keyword
https://read.qxmd.com/read/38519839/minimally-invasive-biopsy-based-diagnostics-in-support-of-precision-cancer-medicine
#21
REVIEW
Bo Franzén, Gert Auer, Rolf Lewensohn
Precision cancer medicine (PCM) to support the treatment of solid tumors requires minimally invasive diagnostics. Here, we describe the development of fine-needle aspiration biopsy-based (FNA) molecular cytology which will be increasingly important in diagnostics and adaptive treatment. We provide support for FNA-based molecular cytology having a significant potential to replace core needle biopsy (CNB) as a patient-friendly potent technique for tumor sampling for various tumor types. This is not only because CNB is a more traumatic procedure and may be associated with more complications compared to FNA-based sampling, but also due to the recently developed molecular methods used with FNA...
March 22, 2024: Molecular Oncology
https://read.qxmd.com/read/38518535/sentinel-lymph-node-risk-prognostication-in-primary-cutaneous-melanoma-through-tissue-based-profiling-potentially-redefining-the-need-for-sentinel-lymph-node-biopsy
#22
REVIEW
Julian Kött, Noah Zimmermann, Tim Zell, Alessandra Rünger, Isabel Heidrich, Glenn Geidel, Daniel J Smit, Inga Hansen, Finn Abeck, Dirk Schadendorf, Alexander Eggermont, Susana Puig, Axel Hauschild, Christoffer Gebhardt
PURPOSE OF REVIEW: The role of Sentinel Lymph Node Biopsy (SLNB) is pivotal in the contemporary staging of cutaneous melanoma. In this review, we examine advanced molecular testing platforms like gene expression profiling (GEP) and immunohistochemistry (IHC) as tools for predicting the prognosis of sentinel lymph nodes. We compare these innovative approaches with traditional staging assessments. Additionally, we delve into the shared genetic and protein markers between GEP and IHC tests and their relevance to melanoma biology, exploring their prognostic and predictive characteristics...
March 8, 2024: European Journal of Cancer
https://read.qxmd.com/read/38518057/a-machine-learning-based-diagnostic-model-for-myocardial-infarction-patients-analysis-of-neutrophil-extracellular-traps-related-genes-and-eqtl-mendelian-randomization
#23
JOURNAL ARTICLE
Meng Sheng, Xueying Cui
To identify neutrophil extracellular trap (NET)-associated gene features in the blood of patients with myocardial infarction (MI) using bioinformatics and machine learning, with the aim of exploring potential diagnostic utility in atherosclerosis. The datasets GSE66360 and GSE48060 were downloaded from the Gene Expression Omnibus (GEO) public database. GSE66360 was used as the training set, and GSE48060 was used as an independent validation set. Differential genes related to NETs were screened using R software...
March 22, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38517973/iterative-nanoparticle-bioengineering-enabled-by-x-ray-fluorescence-imaging
#24
JOURNAL ARTICLE
Giovanni M Saladino, Bertha Brodin, Ronak Kakadiya, Muhammet S Toprak, Hans M Hertz
Nanoparticles (NPs) are currently developed for drug delivery and molecular imaging. However, they often get intercepted before reaching their target, leading to low targeting efficacy and signal-to-noise ratio. They tend to accumulate in organs like lungs, liver, kidneys, and spleen. The remedy is to iteratively engineer NP surface properties and administration strategies, presently a time-consuming process that includes organ dissection at different time points. To improve this, we propose a rapid iterative approach using whole-animal x-ray fluorescence (XRF) imaging to systematically evaluate NP distribution in vivo...
March 22, 2024: Science Advances
https://read.qxmd.com/read/38515664/assessing-the-complementary-information-from-an-increased-number-of-biologically-relevant-features-in-liquid-biopsy-derived-rna-seq-data
#25
JOURNAL ARTICLE
Stavros Giannoukakos, Silvia D'Ambrosi, Danijela Koppers-Lalic, Cristina Gómez-Martín, Alberto Fernandez, Michael Hackenberg
Liquid biopsy-derived RNA sequencing (lbRNA-seq) exhibits significant promise for clinic-oriented cancer diagnostics due to its non-invasiveness and ease of repeatability. Despite substantial advancements, obstacles like technical artefacts and process standardisation impede seamless clinical integration. Alongside addressing technical aspects such as normalising fluctuating low-input material and establishing a standardised clinical workflow, the lack of result validation using independent datasets remains a critical factor contributing to the often low reproducibility of liquid biopsy-detected biomarkers...
March 30, 2024: Heliyon
https://read.qxmd.com/read/38515532/inactivation-of-highly-transmissible-livestock-and-avian-viruses-including-influenza-a-and-newcastle-disease-virus-for-molecular-diagnostics
#26
JOURNAL ARTICLE
Jennifer L Welch, Ram Shrestha, Heather Hutchings, Narinder Pal, Randall Levings, Suelee Robbe-Austerman, Rachel Palinski, Karthik K Shanmuganatham
There is a critical need for an inactivation method that completely inactivates pathogens at the time of sample collection while maintaining the nucleic acid quality required for diagnostic PCR testing. This inactivation method is required to alleviate concerns about transmission potential, minimize shipping complications and cost, and enable testing in lower containment laboratories, thereby enhancing disease diagnostics through improved turn-around time. This study evaluated a panel of 10 surrogate viruses that represent highly pathogenic animal diseases...
2024: Frontiers in Veterinary Science
https://read.qxmd.com/read/38515137/ldlr-c-415g%C3%A2-%C3%A2-a-causes-familial-hypercholesterolemia-by-weakening-ldlr-binding-to-ldl
#27
JOURNAL ARTICLE
Kaihan Wang, Tingting Hu, Mengmeng Tai, Yan Shen, Haocheng Chai, Shaoyi Lin, Xiaomin Chen
BACKGROUND: Familial hypercholesterolemia (FH) is a prevalent hereditary disease that can cause aberrant cholesterol metabolism. In this study, we confirmed that c.415G > A in low-density lipoprotein receptor (LDLR), an FH-related gene, is a pathogenic variant in FH by in silico analysis and functional experiments. METHODS: The proband and his family were evaluated using the diagnostic criteria of the Dutch Lipid Clinic Network. Whole-exome and Sanger sequencing were used to explore and validate FH-related variants...
March 21, 2024: Lipids in Health and Disease
https://read.qxmd.com/read/38515017/optimizing-li-rads-ancillary-features-screened-from-lr-3-4-categories-can-improve-the-diagnosis-of-hcc-on-mri
#28
JOURNAL ARTICLE
Zi-Xin Zhang, Hui Xv, Yan-Ni Du, Zhi-Bin Lv, Zheng-Han Yang
OBJECTIVE: To determine the high-efficiency ancillary features (AFs) screened from LR-3/4 lesions and the HCC/non-HCC group and the diagnostic performance of LR3/4 observations. MATERIALS AND METHODS: We retrospectively analyzed a total of 460 patients (with 473 nodules) classified into LR-3-LR-5 categories, including 311 cases of hepatocellular carcinoma (HCC), 6 cases of non-HCC malignant tumors, and 156 cases of benign lesions. Two faculty abdominal radiologists with experience in hepatic imaging reviewed and recorded the major features (MFs) and AFs of the Liver Imaging Reporting and Data System (LI-RADS)...
March 21, 2024: BMC Gastroenterology
https://read.qxmd.com/read/38514083/preclinical-characterization-of-dpi-4452-a-68-ga-177-lu-theranostic-ligand-for-carbonic-anhydrase-ix
#29
JOURNAL ARTICLE
Frédéric Massière, Norbert Wiedemann, Inês Borrego, Aileen Hoehne, Frank Osterkamp, Matthias Paschke, Dirk Zboralski, Anne Schumann, Anne Bredenbeck, Franck Brichory, Antoine Attinger
The membrane protein carbonic anhydrase IX (CAIX) is highly expressed in many hypoxic or von Hippel-Lindau tumor suppressor-mutated tumor types. Its restricted expression in healthy tissues makes CAIX an attractive diagnostic and therapeutic target. DPI-4452 is a CAIX-targeting cyclic peptide with a DOTA cage, allowing radionuclide chelation for theranostic purposes. Here, we report CAIX expression in multiple tumor types and provide in vitro and in vivo evaluations of 68 Ga-labeled DPI-4452 ([68 Ga]Ga-DPI-4452) and 177 Lu-labeled DPI-4452 ([177 Lu]Lu-DPI-4452)...
March 21, 2024: Journal of Nuclear Medicine
https://read.qxmd.com/read/38513873/diagnosis-of-extra-pulmonary-tuberculosis-an-update-on-novel-diagnostic-approaches
#30
REVIEW
Rashi Jain, Gopika Gupta, D K Mitra, Randeep Guleria
Tuberculosis (TB) remains a major global public health problem worldwide. Though Pulmonary TB (PTB) is mostly discussed, one in five cases of TB present are extrapulmonary TB (EPTB) that manifests conspicuous diagnostic and management challenges with respect to the site of infection. The diagnosis of EPTB is often delayed or even missed due to insidious clinical presentation, pauci-bacillary nature of the disease, and lack of laboratory facilities in the resource limited settings. Culture, the classical gold standard for the diagnosis of tuberculosis, suffers from increased technical and logistical constraints in EPTB cases...
March 19, 2024: Respiratory Medicine
https://read.qxmd.com/read/38513389/deciphering-ace2-rbd-binding-affinity-through-peptide-scanning-a-molecular-dynamics-simulation-approach
#31
JOURNAL ARTICLE
Jiahu Tang, Ruibin Hu, Yiyi Liu, Jingchao Liu, Guanghui Wang, Jiahui Lv, Li Cheng, Tingzhen He, Ying Liu, Pan-Lin Shao, Bo Zhang
Rapid discovery of target information for protein-protein interactions (PPIs) is significant in drug design, diagnostics, vaccine development, antibody therapy, etc. Peptide microarray is an ideal tool for revealing epitope information of PPIs. In this work, the Severe Acute Respiratory Syndrome Coronavirus 2 (SARS-CoV-2) spike receptor-binding domain (RBD) and the host cell receptor angiotensin-converting enzyme 2 (ACE2) were introduced as a model to study the epitope information of RBD-specific binding to ACE2 via a combination of theoretical calculations and experimental validation...
March 16, 2024: Computers in Biology and Medicine
https://read.qxmd.com/read/38513273/morules-and-%C3%AE-catenin-predict-pole-mutation-status-in-endometrial-cancer-a-pathway-to-more-cost-effective-diagnostic-procedures
#32
JOURNAL ARTICLE
Rujia Fan, Wanrun Lin, Ruijiao Zhao, Li Li, Rui Xin, Yunfeng Zhang, Yuxin Liu, Ying Ma, Yiying Wang, Yue Wang, Wenxin Zheng
OBJECTIVES: The characterization of DNA polymerase epsilon (POLE) mutations has transformed the classification of endometrial endometrioid carcinomas (EECs), highlighting the need for efficient identification methods. This study aims to examine the relationship between distinct morphologic features-namely, squamous morules and squamous differentiation (SD), as well as β-catenin expression-and the POLE mutation status in endometrial cancer (EC). METHODS: Our study included 35 POLE-mutated (POLEmut) EC cases and 395 non-POLEmut EEC cases...
March 21, 2024: American Journal of Clinical Pathology
https://read.qxmd.com/read/38512825/evaluation-of-a-rapid-loop-mediated-isothermal-amplification-lamp-test-for-the-laboratory-diagnosis-of-sexually-transmitted-infections
#33
JOURNAL ARTICLE
Martina Brandolini, Laura Grumiro, Patrizia Farabegoli, Giorgio Dirani, Silvia Zannoli, Irene Zaghi, Massimiliano Guerra, Francesca Taddei, Giulia Gatti, Anna Marzucco, Maria Sofia Montanari, Alessandra Mistral De Pascali, Simona Semprini, Monica Cricca, Vittorio Sambri
Sexually transmitted infections (STIs) have seen a considerable increase in the last years and given the health burden they may represent from both a personal and community perspective, they require surveillance and prevention programmes based on a timely and decentralized diagnosis. In this context, user-friendly rapid molecular tests may represent a good trade-off between diagnostic accuracy, accessibility and affordability. In this study we evaluated the diagnostic performance of a new real-time LAMP (Loop Mediated Isothermal Amplification) method for the rapid detection and differentiation of 7 major sexually transmissible pathogens by analysing real clinical samples (genital and extra-genital matrices) from individuals with suspected STIs...
2024: PloS One
https://read.qxmd.com/read/38512536/identification-and-validation-of-cuproptosis-related-genes-for-diagnosis-and-therapy-in-nonalcoholic-fatty-liver-disease
#34
JOURNAL ARTICLE
Jinquan Li, Yi Zhang, Xiaohan Ma, Ruiqi Liu, Cuicui Xu, Qin He, Ming Dong
In recent years, nonalcoholic fatty liver disease (NAFLD) has become a more serious public health issue worldwide. This study strived to investigate the molecular mechanism of pathogenesis of NAFLD and explore promising diagnostic and therapeutic targets for NAFLD. Raw data from GSE130970 were downloaded from the Gene Expression Omnibus database. We used the dataset to analyze the expression levels of cuproptosis-related genes in NAFLD patients and healthy controls to identify the differentially expressed cuproptosis-related genes (DECRGs)...
March 21, 2024: Molecular and Cellular Biochemistry
https://read.qxmd.com/read/38512428/quantitative-proteomic-analysis-identifying-and-evaluating-traf6-and-il-8-as-potential-diagnostic-biomarkers-in-neonatal-patients-with-necrotizing-enterocolitis
#35
JOURNAL ARTICLE
Jing Wang, Minhan Qu, Aijuan Qiu, Lili Yang, Hui Xu, Shenglin Yu, Zhaojun Pan
Necrotizing enterocolitis (NEC) is a common gastrointestinal complication in premature infants, resulting in high morbidity and mortality, and its early detection is crucial for accurate treatment and outcome prediction. Extensive research has demonstrated a clear correlation between NEC and extremely low birth weight, degree of preterm, formula feeding, infection, hypoxic/ischemic damage, and intestinal dysbiosis. The development of noninvasive biomarkers of NEC from stool, urine, and serum has attracted a great deal of interest because to these clinical connections and the quest for a deeper knowledge of disease pathophysiology...
March 21, 2024: Molecular Biotechnology
https://read.qxmd.com/read/38511943/evaluation-of-molecular-diagnostic-test-for-detection-of-adult-pulmonary-tuberculosis-a-generic-protocol
#36
JOURNAL ARTICLE
Madhumathi Jayaprakasam, Ravindra Mohan Pandey, Hansraj Choudhary, Sivakumar Shanmugam, Gomathi N Sivaramakrishnan, Nivedita Gupta
BACKGROUND OBJECTIVES: Tuberculosis (TB) continues to be the second most-leading cause of death due to a single infectious agent as of 2022 after COVID-19. Many affordable new molecular diagnostic tools are being developed for early and more accurate diagnosis, especially for low-resource settings in low- and middle-income countries. In this context, there is a need to develop a standardized protocol for validation of new diagnostic tools. Here, we describe a generic protocol for multi-centric clinical evaluation of molecular diagnostic tests for adult pulmonary TB...
March 20, 2024: Indian Journal of Medical Research
https://read.qxmd.com/read/38510824/clinical-values-of-whole-body-blood-pool-scans-and-spect-for-evaluation-of-congenital-vascular-malformation
#37
JOURNAL ARTICLE
Junik Son, Chae Moon Hong, Jaetae Lee, Ho Yun Chung, Byeong-Cheol Ahn
PURPOSE: This study examines the diagnostic potential of whole-body blood pool scintigraphy (WBBPS) using technetium-99 m-labeled red blood cells to detect congenital vascular malformations (CVMs). It aims to compare its efficacy with traditional imaging techniques such as magnetic resonance imaging (MRI) and ultrasonography (USG), emphasizing its potential advantages in terms of characterization of lesions and capacity for whole-body assessment. METHODS: The efficacy of WBBPS and single-photon emission computed tomography (SPECT)/computed tomography (CT) imaging in diagnosing CVMs, comparing them with USG and MRI results, was evaluated in this retrospective study...
April 2024: Nuclear Medicine and Molecular Imaging
https://read.qxmd.com/read/38510277/long-read-sequencing-on-its-way-to-the-routine-diagnostics-of-genetic-diseases
#38
REVIEW
Giulia Olivucci, Emanuela Iovino, Giovanni Innella, Daniela Turchetti, Tommaso Pippucci, Pamela Magini
The clinical application of technological progress in the identification of DNA alterations has always led to improvements of diagnostic yields in genetic medicine. At chromosome side, from cytogenetic techniques evaluating number and gross structural defects to genomic microarrays detecting cryptic copy number variants, and at molecular level, from Sanger method studying the nucleotide sequence of single genes to the high-throughput next-generation sequencing (NGS) technologies, resolution and sensitivity progressively increased expanding considerably the range of detectable DNA anomalies and alongside of Mendelian disorders with known genetic causes...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38510272/elucidating-the-role-of-twist1-in-ulcerative-colitis-a-comprehensive-bioinformatics-and-machine-learning-approach
#39
JOURNAL ARTICLE
Wenjie Ou, Zhaoxue Qi, Ning Liu, Junzi Zhang, Xuguang Mi, Yuan Song, Yanqiu Fang, Baiying Cui, Junjie Hou, Zhixin Yuan
Background: Ulcerative colitis (UC) is a common and progressive inflammatory bowel disease primarily affecting the colon and rectum. Prolonged inflammation can lead to colitis-associated colorectal cancer (CAC). While the exact cause of UC remains unknown, this study aims to investigate the role of the TWIST1 gene in UC. Methods: Second-generation sequencing data from adult UC patients were obtained from the Gene Expression Omnibus (GEO) database. Differentially expressed genes (DEGs) were identified, and characteristic genes were selected using machine learning and Lasso regression...
2024: Frontiers in Genetics
https://read.qxmd.com/read/38509983/identification-of-circadian-rhythm-related-gene-classification-patterns-and-immune-infiltration-analysis-in-heart-failure-based-on-machine-learning
#40
JOURNAL ARTICLE
Xuefu Wang, Jin Rao, Li Zhang, Xuwen Liu, Yufeng Zhang
BACKGROUND: Circadian rhythms play a key role in the failing heart, but the exact molecular mechanisms linking changes in the expression of circadian rhythm-related genes to heart failure (HF) remain unclear. METHODS: By intersecting differentially expressed genes (DEGs) between normal and HF samples in the Gene Expression Omnibus (GEO) database with circadian rhythm-related genes (CRGs), differentially expressed circadian rhythm-related genes (DE-CRGs) were obtained...
March 30, 2024: Heliyon
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