The clinic application of mNGS and ENA-78 assays to identify intra-amniotic infection/inflammation by Di Shen, Di Shen, Hui Ju, Hongying Wang, Xietong Wang, Xietong Wang, Guangzhen Li

“…Pregnancy outcomes were compared, the predictive performance of mNGS and ENA-78 were assessed to evaluate the efficacy of emergency cervical cerclage.ResultsThe diagnosis rate of MIAC was higher with mNGS (17.5%) compared to microbial culture (2.5%). …”
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Prospecting cellulolytic bacteria from white grubs (Holotrichia serrata (F.) and Leucopholis coneophora Burmeister) native to Karnataka region by Gatta Vishnu Vyasa, Ramesh Balenahalli Narasingappa, K. V. Prakash, P. Bhavani, K. R. Gagandeep

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Genetic testing enhances diagnosis in critically ill neonates: insights from the first Colombian cohort by Paula Rueda-Gaitán, Paula Rueda-Gaitán, Diego Alejandro Rodríguez Gutiérrez, Diego Alejandro Rodríguez Gutiérrez, Yuri Natalia Sanchez Rubio, Yina D. Carrillo, Leslie Ivonne Martínez de la Barrera, Néstor Nenroth Muñetones Reina, Mario Isaza-Ruget, Mario Isaza-Ruget, Juan Javier López Rivera, Juan Javier López Rivera, Juan Javier López Rivera

“…The incorporation of technologies such as Next Generation Sequencing (NGS) and array-based Comparative Genomic Hybridization (aCGH) in increasingly younger patients has accelerated the transition toward precision medicine.MethodsThis retrospective cross-sectional study (January 2021–June 2024) included 187 neonates (≤90 days old) from the NICUs of the Clínica Colsanitas network in Bogotá, Colombia and evaluate the diagnostic yield for genomic testing comprising 82 Whole Exome Sequencing (WES) and 125 aCGH tests, with 18 patients undergoing both. …”
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3-Methylglutaconic Aciduria Type VIIB — Rare Hereditary Metabolic Disorder with Antenatal Onset: Clinical Case by Irina A. Belyaeva, Anna L. Karpova, Maria G. Degtyareva, Andrey Yu. Kruglyakov, Mikhail M. Kamenev, Tatyana A. Tenovskaya, Anastasiya V. Sheremetyeva

“…Pathological motor activity of the intrauterine child combined with neonatal motor impairment and neutropenia are sufficient basis for whole-genome sequencing to establish etiological diagnosis. The types of 3-MGA inheritance correlate with different disease prognosis, thus, it is crucial to examine proband’s parents to evaluate the risks of sick children birth.…”
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A Novel <i>flaB</i> Gene-Based Profiling Approach for the Rapid and Accurate Detection of <i>Borreliella</i> and <i>Borrelia</i> Species in Ticks by Abigail Dorothea Taylor, Artur Trzebny, Małgorzata Łośko, Jerzy Franciszek Michalik, Miroslawa Dabert

“…In this study, we present a novel <i>flaB</i> gene-based profiling method for the detection and identification of <i>Borrelia</i> and <i>Borreliella</i> species in <i>Ixodes ricinus</i> ticks, combining newly designed primers with next-generation sequencing (NGS). The method was evaluated alongside conventional nested PCR targeting the <i>flaB</i> gene, as well as microbial profiling based on the V4 region of the <i>rrs</i> gene, using tick DNA extracted from 1088 specimens pooled into 94 samples. …”
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Identification of programmed cell death-related genes and construction of a prognostic model in oral squamous cell carcinoma using single-cell and transcriptome analysis by Yongheng Li, Yang Yu, Shaonan Hu, Simin Li

“…Single-cell RNA sequencing data was obtained from GSE172577 (6 OSCC samples). …”
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Different doses of hydroxychloroquine regulate the structure of intestinal flora and glycosyltransferase activity in rats with IgA nephropathy by Lingling Bao, Xueyan Bian, Liling Ren, Sizeng Bao, Aiwei Zhang

“…Then the number of urine erythrocyte and the renal function of rats were evaluated. The levels of galactose-deficient IgA1 (Gd-IgA1), B cell activation factor (BAFF) and C-reactive protein (CRP) in serum and those of inflammatory factors in renal tissue were detected by ELISA. …”
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Transparent memory tests with even repeating addresses for storage devices by V. N. Yarmolik, I. M. Mrozek, V. A. Levantsevich, D. V. Demenkovets

“…The basis of new metrics is the distance D(A(j), pA) determined by the difference between the indices of repeated addresses A(j) in the sequence pA. The properties of new characteristics of the pA sequences are investigated and their applicability is evaluated for choosing the optimal test pA sequences that ensure the high efficiency of new transparent tests. …”
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Uncovering the heterogeneity of the gut microbial taxa associated with the contents of different fatty acids in muscle with cecum luminal content and fecal samples from two pig pop... by Xiao Sun, Bin Yang, Congying Chen

“…We systematically evaluated the contribution of gut microbiota to the variations of muscle fatty acid contents from the α-diversity of gut microbiota, co-abundance groups (CAGs) of Amplicon Sequence Variants (ASVs), and fatty acid-associated bacterial taxa. …”
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Identification of De Novo Radio-Tartaglia Syndrome and Comparison of Clinical and Molecular Characteristics with Those of 1p36 Deletion Syndrome by Hyun-Young Kim, Jeehun Lee, Ja-Hyun Jang, Jong-Won Kim, Jiwon Lee, Mi-Ae Jang

“…Methods A 3-year-old boy was brought to the hospital and underwent whole genome sequencing to evaluate developmental delay and multiple anomalies. …”
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Preclinical NCI-MPACT: prospective modeling of the mutation-based NCI-MPACT clinical trial therapeutic strategy in patient-derived xenograft models by Yvonne A. Evrard, Sergio Y. Alcoser, Michael Mullendore, Li Chen, Chih-Jian Lih, Vishnuprabha Rahul Kannan, Vivekananda Datta, Lindsay Dutko, Shahanawaz Jiwani, Lawrence V. Rubinstein, Yingdong Zhao, P. Mickey Williams, Alida Palmisano, Alida Palmisano, Laura Kuhlmann, Mel Simpson, Shivaani Kummar, Biswajit Das, Chris Karlovich, Eric Polley, Ming-Chung Li, Alice P. Chen, Melinda G. Hollingshead, James H. Doroshow, James H. Doroshow

“…PurposeThe National Cancer Institute’s Molecular Profiling-Based Assignment of Cancer Therapy (NCI-MPACT) randomized phase 2 clinical trial assessed the utility of applying tumor DNA sequencing to treatment selection. Here, we report the results of a companion preclinical study in patient-derived xenograft (PDX) models to evaluate how each tumor responded to each of the treatment regimens studied in the NCI-MPACT trial instead of simply to the specific regimen targeting the study-actionable mutation of interest (aMOI).MethodsFifty-one PDX models (46 with and 5 without NCI-MPACT aMOIs) were tested against both the arm that would have been assigned in the NCI-MPACT trial as well as every other study regimen: (1) veliparib plus temozolomide or (2) adavosertib plus carboplatin (targeting the DNA repair pathway); (3) everolimus (targeting the PI3K pathway); and (4) trametinib (targeting the RAS/RAF/MEK pathway). …”
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Variations in salivary microbiota and metabolic phenotype related to oral lichen planus with psychiatric symptoms by Kuichi Chen, Yuqi Qin, Li Yan, Yunmei Dong, Shiping Lv, Jingyi Xu, Ning Kang, Zhuoyan Luo, Yiyun Liu, Juncai Pu, Fangchun Chen, Xin Jin

“…This study aims to investigate the alterations in oral microbiota and metabolites in OLP patients with psychiatric symptoms, providing a theoretical foundation for understanding the pathogenesis and treatment of OLP. Methods 16S rRNA sequencing was used to evaluate the oral microbial population in a cohort of 105 OLP patients. …”
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Identification and functional characterization of ABCA4 gene variants in three patients with Stargardt disease or retinitis pigmentosa by Qi Luo, Juan Huang, Lu Shi, Lu Shi, Guanghong Zhang, Linping Xue, Kehu Wu, Xiaoyu Li, Lei Yang, Dujun Li, Liangwei Mao, Jihong Luo

“…In this study, we aimed to identify and analyze potential pathogenic ABCA4 variants in patients with Stargardt disease or retinitis pigmentosa and to explore the impact of an intronic variant (NM_000350.3:c.6386 + 4A&gt;G) on mRNA splicing.MethodsWe enrolled three patients from unrelated families with Stargardt disease or retinitis pigmentosa after comprehensive ophthalmological evaluations were performed. Whole-exome sequencing and Sanger sequencing were applied for mutation screening, focusing on inherited retinal dystrophy-related genes. …”
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An in vitro pharmacogenomic approach reveals subtype-specific therapeutic vulnerabilities in atypical teratoid/rhabdoid tumors (AT/RT) by David Pauck, Daniel Picard, Mara Maue, Kübra Taban, Viktoria Marquardt, Lena Blümel, Jasmin Bartl, Nan Qin, Nadezhda Kubon, Dominik Schöndorf, Frauke-Dorothee Meyer, Johanna Theruvath, Siddhartha Mitra, Martin Hasselblatt, Michael C. Frühwald, Guido Reifenberger, Marc Remke

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Clinical and Microbiological Characteristics of Carbapenem-Resistant Klebsiella pneumoniae Associated Recurrent Urinary Tract Infections by Cao H, Cheng H, Zhou J, Zhao J, Xu M, Fei Y

“…Polymerase Chain Reaction (PCR) and whole-genome sequencing (WGS) were utilized to determine multilocus sequence typing (MLST) and capsular serotyping, as well as to identify resistance genes, virulence genes, and plasmid replicons. …”
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Physiological and transcriptome analysis reveals the mechanism of Gymnocarpos przewalskii response to drought stress by Chao Du, Xinyu Ni, Mengjiao Yan, Qinghan Meng, Junying He

“…This study aimed to evaluate the forage quality of G. przewalskii and investigate the physiological and transcriptomic changes in G. przewalskii response to drought stress. …”
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Molecular characterization of early-stage lung adenocarcinoma presenting as subsolid nodules in a real-life European cohort by Riccardo Tajè, Filippo Tommaso Gallina, Mauro Caterino, Daniele Forcella, Alexandro Patirelis, Gabriele Alessandrini, Simonetta Buglioni, Fabiana Letizia Cecere, Francesca Fusco, Federico Cappelli, Enrico Melis, Paolo Visca, Federico Cappuzzo, Vincenzo Ambrogi, Antonello Vidiri

“…Common and actionable mutations (frequency > 5%) relation to key clinico-radiological features are evaluated. Results Overall, 156 subsolid adenocarcinomas were analysed. …”
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Characterization of highly virulent community-associated methicillin-resistant Staphylococcus aureus ST9-SCCmec XII causing bloodstream infection in China by Ye Jin, Xiao Yu, Yunbo Chen, Weiwei Chen, Pin Shen, Qixia Luo, Shuntian Zhang, Xiaoyang Kong, Beiwen Zheng, Yonghong Xiao

“…We obtained whole-genome sequences of one ST9-t899-XII isolate—ZY462471—from a patient with bloodstream infection without livestock contact. …”
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Direct long-read visualization reveals hidden variation in GCH1 gene copy number and precise expansion steps by Shiwei Liu, Julia Zulawinska, Emily R. Ebel, Aleksander Luniewski, Charles Danis, Mary Lewis Simpson, Jane Kim, Nnenna Ene, Thomas Werner Anthony Braukmann, Molly Congdon, Webster Santos, Ellen Yeh, Jennifer L. Guler

“…We found conserved AT-rich sequences at amplicon boundaries, which is consistent with the Plasmodium model of CNV formation. …”
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Characterization of Microbiome Diversity in the Digestive Tract of <i>Penaeus vannamei</i> Fed with Probiotics and Challenged with <i>Vibrio parahaemolyticus</i> Acute Hepatopancre... by Lucio Galaviz-Silva, Abraham O. Rodríguez de la Fuente, Ricardo Gomez-Flores, José C. Ibarra-Gámez, Itza Eloisa Luna-Cruz, Joel H. Elizondo-Luevano, Ricardo Sánchez-Díaz, Zinnia J. Molina Garza

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