfunction and neuropathology in a mouse model of Alzheimer's disease.

Microglia dysfunction-associated neuroinflammation is an important driver of Alzheimer's disease (AD), but the mechanism is poorly understood. Here, we show that demyelination promotes neuroinflammation and cognitive impairment via the lysophosphatidylserine (LysoPS)-GPR34 axis in AD. Demyelination is observed at the early stage and is accompanied by an increase in LysoPS in myelin debris in a 5xFAD mouse model of AD.

Disruption of the β-catenin destruction complex via Ephexin1-Axin1 interaction promotes colorectal cancer proliferation.

Wnt signaling is essential for cell growth and tumor formation and is abnormally activated in colorectal cancer (CRC), contributing to tumor progression; however, the specific role and regulatory mechanisms involved in tumor development remain unclear. Here, we show that Ephexin1, a guanine nucleotide exchange factor, is significantly overexpressed in CRC and is correlated with increased Wnt/β-catenin pathway activity. Through comprehensive analysis, including RNA sequencing data from TCGA and functional assays, we observed that Ephexin1 promotes tumor proliferation and migration by activating the Wnt/β-catenin pathway.

Trogocytosis-mediated immune evasion in the tumor microenvironment.

Trogocytosis is a dynamic cellular process characterized by the exchange of the plasma membrane and associated cytosol during cell-to-cell interactions. Unlike phagocytosis, this transfer maintains the surface localization of transferred membrane molecules. For example, CD4 T cells engaging with antigen-presenting cells undergo trogocytosis, which facilitates the transfer of antigen-loaded major histocompatibility complex (MHC) class II molecules from antigen-presenting cells to CD4 T cells.

Unraveling the associations between voice pitch and major depressive disorder: a multisite genetic study.

Major depressive disorder (MDD) often goes undiagnosed due to the absence of clear biomarkers. We sought to identify voice biomarkers for MDD and separate biomarkers indicative of MDD predisposition from biomarkers reflecting current depressive symptoms. Using a two-stage meta-analytic design to remove confounds, we tested the association between features representing vocal pitch and MDD in a multisite case-control cohort study of Chinese women with recurrent depression.

Osimertinib for EGFR-Mutant NSCLC Patients With Acquired T790M and EGFR Amplification After First-Generation EGFR-TKI Resistance.

Third-generation epidermal growth factor receptor tyrosine kinase inhibitor (EGFR-TKI) is the standard therapy for patients harboring T790M after first-generation EGFR-TKI resistance. However, the impact of acquired EGFR amplification on the efficacy of third-generation EGFR-TKI against T790M remains uncertain. We aimed to investigate whether the presence of acquired EGFR amplification after first-generation EGFR-TKI resistance influences the efficacy of third-generation EGFR-TKI in patients with advanced non-small-cell lung cancer (NSCLC).

Association Between Autoimmune Thyroid disease and Oral Lichen Planus: A Multi-Omic Genetic Analysis.

Objective: The oral mucosa mirrors a range of latent systemic disorders, with potential clinical associations noted between autoimmune thyroid disease (AITD) and oral lichen planus (OLP). This study aims to explore the genetic relationship and underlying mechanisms mediating these conditions.

Methods: A 2-step Mendelian randomization (MR) analysis was conducted to elucidate the genetic relationship and mediating factors between AITD and OLP.

Acute communication between microglia and non-parenchymal immune cells in the anti-Aβ antibody injected cortex.

Anti-Aβ immunotherapy use to treat Alzheimer's disease is on the rise. While anti-Aβ antibodies provide hope in targeting Aβ plaques in the brain there still remains a lack of understanding regarding the cellular responses to these antibodies in the brain. In this study we sought to identify acute effects of anti-Aβ antibody on immune responses.

Trends and cross-country inequality in the incidence of GI cancers among the working-age population from 1990 to 2021: a Global Burden of Disease 2021 analysis.

Background: GI cancers pose an increasing global health burden, with their impact on the working-age population (WAP) aged 15-64 years remaining largely unexplored despite the crucial role of this group in societal and economic well-being.

Objective: To assess trends and cross-country inequality in the global burden of six GI cancers from 1990 to 2021 among individuals in the WAP.

Design: The 2021 Global Burden of Disease study dataset was used to obtain estimates of GI cancer incidence and 95% uncertainty intervals, including the number of cases, crude incidence rate and age-standardised incidence rate (ASIR).

Video Game Therapy in a Neurosciences Critical Care Unit: A Pilot Study.

Background: Therapeutic activity after stroke is a component of early recovery strategies. Interactive video games have been shown to be safe as an adjunct rehabilitation therapy in the medical intensive care setting, but patients with neurologic disease were often excluded from those protocols.

Objectives: To evaluate the feasibility and safety of individualized interactive video game therapy in critically ill neurologic patients.

Health-promoting lifestyles and influencing factors among pregnant women with urinary incontinence: a multicentre cross-sectional study.

Objective: Lifestyle modification is an important part of non-surgical treatment for urinary incontinence (UI) and is strongly recommended. This study aims to explore the status and influencing factors of health-promoting lifestyle among pregnant women with UI.

Design: A multicentre cross-sectional study.