A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice by Cristina Méndez-Vidal, Nereida Bravo-Gil, Javier Pérez-Florido, Irene Marcos-Luque, Raquel M. Fernández, José Luis Fernández-Rueda, María González-del Pozo, Marta Martín-Sánchez, Elena Fernández-Suárez, Marcela Mena, Rosario Carmona, Joaquín Dopazo, Salud Borrego, Guillermo Antiñolo

“…Abstract Background Despite the use of Next-Generation Sequencing (NGS) as the gold standard for the diagnosis of rare diseases, its clinical implementation has been challenging, limiting the cost-effectiveness of NGS and the understanding, control and safety essential for decision-making in clinical applications. Here, we describe a personalized NGS-based strategy integrating precision medicine into a public healthcare system and its implementation in the routine diagnosis process during a five-year pilot program. …”
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Atlantic mackerel population structure does not support genetically distinct spawning components [version 2; peer review: 1 approved, 2 approved with reservations] by Imanol Aguirre-Sarabia, Alice Manuzzi, Dorte Bekkevold, Natalia Díaz-Arce, Jessica Gomez-Garrido, Teunis Jansen, Marta Gut, Tyler S. Alioto, Sonia Sanchez-Maroño, Martin Castonguay, Naiara Rodriguez-Ezpeleta, Paula Álvarez

“…Given its highly migratory behaviour for feeding and spawning, several studies have been conducted to assess differentiation among spawning components to better define management units, as well as to investigate possible adaptations to comprehend and predict recent range expansion northwards. Methods Here, the genome of S. scombrus was sequenced and annotated, as an increasing number of population genetic studies have proven the relevance of reference genomes to investigate genomic markers/regions potentially linked to differences at finer scale. …”
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Ground-based contrail observations: comparisons with reanalysis weather data and contrail model simulations by J. Low, R. Teoh, J. Ponsonby, E. Gryspeerdt, M. Shapiro, M. E. J. Stettler

“…<p>Observations of contrails are vital for improving our understanding of the contrail formation and life cycle, informing models, and assessing mitigation strategies. Here, we developed a methodology that utilises ground-based cameras for tracking and analysing young contrails (<span class="inline-formula">&lt;</span> 35 <span class="inline-formula">min</span>) formed under clear-sky conditions, comparing these observations against reanalysis meteorology and simulations from the contrail cirrus prediction model (CoCiP) with actual flight trajectories. …”
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Brain connectivity for constructing new face representations in typical adults versus a prosopagnosic patient by Ela I. Olivares, Jorge F. Bosch-Bayard, Ana S. Urraca, Alba Jiménez-Bascuñán, Rolando J. Biscay, Jaime Iglesias

“…Will our brains get to know a new face better if we look at its external features first? Here we offer neurophysiological evidence of the relevance of external versus internal facial features for constructing new face representations, by contrasting successful face processing with a prototypical case of face agnosia. …”
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Case report: PD-L1-targeted high-affinity natural killer cells and IL-15 superagonist N-803-based therapy extend overall survival of advanced metastatic pancreatic cancer patients by Tara Seery, Lennie Sender, Omid Jafari, Frank Jones, Patricia Spilman, Sandeep B. Reddy, Patrick Soon-Shiong

“…The OS of 13, 26.9, and 23.2 months for three patients is particularly notable. The findings here support the ongoing clinical investigations of N-803 and PD-L1 t-haNK cells in combination therapy.…”
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Adsorptive removal of toxic heavy metal and dyes from wastewater by rice husk (lignocellulosic biomass) derived activated biochar: A fixed-bed column adsorption study by Md. Mahmudur Rahman, Mohd. Maniruzzaman, Nor ealam, Parvej Mahmud, Sumiya Khatun, Md. Kaowsar Hossain, Md. Ismail Hossain, Md. Hasanuzzaman, Md. Ashraful Alam, Md. Al-amin, Bijoy Chandra Ghos

“…To mitigate this crucial issue, here a fixed-bed column adsorption technology were chosen due to its simplecity, cost-effectivity, reuseablity. …”
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Molecular Characterization and Evolution Analysis of Two Forms of TLR5 and TLR13 Genes Base on Larimichthys crocea Genome Data by Lihua Jiang, Liyi Pei, Ping Wang, Liqin Liu, Gong Li, Binjian Liu, Zhenming Lǚ, Tabata Hiromasa, Hao Pan, Atsushi Ogura

“…TLR13 is a TLR that localizes to endosomes and recognizes nucleic acids released by internal microorganisms, including viruses, bacteria, and fungi. Here, the full-length coding sequence (CDS), protein structure, and immune response and subcellular localization of TLR5 (TLR5S) and TLR13 were characterized in large yellow croaker (Larimichthys crocea). …”
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A novel open-source cultivation system helps establish the first full cycle chemosynthetic symbiosis model system involving the giant ciliate Zoothamnium niveum by P. E. Contarini, E. Emboule, P. Jean-Louis, T. Woyke, S. V. Date, O. Gros, J-M. Volland, J-M. Volland, J-M. Volland

“…Highlighting the benefit of this new system, we here describe a new step in the first hours of development where the host pauses growth, expels a coat, before resuming growth, hinting at a putative symbiont selection mechanism early in the colony life cycle. …”
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Functional Characterization of the <i>PoWHY1</i> Gene from <i>Platycladus orientalis</i> and Its Role in Abiotic Stress Tolerance in Transgenic <i>Arabidopsis thaliana</i> by Chun Ou, Zhiyu Dong, Xudong Zheng, Wenhui Cheng, Ermei Chang, Xiamei Yao

“…However, the mechanism of the <i>PoWHY1</i> gene in <i>Platycladus orientalis</i> under abiotic stress is still unclear. Here, the <i>PoWHY1</i> gene was analyzed bioinformatically using <i>P. orientalis</i> as study material, and the role of the gene against abiotic stress conditions in <i>Arabidopsis thaliana</i> was verified using transgenic technology. …”
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Cancer-specific innate and adaptive immune rewiring drives resistance to PD-1 blockade in classic Hodgkin lymphoma by Julia Paczkowska, Ming Tang, Kyle T. Wright, Li Song, Kelsey Luu, Vignesh Shanmugam, Emma L. Welsh, Jason L. Weirather, Naomi Besson, Harrison Olszewski, Billie A. Porter, Kathleen L. Pfaff, Robert A. Redd, Fathima Zumla Cader, Elisa Mandato, Jing Ouyang, Eleonora Calabretta, Gali Bai, Lee N. Lawton, Philippe Armand, Scott J. Rodig, Xiaole Shirley Liu, Margaret A. Shipp

“…However, patients with cHL are highly responsive to PD-1 blockade, which largely depends on HRS cell-specific retention of MHC class II and implicates CD4+ T cells and additional MHC class I-independent immune effectors. Here, we utilize single-cell RNA sequencing and spatial analysis to define shared circulating and microenvironmental features of the immune response to PD-1 blockade in cHL. …”
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Relating Sensory, Cognitive, and Neural Factors to Older Persons’ Perceptions about Happiness: An Exploratory Study by Alexandra J. Horne, Kimberly S. Chiew, Jie Zhuang, Linda K. George, R. Alison Adcock, Guy G. Potter, Eleonora M. Lad, Scott W. Cousins, Frank R. Lin, Sara K. Mamo, Nan-Kuei Chen, Abigail J. Maciejewski, Xuan Duong Fernandez, Heather E. Whitson

“…While the framework for determinants of happiness among seniors was largely stable across the factors assessed here, our findings suggest that subtle changes in this construct may be linked to sensory loss. …”
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High-z Stellar Masses Can Be Recovered Robustly with JWST Photometry by R. K. Cochrane, H. Katz, R. Begley, C. C. Hayward, P. N. Best

“…Robust inference of galaxy stellar masses from photometry is crucial for constraints on galaxy assembly across cosmic time. Here, we test a commonly used spectral energy distribution (SED) fitting code using simulated galaxies from the S phinx ^20 cosmological radiation hydrodynamics simulation with JWST NIRCam photometry forward-modeled with radiative transfer. …”
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Th2-Immune Polarizing and Anti-Inflammatory Properties of Insulin Are Not Effective in Type 2 Diabetic Pregnancy by Adnette Fagninou, Magloire Pandoua Nekoua, Darius Sossou, Kabirou Moutairou, Nadine Fievet, Akadiri Yessoufou

“…The implication of the immune system in the physiopathology of pregnancy complicated by diabetes has been reported. Here, we investigated the effects of insulin treatment on the frequencies of immune cell subpopulations as well as T cell-derived cytokines in type 2 diabetic (T2D) pregnancy compared to gestational diabetes mellitus (GDM). …”
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Targeting unique ligand binding domain structural features downregulates DKK1 in Y537S ESR1 mutant breast cancer cells by K. S. Young, G. R. Hancock, E. C. Fink, A. Zigrossi, B. Flowers, D. A. Cooper, V. T. Nguyen, M. C. Martinez, K. S. Mon, M. Bosland, D. R. Zak, A. P. Runde, M. N. Sharifi, I. Kastrati, D. D. L. Minh, S. Kregel, Sean W. Fanning

“…We previously described a chemically unconventional SERM, T6I-29, that demonstrates significant anti-proliferative activities in Y537S ERα breast cancer cells. Here, we use a comprehensive suite of structural-biochemical, in vitro, and in vivo approaches to better T6I-29’s activities in breast cancer cells harboring Y537S ERα. …”
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Human Factors Studies to Assess the Usability of the Faricimab Prefilled Syringe by Barakat MR, Kwong Jr HM, Marcon G, O'Leary OE, Paris LP, Schneider P, Tang Y, Graff JM

“…., San Francisco, CA, USA; 6Barnet Dulaney Perkins Eye Center, Phoenix, AZ, USA; 7Ophthalmology Division, Creighton University School of Medicine, Phoenix, Arizona, USACorrespondence: Jordan M Graff, Barnet Dulaney Perkins Eye Center, Phoenix, AZ, USA, Tel +1 480 843 1868, Email JGraff@BDPEC.comPurpose: Faricimab, the first bispecific antibody designed for intraocular use, is approved for the treatment of neovascular age-related macular degeneration (nAMD), diabetic macular edema (DME), and retinal vein occlusion (RVO). Here, we report the usability of a novel faricimab 6 mg pre-filled syringe (PFS) configuration that has been designed specifically for intravitreal use.Patients and Methods: A simulated-use human factors validation study enrolling 15 retina specialists and 15 ophthalmic assistants was conducted in a market research facility configured to represent an ophthalmology clinic. …”
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Nivolumab plasma concentration and clearance associated with overall survival in patients with renal cell carcinoma by Aurélien Marabelle, Laurence Albiges, Angelo Paci, Cécile Dalban, David Combarel, Sophie Broutin, Christophe Maritaz, Louis Blondel

“…ICIs are indicated for various types of advanced solid tumors; however, not all patients benefit from them, and tools that could be used in the clinic to predict response to treatment represent an unmet need. Here we describe the development of a new population pharmacokinetic (PPK) model in patients treated with nivolumab in clinical trials. …”
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A Decade of GRB Follow-Up by BOOTES in Spain (2003–2013) by Martin Jelínek, Alberto J. Castro-Tirado, Ronan Cunniffe, Javier Gorosabel, Stanislav Vítek, Petr Kubánek, Antonio de Ugarte Postigo, Sergey Guziy, Juan C. Tello, Petr Páta, Rubén Sánchez-Ramírez, Samantha Oates, Soomin Jeong, Jan Štrobl, Sebastián Castillo-Carrión, Tomás Mateo Sanguino, Ovidio Rabaza, Dolores Pérez-Ramírez, Rafael Fernández-Muñoz, Benito A. de la Morena Carretero, René Hudec, Víctor Reglero, Lola Sabau-Graziati

“…Follow-ups by BOOTES-1B from 2005 to 2008 were given in a previous article and are here reviewed and updated, and additional detection data points are included as the former article merely stated their existence. …”
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Ion suppression correction and normalization for non-targeted metabolomics by Iqbal Mahmud, Bo Wei, Lucas Veillon, Lin Tan, Sara Martinez, Bao Tran, Alexander Raskind, Felice de Jong, Yiwei Liu, Jibin Ding, Yun Xiong, Wai-kin Chan, Rehan Akbani, John N. Weinstein, Chris Beecher, Philip L. Lorenzi

“…Abstract Ion suppression is a major problem in mass spectrometry (MS)-based metabolomics; it can dramatically decrease measurement accuracy, precision, and sensitivity. Here we report a method, the IROA TruQuant Workflow, that uses a stable isotope-labeled internal standard (IROA-IS) library plus companion algorithms to: 1) measure and correct for ion suppression, and 2) perform Dual MSTUS normalization of MS metabolomic data. …”
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A novel platform for engineered AAV-based vaccines by Sabrina Babutzka, Miranda Gehrke, Anastasia Papadopoulou, Maria Diedrichs-Möhring, Maria Giannaki, Lena Hennis, Bastian Föhr, Cale Kooyman, Andreas Osterman, Evangelia Yannaki, Gerhild Wildner, Hermann Ammer, Stylianos Michalakis

“…Capsid engineering can also be used to adapt the AAV technology for applications outside gene therapy. Here, we investigated modified AAV capsids as scaffolds for the presentation of large immunogenic antigens to elicit a strong and specific immune response against pathogens. …”
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Tungsten Diselenide Nanoparticles Produced via Femtosecond Ablation for SERS and Theranostics Applications by Andrei Ushkov, Dmitriy Dyubo, Nadezhda Belozerova, Ivan Kazantsev, Dmitry Yakubovsky, Alexander Syuy, Gleb V. Tikhonowski, Daniil Tselikov, Ilya Martynov, Georgy Ermolaev, Dmitriy Grudinin, Alexander Melentev, Anton A. Popov, Alexander Chernov, Alexey D. Bolshakov, Andrey A. Vyshnevyy, Aleksey Arsenin, Andrei V. Kabashin, Gleb I. Tselikov, Valentyn Volkov

“…Due to their high refractive index, record optical anisotropy and a set of excitonic transitions in visible range at a room temperature, transition metal dichalcogenides have gained much attention. Here, we adapted a femtosecond laser ablation for the synthesis of WSe₂ nanoparticles (NPs) with diameters from 5 to 150 nm, which conserve the crystalline structure of the original bulk crystal. …”
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