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23241
Clinical features and genetic analysis of 15 Chinese children with dent disease
Published 2024-12-01“…A total of 11 mutations in the CLCN5 gene were detected, including 3 missense mutations (25.0%, c.1756C > T, c.1166T > G, and c.1618G > A), 5 frameshift mutations (41.7%, c.407delT, c.1702_c.1703insC, c.137delC, c.665_666delGGinsC, and c.2200delG), and 3 nonsense mutations (25.0%, c.776G > A, c.1609C > T, and c.1152G > A). …”
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23242
Ultrasensitive interferons quantification reveals different cytokine profile secretion in inflammatory myopathies and can serve as biomarkers of activity in dermatomyositis
Published 2025-02-01“…ObjectiveThe objective of this study was to evaluate the presence of different types of interferon in idiopathic inflammatory myopathies (IIM) and their subgroups using ultrasensitive cytokine detection techniques (SIMOA) and to assess their potential as activity biomarkers.MethodsDisease activity was measured at the time of serum collection and assessed by manual muscle testing eight (MMT8 score 0-150), muscle enzymes to calculate the Physician Global Assessment (PGA) (0-10). …”
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23243
Increasing prevalence of thyroid autoimmunity in childhood type 1 diabetes in the pre-COVID but not during the COVID era
Published 2025-01-01“…From 2013 to 2022, TA prevalence rose from 15.9% to 20.6% (p=0.041). The increase was detected during the pre-pandemic years but not in the COVID-19 era. …”
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23244
Data recording and use of data tools for pig health management: perspectives of stakeholders in pig farming
Published 2025-01-01“…IntroductionData-driven strategies might combat the spreading of infectious pig disease and improve the early detection of potential pig health problems. The current study aimed to explore individual views on data recording and use of data tools for pig health management by recruiting stakeholders (N = 202) in Spain, Ireland, and the Netherlands.MethodsQuestionnaire focused on current on-farm challenges, current status of data recording on farms, and evaluation of the two mock data tools. …”
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23245
Low-Dose Decitabine Assists Human Umbilical Cord-Derived Mesenchymal Stem Cells in Protecting β Cells via the Modulation of the Macrophage Phenotype in Type 2 Diabetic Mice
Published 2020-01-01“…Dynamic changes in islets and the phenotype of intraislet macrophages were detected via immunofluorescence. In vitro, we explored the effect of MSCs and DAC on macrophage polarization. …”
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23246
Multi-omics analysis reveals the interplay between intratumoral bacteria and glioma
Published 2025-01-01“…We parallelly performed microbial profiling, transcriptome sequencing, and metabolomics detection on tumor and adjacent normal brain tissues obtained from 50 glioma patients. …”
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23247
Integrating BRCA testing into routine prostate cancer care: a multidisciplinary approach by SIUrO and other Italian Scientific Societies
Published 2025-01-01“…Despite progresses, challenges in BRCA carriers detection persist, with a quarter of PCa cases lacking family history. …”
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23248
Urine miRNA signature as potential non-invasive diagnostic biomarker for Hirschsprung’s disease
Published 2025-01-01“…Altogether, our analyzed HSCR cohort presents a dysregulated miRNA expression presents that can be detected in urine. Our findings open the possibility of using specific urine miRNA signatures as non-invasive HSCR diagnosis method in the future.…”
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23249
Virological and serological outcomes in people with HIV-HBV coinfection who had discontinued tenofovir-containing antiretroviral therapy: Results from a prospective cohort study
Published 2024-12-01“…Determinants of HBV DNA >2000 IU/mL while people were off tenofovir were detectable HIV RNA (p = 0.041), lower CD4+ T-cell count (p = 0.027), HBeAg positive serology (p = 0.004) and positive hepatitis D serology (p = 0.001). …”
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23250
Neuropsychiatric adverse events associated with Glucagon-like peptide-1 receptor agonists: a pharmacovigilance analysis of the FDA Adverse Event Reporting System database
Published 2025-01-01“…Conclusions In this study, we identified eight potential neuropsychiatric adverse events (AEs) associated with GLP-1RAs and, for the first time, detected positive signals for migraine, olfactory abnormalities, and sensory abnormalities. …”
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23251
A preliminary exploration of establishing a mice model of hypoxic training
Published 2025-01-01“…Thus, we think a mouse model for hypoxic training was built, with Rota-rod testing as a detection indicator. Moreover, hypoxic training may alleviate the damage of hypoxia to the body.…”
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23252
Combining UAV Remote Sensing with Ensemble Learning to Monitor Leaf Nitrogen Content in Custard Apple (<i>Annona squamosa</i> L.)
Published 2024-12-01“…Random Forest (RF), Adaptive Boosting (ADA), Gradient Boosting Decision Trees (GBDT), Linear Regression (LR), and Extremely Randomized Trees (ERT) are among the basis estimators that are integrated in the first layer. By detecting and eliminating redundancy among base estimators, the Least Absolute Shrinkage and Selection Operator regression (Lasso)model used in the second layer improves nitrogen estimation. …”
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23253
Simultaneous non-contrast assessment of cardiac microstructure and perfusion in vivo in the human heart
Published 2025-01-01“…Conclusion: Phase-cycled STEAM-IVIM enables fitting of cardiac diffusion tensor and perfusion parameters in healthy subjects and shows promise for the simultaneous detection of microstructural aberration and perfusion abnormalities in the presence of cardiac disease without the need for exogenous contrast agents.…”
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23254
Automated method of bronchus and artery dimension measurement in an adult bronchiectasis population
Published 2024-12-01“…Computed tomography (CT) plays an important role in the detection and quantification of BE. The aim of this study was three-fold: 1) to assess bronchus–artery (BA) dimensions using fully automated software in a cohort of BE disease patients; 2) to compare BA dimensions with semi-quantitative BEST-CT (Bronchiectasis Scoring Technique for CT) scores for BE and bronchial wall thickening; and 3) to explore the structure–function relationship between BA-method lumen dimensions and spirometry outcomes. …”
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23255
ESAT-6 protein suppresses allograft rejection by inducing CD4+Foxp3+ regulatory T cells through IκBα/cRel pathway
Published 2025-01-01“…Western blotting was used to detect IĸBα/c-Rel signaling during Treg induction. …”
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23256
Tregs levels and phenotype modifications during Amyotrophic Lateral Sclerosis course
Published 2025-01-01“…Additionally, we explored whether measures of ALS progression, such as the decline over time in the revised ALS Functional Rating Scale (ALSFRS-r) or forced vital capacity (FVC) correlated Treg levels and whether Treg phenotype varied during the course of ALS.MethodsTotal Tregs (detected by CD3, CD4, FoxP3, CD25, and CD127) were quantified at five time points over 54 weeks in 21 patients in the placebo arm of the RAP-ALS trial; next they were characterized for the expression of surface markers including CD38, CD39, CXCR3, and PD1. …”
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23257
Oral human papillomavirus (HPV) prevalence and genotyping among healthy adult populations in the United States and Europe: results from the PROGRESS (PRevalence of Oral hpv infecti...
Published 2025-01-01“…Participants provided oral gargle specimen for HPV DNA and genotyping and completed behavioral questionnaires. HPV DNA detection and genotyping was performed using SPF10/DEIA/LiPA25 at central laboratories. …”
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23258
UV-fs-LA-ICP-MS Analysis of CO2-Rich Fluid Inclusions in a Frozen State: Example from the Dahu Au-Mo Deposit, Xiaoqinling Region, Central China
Published 2018-01-01“…The concentrations of Mo are always below the detection limit from 0.005 to 2 ppm (excluding values obtained from fluid inclusions with accidentally trapped solids). …”
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23259
In vivo reduction of biofilm seeded on orthopaedic implants: safety and efficacy of portable electromagnetic induction heating
Published 2024-12-01“…In rabbits implanted with sterile screws, no bacteria were detected. In rabbits implanted with infected screws, a significant bacterial load reduction with median 0.75 Log10 colony-forming units/ml was observed (p = 0.016). …”
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23260
Genomic Characterization of Carbapenemase-Producing Enterobacteriaceae from Clinical and Epidemiological Human Samples
Published 2025-01-01“…Advanced genomic tools enhance the detection of resistance genes, virulence factors, and high-risk clones, thus improving the management of MDR infections. …”
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