Literature Watch

The complexity of G protein-coupled receptor (GPCR) modulation and signalling

Systems Biology - Sat, 2025-05-10 06:00

Br J Pharmacol. 2025 May 9. doi: 10.1111/bph.70067. Online ahead of print.

NO ABSTRACT

PMID:40347038 | DOI:10.1111/bph.70067

Categories: Literature Watch

RETRACTION: Prediction of Potential Targets and Toxicological Insights of Astragalus in Liver Cancer Based on Network Pharmacology: Integrating Systems Biology, Drug Interaction Networks, and Toxicological Perspectives

Systems Biology - Sat, 2025-05-10 06:00

Environ Toxicol. 2025 May 10. doi: 10.1002/tox.24533. Online ahead of print.

ABSTRACT

M. Zou, Z. Zheng, Z. Xiahou, and J. Cao, "Prediction of Potential Targets and Toxicological Insights of Astragalus in Liver Cancer Based on Network Pharmacology: Integrating Systems Biology, Drug Interaction Networks, and Toxicological Perspectives," Environmental Toxicology (EarlyView): https://doi.org/10.1002/tox.24189. The above article, published online on 13 March 2024 in Wiley Online Library (http://onlinelibrary.wiley.com/), has been retracted by agreement between the journal Editor-in-Chief, April Rodd; and Wiley Periodicals LLC. Following an investigation by the publisher, the parties have concluded that this article was accepted solely on the basis of a compromised peer review process. Therefore, the article must be retracted. The authors were notified of this decision but did not respond.

PMID:40347009 | DOI:10.1002/tox.24533

Categories: Literature Watch

Peroxiredoxin Tsa1 Regulates the Activity of Trehalose Metabolism-Related Enzymes During Wine Yeast Biomass Propagation

Systems Biology - Sat, 2025-05-10 06:00

Microb Biotechnol. 2025 May;18(5):e70154. doi: 10.1111/1751-7915.70154.

ABSTRACT

Trehalose metabolism plays a crucial role in yeast stress tolerance during biomass propagation and dehydration, but its regulatory mechanisms under these industrial conditions remain incompletely understood. This study analyses the role of an antioxidant enzyme, the cytosolic peroxiredoxin Tsa1, in modulating trehalose metabolism in Saccharomyces cerevisiae wine strains during biomass production in molasses. Through comparative analyses in three commercial genetic backgrounds (L2056, T73, EC1118), we demonstrate that TSA1 deletion generally leads to increased intracellular trehalose accumulation despite phenotypic variability among strains. Enzymatic assays revealed that Tsa1 does not regulate trehalose synthesis by altering glycolytic/gluconeogenic flux through pyruvate kinase. However, the deletion of TSA1 resulted in increased oxidation of trehalose synthesis enzymes, as well as enhanced activity of trehalose-6-phosphate synthase and the trehalases Nth1 and Ath1, suggesting the involvement of peroxiredoxin in the futile cycle of trehalose synthesis and degradation. Scaling up the yeast biomass propagation process to semi-industrial conditions confirmed these findings, with increased trehalose levels in the tsa1∆ mutant correlating with enhanced desiccation resistance of the resulting biomass. These results highlight a novel Tsa1-dependent regulatory mechanism governing trehalose metabolism beyond its canonical antioxidant role. Understanding this pathway provides new insights into optimising yeast biomass propagation for industrial applications.

PMID:40346935 | DOI:10.1111/1751-7915.70154

Categories: Literature Watch

Risks and Benefits of Pharmacological Treatment for Pediatric Chronic Non-cancer Pain: When Safety Evidence Lags Behind Prescription Pads

Drug-induced Adverse Events - Sat, 2025-05-10 06:00

Paediatr Drugs. 2025 May 10. doi: 10.1007/s40272-025-00698-2. Online ahead of print.

ABSTRACT

The evidence to support the efficacy and safety of pharmacological treatments for chronic non-cancer pain in children is limited. In practice, clinicians are often required to establish therapeutic plans using data extrapolated from adult studies, which may not apply to younger patients. Recent systematic reviews and meta-analyses indicate minimal evidence of benefit for these treatments in children; however, the low quality of studies included in these reviews complicates the conclusions that can be derived from them. In this article, we focus on safety, an outcome as critical as efficacy in clinical trial design but often designated as secondary or even exploratory. Specifically, we examine methods for assessing adverse events in clinical research and propose a practical approach for evaluating these events in everyday practice. Additionally, we outline our strategy to conduct a risk-benefit analysis at the individual patient level, highlighting the importance of using a composite risk-benefit metric rather than assessing these outcomes separately. This approach enables real-time monitoring of both drug-related symptom relief and adverse effects, facilitating clinically meaningful risk-benefit discussions with patients and their families. Finally, we advocate for improvements in clinical trial design for pediatric chronic pain treatments, particularly around adverse events. Future trials should incorporate standardized definitions, comprehensive risk-benefit evaluations, and transparent outcome reporting. Implementing these changes may enhance decision-making by balancing the safety and the effectiveness of pharmacological treatments for children and adolescents with chronic pain.

PMID:40347360 | DOI:10.1007/s40272-025-00698-2

Categories: Literature Watch

Transition Care for Young Persons with Rare Bone Mineral Conditions: A Consensus Recommendation from the ECTS Rare Bone Disease Action Group

Orphan or Rare Diseases - Fri, 2025-05-09 06:00

Calcif Tissue Int. 2025 May 9;116(1):73. doi: 10.1007/s00223-025-01382-w.

ABSTRACT

Transition care (TC) is crucial for young persons with rare bone and mineral conditions (RBMCs) as they move from pediatric to adult healthcare. Effective TC prevents care disruptions and supports medical and psychosocial needs. However, gaps in communication, a shortage of adult RBMC specialists, and challenges in navigating adult healthcare necessitate standardized care. This study aimed to develop consensus-based recommendations for TC in RBMCs, focusing on best practices for seamless transition and patient empowerment. A two-round Delphi survey (September 2023-April 2024) was conducted among European RBMC experts, including 3 pediatric and 8 adult clinicians and 3 patient representatives from the European Calcified Tissue Society (ECTS). The panel formulated and refined statements through literature review and iterative scoring. Statements reaching ≥ 70% consensus were retained. A total of 81 statements were finalized across seven domains: initiation and planning, TC requirements, patient empowerment, organization and communication, service infrastructure and funding, and clinical care. Consensus was achieved on 64 out of 81 statements, with strong agreement on general and RBMC-specific recommendations. Key priorities included structured coordination among healthcare providers and a patient-centered approach that fosters self-advocacy and self-management. This Delphi consensus provides a structured framework for TC in young persons with RBMCs, emphasizing multidisciplinary care and patient empowerment. Future studies should assess the feasibility and impact of these guidelines across diverse healthcare systems.

PMID:40346280 | DOI:10.1007/s00223-025-01382-w

Categories: Literature Watch

Nursing's Role in Advancing Care for Rare Genetic Diseases

Orphan or Rare Diseases - Fri, 2025-05-09 06:00

Nurs Clin North Am. 2025 Jun;60(2):349-368. doi: 10.1016/j.cnur.2024.12.005. Epub 2025 Mar 3.

ABSTRACT

Rare diseases (RDs) are predominantly genetic in etiology and characterized by low frequency and high medical complexity. Although individually infrequent, the cumulative public health impact of ∼7000 RDs is significant, and patients and families experience significant psychosocial burden. Health disparities stem from delays in diagnosis (diagnostic odyssey), difficulty accessing care, and lack of effective treatments. This article provides an overview of rare genetic diseases and highlights exemplar cases demonstrating nursing's role in advancing comprehensive, person-centered care for rare genetic diseases. Resources and recommendations are provided for nurses to enhance quality care for individuals and families living with RDs.

PMID:40345765 | DOI:10.1016/j.cnur.2024.12.005

Categories: Literature Watch

sc-MULTI-omics approach in nano-rare diseases: understanding the pathophysiological mechanism of Mulvihill-Smith Syndrome

Orphan or Rare Diseases - Fri, 2025-05-09 06:00

Funct Integr Genomics. 2025 May 9;25(1):101. doi: 10.1007/s10142-025-01608-y.

ABSTRACT

Mulvihill-Smith Syndrome (MSS) is a clinically complex and genetically unsolved nano-rare disorder with only 12 patients reported in the literature. Most patients (91%) have immunological impairments, succumb to infection, and might develop cancer later in life. Its pathogenesis remains elusive and therapeutic options are limited. We used single-cell MULTI-omics (sc-MULTI-omics), combining transcriptomics (gene expression, TCR, and BCR repertoire) and proteogenomic (Cellular Indexing of Transcriptomes and Epitopes by Sequencing; CITE-seq), to decipher the pathophysiology of nano-rare disease patient. We report a new patient who is a 16-year-old girl. She had an increased leukocyte counts and typical manifestations of MSS such as short stature, older appearance, multiple pigmented nevi, microcephaly, monolateral keratoconus, Marcus-Gunn syndrome, hearing loss, vitamin D deficiency, mild hypercortisolism, and diabetes mellitus with very high insulin resistance (T3DM). sc-MULTI-omics CITE-seq showed that the MSS patient had increased central memory CD4+ T cells as well as effector memory CD8+ T cells, whilst reduced naïve T cells (both CD4+ and CD8+ T cells). Furthermore, we identified genes and pathways associated with the progeria-like phenotype, inflammation, and cancer progression, which may contribute to the clinical signs of MSS. sc-MUTLI-omics CITE-seq analyses improve our understanding of complex human disease pathophysiology and provides an alternative approach in personalized medicine in nano-rare disease.

PMID:40343591 | DOI:10.1007/s10142-025-01608-y

Categories: Literature Watch

Author Correction: Deep learning and genome-wide association meta-analyses of bone marrow adiposity in the UK Biobank

Deep learning - Fri, 2025-05-09 06:00

Nat Commun. 2025 May 9;16(1):4331. doi: 10.1038/s41467-025-59574-9.

NO ABSTRACT

PMID:40346038 | DOI:10.1038/s41467-025-59574-9

Categories: Literature Watch

FaceAge, a deep learning system to estimate biological age from face photographs to improve prognostication: a model development and validation study

Deep learning - Fri, 2025-05-09 06:00

Lancet Digit Health. 2025 May 7:100870. doi: 10.1016/j.landig.2025.03.002. Online ahead of print.

ABSTRACT

BACKGROUND: As humans age at different rates, physical appearance can yield insights into biological age and physiological health more reliably than chronological age. In medicine, however, appearance is incorporated into medical judgements in a subjective and non-standardised way. In this study, we aimed to develop and validate FaceAge, a deep learning system to estimate biological age from easily obtainable and low-cost face photographs.

METHODS: FaceAge was trained on data from 58 851 presumed healthy individuals aged 60 years or older: 56 304 individuals from the IMDb-Wiki dataset (training) and 2547 from the UTKFace dataset (initial validation). Clinical utility was evaluated on data from 6196 patients with cancer diagnoses from two institutions in the Netherlands and the USA: the MAASTRO, Harvard Thoracic, and Harvard Palliative cohorts FaceAge estimates in these cancer cohorts were compared with a non-cancerous reference cohort of 535 individuals. To assess the prognostic relevance of FaceAge, we performed Kaplan-Meier survival analysis and Cox modelling, adjusting for several clinical covariates. We also assessed the performance of FaceAge in patients with metastatic cancer receiving palliative treatment at the end of life by incorporating FaceAge into clinical prediction models. To evaluate whether FaceAge has the potential to be a biomarker for molecular ageing, we performed a gene-based analysis to assess its association with senescence genes.

FINDINGS: FaceAge showed significant independent prognostic performance in various cancer types and stages. Looking older was correlated with worse overall survival (after adjusting for covariates per-decade hazard ratio [HR] 1·151, p=0·013 in a pan-cancer cohort of n=4906; 1·148, p=0·011 in a thoracic cohort of n=573; and 1·117, p=0·021 in a palliative cohort of n=717). We found that, on average, patients with cancer looked older than their chronological age (mean increase of 4·79 years with respect to non-cancerous reference cohort, p<0·0001). We found that FaceAge can improve physicians' survival predictions in patients with incurable cancer receiving palliative treatments (from area under the curve 0·74 [95% CI 0·70-0·78] to 0·8 [0·76-0·83]; p<0·0001), highlighting the clinical use of the algorithm to support end-of-life decision making. FaceAge was also significantly associated with molecular mechanisms of senescence through gene analysis, whereas age was not.

INTERPRETATION: Our results suggest that a deep learning model can estimate biological age from face photographs and thereby enhance survival prediction in patients with cancer. Further research, including validation in larger cohorts, is needed to verify these findings in patients with cancer and to establish whether the findings extend to patients with other diseases. Subject to further testing and validation, approaches such as FaceAge could be used to translate a patient's visual appearance into objective, quantitative, and clinically valuable measures.

FUNDING: US National Institutes of Health and EU European Research Council.

PMID:40345937 | DOI:10.1016/j.landig.2025.03.002

Categories: Literature Watch

Comparative analysis of open-source against commercial AI-based segmentation models for online adaptive MR-guided radiotherapy

Deep learning - Fri, 2025-05-09 06:00

Z Med Phys. 2025 May 8:S0939-3889(25)00077-7. doi: 10.1016/j.zemedi.2025.04.008. Online ahead of print.

ABSTRACT

BACKGROUND AND PURPOSE: Online adaptive magnetic resonance-guided radiotherapy (MRgRT) has emerged as a state-of-the-art treatment option for multiple tumour entities, accounting for daily anatomical and tumour volume changes, thus allowing sparing of relevant organs at risk (OARs). However, the annotation of treatment-relevant anatomical structures in context of online plan adaptation remains challenging, often relying on commercial segmentation solutions due to limited availability of clinically validated alternatives. The aim of this study was to investigate whether an open-source artificial intelligence (AI) segmentation network can compete with the annotation accuracy of a commercial solution, both trained on the identical dataset, questioning the need for commercial models in clinical practice.

MATERIALS AND METHODS: For 47 pelvic patients, T2w MR imaging data acquired on a 1.5 T MR-Linac were manually contoured, identifying prostate, seminal vesicles, rectum, anal canal, bladder, penile bulb, and bony structures. These training data were used for the generation of an in-house AI segmentation model, a nnU-Net with residual encoder architecture featuring a streamlined single image inference pipeline, and re-training of a commercial solution. For quantitative evaluation, 20 MR images were contoured by a radiation oncologist, considered as ground truth contours (GTC) and compared with the in-house/commercial AI-based contours (iAIC/cAIC) using Dice Similarity Coefficient (DSC), 95% Hausdorff distances (HD95), and surface DSC (sDSC). For qualitative evaluation, four radiation oncologists assessed the usability of OAR/target iAIC within an online adaptive workflow using a four-point Likert scale: (1) acceptable without modification, (2) requiring minor adjustments, (3) requiring major adjustments, and (4) not usable.

RESULTS: Patient-individual annotations were generated in a median [range] time of 23 [16-34] s for iAIC and 152 [121-198] s for cAIC, respectively. OARs showed a maximum median DSC of 0.97/0.97 (iAIC/cAIC) for bladder and minimum median DSC of 0.78/0.79 (iAIC/cAIC) for anal canal/penile bulb. Maximal respectively minimal median HD95 were detected for rectum with 17.3/20.6 mm (iAIC/cAIC) and for bladder with 5.6/6.0 mm (iAIC/cAIC). Overall, the average median DSC/HD95 values were 0.87/11.8mm (iAIC) and 0.83/10.2mm (cAIC) for OAR/targets and 0.90/11.9mm (iAIC) and 0.91/16.5mm (cAIC) for bony structures. For a tolerance of 3 mm, the highest and lowest sDSC were determined for bladder (iAIC:1.00, cAIC:0.99) and prostate in iAIC (0.89) and anal canal in cAIC (0.80), respectively. Qualitatively, 84.8% of analysed contours were considered as clinically acceptable for iAIC, while 12.9% required minor and 2.3% major adjustments or were classed as unusable. Contour-specific analysis showed that iAIC achieved the highest mean scores with 1.00 for the anal canal and the lowest with 1.61 for the prostate.

CONCLUSION: This study demonstrates that open-source segmentation framework can achieve comparable annotation accuracy to commercial solutions for pelvic anatomy in online adaptive MRgRT. The adapted framework not only maintained high segmentation performance, with 84.8% of contours accepted by physicians or requiring only minor corrections (12.9%) but also enhanced clinical workflow efficiency of online adaptive MRgRT through reduced inference times. These findings establish open-source frameworks as viable alternatives to commercial systems in supervised clinical workflows.

PMID:40345918 | DOI:10.1016/j.zemedi.2025.04.008

Categories: Literature Watch

Identifying suppressive factors of Alzheimer's disease through comprehensive analysis of real-world data: a single-center retrospective study

Drug Repositioning - Fri, 2025-05-09 06:00

BMC Geriatr. 2025 May 9;25(1):321. doi: 10.1186/s12877-025-05982-x.

ABSTRACT

BACKGROUND: In addition to conventional symptomatic treatment drugs, anti-amyloid beta antibody drugs are expected to benefit patients with Alzheimer's disease (AD). However, issues such as side effects and high costs persist, and new preventive and therapeutic drugs are desired. Meanwhile, information on the diagnosis and symptomatic treatment of AD accumulated during daily clinical practice is stored as real-world data and is considered a powerful means of discovering unknown factors that could provide clues for new prevention and treatment approaches for AD through comprehensive exploration.

METHODS: We used anonymized hospital information system data from a tertiary care and academic hospital in Japan, spanning from 1981 to 2016, to search for potential suppressive factors for AD onset and to verify the validity of the discovered factors. We initially conducted a comprehensive search for candidate suppressive factors for AD and verified them using the inverse probability weighting (IPW) method with propensity scores.

RESULTS: From the comprehensive search, we identified glycyrrhizic acid (GA), a component of licorice, a traditional medicine with anti-inflammatory, antioxidant, antibacterial, and antiaging properties, as a candidate suppressing factor for AD. The IPW method showed that the odds ratio of developing AD in the GA group was 0.642 (95% confidence interval: 0.566-0.727) compared with the non-GA group after adjustment.

CONCLUSIONS: This is the first human study to suggest that GA may be a factor that can suppress the onset of AD. Additionally, our method could be a promising tool for drug repositioning that applies existing drugs already used in clinical settings with well-known side effects to diseases different from their original use.

PMID:40346511 | DOI:10.1186/s12877-025-05982-x

Categories: Literature Watch

A cross-tissue transcriptomic approach decodes glucocorticoid receptor-dependent links to human metabolic phenotypes

Pharmacogenomics - Fri, 2025-05-09 06:00

BMC Genomics. 2025 May 9;26(1):462. doi: 10.1186/s12864-025-11676-w.

ABSTRACT

Glucocorticoids, acting through the glucocorticoid receptor (GR), control metabolism, maintain homeostasis, and enable adaptive responses to environmental challenges. Their function has been comprehensively studied, leading to identification of numerous tissue-specific GR-dependent mechanisms. Abundant evidence shows that GR-triggered responses differ across tissues, however, the extent of this specificity was not comprehensively explored. It is also unknown how particular GR-induced molecular patterns are translated into profile of higher-level human traits. Here, we examine cross-tissue effects of GR activation on gene expression. We assessed changes induced by stimulation with GR agonist, dexamethasone in nine tissues (adrenal cortex, perigonadal adipose tissue, hypothalamus, liver, kidney, anterior thigh muscle, pituitary gland, spleen, and lungs) in adult male C57BL/6 mice, using whole-genome microarrays. Dexamethasone induced balanced transcriptional responses across all examined tissues with 585 identified dexamethasone-regulated transcripts, including 446 with significant treatment-tissue interaction effects. Clustering analysis revealed sixteen GR-dependent patterns, including those universal across tissues and tissue-specific. We leveraged existing gene annotations and created new annotation sets based on chromatin immunoprecipitation sequencing, recent large-scale genome-wide association studies, and human transcriptome collections. As expected, GR-dependent transcripts were associated with essential metabolic processes (glycolysis/gluconeogenesis, lipid-metabolism) and inflammation-related pathways. Beyond these, we found novel links between regulated gene patterns and human phenotypic traits, like reticulocyte count or blood triglyceride levels. Overall effects of GR stimulation are well coordinated and closely linked to biological roles of tissues and organs. Our findings provide novel insights into complex systemic and tissue-specific actions of glucocorticoids and their potential impacts on human physiology and pathology.

PMID:40346507 | DOI:10.1186/s12864-025-11676-w

Categories: Literature Watch

Pharmacogenomic Considerations in Antibiotic Therapy: A Pathway to Personalized Medicines with Antibiotic Use

Pharmacogenomics - Fri, 2025-05-09 06:00

Nurs Clin North Am. 2025 Jun;60(2):321-332. doi: 10.1016/j.cnur.2024.12.009. Epub 2025 Feb 6.

ABSTRACT

Antibiotics have revolutionized medicine, but their use is not without challenges. The efficacy and safety of antibiotics can vary significantly among individuals due to genetic differences. Genetic variation can influence the risk of antibiotic-related adverse effects, and understanding genetics can improve our ability to identify and manage these risks. Pharmacogenomics, the study of how genes affect a person's response to drugs, is emerging as a crucial field in optimizing antibiotic therapy. Pharmacogenomic elements may have a potential role in optimizing drug therapy and reducing adverse drug reactions.

PMID:40345763 | DOI:10.1016/j.cnur.2024.12.009

Categories: Literature Watch

The Use of Pharmacogenomics in Cardiovascular Care

Pharmacogenomics - Fri, 2025-05-09 06:00

Nurs Clin North Am. 2025 Jun;60(2):305-320. doi: 10.1016/j.cnur.2024.12.007. Epub 2025 Feb 20.

ABSTRACT

Pharmacogenomics (PGx)-the study of how one's genes affect their response to drugs-has implications for every medical subspecialty, including cardiology. This article discusses evidence-based resources that provide guidance for interpreting and applying PGx results in patient care. All health care providers, including frontline nurses, should understand this important tool for patient care.

PMID:40345762 | DOI:10.1016/j.cnur.2024.12.007

Categories: Literature Watch

The Use of Pharmacogenomics in Mental Health

Pharmacogenomics - Fri, 2025-05-09 06:00

Nurs Clin North Am. 2025 Jun;60(2):293-304. doi: 10.1016/j.cnur.2024.12.006. Epub 2025 Jan 18.

ABSTRACT

Pharmacogenomics (PGx) offers a personalized approach to treating mental health disorders, like depression, by using an individual's genetic profile to guide medication selection and dosage. This approach can reduce trial-and-error prescribing, shorten time to remission, and decrease adverse side effects. Nurses, as frontline healthcare providers, play a crucial role in educating patients about PGx testing and incorporating it into care. There are many clinical resources available to assist with decision making when integrating PGx into routine care. As PGx testing advances, nurses must stay updated on emerging practices to optimize treatment strategies, improving patient outcomes and quality of life in mental health care.

PMID:40345761 | DOI:10.1016/j.cnur.2024.12.006

Categories: Literature Watch

Pharmacogenomics for Nurses

Pharmacogenomics - Fri, 2025-05-09 06:00

Nurs Clin North Am. 2025 Jun;60(2):283-292. doi: 10.1016/j.cnur.2025.01.006. Epub 2025 Feb 15.

ABSTRACT

In the new and evolving area of precision medicine, the nurse will not only have to rely on the 5 rights for medication administration but may also have to take into account the patient's genetic makeup. The 5 rights of medication administration have been incorporated into precision medicine, which includes pharmacogenetics-the specific gene and drug interaction- or more broadly, pharmacogenomics, which encompasses specific gene and drug interactions and other genetic and environmental factors. Pharmacogenomic testing is now available with specific guidelines to assist the prescriber with drug and dose selection to improve drug efficacy and reduce adverse drug reactions.

PMID:40345760 | DOI:10.1016/j.cnur.2025.01.006

Categories: Literature Watch

The Genomic Essential Competencies Expected for all Registered Nurses

Pharmacogenomics - Fri, 2025-05-09 06:00

Nurs Clin North Am. 2025 Jun;60(2):243-255. doi: 10.1016/j.cnur.2024.12.003. Epub 2025 Mar 12.

ABSTRACT

Evidence-based genomic applications improve the quality and safety of health care. Nurses irrespective of their role, level of training, clinical specialty, need to achieve genomic competency as defined by competencies internationally. This includes nursing educators who teach nurses in training as well as nursing leadership who guide policy and support infrastructures. Genomic resources are abundant to help achieve competency, which is aimed at further improving the quality, safety, and outcomes of nursing care.

PMID:40345757 | DOI:10.1016/j.cnur.2024.12.003

Categories: Literature Watch

Global Health and Genomics

Pharmacogenomics - Fri, 2025-05-09 06:00

Nurs Clin North Am. 2025 Jun;60(2):217-228. doi: 10.1016/j.cnur.2024.12.001. Epub 2025 Mar 4.

ABSTRACT

Evidence based genomic applications improve the quality and safety of healthcare. Nurses, irrespective of their role, level of training, or clinical specialty, need to achieve genomic competency as defined internationally. This includes nursing educators who teach nurses in training as well as nursing leadership who guide policy and support infrastructure. Genomic resources are abundant to help achieve competency which in turn improves quality, safety, and outcomes of nursing care.

PMID:40345755 | DOI:10.1016/j.cnur.2024.12.001

Categories: Literature Watch

Effect of probiotic supplementation on glycemic control in patients with type 2 diabetes: a randomized controlled trial

Pharmacogenomics - Fri, 2025-05-09 06:00

Clin Nutr ESPEN. 2025 May 7:S2405-4577(25)00310-9. doi: 10.1016/j.clnesp.2025.05.013. Online ahead of print.

ABSTRACT

BACKGROUND: Type 2 diabetes presents significant public health challenges. The gut microbiome has emerged as a potential factor influencing glucose metabolism.

METHODS: We performed a randomized, double-blind, single-center trial involving patients with type 2 diabetes and glycated hemoglobin (HbA1c) concentration of 7% or greater. Patients were randomly assigned to receive 100 billion colony-forming units (CFUs) of probiotic supplementation daily or placebo. The primary efficacy endpoint was the change in HbA1c from baseline to 12 weeks, and secondary endpoints included lipid and inflammatory markers.

RESULTS: A total of 130 patients were included. HbA1c was 7.63 ± 0.54% at baseline and 7.63 ± 0.63% at 12 weeks in the probiotic group and 7.71 ± 0.74% and 7.81 ± 0.84% in the placebo group (p = 0.29 between treatment groups). There were also no significant differences between treatment groups in plasma glucose (p = 0.60) and insulin (p = 0.41), as well as in LDL-cholesterol (p = 0.90) and triglycerides (p = 0.32). The adjusted geometric mean percent change (95% confidence interval) in high-sensitivity C-reactive protein was 1.59% (-15.71, 22.44) in the probiotic group and -1.37% (-18.04, 18.70) in the placebo group (p = 0.82). Gastrointestinal adverse events occurred in 38.5% and 46.2% of patients in the probiotic group and placebo group respectively (p = 0.48).

CONCLUSIONS: Probiotic supplementation for 12 weeks did not improve glycemic control, lipid or inflammatory markers in patients with type 2 diabetes. Further research is needed to determine the potential benefits and underlying mechanisms of probiotics in subsets of patients.

CLINICALTRIALS: gov Identifier no. NCT03239366.

PMID:40345656 | DOI:10.1016/j.clnesp.2025.05.013

Categories: Literature Watch

Exploring the regulatory mechanism of CCNA2 in colorectal cancer: insights from multiomics and experimental analysis

Pharmacogenomics - Fri, 2025-05-09 06:00

J Biol Chem. 2025 May 8:110216. doi: 10.1016/j.jbc.2025.110216. Online ahead of print.

ABSTRACT

Colorectal cancer (CRC) is the third-most common cancer and the second-leading cause of mortality due to cancer worldwide. The underlying regulatory mechanism of CCNA2 in CRC was explored through multiomics and experimental analyses, thus facilitating diagnosis, therapy and prognosis. Two gene expression datasets (i.e., GSE9348 and GSE110223) were extracted from GEO. Differentially expressed genes (DEGs) were identified via GEO2R, which were used for enrichment analyses through DAVID. PPI network of DEGs was constructed by STRING, and the core genes were identified. CCNA2, a prognostic core gene for CRC, was validated in TCGA and HPA via transcriptomics and proteomics. ROC analysis was performed to evaluate the diagnostic value of CCNA2 in CRC. The therapeutic value of CCNA2 was evaluated in DGIdb through pharmacogenomics. The correlation between CCNA2 and immune infiltration was determined in TIMER by immunomics. TF-mRNA and miRNA-mRNA networks for CCNA2 were constructed in miRnet and miRDB via transcriptomics. The role and mechanism of CCNA2 in CRC were investigated both in vitro and in vivo. The miR-548x-3p/CCNA2 regulatory axis in CRC was investigated in vitro. CCNA2 showed excellent diagnostic, therapeutic, and prognostic value in CRC. CCNA2 was closely associated with tumor-infiltrating immunocytes, TFs, and miRNAs. The upregulation of CCNA2 was observed in CRC, and the knockdown of CCNA2 inhibited the proliferation, migration, and invasion while inducing apoptosis of CRC cells. The knockdown of CCNA2 could inhibit epithelial-mesenchymal transition (EMT) pathway. CCNA2 acted as a target of miR-548x-3p in regulating the biological behavior of CRC cells via the EMT-signaling pathway. CCNA2 is a potential biomarker for the diagnosis, treatment, and prognosis of CRC and is associated with immune infiltration, TF, and miRNA. The miR-548x-3p/CCNA2 axis plays a pivotal role in regulating the tumorigenesis of CRC through the EMT-signaling pathway.

PMID:40345591 | DOI:10.1016/j.jbc.2025.110216

Categories: Literature Watch

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